CSF1 (colony stimulating factor 1) - Rat Genome Database

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Gene: CSF1 (colony stimulating factor 1) Homo sapiens
Analyze
Symbol: CSF1
Name: colony stimulating factor 1
RGD ID: 731066
HGNC Page HGNC:2432
Description: Enables cytokine activity; growth factor activity; and protein homodimerization activity. Involved in several processes, including positive regulation of cell differentiation; positive regulation of macromolecule metabolic process; and positive regulation of macrophage migration. Acts upstream of or within positive regulation of cell population proliferation. Located in several cellular components, including extracellular space; nuclear body; and perinuclear region of cytoplasm. Implicated in interstitial cystitis. Biomarker of several diseases, including COVID-19; atherosclerosis; end stage renal disease; glomerulonephritis (multiple); and vesicoureteral reflux.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: colony stimulating factor 1 (macrophage); CSF-1; lanimostim; macrophage colony stimulating factor; macrophage colony stimulating factor 1; macrophage colony-stimulating factor 1; MCSF; MGC31930; PG-M-CSF; proteoglycan macrophage colony-stimulating factor
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381109,910,506 - 109,930,992 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1109,910,242 - 109,930,992 (+)Ensemblhg38GRCh38
GRCh371110,453,471 - 110,473,614 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361110,254,980 - 110,273,878 (+)NCBIBuild 36Build 36hg18NCBI36
Build 341110,165,498 - 110,184,397NCBI
Celera1108,699,836 - 108,719,046 (+)NCBICelera
Cytogenetic Map1p13.3NCBI
HuRef1108,322,980 - 108,343,084 (+)NCBIHuRef
CHM1_11110,568,036 - 110,588,399 (+)NCBICHM1_1
T2T-CHM13v2.01109,920,642 - 109,941,109 (+)NCBIT2T-CHM13v2.0
JBrowse:




Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-amphetamine  (ISO)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-octadec-9-enoylglycero-3-phosphate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2'-Methylenebis(4-methyl-6-tert-butylphenol)  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
2-tert-butylhydroquinone  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-acetyldeoxynivalenol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-phenylbutyric acid  (ISO)
5,6-dichloro-1-beta-D-ribofuranosyl-1H-benzimidazole  (ISO)
5-azacytidine  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
Aflatoxin B2 alpha  (EXP)
aldehydo-D-glucosamine  (ISO)
all-trans-retinoic acid  (EXP)
alpha-Zearalanol  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
aripiprazole  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
asbestos  (EXP)
aspartame  (ISO)
atazanavir sulfate  (EXP)
Azoxymethane  (ISO)
benzalkonium chloride  (ISO)
benzamide  (ISO)
benzene  (EXP,ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
benzoates  (EXP)
beta-D-glucosamine  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
Butylbenzyl phthalate  (ISO)
butyric acid  (EXP)
C.I. Natural Red 20  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
calcitriol  (EXP)
cannabidiol  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chenodeoxycholic acid  (EXP)
cholesterol  (EXP)
choline  (ISO)
cisplatin  (ISO)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
crocidolite asbestos  (ISO)
crotonaldehyde  (EXP)
curcumin  (EXP)
cycloheximide  (ISO)
cyclophosphamide  (ISO)
cyclosporin A  (EXP,ISO)
DAPT  (ISO)
deoxycholic acid  (EXP)
dexamethasone  (ISO)
dextran sulfate  (ISO)
dibenz[a,h]anthracene  (ISO)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
diclofenac  (ISO)
diethyl phthalate  (ISO)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dioxygen  (ISO)
diuron  (EXP)
dorsomorphin  (EXP)
doxorubicin  (ISO)
EGTA acetoxymethyl ester  (EXP)
elemental selenium  (EXP)
endosulfan  (ISO)
enzyme inhibitor  (EXP,ISO)
epoxiconazole  (ISO)
ethanol  (EXP,ISO)
ethyl methanesulfonate  (EXP)
fenamidone  (ISO)
fentanyl  (ISO)
fenvalerate  (ISO)
finasteride  (ISO)
flutamide  (ISO)
folic acid  (EXP,ISO)
formaldehyde  (EXP)
fulvestrant  (EXP)
genistein  (ISO)
gentamycin  (ISO)
glafenine  (ISO)
glycochenodeoxycholic acid  (EXP)
glycocholic acid  (EXP)
glycodeoxycholic acid  (EXP)
glyphosate  (ISO)
graphite  (ISO)
GTP  (ISO)
GW 4064  (EXP)
histamine  (ISO)
hydrogen peroxide  (EXP)
iron dichloride  (EXP)
leflunomide  (EXP)
lipopolysaccharide  (EXP,ISO)
LY294002  (ISO)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP)
methamphetamine  (ISO)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
monosodium L-glutamate  (ISO)
Muraglitazar  (ISO)
N-acetyl-L-cysteine  (ISO)
N-nitrosodimethylamine  (ISO)
nefazodone  (EXP,ISO)
nickel atom  (EXP)
nickel dichloride  (EXP)
niclosamide  (ISO)
nitric oxide  (EXP,ISO)
o-anisidine  (EXP)
oxaliplatin  (ISO)
ozone  (EXP,ISO)
paracetamol  (EXP,ISO)
paraquat  (EXP)
pentachlorophenol  (ISO)
perfluorodecanoic acid  (EXP)
perfluorohexanesulfonic acid  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctanoic acid  (EXP,ISO)
perfluoroundecanoic acid  (EXP)
pexidartinib  (EXP)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
raloxifene  (EXP)
resveratrol  (EXP,ISO)
Risedronate sodium  (ISO)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
SB 431542  (EXP)
selenium atom  (EXP)
Shikonin  (ISO)
silicon dioxide  (EXP,ISO)
sirolimus  (ISO)
sodium arsenite  (EXP,ISO)
Soman  (ISO)
succimer  (ISO)
sulindac  (ISO)
T-2 toxin  (EXP,ISO)
tacrolimus hydrate  (ISO)
tamoxifen  (ISO)
tartrazine  (EXP)
terameprocol  (ISO)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP)
tetracycline  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
thymidine  (EXP)
titanium dioxide  (ISO)
topotecan  (ISO)
triadimefon  (EXP)
trichloroethene  (ISO)
triclosan  (EXP)
triphenyl phosphate  (EXP)
triptonide  (ISO)
troglitazone  (ISO)
urethane  (EXP)
zinc atom  (ISO)
zinc sulfate  (ISO)
zinc(0)  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
branching involved in mammary gland duct morphogenesis  (IEA)
cell surface receptor protein tyrosine kinase signaling pathway  (IDA)
cellular response to parathyroid hormone stimulus  (ISO)
developmental process involved in reproduction  (IEA,ISS)
homeostasis of number of cells within a tissue  (IEA)
immune system process  (IEA)
inflammatory response  (IEA)
innate immune response  (IEA)
macrophage colony-stimulating factor signaling pathway  (IEA)
macrophage differentiation  (IEA,ISO,TAS)
macrophage homeostasis  (IEA)
mammary duct terminal end bud growth  (IEA)
mammary gland fat development  (IEA)
microglial cell proliferation  (IEA)
monocyte activation  (NAS)
monocyte differentiation  (IEA)
monocyte homeostasis  (IEA)
myeloid leukocyte migration  (IEA)
neutrophil homeostasis  (IEA)
ossification  (ISO)
osteoclast differentiation  (IBA,IDA,IEA,ISO)
osteoclast proliferation  (IEA)
positive regulation of cell migration  (ISO,ISS)
positive regulation of cell population proliferation  (IDA,TAS)
positive regulation of cell-matrix adhesion  (IEA,ISS)
positive regulation of gene expression  (IDA,IEA)
positive regulation of leukocyte migration  (IEA)
positive regulation of macrophage chemotaxis  (IDA)
positive regulation of macrophage colony-stimulating factor signaling pathway  (IDA)
positive regulation of macrophage derived foam cell differentiation  (IDA)
positive regulation of macrophage differentiation  (IBA,IDA,IEA)
positive regulation of macrophage migration  (IMP)
positive regulation of macrophage proliferation  (ISO)
positive regulation of microglial cell migration  (IDA)
positive regulation of monocyte differentiation  (IEA,ISS)
positive regulation of mononuclear cell migration  (ISO)
positive regulation of mononuclear cell proliferation  (IDA)
positive regulation of multicellular organism growth  (IEA)
positive regulation of odontogenesis of dentin-containing tooth  (IEA)
positive regulation of osteoclast differentiation  (IDA,IEA)
positive regulation of protein kinase activity  (ISO)
positive regulation of protein metabolic process  (IDA)
positive regulation of Ras protein signal transduction  (IEA)
Ras protein signal transduction  (IEA)
regulation of macrophage derived foam cell differentiation  (NAS)
regulation of ossification  (IEA)
response to ischemia  (IDA)
response to lipopolysaccharide  (ISO)
response to mechanical stimulus  (ISO)
signal transduction  (IEA)

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Increased expression of macrophage colony-stimulating factor and its receptor in patients with endometriosis. Budrys NM, etal., Fertil Steril. 2012 May;97(5):1129-35.e1. doi: 10.1016/j.fertnstert.2012.02.007. Epub 2012 Feb 24.
2. Mapping the cytokine profile of painful bladder syndrome/interstitial cystitis in human bladder and urine specimens. Corcoran AT, etal., World J Urol. 2013 Feb;31(1):241-6. doi: 10.1007/s00345-012-0852-y. Epub 2012 Mar 24.
3. Inflammation Profiling of Critically Ill Coronavirus Disease 2019 Patients. Fraser DD, etal., Crit Care Explor. 2020 Jun 22;2(6):e0144. doi: 10.1097/CCE.0000000000000144. eCollection 2020 Jun.
4. Serum level of macrophage colony-stimulating factor and atherosclerosis in hemodialysis patients. Haraguchi K, etal., Nephron Clin Pract. 2006;102(1):c14-20. Epub 2005 Sep 13.
5. Local macrophage proliferation correlates with increased renal M-CSF expression in human glomerulonephritis. Isbel NM, etal., Nephrol Dial Transplant. 2001 Aug;16(8):1638-47.
6. Preventive and therapeutic effects of imatinib in Wistar-Kyoto rats with anti-glomerular basement membrane glomerulonephritis. Iyoda M, etal., Kidney Int. 2009 May;75(10):1060-70. doi: 10.1038/ki.2009.43. Epub 2009 Feb 25.
7. Distinct in vivo roles of colony-stimulating factor-1 isoforms in renal inflammation. Jang MH, etal., J Immunol. 2006 Sep 15;177(6):4055-63.
8. Antiangiogenic drugs synergize with a membrane macrophage colony-stimulating factor-based tumor vaccine to therapeutically treat rats with an established malignant intracranial glioma. Jeffes EW, etal., J Immunol. 2005 Mar 1;174(5):2533-43.
9. Interleukin-10 deficiency aggravates kidney inflammation and fibrosis in the unilateral ureteral obstruction mouse model. Jin Y, etal., Lab Invest. 2013 Jul;93(7):801-11. doi: 10.1038/labinvest.2013.64. Epub 2013 Apr 29.
10. Immunophenotypical characterization of macrophages in rat bleomycin-induced scleroderma. Juniantito V, etal., Vet Pathol. 2013 Jan;50(1):76-85. doi: 10.1177/0300985812450718. Epub 2012 Jun 13.
11. Overexpression of the colony-stimulating factor (CSF-1) and/or its receptor c-fms in mammary glands of transgenic mice results in hyperplasia and tumor formation. Kirma N, etal., Cancer Res. 2004 Jun 15;64(12):4162-70.
12. Macrophage colony-stimulating factor expression and macrophage accumulation in renal allograft rejection. Le Meur Y, etal., Transplantation. 2002 Apr 27;73(8):1318-24.
13. Negative role of colony-stimulating factor-1 in macrophage, T cell, and B cell mediated autoimmune disease in MRL-Fas(lpr) mice. Lenda DM, etal., J Immunol. 2004 Oct 1;173(7):4744-54.
14. Fcγ Receptor I-Coupled Signaling in Peripheral Nociceptors Mediates Joint Pain in a Rat Model of Rheumatoid Arthritis. Liu F, etal., Arthritis Rheumatol. 2020 Oct;72(10):1668-1678. doi: 10.1002/art.41386. Epub 2020 Sep 6.
15. Expression of macrophage colony-stimulating factor (M-CSF) and its receptor in streptozotocin-induced diabetic rats. Liu W, etal., Curr Eye Res. 2009 Feb;34(2):123-33. doi: 10.1080/02713680802650369.
16. Autocrine CSF-1 and CSF-1 receptor coexpression promotes renal cell carcinoma growth. Menke J, etal., Cancer Res. 2012 Jan 1;72(1):187-200. doi: 10.1158/0008-5472.CAN-11-1232. Epub 2011 Nov 3.
17. Distinct roles of CSF-1 isoforms in lupus nephritis. Menke J, etal., J Am Soc Nephrol. 2011 Oct;22(10):1821-33. doi: 10.1681/ASN.2011010038. Epub 2011 Sep 1.
18. Sunlight triggers cutaneous lupus through a CSF-1-dependent mechanism in MRL-Fas(lpr) mice. Menke J, etal., J Immunol. 2008 Nov 15;181(10):7367-79.
19. Up-regulation of macrophage colony-stimulating factor (M-CSF) and migration inhibitory factor (MIF) expression and monocyte recruitment during lipid-induced glomerular injury in the exogenous hypercholesterolaemic (ExHC) rat. Miyazaki K, etal., Clin Exp Immunol. 1997 May;108(2):318-23.
20. Colony-stimulating factor-1 antibody reverses chemoresistance in human MCF-7 breast cancer xenografts. Paulus P, etal., Cancer Res. 2006 Apr 15;66(8):4349-56.
21. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
22. Heterozygous osteopetrotic (op) mutation reduces atherosclerosis in LDL receptor- deficient mice. Rajavashisth T, etal., J Clin Invest 1998 Jun 15;101(12):2702-10.
23. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
24. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
25. The prognostic impact of M-CSF, CSF-1 receptor, CD68 and CD3 in prostatic carcinoma. Richardsen E, etal., Histopathology. 2008 May 28;.
26. Nitric oxide, enhanced by macrophage-colony stimulating factor, mediates renal damage in reflux nephropathy. Rolle U, etal., Kidney Int. 2002 Aug;62(2):507-13.
27. [Mediators of amyloidogenesis and cytokines in dialysis-related amyloidosis]. Rysava R, etal., Cas Lek Cesk. 2002 Apr 26;141(8):244-7.
28. Expansion of CD4+CD16+ blood monocytes in patients with chronic renal failure undergoing dialysis: possible involvement of macrophage colony-stimulating factor. Saionji K and Ohsaka A, Acta Haematol. 2001;105(1):21-6.
29. Renal epithelial cell-derived monocyte colony stimulating factor as a local informant of renal injury and means of monocyte activation. Singh KA, etal., Transpl Int. 2009 Jul;22(7):730-7. doi: 10.1111/j.1432-2277.2009.00840.x. Epub 2009 Jan 29.
30. Circulating colony stimulating factor-1 and breast cancer risk. Tamimi RM, etal., Cancer Res. 2008 Jan 1;68(1):18-21.
31. Urinary levels of RANTES and M-CSF are predictors of lupus nephritis flare. Tian S, etal., Inflamm Res. 2007 Jul;56(7):304-10.
32. The effect of macrophage colony-stimulating factor (M-CSF) on the progression of lipid-induced nephrotoxicity in diabetic nephropathy. Utsunomiya K, etal., J Diabetes Complications. 1995 Oct-Dec;9(4):292-5.
33. The osteopetrotic mutation toothless (tl) is a loss-of-function frameshift mutation in the rat Csf1 gene: Evidence of a crucial role for CSF-1 in osteoclastogenesis and endochondral ossification. Van Wesenbeeck L, etal., Proc Natl Acad Sci U S A 2002 Oct 29;99(22):14303-8.
34. Macrophage-colony stimulating factor as an inducer of microglial proliferation in axotomized rat facial nucleus. Yamamoto S, etal., J Neurochem. 2010 Nov;115(4):1057-67. doi: 10.1111/j.1471-4159.2010.06996.x. Epub 2010 Oct 12.
35. Plasma IP-10 and MCP-3 levels are highly associated with disease severity and predict the progression of COVID-19. Yang Y, etal., J Allergy Clin Immunol. 2020 Apr 29. pii: S0091-6749(20)30576-5. doi: 10.1016/j.jaci.2020.04.027.
36. CSF-1 signaling mediates recovery from acute kidney injury. Zhang MZ, etal., J Clin Invest. 2012 Dec 3;122(12):4519-32. doi: 10.1172/JCI60363. Epub 2012 Nov 12.
Additional References at PubMed
PMID:1455231   PMID:1531650   PMID:1540160   PMID:1571567   PMID:1733926   PMID:1739124   PMID:1791839   PMID:2145044   PMID:2408759   PMID:2460758   PMID:2660794   PMID:2996129  
PMID:3039346   PMID:3259875   PMID:3264877   PMID:3264878   PMID:3493529   PMID:3498652   PMID:3500041   PMID:7696959   PMID:8086034   PMID:8262907   PMID:8336080   PMID:8355686  
PMID:8422357   PMID:8804363   PMID:8922060   PMID:8981357   PMID:9131001   PMID:9147389   PMID:9632647   PMID:10652277   PMID:10666185   PMID:10857771   PMID:11248655   PMID:11297560  
PMID:11369790   PMID:11387343   PMID:11739737   PMID:11792569   PMID:11843897   PMID:12032835   PMID:12372416   PMID:12393446   PMID:12411027   PMID:12456016   PMID:12477932   PMID:12501178  
PMID:12548211   PMID:12684699   PMID:12749918   PMID:12790839   PMID:12865350   PMID:12890905   PMID:12894871   PMID:12928417   PMID:12929928   PMID:14605992   PMID:14634568   PMID:14654075  
PMID:15001836   PMID:15116247   PMID:15256272   PMID:15261158   PMID:15304486   PMID:15358207   PMID:15489334   PMID:15494511   PMID:15576295   PMID:15624698   PMID:15640942   PMID:15728521  
PMID:15780937   PMID:15820145   PMID:15866728   PMID:15919699   PMID:15944252   PMID:16204228   PMID:16267391   PMID:16318581   PMID:16320327   PMID:16344560   PMID:16407111   PMID:16673212  
PMID:16844084   PMID:16859503   PMID:17108334   PMID:17192722   PMID:17243911   PMID:17244792   PMID:17353186   PMID:17355643   PMID:17368603   PMID:17420255   PMID:17431224   PMID:17443671  
PMID:17516513   PMID:17532041   PMID:17589498   PMID:17907802   PMID:17916748   PMID:17918257   PMID:17922812   PMID:17967422   PMID:18219369   PMID:18322228   PMID:18435789   PMID:18467591  
PMID:18566389   PMID:18606301   PMID:18619508   PMID:18632616   PMID:18668547   PMID:18676750   PMID:18708368   PMID:18718581   PMID:18724005   PMID:18751872   PMID:18852899   PMID:18996518  
PMID:19004987   PMID:19008293   PMID:19017797   PMID:19100238   PMID:19432671   PMID:19443701   PMID:19453261   PMID:19561083   PMID:19641137   PMID:19711348   PMID:19913121   PMID:19926892  
PMID:19950360   PMID:20237496   PMID:20436471   PMID:20452482   PMID:20455868   PMID:20485444   PMID:20504948   PMID:20628086   PMID:20628624   PMID:20673868   PMID:20839008   PMID:20839921  
PMID:20869948   PMID:20925194   PMID:21239715   PMID:21481374   PMID:21623375   PMID:21717212   PMID:21791433   PMID:21854753   PMID:21873635   PMID:21895511   PMID:21938481   PMID:21945122  
PMID:22028782   PMID:22082370   PMID:22153499   PMID:22186992   PMID:22483114   PMID:22678116   PMID:22826234   PMID:22902366   PMID:23061794   PMID:23233531   PMID:23251661   PMID:23260168  
PMID:23285029   PMID:23333304   PMID:23376485   PMID:23471483   PMID:23520016   PMID:23684409   PMID:23688065   PMID:23834954   PMID:23870818   PMID:23924854   PMID:24016870   PMID:24157873  
PMID:24178511   PMID:24415783   PMID:24592910   PMID:24604026   PMID:24748497   PMID:24769444   PMID:24956020   PMID:25066464   PMID:25138985   PMID:25196912   PMID:25313137   PMID:25416956  
PMID:25418473   PMID:25420919   PMID:25721620   PMID:25854167   PMID:25891874   PMID:25935153   PMID:26029847   PMID:26095744   PMID:26235028   PMID:26245897   PMID:26359491   PMID:26376111  
PMID:26439863   PMID:26642091   PMID:26686751   PMID:27013192   PMID:27038418   PMID:27107415   PMID:27173404   PMID:27445439   PMID:27599777   PMID:28131007   PMID:28273887   PMID:28655719  
PMID:28656272   PMID:28687620   PMID:28779164   PMID:28875266   PMID:29117863   PMID:29323162   PMID:29363207   PMID:29422647   PMID:29507755   PMID:29734839   PMID:29767252   PMID:29801457  
PMID:29991678   PMID:30012324   PMID:30052166   PMID:30317027   PMID:30342176   PMID:30580386   PMID:30592292   PMID:30816518   PMID:31028249   PMID:31035945   PMID:31107544   PMID:31217507  
PMID:31469468   PMID:31536655   PMID:31786501   PMID:31859421   PMID:31911555   PMID:31994318   PMID:32149159   PMID:32178869   PMID:32264887   PMID:32296183   PMID:32356483   PMID:32487125  
PMID:33652607   PMID:33764399   PMID:33961781   PMID:34069563   PMID:34298983   PMID:34627193   PMID:34999736   PMID:35075211   PMID:35260161   PMID:35468468   PMID:36071257   PMID:36177809  
PMID:36221069   PMID:36377508   PMID:36502356   PMID:36504457   PMID:36916928   PMID:37097499   PMID:37249291   PMID:37479694   PMID:37638687   PMID:37676642   PMID:38142640   PMID:38142781  
PMID:38159254   PMID:39342173  


Genomics

Comparative Map Data
CSF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381109,910,506 - 109,930,992 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1109,910,242 - 109,930,992 (+)Ensemblhg38GRCh38
GRCh371110,453,471 - 110,473,614 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361110,254,980 - 110,273,878 (+)NCBIBuild 36Build 36hg18NCBI36
Build 341110,165,498 - 110,184,397NCBI
Celera1108,699,836 - 108,719,046 (+)NCBICelera
Cytogenetic Map1p13.3NCBI
HuRef1108,322,980 - 108,343,084 (+)NCBIHuRef
CHM1_11110,568,036 - 110,588,399 (+)NCBICHM1_1
T2T-CHM13v2.01109,920,642 - 109,941,109 (+)NCBIT2T-CHM13v2.0
Csf1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393107,648,364 - 107,668,048 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3107,648,364 - 107,667,785 (-)EnsemblGRCm39 EnsemblGRCm39
GRCm383107,741,048 - 107,760,469 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3107,741,048 - 107,760,469 (-)Ensemblmm10GRCm38
MGSCv373107,543,966 - 107,563,387 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv363107,869,116 - 107,888,525 (-)NCBIMGSCv36mm8
Celera3110,073,392 - 110,092,813 (-)NCBICelera
Cytogenetic Map3F2.3NCBI
cM Map346.83NCBI
Csf1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82198,065,400 - 198,084,774 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl2198,065,405 - 198,084,468 (-)EnsemblGRCr8
mRatBN7.22195,377,215 - 195,396,608 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2195,377,215 - 195,411,704 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx2203,018,890 - 203,037,935 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02200,901,047 - 200,920,075 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02195,717,984 - 195,737,022 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.02210,522,370 - 210,550,546 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2210,522,375 - 210,550,560 (-)Ensemblrn6Rnor6.0
Rnor_5.02229,989,430 - 230,017,945 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.42203,292,765 - 203,307,968 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera2188,024,644 - 188,043,645 (-)NCBICelera
RGSC_v3.12203,255,518 - 203,270,701 (-)NCBI
Cytogenetic Map2q34NCBI
Csf1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543513,404,508 - 13,424,247 (+)Ensembl
ChiLan1.0NW_00495543513,404,236 - 13,423,059 (+)NCBIChiLan1.0ChiLan1.0
CSF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21117,113,655 - 117,134,103 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11116,261,714 - 116,282,024 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01112,555,755 - 112,575,894 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11127,764,916 - 127,864,188 (-)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1127,764,916 - 127,781,943 (-)EnsemblpanPan2panpan1.1
CSF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1642,028,454 - 42,047,028 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl642,034,149 - 42,049,371 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha644,804,295 - 44,823,439 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0642,360,013 - 42,379,162 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl642,360,330 - 42,379,600 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1642,092,785 - 42,111,910 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0642,050,361 - 42,070,486 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0642,485,555 - 42,505,704 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Csf1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505818,720,989 - 18,742,009 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367041,378,103 - 1,393,542 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049367041,372,137 - 1,393,355 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CSF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4110,178,475 - 110,197,900 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.14110,178,466 - 110,198,232 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24120,592,959 - 120,605,764 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CSF1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12023,615,107 - 23,635,399 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603834,824,127 - 34,844,440 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Csf1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247725,663,070 - 5,707,753 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_0046247725,663,374 - 5,705,965 (+)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in CSF1
51 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3 copy number gain See cases [RCV000051827] Chr1:109756630..118650204 [GRCh38]
Chr1:110299252..119192827 [GRCh37]
Chr1:110100775..118994350 [NCBI36]
Chr1:1p13.3-12		 pathogenic
GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1 copy number loss See cases [RCV000053879] Chr1:101618097..111703028 [GRCh38]
Chr1:102083653..112245650 [GRCh37]
Chr1:101856241..112047173 [NCBI36]
Chr1:1p21.2-13.2		 pathogenic
GRCh38/hg38 1p21.1-13.3(chr1:106074587-110144290)x1 copy number loss See cases [RCV000053881] Chr1:106074587..110144290 [GRCh38]
Chr1:106617209..110686912 [GRCh37]
Chr1:106418732..110488435 [NCBI36]
Chr1:1p21.1-13.3		 pathogenic
GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1 copy number loss See cases [RCV000053877] Chr1:97410602..110670510 [GRCh38]
Chr1:97876158..111213132 [GRCh37]
Chr1:97648746..111014655 [NCBI36]
Chr1:1p21.3-13.3		 pathogenic
NM_000757.5(CSF1):c.648C>T (p.Ala216=) single nucleotide variant Malignant melanoma [RCV000064008] Chr1:109923269 [GRCh38]
Chr1:110465891 [GRCh37]
Chr1:110267414 [NCBI36]
Chr1:1p13.3		 not provided
NM_000757.5(CSF1):c.653T>G (p.Val218Gly) single nucleotide variant Malignant melanoma [RCV000064009] Chr1:109923274 [GRCh38]
Chr1:110465896 [GRCh37]
Chr1:110267419 [NCBI36]
Chr1:1p13.3		 not provided
NM_000757.5(CSF1):c.1418C>T (p.Ser473Phe) single nucleotide variant Malignant melanoma [RCV000064010] Chr1:109924039 [GRCh38]
Chr1:110466661 [GRCh37]
Chr1:110268184 [NCBI36]
Chr1:1p13.3		 not provided
GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3 copy number gain See cases [RCV000142953] Chr1:104325484..119977655 [GRCh38]
Chr1:104868106..120471049 [GRCh37]
Chr1:104669629..120321801 [NCBI36]
Chr1:1p21.1-12		 pathogenic
GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1 copy number loss See cases [RCV000142760] Chr1:105468292..112190626 [GRCh38]
Chr1:106010914..112733248 [GRCh37]
Chr1:105812437..112534771 [NCBI36]
Chr1:1p21.1-13.2		 pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_000757.6(CSF1):c.1289C>T (p.Ser430Phe) single nucleotide variant not specified [RCV004324608] Chr1:109923910 [GRCh38]
Chr1:110466532 [GRCh37]
Chr1:1p13.3		 uncertain significance
GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3 copy number gain See cases [RCV000512354] Chr1:93837992..121343783 [GRCh37]
Chr1:1p22.1-11.2		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NC_000001.11:g.(?_103175204)_(111410059_?)del deletion Autism [RCV000754122] Chr1:103175204..111410059 [GRCh38]
Chr1:1p21.1-13.2		 likely pathogenic
GRCh37/hg19 1p22.1-13.3(chr1:94054724-111671707)x3 copy number gain not provided [RCV000749068] Chr1:94054724..111671707 [GRCh37]
Chr1:1p22.1-13.3		 pathogenic
NM_000757.6(CSF1):c.1592C>T (p.Ala531Val) single nucleotide variant not provided [RCV000922333] Chr1:109924798 [GRCh38]
Chr1:110467420 [GRCh37]
Chr1:1p13.3		 likely benign
Single allele deletion 1p13.3 deletion syndrome [RCV000786772] Chr1:107779092..111199205 [GRCh37]
Chr1:1p13.3		 likely pathogenic
Single allele deletion not provided [RCV000844956] Chr1:108926313..111266497 [GRCh37]
Chr1:1p13.3		 not provided
NM_000757.6(CSF1):c.1533C>T (p.Ala511=) single nucleotide variant not provided [RCV000893543] Chr1:109924154 [GRCh38]
Chr1:110466776 [GRCh37]
Chr1:1p13.3		 benign
GRCh37/hg19 1p13.3(chr1:110295035-110587956)x1 copy number loss not provided [RCV000847637] Chr1:110295035..110587956 [GRCh37]
Chr1:1p13.3		 uncertain significance
NC_000001.10:g.(?_108679275)_(111674176_?)del deletion Hereditary spastic paraplegia 63 [RCV003105726] Chr1:108679275..111674176 [GRCh37]
Chr1:1p13.3		 pathogenic
NM_000757.6(CSF1):c.1212G>A (p.Arg404=) single nucleotide variant not provided [RCV000911636] Chr1:109923833 [GRCh38]
Chr1:110466455 [GRCh37]
Chr1:1p13.3		 benign
NM_000757.6(CSF1):c.876G>A (p.Glu292=) single nucleotide variant not provided [RCV000955743] Chr1:109923497 [GRCh38]
Chr1:110466119 [GRCh37]
Chr1:1p13.3		 benign
GRCh37/hg19 1p21.2-12(chr1:102021465-119737478) copy number loss Seizure [RCV001352640] Chr1:102021465..119737478 [GRCh37]
Chr1:1p21.2-12		 pathogenic
GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931) copy number loss not specified [RCV002053503] Chr1:95046805..114714931 [GRCh37]
Chr1:1p21.3-13.2		 pathogenic
NM_000757.6(CSF1):c.465A>C (p.Glu155Asp) single nucleotide variant not specified [RCV004299679] Chr1:109921915 [GRCh38]
Chr1:110464537 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.733G>C (p.Asp245His) single nucleotide variant not specified [RCV004319062] Chr1:109923354 [GRCh38]
Chr1:110465976 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.959G>T (p.Gly320Val) single nucleotide variant not specified [RCV004194501] Chr1:109923580 [GRCh38]
Chr1:110466202 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.844C>A (p.Pro282Thr) single nucleotide variant not specified [RCV004136200] Chr1:109923465 [GRCh38]
Chr1:110466087 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.7G>A (p.Ala3Thr) single nucleotide variant not specified [RCV004157024] Chr1:109911030 [GRCh38]
Chr1:110453652 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.776A>G (p.Gln259Arg) single nucleotide variant not specified [RCV004229943] Chr1:109923397 [GRCh38]
Chr1:110466019 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.1292C>T (p.Ser431Leu) single nucleotide variant not specified [RCV004077172] Chr1:109923913 [GRCh38]
Chr1:110466535 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.1577A>G (p.Gln526Arg) single nucleotide variant not specified [RCV004160980] Chr1:109924783 [GRCh38]
Chr1:110467405 [GRCh37]
Chr1:1p13.3		 likely benign
NM_000757.6(CSF1):c.392A>C (p.Asp131Ala) single nucleotide variant not specified [RCV004213666] Chr1:109917459 [GRCh38]
Chr1:110460081 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.826G>A (p.Gly276Ser) single nucleotide variant not specified [RCV004191300] Chr1:109923447 [GRCh38]
Chr1:110466069 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.416A>G (p.Tyr139Cys) single nucleotide variant not specified [RCV004272603] Chr1:109921866 [GRCh38]
Chr1:110464488 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.1346G>A (p.Arg449Gln) single nucleotide variant not specified [RCV005328723] Chr1:109923967 [GRCh38]
Chr1:110466589 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.10C>T (p.Pro4Ser) single nucleotide variant not specified [RCV004348383] Chr1:109911033 [GRCh38]
Chr1:110453655 [GRCh37]
Chr1:1p13.3		 uncertain significance
GRCh37/hg19 1p13.3-13.2(chr1:109483388-112293512)x1 copy number loss not provided [RCV003483272] Chr1:109483388..112293512 [GRCh37]
Chr1:1p13.3-13.2		 pathogenic
GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1 copy number loss not provided [RCV003483294] Chr1:110066946..116672408 [GRCh37]
Chr1:1p13.3-13.1		 pathogenic
GRCh37/hg19 1p13.3-13.2(chr1:109700156-112176616)x1 copy number loss not specified [RCV003987183] Chr1:109700156..112176616 [GRCh37]
Chr1:1p13.3-13.2		 uncertain significance
NM_000757.6(CSF1):c.1442A>T (p.His481Leu) single nucleotide variant not specified [RCV004370307] Chr1:109924063 [GRCh38]
Chr1:110466685 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.1484A>G (p.Glu495Gly) single nucleotide variant not specified [RCV004370308] Chr1:109924105 [GRCh38]
Chr1:110466727 [GRCh37]
Chr1:1p13.3		 likely benign
NM_000757.6(CSF1):c.631C>T (p.Leu211Phe) single nucleotide variant not specified [RCV004370312] Chr1:109923252 [GRCh38]
Chr1:110465874 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.857C>A (p.Ala286Asp) single nucleotide variant not specified [RCV004370315] Chr1:109923478 [GRCh38]
Chr1:110466100 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.35C>G (p.Pro12Arg) single nucleotide variant not specified [RCV004370309] Chr1:109911058 [GRCh38]
Chr1:110453680 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.403G>C (p.Val135Leu) single nucleotide variant not specified [RCV004370311] Chr1:109921853 [GRCh38]
Chr1:110464475 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.1345C>T (p.Arg449Trp) single nucleotide variant not specified [RCV004370306] Chr1:109923966 [GRCh38]
Chr1:110466588 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.1300G>C (p.Val434Leu) single nucleotide variant not specified [RCV004370305] Chr1:109923921 [GRCh38]
Chr1:110466543 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.743G>A (p.Ser248Asn) single nucleotide variant not specified [RCV004370313] Chr1:109923364 [GRCh38]
Chr1:110465986 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.760C>T (p.Pro254Ser) single nucleotide variant not specified [RCV004613552] Chr1:109923381 [GRCh38]
Chr1:110466003 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.1234G>A (p.Gly412Ser) single nucleotide variant not specified [RCV004613555] Chr1:109923855 [GRCh38]
Chr1:110466477 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.1534G>A (p.Val512Ile) single nucleotide variant not specified [RCV004613547] Chr1:109924155 [GRCh38]
Chr1:110466777 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.1633C>G (p.Gln545Glu) single nucleotide variant not specified [RCV004613548] Chr1:109925157 [GRCh38]
Chr1:110467779 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.1076C>T (p.Pro359Leu) single nucleotide variant not specified [RCV004613551] Chr1:109923697 [GRCh38]
Chr1:110466319 [GRCh37]
Chr1:1p13.3		 likely benign
NM_000757.6(CSF1):c.1362G>T (p.Glu454Asp) single nucleotide variant not specified [RCV004613554] Chr1:109923983 [GRCh38]
Chr1:110466605 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.1409G>A (p.Arg470His) single nucleotide variant not specified [RCV004613546] Chr1:109924030 [GRCh38]
Chr1:110466652 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.467C>T (p.Thr156Ile) single nucleotide variant not specified [RCV004613553] Chr1:109921917 [GRCh38]
Chr1:110464539 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.535T>G (p.Ser179Ala) single nucleotide variant not specified [RCV004613549] Chr1:109921985 [GRCh38]
Chr1:110464607 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.521G>T (p.Ser174Ile) single nucleotide variant not specified [RCV004905513] Chr1:109921971 [GRCh38]
Chr1:110464593 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.850G>C (p.Val284Leu) single nucleotide variant not specified [RCV004905514] Chr1:109923471 [GRCh38]
Chr1:110466093 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.1193C>T (p.Pro398Leu) single nucleotide variant not specified [RCV004905515] Chr1:109923814 [GRCh38]
Chr1:110466436 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.1300G>A (p.Val434Met) single nucleotide variant not specified [RCV004905516] Chr1:109923921 [GRCh38]
Chr1:110466543 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.1408C>T (p.Arg470Cys) single nucleotide variant not specified [RCV004905518] Chr1:109924029 [GRCh38]
Chr1:110466651 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.1420G>C (p.Val474Leu) single nucleotide variant not specified [RCV004905519] Chr1:109924041 [GRCh38]
Chr1:110466663 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.1019C>G (p.Pro340Arg) single nucleotide variant not specified [RCV004905520] Chr1:109923640 [GRCh38]
Chr1:110466262 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.180G>T (p.Glu60Asp) single nucleotide variant not specified [RCV004905521] Chr1:109915651 [GRCh38]
Chr1:110458273 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.802G>A (p.Val268Ile) single nucleotide variant not specified [RCV004905522] Chr1:109923423 [GRCh38]
Chr1:110466045 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.340G>A (p.Glu114Lys) single nucleotide variant not specified [RCV004905523] Chr1:109917407 [GRCh38]
Chr1:110460029 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.952C>T (p.Pro318Ser) single nucleotide variant not specified [RCV005325031] Chr1:109923573 [GRCh38]
Chr1:110466195 [GRCh37]
Chr1:1p13.3		 likely benign
NM_000757.6(CSF1):c.1052C>T (p.Pro351Leu) single nucleotide variant not specified [RCV005325032] Chr1:109923673 [GRCh38]
Chr1:110466295 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.185C>T (p.Ser62Leu) single nucleotide variant not specified [RCV005325033] Chr1:109915656 [GRCh38]
Chr1:110458278 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.409A>G (p.Thr137Ala) single nucleotide variant not specified [RCV005325034] Chr1:109921859 [GRCh38]
Chr1:110464481 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.941A>G (p.Glu314Gly) single nucleotide variant not specified [RCV005325036] Chr1:109923562 [GRCh38]
Chr1:110466184 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.754C>T (p.Arg252Trp) single nucleotide variant not specified [RCV005325037] Chr1:109923375 [GRCh38]
Chr1:110465997 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.1121G>T (p.Arg374Met) single nucleotide variant not specified [RCV005325038] Chr1:109923742 [GRCh38]
Chr1:110466364 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.1460G>C (p.Gly487Ala) single nucleotide variant not specified [RCV005325039] Chr1:109924081 [GRCh38]
Chr1:110466703 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.1256T>G (p.Leu419Arg) single nucleotide variant not specified [RCV005325040] Chr1:109923877 [GRCh38]
Chr1:110466499 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.389A>G (p.His130Arg) single nucleotide variant not specified [RCV005325041] Chr1:109917456 [GRCh38]
Chr1:110460078 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_000757.6(CSF1):c.1307C>A (p.Pro436His) single nucleotide variant not specified [RCV005325042] Chr1:109923928 [GRCh38]
Chr1:110466550 [GRCh37]
Chr1:1p13.3		 uncertain significance
miRNA Target Status (No longer updated)

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR130Bhsa-miR-130b-3pMirtarbaseexternal_infoELISA//Luciferase reporter assay//qRT-PCRFunctional MTI22005523
MIR130Bhsa-miR-130b-3pOncomiRDBexternal_infoNANA22005523
MIR130Ahsa-miR-130a-3pMirtarbaseexternal_infoLuciferase reporter assay//Reporter assayFunctional MTI14697198
MIR130Ahsa-miR-130a-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI18823650
MIR130Ahsa-miR-130a-5pMirecordsexternal_infoNANA14697198
MIR130Ahsa-miR-130a-5pMirecordsexternal_infoNANA18823650

Predicted Target Of
Summary Value
Count of predictions:4137
Count of miRNA genes:1126
Interacting mature miRNAs:1433
Transcripts:ENST00000329608, ENST00000344188, ENST00000357302, ENST00000369801, ENST00000369802, ENST00000420111, ENST00000488198, ENST00000525659, ENST00000526001, ENST00000527192
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597237018GWAS1333092_Hmonocyte count QTL GWAS1333092 (human)3e-15monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)1109928142109928143Human
597155743GWAS1251817_Hfree cholesterol measurement, high density lipoprotein cholesterol measurement QTL GWAS1251817 (human)1e-08arterial blood pressure trait (VT:2000000)blood adiponectin level (CMO:0000485)1109928142109928143Human
597245972GWAS1342046_Hhigh density lipoprotein cholesterol measurement QTL GWAS1342046 (human)4e-22blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)1109928142109928143Human
597606291GWAS1663151_Haspartate aminotransferase to alanine aminotransferase ratio QTL GWAS1663151 (human)2e-25blood cystatin C amount (VT:0010743)blood cystatin C level (CMO:0002777)1109928142109928143Human
597144218GWAS1240292_Haspartate aminotransferase measurement QTL GWAS1240292 (human)5e-47blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)1109928142109928143Human
597140760GWAS1236834_Hhigh density lipoprotein cholesterol measurement QTL GWAS1236834 (human)9e-25blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)1109928142109928143Human
597133848GWAS1229922_Hhigh density lipoprotein cholesterol measurement QTL GWAS1229922 (human)3e-17blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)1109928142109928143Human
597199639GWAS1295713_Haspartate aminotransferase measurement QTL GWAS1295713 (human)5e-23blood aspartate transaminase amount (VT:0000203)blood aspartate aminotransferase activity level (CMO:0000580)1109928142109928143Human
597264008GWAS1360082_Hhigh density lipoprotein cholesterol measurement QTL GWAS1360082 (human)4e-25blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)1109928142109928143Human
597101953GWAS1198027_Haspartate aminotransferase measurement QTL GWAS1198027 (human)2e-64blood aspartate transaminase amount (VT:0000203)blood aspartate aminotransferase activity level (CMO:0000580)1109928142109928143Human
597266304GWAS1362378_Hcup-to-disc ratio measurement QTL GWAS1362378 (human)3e-08optic disc morphology trait (VT:0006215)1109923716109923717Human
597597956GWAS1654816_Haspartate aminotransferase to alanine aminotransferase ratio QTL GWAS1654816 (human)8e-23aspartate aminotransferase to alanine aminotransferase ratioserum aspartate aminotransferase activity level to alanine aminotransferase activity level ratio (CMO:0002245)1109928142109928143Human
597157387GWAS1253461_Htriglyceride:HDL cholesterol ratio QTL GWAS1253461 (human)7e-13blood triglyceride amount (VT:0002644)1109928142109928143Human
597103499GWAS1199573_Hplatelet crit QTL GWAS1199573 (human)1e-15platelet quantity (VT:0003179)plateletcrit (CMO:0001349)1109928142109928143Human
406972636GWAS621612_Hmonocyte count QTL GWAS621612 (human)9e-17monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)1109928142109928143Human
597297797GWAS1393871_Hlymphocyte count QTL GWAS1393871 (human)4e-15lymphocyte quantity (VT:0000717)blood lymphocyte count (CMO:0000031)1109928142109928143Human
596971445GWAS1090964_Hdiastolic blood pressure QTL GWAS1090964 (human)4e-08diastolic blood pressure1109928142109928143Human
596958775GWAS1078294_Hfree cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1078294 (human)1e-09free cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement1109928142109928143Human
597078067GWAS1174141_Hplatelet count QTL GWAS1174141 (human)1e-29platelet quantity (VT:0003179)platelet count (CMO:0000029)1109928142109928143Human
1300021BP45_HBlood pressure QTL 45 (human)1.770.00218Blood pressuresystolic1103389009129389009Human
597224510GWAS1320584_Hcystatin C measurement QTL GWAS1320584 (human)2e-25cystatin C measurement1109928142109928143Human
407022186GWAS671162_Hplatelet count QTL GWAS671162 (human)1e-27platelet quantity (VT:0003179)platelet count (CMO:0000029)1109928142109928143Human
596959805GWAS1079324_Hglomerular filtration rate QTL GWAS1079324 (human)3e-36glomerular filtration rate1109928142109928143Human
597261490GWAS1357564_Htype 2 diabetes mellitus QTL GWAS1357564 (human)1e-14type 2 diabetes mellitus1109917523109917524Human
597159097GWAS1255171_Htriglyceride:HDL cholesterol ratio QTL GWAS1255171 (human)0.000002blood triglyceride amount (VT:0002644)1109928142109928143Human
597096480GWAS1192554_Hhigh density lipoprotein cholesterol measurement QTL GWAS1192554 (human)6e-09blood cholesterol amount (VT:0000180)blood total cholesterol level (CMO:0000051)1109928142109928143Human
597301677GWAS1397751_Hfree cholesterol measurement, high density lipoprotein cholesterol measurement QTL GWAS1397751 (human)9e-09blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)1109928142109928143Human
597452068GWAS1548142_Haspartate aminotransferase measurement QTL GWAS1548142 (human)9e-14blood aspartate transaminase amount (VT:0000203)blood aspartate aminotransferase activity level (CMO:0000580)1109926435109926436Human
597100206GWAS1196280_Haspartate aminotransferase measurement QTL GWAS1196280 (human)3e-26blood aspartate transaminase amount (VT:0000203)blood aspartate aminotransferase activity level (CMO:0000580)1109928142109928143Human
597088684GWAS1184758_Hmonocyte percentage of leukocytes QTL GWAS1184758 (human)6e-14monocyte quantity (VT:0000223)blood monocyte count to total leukocyte count ratio (CMO:0000374)1109928142109928143Human
597099177GWAS1195251_Hmonocyte count QTL GWAS1195251 (human)2e-44monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)1109928142109928143Human
597071657GWAS1167731_Hcreatine kinase measurement QTL GWAS1167731 (human)1e-40blood creatine kinase amount (VT:1000047)blood creatine kinase activity level (CMO:0002242)1109928142109928143Human
407053315GWAS702291_HL lactate dehydrogenase measurement QTL GWAS702291 (human)3e-10blood protein measurement1109928142109928143Human
597142741GWAS1238815_Hhigh density lipoprotein cholesterol measurement QTL GWAS1238815 (human)1e-09blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)1109928142109928143Human
597151572GWAS1247646_Hlipid measurement, high density lipoprotein cholesterol measurement QTL GWAS1247646 (human)8e-09blood HDL cholesterol amount (VT:0000184)platelet count (CMO:0000029)1109928142109928143Human
597282653GWAS1378727_Hcholesteryl esters:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1378727 (human)6e-10blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)1109928142109928143Human
597083345GWAS1179419_Hmonocyte count QTL GWAS1179419 (human)1e-45monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)1109928142109928143Human
597287646GWAS1383720_Hdiastolic blood pressure QTL GWAS1383720 (human)4e-08arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)1109928142109928143Human
596971225GWAS1090744_Hdiastolic blood pressure QTL GWAS1090744 (human)2e-09diastolic blood pressure1109928142109928143Human
597253205GWAS1349279_Haspartate aminotransferase measurement QTL GWAS1349279 (human)6e-51blood aspartate transaminase amount (VT:0000203)blood aspartate aminotransferase activity level (CMO:0000580)1109928142109928143Human
597224021GWAS1320095_Haspartate aminotransferase to alanine aminotransferase ratio QTL GWAS1320095 (human)2e-22aspartate aminotransferase to alanine aminotransferase ratioserum aspartate aminotransferase activity level to alanine aminotransferase activity level ratio (CMO:0002245)1109928142109928143Human
407306262GWAS955238_Hlymphocyte count QTL GWAS955238 (human)4e-21lymphocyte quantity (VT:0000717)blood lymphocyte count (CMO:0000031)1109928142109928143Human
597080772GWAS1176846_Hmonocyte count QTL GWAS1176846 (human)1e-33monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)1109928142109928143Human
597321422GWAS1417496_Hotosclerosis QTL GWAS1417496 (human)0.0000004otosclerosis1109925387109925388Human
597609803GWAS1666663_Haspartate aminotransferase to alanine aminotransferase ratio QTL GWAS1666663 (human)2e-46aspartate aminotransferase to alanine aminotransferase ratioserum aspartate aminotransferase activity level to alanine aminotransferase activity level ratio (CMO:0002245)1109928142109928143Human
597605577GWAS1662437_Haspartate aminotransferase to alanine aminotransferase ratio QTL GWAS1662437 (human)3e-42aspartate aminotransferase to alanine aminotransferase ratioserum aspartate aminotransferase activity level to alanine aminotransferase activity level ratio (CMO:0002245)1109928142109928143Human
597023053GWAS1119127_Hhigh density lipoprotein cholesterol measurement QTL GWAS1119127 (human)0.000001blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)1109928142109928143Human
597598148GWAS1655008_Haspartate aminotransferase to alanine aminotransferase ratio QTL GWAS1655008 (human)4e-32aspartate aminotransferase to alanine aminotransferase ratioserum aspartate aminotransferase activity level to alanine aminotransferase activity level ratio (CMO:0002245)1109928142109928143Human
597072717GWAS1168791_HL lactate dehydrogenase measurement QTL GWAS1168791 (human)3e-23L lactate dehydrogenase measurement1109928142109928143Human
597251013GWAS1347087_Hapolipoprotein A 1 measurement QTL GWAS1347087 (human)2e-11apolipoprotein A 1 measurementblood apolipoprotein AI level (CMO:0000520)1109928142109928143Human
597169732GWAS1265806_Haspartate aminotransferase measurement QTL GWAS1265806 (human)2e-78blood aspartate transaminase amount (VT:0000203)blood aspartate aminotransferase activity level (CMO:0000580)1109928142109928143Human
597066226GWAS1162300_Hhigh density lipoprotein cholesterol measurement QTL GWAS1162300 (human)2e-12blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)1109928142109928143Human
597288063GWAS1384137_Hdiastolic blood pressure QTL GWAS1384137 (human)2e-09arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)1109928142109928143Human
597160958GWAS1257032_Htotal blood protein measurement QTL GWAS1257032 (human)3e-11blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)1109928142109928143Human
407250604GWAS899580_Hlymphocyte count QTL GWAS899580 (human)4e-23lymphocyte quantity (VT:0000717)blood lymphocyte count (CMO:0000031)1109928142109928143Human
597586416GWAS1643276_Htype 2 diabetes mellitus QTL GWAS1643276 (human)8e-13blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)1109928142109928143Human
597313515GWAS1409589_Htotal blood protein measurement QTL GWAS1409589 (human)6e-18blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)1109928142109928143Human
597167211GWAS1263285_Haspartate aminotransferase measurement QTL GWAS1263285 (human)1e-31blood aspartate transaminase amount (VT:0000203)blood aspartate aminotransferase activity level (CMO:0000580)1109928142109928143Human
597453803GWAS1549877_Haspartate aminotransferase to alanine aminotransferase ratio QTL GWAS1549877 (human)1e-09aspartate aminotransferase to alanine aminotransferase ratioserum aspartate aminotransferase activity level to alanine aminotransferase activity level ratio (CMO:0002245)1109926435109926436Human
597071343GWAS1167417_Haspartate aminotransferase measurement QTL GWAS1167417 (human)1e-25blood aspartate transaminase amount (VT:0000203)blood monocyte count (CMO:0000032)1109928142109928143Human
597102572GWAS1198646_Hplatelet count QTL GWAS1198646 (human)5e-16platelet quantity (VT:0003179)platelet count (CMO:0000029)1109928142109928143Human
597598177GWAS1655037_Haspartate aminotransferase to alanine aminotransferase ratio QTL GWAS1655037 (human)2e-32aspartate aminotransferase to alanine aminotransferase ratioserum aspartate aminotransferase activity level to alanine aminotransferase activity level ratio (CMO:0002245)1109928142109928143Human

Markers in Region
D1S3360  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371110,473,338 - 110,473,447UniSTSGRCh37
Build 361110,274,861 - 110,274,970RGDNCBI36
Celera1108,720,029 - 108,720,138RGD
Cytogenetic Map1p13.3UniSTS
HuRef1108,342,806 - 108,342,915UniSTS
Whitehead-YAC Contig Map1 UniSTS
SHGC-75281  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371110,471,508 - 110,471,649UniSTSGRCh37
Build 361110,273,031 - 110,273,172RGDNCBI36
Celera1108,718,199 - 108,718,340RGD
Cytogenetic Map1p13.3UniSTS
HuRef1108,340,976 - 108,341,117UniSTS
TNG Radiation Hybrid Map160015.0UniSTS
GeneMap99-GB4 RH Map1339.02UniSTS
GDB:624800  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p13.3UniSTS
GDB:624803  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p13.3UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2435 2788 2242 4968 1724 2347 5 624 1917 465 2269 7277 6446 53 3729 1 852 1742 1613 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_030008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_172210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_172211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_172212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB208952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI758702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL450468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS166282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS166284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS166286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA414355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB287787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HG005314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI519552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI638410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI638412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI638414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA312075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA312077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA312079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JF803735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC461699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M27087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M37435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M64592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M76453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OP294996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U22386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X05825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X06106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000329608   ⟹   ENSP00000327513
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1109,910,849 - 109,930,992 (+)Ensembl
Ensembl Acc Id: ENST00000357302   ⟹   ENSP00000349854
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1109,910,605 - 109,917,425 (+)Ensembl
Ensembl Acc Id: ENST00000369801   ⟹   ENSP00000358816
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1109,910,986 - 109,925,198 (+)Ensembl
Ensembl Acc Id: ENST00000369802   ⟹   ENSP00000358817
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1109,910,899 - 109,926,743 (+)Ensembl
Ensembl Acc Id: ENST00000420111   ⟹   ENSP00000407317
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1109,910,908 - 109,929,034 (+)Ensembl
Ensembl Acc Id: ENST00000488198   ⟹   ENSP00000433837
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1109,910,870 - 109,923,599 (+)Ensembl
Ensembl Acc Id: ENST00000525659   ⟹   ENSP00000431547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1109,910,506 - 109,921,913 (+)Ensembl
Ensembl Acc Id: ENST00000526001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1109,915,657 - 109,922,549 (+)Ensembl
Ensembl Acc Id: ENST00000527192   ⟹   ENSP00000434527
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1109,910,242 - 109,921,880 (+)Ensembl
RefSeq Acc Id: NM_000757   ⟹   NP_000748
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381109,910,849 - 109,930,992 (+)NCBI
GRCh371110,453,233 - 110,473,616 (+)NCBI
Build 361110,254,980 - 110,273,878 (+)NCBI Archive
HuRef1108,322,980 - 108,343,084 (+)NCBI
CHM1_11110,568,036 - 110,588,399 (+)NCBI
T2T-CHM13v2.01109,920,986 - 109,941,109 (+)NCBI
Sequence:
RefSeq Acc Id: NM_172210   ⟹   NP_757349
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381109,910,849 - 109,925,202 (+)NCBI
GRCh371110,453,233 - 110,473,616 (+)NCBI
Build 361110,254,980 - 110,269,347 (+)NCBI Archive
HuRef1108,322,980 - 108,343,084 (+)NCBI
CHM1_11110,568,036 - 110,582,607 (+)NCBI
T2T-CHM13v2.01109,920,986 - 109,935,319 (+)NCBI
Sequence:
RefSeq Acc Id: NM_172211   ⟹   NP_757350
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381109,910,849 - 109,930,992 (+)NCBI
GRCh371110,453,233 - 110,473,616 (+)NCBI
Build 361110,254,980 - 110,273,878 (+)NCBI Archive
HuRef1108,322,980 - 108,343,084 (+)NCBI
CHM1_11110,568,036 - 110,588,399 (+)NCBI
T2T-CHM13v2.01109,920,986 - 109,941,109 (+)NCBI
Sequence:
RefSeq Acc Id: NM_172212   ⟹   NP_757351
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381109,910,849 - 109,926,744 (+)NCBI
GRCh371110,453,233 - 110,473,616 (+)NCBI
Build 361110,254,980 - 110,270,888 (+)NCBI Archive
HuRef1108,322,980 - 108,343,084 (+)NCBI
CHM1_11110,568,036 - 110,584,148 (+)NCBI
T2T-CHM13v2.01109,920,986 - 109,936,861 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017000369   ⟹   XP_016855858
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381109,910,506 - 109,930,992 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047446752   ⟹   XP_047302708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381109,910,849 - 109,926,744 (+)NCBI
RefSeq Acc Id: XM_054334539   ⟹   XP_054190514
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01109,920,648 - 109,941,109 (+)NCBI
RefSeq Acc Id: XM_054334540   ⟹   XP_054190515
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01109,920,738 - 109,936,861 (+)NCBI
RefSeq Acc Id: XM_054334541   ⟹   XP_054190516
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01109,920,642 - 109,941,109 (+)NCBI
RefSeq Acc Id: XM_054334542   ⟹   XP_054190517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01109,920,986 - 109,936,861 (+)NCBI
RefSeq Acc Id: XM_054334543   ⟹   XP_054190518
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01109,920,676 - 109,941,109 (+)NCBI
Protein Sequences
Protein RefSeqs NP_000748 (Get FASTA)   NCBI Sequence Viewer  
  NP_757349 (Get FASTA)   NCBI Sequence Viewer  
  NP_757350 (Get FASTA)   NCBI Sequence Viewer  
  NP_757351 (Get FASTA)   NCBI Sequence Viewer  
  XP_016855858 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302708 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190514 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190515 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190516 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190517 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190518 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA52117 (Get FASTA)   NCBI Sequence Viewer  
  AAA52120 (Get FASTA)   NCBI Sequence Viewer  
  AAA59572 (Get FASTA)   NCBI Sequence Viewer  
  AAA59573 (Get FASTA)   NCBI Sequence Viewer  
  AAA64849 (Get FASTA)   NCBI Sequence Viewer  
  AAB59527 (Get FASTA)   NCBI Sequence Viewer  
  AAH21117 (Get FASTA)   NCBI Sequence Viewer  
  AEF12310 (Get FASTA)   NCBI Sequence Viewer  
  BAD92189 (Get FASTA)   NCBI Sequence Viewer  
  BAF84349 (Get FASTA)   NCBI Sequence Viewer  
  BAG62132 (Get FASTA)   NCBI Sequence Viewer  
  CAA29265 (Get FASTA)   NCBI Sequence Viewer  
  CAA29479 (Get FASTA)   NCBI Sequence Viewer  
  CAJ32234 (Get FASTA)   NCBI Sequence Viewer  
  CAJ32235 (Get FASTA)   NCBI Sequence Viewer  
  CAJ32236 (Get FASTA)   NCBI Sequence Viewer  
  CBX54357 (Get FASTA)   NCBI Sequence Viewer  
  CBX55878 (Get FASTA)   NCBI Sequence Viewer  
  CBX55879 (Get FASTA)   NCBI Sequence Viewer  
  CBX55880 (Get FASTA)   NCBI Sequence Viewer  
  CCA65433 (Get FASTA)   NCBI Sequence Viewer  
  CCA65434 (Get FASTA)   NCBI Sequence Viewer  
  CCA65435 (Get FASTA)   NCBI Sequence Viewer  
  EAW56416 (Get FASTA)   NCBI Sequence Viewer  
  EAW56417 (Get FASTA)   NCBI Sequence Viewer  
  EAW56418 (Get FASTA)   NCBI Sequence Viewer  
  EAW56419 (Get FASTA)   NCBI Sequence Viewer  
  EAW56420 (Get FASTA)   NCBI Sequence Viewer  
  EAW56421 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000327513
  ENSP00000327513.6
  ENSP00000358816
  ENSP00000358816.1
  ENSP00000358817
  ENSP00000358817.3
  ENSP00000407317
  ENSP00000407317.2
GenBank Protein P09603 (Get FASTA)   NCBI Sequence Viewer  
  WBW48457 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_000748   ⟸   NM_000757
- Peptide Label: isoform a precursor
- UniProtKB: Q5VVF4 (UniProtKB/Swiss-Prot),   Q5VVF3 (UniProtKB/Swiss-Prot),   Q14806 (UniProtKB/Swiss-Prot),   Q14086 (UniProtKB/Swiss-Prot),   Q13130 (UniProtKB/Swiss-Prot),   P09603 (UniProtKB/Swiss-Prot),   A8K6J5 (UniProtKB/Swiss-Prot),   Q9UQR8 (UniProtKB/Swiss-Prot),   B4DTX0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_757350   ⟸   NM_172211
- Peptide Label: isoform c precursor
- Sequence:
RefSeq Acc Id: NP_757351   ⟸   NM_172212
- Peptide Label: isoform a precursor
- UniProtKB: Q5VVF4 (UniProtKB/Swiss-Prot),   Q5VVF3 (UniProtKB/Swiss-Prot),   Q14806 (UniProtKB/Swiss-Prot),   Q14086 (UniProtKB/Swiss-Prot),   Q13130 (UniProtKB/Swiss-Prot),   P09603 (UniProtKB/Swiss-Prot),   A8K6J5 (UniProtKB/Swiss-Prot),   Q9UQR8 (UniProtKB/Swiss-Prot),   B4DTX0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_757349   ⟸   NM_172210
- Peptide Label: isoform b precursor
- Sequence:
RefSeq Acc Id: XP_016855858   ⟸   XM_017000369
- Peptide Label: isoform X1
- UniProtKB: B4DTX0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000327513   ⟸   ENST00000329608
Ensembl Acc Id: ENSP00000431547   ⟸   ENST00000525659
Ensembl Acc Id: ENSP00000358817   ⟸   ENST00000369802
Ensembl Acc Id: ENSP00000358816   ⟸   ENST00000369801
Ensembl Acc Id: ENSP00000407317   ⟸   ENST00000420111
Ensembl Acc Id: ENSP00000434527   ⟸   ENST00000527192
Ensembl Acc Id: ENSP00000433837   ⟸   ENST00000488198
Ensembl Acc Id: ENSP00000349854   ⟸   ENST00000357302
RefSeq Acc Id: XP_047302708   ⟸   XM_047446752
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054190516   ⟸   XM_054334541
- Peptide Label: isoform X1
- UniProtKB: B4DTX0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054190514   ⟸   XM_054334539
- Peptide Label: isoform X3
- UniProtKB: B4DTX0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054190518   ⟸   XM_054334543
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054190515   ⟸   XM_054334540
- Peptide Label: isoform X3
- UniProtKB: B4DTX0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054190517   ⟸   XM_054334542
- Peptide Label: isoform X2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P09603-F1-model_v2 AlphaFold P09603 1-554 view protein structure

Promoters
RGD ID:6856530
Promoter ID:EPDNEW_H1430
Type:initiation region
Name:CSF1_2
Description:colony stimulating factor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1431  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381109,910,621 - 109,910,681EPDNEW
RGD ID:6856532
Promoter ID:EPDNEW_H1431
Type:initiation region
Name:CSF1_1
Description:colony stimulating factor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1430  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381109,910,849 - 109,910,909EPDNEW
RGD ID:6784973
Promoter ID:HG_KWN:4030
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000344188,   ENST00000357302,   NM_172210,   NM_172212,   OTTHUMT00000032208,   OTTHUMT00000032212
Position:
Human AssemblyChrPosition (strand)Source
Build 361110,254,756 - 110,255,256 (+)MPROMDB
RGD ID:6850146
Promoter ID:EP37006
Type:single initiation site
Name:HS_CSF1
Description:Colony-stimulating factor-1, CSF1 gene.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Notes:homology_group=Homology group 213; Mammalian colony stimulating factor 1
Experiment Methods:Sequencing of a full-length cDNA; Primer extension with homologous sequence ladder; experiments; performed with closely related gene
Regulation:various tissues; (induced by or strongly expressed in) proliferation
Position:
Human AssemblyChrPosition (strand)Source
Build 361110,254,991 - 110,255,051EPD
RGD ID:6784971
Promoter ID:HG_KWN:4031
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000032211
Position:
Human AssemblyChrPosition (strand)Source
Build 361110,258,251 - 110,258,751 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2432 AgrOrtholog
COSMIC CSF1 COSMIC
Ensembl Genes ENSG00000184371 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000329608 ENTREZGENE
  ENST00000329608.11 UniProtKB/Swiss-Prot
  ENST00000369801 ENTREZGENE
  ENST00000369801.1 UniProtKB/Swiss-Prot
  ENST00000369802 ENTREZGENE
  ENST00000369802.7 UniProtKB/Swiss-Prot
  ENST00000420111 ENTREZGENE
  ENST00000420111.6 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1250.10 UniProtKB/Swiss-Prot
GTEx ENSG00000184371 GTEx
HGNC ID HGNC:2432 ENTREZGENE
Human Proteome Map CSF1 Human Proteome Map
InterPro 4_helix_cytokine-like_core UniProtKB/Swiss-Prot
  MCSF-1 UniProtKB/Swiss-Prot
KEGG Report hsa:1435 UniProtKB/Swiss-Prot
NCBI Gene 1435 ENTREZGENE
OMIM 120420 OMIM
PANTHER MACROPHAGE COLONY-STIMULATING FACTOR 1 UniProtKB/Swiss-Prot
  PTHR10058 UniProtKB/Swiss-Prot
Pfam CSF-1 UniProtKB/Swiss-Prot
PharmGKB PA26935 PharmGKB
PIRSF MCSF-1 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47266 UniProtKB/Swiss-Prot
UniProt A8K6J5 ENTREZGENE
  B4DTX0 ENTREZGENE, UniProtKB/TrEMBL
  CSF1_HUMAN UniProtKB/Swiss-Prot
  E9PJA2_HUMAN UniProtKB/TrEMBL
  E9PKP4_HUMAN UniProtKB/TrEMBL
  E9PQ08_HUMAN UniProtKB/TrEMBL
  H7BY18_HUMAN UniProtKB/TrEMBL
  P09603 ENTREZGENE
  Q13130 ENTREZGENE
  Q14086 ENTREZGENE
  Q14806 ENTREZGENE
  Q5VVF3 ENTREZGENE
  Q5VVF4 ENTREZGENE
  Q9UQR8 ENTREZGENE
UniProt Secondary A8K6J5 UniProtKB/Swiss-Prot
  Q13130 UniProtKB/Swiss-Prot
  Q14086 UniProtKB/Swiss-Prot
  Q14806 UniProtKB/Swiss-Prot
  Q5VVF3 UniProtKB/Swiss-Prot
  Q5VVF4 UniProtKB/Swiss-Prot
  Q9UQR8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 CSF1  colony stimulating factor 1    colony stimulating factor 1 (macrophage)  Symbol and/or name change 5135510 APPROVED