Nphs1 (nephrosis 1, nephrin) - Rat Genome Database

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Gene: Nphs1 (nephrosis 1, nephrin) Mus musculus
Analyze
Symbol: Nphs1
Name: nephrosis 1, nephrin
RGD ID: 737511
MGI Page MGI
Description: Predicted to enable cell adhesion molecule binding activity; cytoskeletal protein binding activity; and protein domain specific binding activity. Involved in myoblast fusion; skeletal muscle tissue development; and slit diaphragm assembly. Acts upstream of or within several processes, including JNK cascade; cell adhesion; and positive regulation of actin filament polymerization. Located in cell projection; focal adhesion; and plasma membrane. Is active in cell periphery. Is expressed in central nervous system and metanephros. Used to study nephrotic syndrome. Human ortholog(s) of this gene implicated in nephrotic syndrome type 1. Orthologous to human NPHS1 (NPHS1 adhesion molecule, nephrin).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ne; nephrin; nephrin 1; NephrinB; nephrosis 1 homolog, nephrin; renal glomerulus-specific cell adhesion receptor
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Squirrel
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39730,157,259 - 30,188,048 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl730,157,740 - 30,186,648 (+)EnsemblGRCm39 Ensembl
GRCm38730,458,207 - 30,488,623 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl730,458,315 - 30,487,223 (+)EnsemblGRCm38mm10GRCm38
MGSCv37731,245,077 - 31,273,628 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36730,168,976 - 30,195,476 (+)NCBIMGSCv36mm8
MGSCv36722,737,759 - 22,764,662 (+)NCBIMGSCv36mm8
Celera725,051,854 - 25,074,685 (+)NCBICelera
Cytogenetic Map7B1NCBI
cM Map718.36NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (EXP)
1,2-dichloroethane  (EXP)
1-naphthyl isothiocyanate  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-[4-[(E)-2-(6,8-dichloro-2-phenyl-2H-chromen-3-yl)ethenyl]phenyl]-4,4,5,5-tetramethyl-1,3,2-dioxaborolane  (EXP)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (EXP,ISO)
3,7-dihydropurine-6-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid  (EXP)
5-hydroxymethylfurfural  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
all-trans-retinoic acid  (EXP,ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
angiotensin II  (EXP)
apocynin  (EXP)
arsane  (ISO)
arsenic atom  (ISO)
bisphenol A  (EXP,ISO)
cadmium dichloride  (ISO)
caffeine  (ISO)
calcitriol  (EXP)
carvedilol  (ISO)
celecoxib  (ISO)
cholesterol  (ISO)
cisplatin  (ISO)
clemizole  (ISO)
corticosterone  (ISO)
dapagliflozin  (ISO)
daunorubicin  (ISO)
decabromodiphenyl ether  (ISO)
dexamethasone  (EXP,ISO)
dibenziodolium  (EXP)
doxorubicin  (ISO)
ergosta-4,6,8(14),22-tetraen-3-one  (EXP)
ethanol  (ISO)
fasudil  (ISO)
filipin III  (EXP)
fluvastatin  (EXP,ISO)
folic acid  (EXP)
fructose  (ISO)
genistein  (EXP)
gentamycin  (ISO)
Heptachlor epoxide  (EXP)
homocysteine  (EXP)
lipopolysaccharide  (EXP)
lisinopril dihydrate  (ISO)
losartan  (EXP)
mercaptopurine  (ISO)
mercury dichloride  (ISO)
metformin  (ISO)
methapyrilene  (ISO)
methimazole  (ISO)
methyl beta-cyclodextrin  (EXP)
mifepristone  (ISO)
mono(2-ethylhexyl) phthalate  (EXP)
morin  (ISO)
mycophenolate mofetil  (ISO)
mycophenolic acid  (ISO)
Nandrolone decanoate  (ISO)
olmesartan  (EXP)
Pachymic acid  (EXP)
perindopril  (EXP)
phorbol 13-acetate 12-myristate  (EXP)
pioglitazone  (ISO)
prednisone  (ISO)
probucol  (ISO)
procyanidin B2  (ISO)
purine-6-thiol  (ISO)
resveratrol  (ISO)
retinoic acid  (IEP)
sodium arsenite  (ISO)
sodium chloride  (EXP)
sodium cholate  (ISO)
spironolactone  (EXP)
streptozocin  (EXP,ISO)
sulfadimethoxine  (ISO)
telmisartan  (ISO)
trichloroethene  (EXP)
trichostatin A  (ISO)
trimellitic anhydride  (EXP)
Triptolide  (EXP,ISO)
valsartan  (ISO)
Y-27632  (EXP)
zingerone  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome. Beltcheva O, etal., Hum Mutat 2001 May;17(5):368-73.
2. Knockout of toll-like receptor-2 attenuates both the proinflammatory state of diabetes and incipient diabetic nephropathy. Devaraj S, etal., Arterioscler Thromb Vasc Biol. 2011 Aug;31(8):1796-804. doi: 10.1161/ATVBAHA.111.228924. Epub 2011 May 26.
3. BDNF: mRNA expression in urine cells of patients with chronic kidney disease and its role in kidney function. Endlich N, etal., J Cell Mol Med. 2018 Nov;22(11):5265-5277. doi: 10.1111/jcmm.13762. Epub 2018 Aug 21.
4. Determinants of vascular permeability in the kidney glomerulus. Hamano Y, etal., J Biol Chem 2002 Aug 23;277(34):31154-62. Epub 2002 May 30.
5. Retinoic acid inhibits HIV-1-induced podocyte proliferation through the cAMP pathway. He JC, etal., J Am Soc Nephrol. 2007 Jan;18(1):93-102. doi: 10.1681/ASN.2006070727. Epub 2006 Dec 20.
6. Angiotensin II type 1 receptor blockade inhibits the development and progression of HIV-associated nephropathy in a mouse model. Hiramatsu N, etal., J Am Soc Nephrol. 2007 Feb;18(2):515-27. doi: 10.1681/ASN.2006030217. Epub 2007 Jan 17.
7. mTORC1 activation triggers the unfolded protein response in podocytes and leads to nephrotic syndrome. Ito N, etal., Lab Invest. 2011 Nov;91(11):1584-95. doi: 10.1038/labinvest.2011.135. Epub 2011 Aug 29.
8. Kruppel-like factor 15 (KLF15) is a key regulator of podocyte differentiation. Mallipattu SK, etal., J Biol Chem. 2012 Jun 1;287(23):19122-35. doi: 10.1074/jbc.M112.345983. Epub 2012 Apr 9.
9. Electronic Transfer of Homolog Data MGD and Homologene mouse data transfer
10. MGDs mouse GO annotations MGD data from the GO Consortium
11. MGD IEA MGD IEA
12. Renal toxicity mediated by glucose degradation products in a rat model of advanced renal failure. Müller-Krebs S, etal., Eur J Clin Invest. 2008 May;38(5):296-305. doi: 10.1111/j.1365-2362.2008.01945.x. Epub 2008 Mar 16.
13. Nephrin and podocin dissociate at the onset of proteinuria in experimental membranous nephropathy. Nakatsue T, etal., Kidney Int. 2005 Jun;67(6):2239-53.
14. Glomerular abundance of nephrin and podocin in experimental nephrotic syndrome: different effects of antiproteinuric therapies. Nakhoul F, etal., Am J Physiol Renal Physiol. 2005 Oct;289(4):F880-90. Epub 2005 Jun 7.
15. Messenger RNA expression of B7-1 and NPHS1 in urinary sediment could be useful to differentiate between minimal-change disease and focal segmental glomerulosclerosis in adult patients. Navarro-Muñoz M, etal., Nephrol Dial Transplant. 2011 Dec;26(12):3914-23. doi: 10.1093/ndt/gfr128. Epub 2011 Mar 17.
16. Chronic hyperaldosteronism in cryptochrome-null mice induces high-salt- and blood pressure-independent kidney damage in mice. Nugrahaningsih DA, etal., Hypertens Res. 2014 Mar;37(3):202-9. doi: 10.1038/hr.2013.143. Epub 2013 Oct 10.
17. Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73.
18. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
19. Primary structure of mouse and rat nephrin cDNA and structure and expression of the mouse gene. Putaala H, etal., J Am Soc Nephrol 2000 Jun;11(6):991-1001.
20. Mouse MP Annotation Import Pipeline RGD automated import pipeline
21. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
22. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
23. Therapeutic potential of human induced pluripotent stem cells and renal progenitor cells in experimental chronic kidney disease. Ribeiro PC, etal., Stem Cell Res Ther. 2020 Dec 9;11(1):530. doi: 10.1186/s13287-020-02060-4.
24. Fluvastatin prevents podocyte injury in a murine model of HIV-associated nephropathy. Sakurai N, etal., Nephrol Dial Transplant. 2009 Aug;24(8):2378-83. doi: 10.1093/ndt/gfp012. Epub 2009 Feb 2.
25. Urine podocyte mRNAs mark progression of renal disease. Sato Y, etal., J Am Soc Nephrol. 2009 May;20(5):1041-52. doi: 10.1681/ASN.2007121328. Epub 2009 Apr 23.
26. Analysis of the genomic architecture of a complex trait locus in hypertensive rat models links Tmem63c to kidney damage. Schulz A, etal., Elife. 2019 Mar 22;8. pii: 42068. doi: 10.7554/eLife.42068.
27. Involvement of renal corpuscle microRNA expression on epithelial-to-mesenchymal transition in maternal low protein diet in adult programmed rats. Sene Lde B, etal., PLoS One. 2013 Aug 19;8(8):e71310. doi: 10.1371/journal.pone.0071310. eCollection 2013.
28. Tim-3 aggravates podocyte injury in diabetic nephropathy by promoting macrophage activation via the NF-κB/TNF-α pathway. Yang H, etal., Mol Metab. 2019 May;23:24-36. doi: 10.1016/j.molmet.2019.02.007. Epub 2019 Feb 26.
29. Macrophages directly mediate diabetic renal injury. You H, etal., Am J Physiol Renal Physiol. 2013 Dec 15;305(12):F1719-27. doi: 10.1152/ajprenal.00141.2013. Epub 2013 Oct 30.
30. Effects of mycophenolate mofetil, valsartan and their combined therapy on preventing podocyte loss in early stage of diabetic nephropathy in rats. Zhang Y, etal., Chin Med J (Engl). 2007 Jun 5;120(11):988-95.
31. Novel retinoic acid receptor alpha agonists for treatment of kidney disease. Zhong Y, etal., PLoS One. 2011;6(11):e27945. doi: 10.1371/journal.pone.0027945. Epub 2011 Nov 18.
Additional References at PubMed
PMID:10349636   PMID:10504499   PMID:11042159   PMID:11076861   PMID:11095653   PMID:11136707   PMID:11217851   PMID:11435469   PMID:11562357   PMID:11733379   PMID:11733557   PMID:12039988  
PMID:12217315   PMID:12424224   PMID:12520002   PMID:12782671   PMID:12865409   PMID:12904583   PMID:14610273   PMID:14701729   PMID:15177566   PMID:15465483   PMID:15545998   PMID:15579507  
PMID:15634346   PMID:15924139   PMID:16141072   PMID:16141073   PMID:16164632   PMID:16498405   PMID:16501493   PMID:16543952   PMID:16820792   PMID:16874800   PMID:16937370   PMID:16955103  
PMID:17244893   PMID:17255128   PMID:17537921   PMID:17923684   PMID:18046313   PMID:18082680   PMID:18480178   PMID:18562307   PMID:18752272   PMID:18787044   PMID:18799693   PMID:19129671  
PMID:19142224   PMID:19179337   PMID:19443634   PMID:19443644   PMID:19470472   PMID:19474283   PMID:19497968   PMID:19521566   PMID:19587356   PMID:19887377   PMID:19948823   PMID:20237236  
PMID:20419132   PMID:20457601   PMID:20534871   PMID:20576809   PMID:20633534   PMID:20843830   PMID:21187647   PMID:21241806   PMID:21267068   PMID:21270765   PMID:21289056   PMID:21306299  
PMID:21321125   PMID:21342325   PMID:21402589   PMID:21406566   PMID:21478284   PMID:21521738   PMID:21630272   PMID:21677750   PMID:21803771   PMID:21873635   PMID:21931791   PMID:21937443  
PMID:22052054   PMID:22203040   PMID:22322304   PMID:22586490   PMID:22809625   PMID:22840396   PMID:22880115   PMID:23362348   PMID:23555292   PMID:23559562   PMID:23824190   PMID:23954273  
PMID:24637293   PMID:24692514   PMID:24700503   PMID:24940800   PMID:25145929   PMID:25404734   PMID:25417164   PMID:25448064   PMID:25587123   PMID:25730372   PMID:25804736   PMID:25993318  
PMID:26076477   PMID:26245758   PMID:26380915   PMID:26385183   PMID:26400569   PMID:26792178   PMID:26859289   PMID:26868296   PMID:27084889   PMID:27180624   PMID:27430022   PMID:27575556  
PMID:27591083   PMID:27597235   PMID:27650733   PMID:27707879   PMID:27882344   PMID:28158917   PMID:28222099   PMID:28228401   PMID:28527294   PMID:28536193   PMID:28835419   PMID:29114040  
PMID:29162887   PMID:29924795   PMID:30367465   PMID:30379099   PMID:30389854   PMID:30454893   PMID:30518531   PMID:30718617   PMID:31062503   PMID:31882119   PMID:32324134   PMID:32325033  
PMID:33197428   PMID:33514561   PMID:33591954   PMID:34391780   PMID:35037469   PMID:35105870   PMID:35216141   PMID:35341793   PMID:35499085   PMID:36445780   PMID:36522157   PMID:36527791  


Genomics

Comparative Map Data
Nphs1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39730,157,259 - 30,188,048 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl730,157,740 - 30,186,648 (+)EnsemblGRCm39 Ensembl
GRCm38730,458,207 - 30,488,623 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl730,458,315 - 30,487,223 (+)EnsemblGRCm38mm10GRCm38
MGSCv37731,245,077 - 31,273,628 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36730,168,976 - 30,195,476 (+)NCBIMGSCv36mm8
MGSCv36722,737,759 - 22,764,662 (+)NCBIMGSCv36mm8
Celera725,051,854 - 25,074,685 (+)NCBICelera
Cytogenetic Map7B1NCBI
cM Map718.36NCBI
NPHS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381935,862,915 - 35,869,357 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1935,825,964 - 35,869,287 (-)EnsemblGRCh38hg38GRCh38
GRCh371936,316,274 - 36,342,895 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361941,008,697 - 41,034,579 (-)NCBINCBI36Build 36hg18NCBI36
Build 341941,008,696 - 41,034,579NCBI
Celera1933,029,746 - 33,057,068 (-)NCBICelera
Cytogenetic Map19q13.12NCBI
HuRef1932,820,999 - 32,848,201 (-)NCBIHuRef
CHM1_11936,355,097 - 36,361,471 (-)NCBICHM1_1
T2T-CHM13v2.01938,408,667 - 38,415,111 (-)NCBIT2T-CHM13v2.0
Nphs1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8194,848,261 - 94,876,522 (+)NCBIGRCr8
mRatBN7.2185,720,812 - 85,749,079 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl185,720,812 - 85,749,078 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx191,137,685 - 91,165,886 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0199,603,840 - 99,632,046 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0192,895,953 - 92,924,165 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0188,922,346 - 88,950,560 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl188,922,433 - 88,950,559 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0190,077,799 - 90,106,425 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4185,414,492 - 85,444,233 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1185,516,160 - 85,522,343 (+)NCBI
Celera180,092,938 - 80,121,035 (+)NCBICelera
Cytogenetic Map1q21NCBI
Nphs1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554682,714,419 - 2,734,830 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554682,715,728 - 2,734,174 (+)NCBIChiLan1.0ChiLan1.0
NPHS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22041,823,063 - 41,855,380 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11943,808,462 - 43,839,190 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01932,742,802 - 32,770,600 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11941,492,126 - 41,518,587 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1941,492,444 - 41,518,471 (-)Ensemblpanpan1.1panPan2
Nphs1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934911,131,646 - 11,149,391 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936570494,971 - 513,874 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936570495,421 - 514,179 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NPHS1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1630,736,869 - 30,763,054 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl630,736,966 - 30,762,929 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660738,529,236 - 8,554,575 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nphs1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462479410,116,777 - 10,135,963 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462479410,117,464 - 10,138,511 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Nphs1
1343 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1020
Count of miRNA genes:543
Interacting mature miRNAs:638
Transcripts:ENSMUST00000006825, ENSMUST00000123880, ENSMUST00000126297, ENSMUST00000131004, ENSMUST00000149086
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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 (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1301572Sluc30_msusceptibility to lung cancer 30 (mouse)Not determined7243169636431844Mouse
1300722Sle3_msystemic lupus erythmatosus susceptibility 3 (mouse)Not determined7351172887142720Mouse
38501068Tip1_mtuberculosis immunophenotype 1, spleen CFU (mouse)7360299972549748Mouse
25314307Mlh1fc2_mMLH1 foci count 2 (mouse)76502999133501729Mouse
12792978Fbmd3_mfemoral bone mineral density 3, females only (mouse)77050288142367832Mouse
1357699Nhdlq6_mnon-HDL QTL 6 (mouse)Not determined7998886743988984Mouse
1558893Spir1_mStreptococcus pneumoniae infection resistance 1 (mouse)Not determined71030579844305936Mouse
10449139Eosn1_meosinophil differential 1 (mouse)71248087746480877Mouse
10449158Eosn3_meosinophil differential 3 (mouse)71248087746480877Mouse
4141566Femwf8_mfemur work to failure 8 (mouse)Not determined1303248547032621Mouse
11522751Cocia17_mcocaine-induced activity, QTL 17 (mouse)71313520447135204Mouse
25314314Sccor1_msynaptonemal complex length to mean MLH1 count ratio 1 (mouse)71333392547349748Mouse
1559016Drsi_mDCC-related Spp1 induction (mouse)Not determined71663729349159331Mouse
1301041Prnr2_mprion resistance 2 (mouse)Not determined71872879439674033Mouse
10412199Sst2_msusceptibility to tuberculosis 2 (mouse)Not determined718728794119485380Mouse
1301158Eae4_msusceptibility to experimental allergic encephalomyelitis 4 (mouse)Not determined719147398141919804Mouse
1301622Eae12_msusceptibility to experimental allergic encephalomyelitis 12 (mouse)Not determined71928001553280104Mouse
1301052Bhr6_mbronchial hyperresponsiveness 6 (mouse)Not determined71984225053842367Mouse
12904742Litsq2_mlitter size QTL 2 (mouse)72267388756674033Mouse
1301709Bdt4_mbone density traits 4 (mouse)Not determined72288857256888716Mouse
11354952Pdcc1_mplasmacytoid dentritic cell compartment 1 (mouse)72306653157066531Mouse
1301969Lbw5_mlupus NZB x NZW 5 (mouse)Not determined72684761560851775Mouse
7394747asp3_maudiogenic seizure prone 3 (mouse)Not determined72730579836842367Mouse
12790989Tgl6_mtriglyceride 6 (mouse)72754054961540549Mouse
4141805Sle19_msystematic lupus erythematosus susceptibility 19 (mouse)Not determined3003248581135653Mouse

Markers in Region
PMC164293P1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38730,463,611 - 30,463,807UniSTSGRCm38
MGSCv37731,248,630 - 31,248,826UniSTSGRCm37
Celera725,055,367 - 25,055,563UniSTS
Cytogenetic Map7A3UniSTS
PMC164293P2  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38730,463,635 - 30,463,807UniSTSGRCm38
MGSCv37731,248,654 - 31,248,826UniSTSGRCm37
Celera725,055,391 - 25,055,563UniSTS
Cytogenetic Map7A3UniSTS
Nphs1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7A3UniSTS
cM Map7 UniSTS
PMC343810P3  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38730,465,842 - 30,466,064UniSTSGRCm38
MGSCv37731,250,861 - 31,251,083UniSTSGRCm37
Celera725,057,580 - 25,057,802UniSTS
Cytogenetic Map7A3UniSTS


Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_019459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011250647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_036153259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_036153260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB513652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC149067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC167970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF168466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF172256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF190638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF191090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF296764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK080512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK141081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY183460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH466593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENSMUST00000006825   ⟹   ENSMUSP00000006825
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl730,159,150 - 30,186,648 (+)Ensembl
GRCm38.p6 Ensembl730,459,725 - 30,487,223 (+)Ensembl
RefSeq Acc Id: ENSMUST00000123880
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl730,173,933 - 30,181,962 (+)Ensembl
GRCm38.p6 Ensembl730,474,508 - 30,482,537 (+)Ensembl
RefSeq Acc Id: ENSMUST00000126297   ⟹   ENSMUSP00000116500
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl730,157,740 - 30,186,141 (+)Ensembl
GRCm38.p6 Ensembl730,458,315 - 30,486,716 (+)Ensembl
RefSeq Acc Id: ENSMUST00000131004
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl730,184,340 - 30,186,415 (+)Ensembl
GRCm38.p6 Ensembl730,484,915 - 30,486,990 (+)Ensembl
RefSeq Acc Id: ENSMUST00000149086   ⟹   ENSMUSP00000119601
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl730,177,290 - 30,186,306 (+)Ensembl
GRCm38.p6 Ensembl730,477,865 - 30,486,881 (+)Ensembl
RefSeq Acc Id: NM_019459   ⟹   NP_062332
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39730,159,483 - 30,188,034 (+)NCBI
GRCm38730,460,058 - 30,488,609 (+)NCBI
MGSCv37731,245,077 - 31,273,628 (+)RGD
Celera725,051,854 - 25,074,686 (+)NCBI
cM Map7 ENTREZGENE
Sequence:
RefSeq Acc Id: XM_011250647   ⟹   XP_011248949
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39730,157,616 - 30,188,048 (+)NCBI
GRCm38730,458,207 - 30,488,623 (+)NCBI
Sequence:
RefSeq Acc Id: XM_036153259   ⟹   XP_036009152
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39730,159,464 - 30,188,048 (+)NCBI
Sequence:
RefSeq Acc Id: XM_036153260   ⟹   XP_036009153
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39730,157,259 - 30,188,048 (+)NCBI
Sequence:
RefSeq Acc Id: NP_062332   ⟸   NM_019459
- Peptide Label: precursor
- UniProtKB: Q9ET59 (UniProtKB/Swiss-Prot),   Q9ESC6 (UniProtKB/Swiss-Prot),   Q925S5 (UniProtKB/Swiss-Prot),   Q811S5 (UniProtKB/Swiss-Prot),   D2KXA7 (UniProtKB/Swiss-Prot),   Q9JIX1 (UniProtKB/Swiss-Prot),   Q9QZS7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011248949   ⟸   XM_011250647
- Peptide Label: isoform X2
- UniProtKB: Q9QZS7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSMUSP00000006825   ⟸   ENSMUST00000006825
RefSeq Acc Id: ENSMUSP00000116500   ⟸   ENSMUST00000126297
RefSeq Acc Id: ENSMUSP00000119601   ⟸   ENSMUST00000149086
RefSeq Acc Id: XP_036009153   ⟸   XM_036153260
- Peptide Label: isoform X2
RefSeq Acc Id: XP_036009152   ⟸   XM_036153259
- Peptide Label: isoform X1
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9QZS7-F1-model_v2 AlphaFold Q9QZS7 1-1256 view protein structure

Promoters
RGD ID:6892620
Promoter ID:EPDNEW_M9760
Type:initiation region
Name:Nphs1_1
Description:Mus musculus nephrosis 1, nephrin , mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38730,458,288 - 30,458,348EPDNEW
RGD ID:6841650
Promoter ID:MM_KWN:49820
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:ES_Cell
Transcripts:OTTMUST00000077115
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv36731,270,071 - 31,270,571 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:1859637 AgrOrtholog
Ensembl Genes ENSMUSG00000006649 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENSMUST00000006825 ENTREZGENE
  ENSMUST00000006825.9 UniProtKB/Swiss-Prot
  ENSMUST00000126297 ENTREZGENE
  ENSMUST00000126297.9 UniProtKB/Swiss-Prot
  ENSMUST00000149086.2 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot
InterPro CD80_C2-set UniProtKB/Swiss-Prot
  FN3_dom UniProtKB/Swiss-Prot
  FN3_sf UniProtKB/Swiss-Prot
  Ig-like_dom UniProtKB/Swiss-Prot
  Ig-like_dom_sf UniProtKB/Swiss-Prot
  Ig-like_fold UniProtKB/Swiss-Prot
  Ig_I-set UniProtKB/Swiss-Prot
  Ig_sub UniProtKB/Swiss-Prot
  Ig_sub2 UniProtKB/Swiss-Prot
KEGG Report mmu:54631 UniProtKB/Swiss-Prot
MGD MGI:1859637 ENTREZGENE
NCBI Gene 54631 ENTREZGENE
PANTHER LIMBIC SYSTEM-ASSOCIATED MEMBRANE PROTEIN UniProtKB/Swiss-Prot
  NEPHRIN UniProtKB/Swiss-Prot
Pfam C2-set_2 UniProtKB/Swiss-Prot
  fn3 UniProtKB/Swiss-Prot
  I-set UniProtKB/Swiss-Prot
  Ig_3 UniProtKB/Swiss-Prot
PhenoGen Nphs1 PhenoGen
PROSITE FN3 UniProtKB/Swiss-Prot
  IG_LIKE UniProtKB/Swiss-Prot
SMART FN3 UniProtKB/Swiss-Prot
  IGc2 UniProtKB/Swiss-Prot
  SM00409 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot
  SSF49265 UniProtKB/Swiss-Prot
UniProt D2KXA7 ENTREZGENE
  F6RCI4_MOUSE UniProtKB/TrEMBL
  NPHN_MOUSE UniProtKB/Swiss-Prot
  Q811S5 ENTREZGENE
  Q925S5 ENTREZGENE
  Q9ESC6 ENTREZGENE
  Q9ET59 ENTREZGENE
  Q9JIX1 ENTREZGENE
  Q9QZS7 ENTREZGENE
UniProt Secondary D2KXA7 UniProtKB/Swiss-Prot
  Q811S5 UniProtKB/Swiss-Prot
  Q925S5 UniProtKB/Swiss-Prot
  Q9ESC6 UniProtKB/Swiss-Prot
  Q9ET59 UniProtKB/Swiss-Prot
  Q9JIX1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-07-02 Nphs1  nephrosis 1, nephrin    nephrosis 1 homolog, nephrin (human)  Symbol and/or name change 5135510 APPROVED