NPHS1 (NPHS1 adhesion molecule, nephrin) - Rat Genome Database

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Gene: NPHS1 (NPHS1 adhesion molecule, nephrin) Homo sapiens
Analyze
Symbol: NPHS1
Name: NPHS1 adhesion molecule, nephrin
RGD ID: 732787
Description: ENCODES an ncrna that exhibits alpha-actinin binding (ortholog); protein domain specific binding (ortholog); spectrin binding (ortholog); INVOLVED IN cell adhesion (ortholog); gene expression (ortholog); JNK cascade (ortholog); ASSOCIATED WITH chronic kidney disease; Congenital nephrotic syndrome; focal segmental glomerulosclerosis; FOUND IN basement membrane (ortholog); cell periphery (ortholog); cell projection (ortholog); INTERACTS WITH 1,1-dichloroethene (ortholog); 1,2-dichloroethane (ortholog); 1-naphthyl isothiocyanate (ortholog)
Type: ncrna (Ensembl: protein-coding)
RefSeq Status: MODEL
Previously known as: CNF; nephrin; nephrosis 1, congenital, Finnish type (nephrin); NPHN; NPHS1 nephrin; NPHS1, nephrin; renal glomerulus-specific cell adhesion receptor; truncated NPHS1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Squirrel
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
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
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. 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.
6. 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.
7. 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.
8. 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.
9. 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.
10. 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.
11. Nephrin and podocin dissociate at the onset of proteinuria in experimental membranous nephropathy. Nakatsue T, etal., Kidney Int. 2005 Jun;67(6):2239-53.
12. 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.
13. 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.
14. 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.
15. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
16. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
17. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
18. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
19. 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.
20. 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.
21. 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.
22. 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.
23. 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.
24. 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.
25. 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.
26. 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.
27. 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.

Genomics

Comparative Map Data
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
(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
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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_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
3 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NPHS1, 2-BP DEL, 121CT deletion Finnish congenital nephrotic syndrome [RCV000007269] Chr19:19q13.1 pathogenic
NPHS1, 2-BP INS, 1306AC insertion Finnish congenital nephrotic syndrome [RCV000007271] Chr19:19q13.1 pathogenic
NPHS1, 1-BP DEL, 1481C deletion Finnish congenital nephrotic syndrome [RCV000007273] Chr19:19q13.1 pathogenic
NPHS1, 1-BP DEL, 3250G deletion Finnish congenital nephrotic syndrome [RCV000007274] Chr19:19q13.1 pathogenic
NM_004646.3(NPHS1):c.3422C>T (p.Ser1141Phe) single nucleotide variant Malignant melanoma [RCV000063515] Chr19:35831112 [GRCh38]
Chr19:36322014 [GRCh37]
Chr19:41013854 [NCBI36]
Chr19:19q13.12
not provided
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:818
Count of miRNA genes:541
Interacting mature miRNAs:612
Transcripts:ENST00000353632, ENST00000378910, ENST00000585400, ENST00000592132
Prediction methods: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.

Markers in Region
NPHS1__6069  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371936,316,779 - 36,317,508UniSTSGRCh37
Build 361941,008,619 - 41,009,348RGDNCBI36
Celera1933,030,251 - 33,030,980RGD
HuRef1932,821,504 - 32,822,233UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 3 11 137 21 5
Low 200 21 125 15 139 15 189 4 827 40 447 85 168 4 1
Below cutoff 1724 1813 1035 322 1124 198 2835 1369 2644 141 698 1113 135 1 726 1858 3

Sequence


RefSeq Acc Id: XR_001753932
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381935,862,915 - 35,869,357 (-)NCBI
Sequence:
RefSeq Acc Id: XR_007089126
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01938,408,667 - 38,415,111 (-)NCBI
Protein Sequences
Protein Domains
Ig-like


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7908 AgrOrtholog
COSMIC NPHS1 COSMIC
Ensembl Genes ENSG00000161270 Ensembl
Gene3D-CATH 2.60.40.10 UniProtKB/TrEMBL
GTEx ENSG00000161270 GTEx
Human Proteome Map NPHS1 Human Proteome Map
InterPro Ig-like_dom UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/TrEMBL
NCBI Gene LOC107985317 ENTREZGENE
PROSITE IG_LIKE UniProtKB/TrEMBL
Superfamily-SCOP SSF48726 UniProtKB/TrEMBL
UniProt A0A125S6H5_HUMAN UniProtKB/TrEMBL
  A0A125S6H6_HUMAN UniProtKB/TrEMBL
  A0A125S6H7_HUMAN UniProtKB/TrEMBL
  A0A1B2JLU5_HUMAN UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 NPHS1  NPHS1 adhesion molecule, nephrin    NPHS1, nephrin  Symbol and/or name change 5135510 APPROVED
2016-07-19 NPHS1  NPHS1, nephrin    NPHS1 nephrin  Symbol and/or name change 5135510 APPROVED
2016-02-16 NPHS1  NPHS1 nephrin    nephrosis 1, congenital, Finnish type (nephrin)  Symbol and/or name change 5135510 APPROVED