Advanced Search (OLGA)

Gene: Nphs1 (NPHS1 adhesion molecule, nephrin) Rattus norvegicus

Analyze

Symbol:

Nphs1

Name:

NPHS1 adhesion molecule, nephrin

RGD ID:

620460

Description:

Enables alpha-actinin binding activity; protein domain specific binding activity; and spectrin binding activity. Predicted to be involved in several processes, including myoblast fusion; skeletal muscle tissue development; and slit diaphragm assembly. Predicted to act upstream of or within several processes, including JNK cascade; cell adhesion; and positive regulation of actin filament polymerization. Located in basement membrane; plasma membrane; and slit diaphragm. Part of protein-containing complex. Biomarker of end stage renal disease; kidney failure; membranous glomerulonephritis; and nephrotic syndrome. Human ortholog(s) of this gene implicated in nephrotic syndrome type 1. Orthologous to human NPHS1 (NPHS1 adhesion molecule, nephrin); INTERACTS WITH 5-hydroxymethylfurfural; mycophenolate mofetil; streptozocin.

Type:

protein-coding

RefSeq Status:

PROVISIONAL

Previously known as:

nephrin; nephrosis 1 homolog (human); nephrosis 1 homolog, nephrin; nephrosis 1 homolog, nephrin (human); nephrosis 1, congenital, Finnish type; nephrosis 1, congenital, Finnish type (nephrin); NPHS1 nephrin; renal glomerulus-specific cell adhesion receptor

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Homo sapiens (human):	NPHS1 (NPHS1 adhesion molecule, nephrin)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Mus musculus (house mouse):	Nphs1 (nephrosis 1, nephrin)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Chinchilla lanigera (long-tailed chinchilla):	Nphs1 (NPHS1 adhesion molecule, nephrin)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Pan paniscus (bonobo/pygmy chimpanzee):	NPHS1 (NPHS1 adhesion molecule, nephrin)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Nphs1 (NPHS1 adhesion molecule, nephrin)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Chlorocebus sabaeus (green monkey):	NPHS1 (NPHS1 adhesion molecule, nephrin)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Heterocephalus glaber (naked mole-rat):	Nphs1 (NPHS1 adhesion molecule, nephrin)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Other homologs ²
Homo sapiens (human):	NPHS1 (NPHS1 adhesion molecule, nephrin)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OrthoDB, Panther, Treefam
Alliance orthologs ³
Homo sapiens (human):	NPHS1 (NPHS1 adhesion molecule, nephrin)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Homo sapiens (human):	NPHS1 (NPHS1 adhesion molecule, nephrin)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Nphs1 (nephrosis 1, nephrin)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	nphs1 (NPHS1 adhesion molecule, nephrin)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	syg-2	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB)
Caenorhabditis elegans (roundworm):	syg-2	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	sns	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	nphs1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	nphs1	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB)
Drosophila melanogaster (fruit fly):	hbs	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)

Latest Assembly:

GRCr8 - GRCr8 Assembly

Position:

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	94,848,261 - 94,876,522 (+)	NCBI	GRCr8	GRCr8		GRCr8
GRCr8 Ensembl	1	94,848,261 - 94,876,521 (+)	Ensembl				GRCr8
mRatBN7.2	1	85,720,812 - 85,749,079 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	85,720,812 - 85,749,078 (+)	Ensembl				mRatBN7.2
UTH_Rnor_SHR_Utx	1	91,137,685 - 91,165,886 (+)	NCBI	UTH_Rnor_SHR_Utx	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	99,603,840 - 99,632,046 (+)	NCBI	UTH_Rnor_SHRSP_BbbUtx_1.0	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	92,895,953 - 92,924,165 (+)	NCBI	UTH_Rnor_WKY_Bbb_1.0	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	88,922,346 - 88,950,560 (+)	NCBI	Rnor_6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	88,922,433 - 88,950,559 (+)	Ensembl			rn6	Rnor6.0
Rnor_5.0	1	90,077,799 - 90,106,425 (+)	NCBI	Rnor_5.0	Rnor_5.0	rn5
RGSC_v3.4	1	85,414,492 - 85,444,233 (+)	NCBI	RGSC_v3.4	RGSC_v3.4	rn4
Celera	1	80,092,938 - 80,121,035 (+)	NCBI		Celera
RGSC_v3.1	1	85,516,160 - 85,522,343 (+)	NCBI
Cytogenetic Map	1	q21	NCBI

JBrowse:

View Region in Genome Browser (JBrowse)

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

AIDS-Associated Nephropathy (ISO)

chronic kidney disease (ISO)

Diabetic Nephropathies (IEP,ISO)

end stage renal disease (IEP)

Fetal Nutrition Disorders (IEP)

focal segmental glomerulosclerosis (ISO)

glomerulosclerosis (ISO)

kidney failure (IEP)

membranous glomerulonephritis (IEP)

nephrotic syndrome (IEP,ISO,ISS)

nephrotic syndrome type 1 (ISO)

proteinuria (ISO)

Puromycin Aminonucleoside Nephrosis (IEP)

renal fibrosis (ISO)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,1-dichloroethene (ISO)

1,2-dichloroethane (ISO)

2,3',4,4',5-Pentachlorobiphenyl (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2,4-dibromophenyl 2,4,5-tribromophenyl ether (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)

2-hydroxypropanoic acid (ISO)

3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine (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 (EXP)

aldehydo-D-glucose (ISO)

all-trans-retinoic acid (ISO)

AM6545 (ISO)

angiotensin II (ISO)

apocynin (ISO)

bis(2-ethylhexyl) phthalate (ISO)

bisphenol A (ISO)

calcitriol (ISO)

D-glucose (ISO)

dexamethasone (ISO)

dibenziodolium (ISO)

dichloroacetic acid (ISO)

ergosta-4,6,8(14),22-tetraen-3-one (ISO)

filipin III (ISO)

fluvastatin (ISO)

folic acid (ISO)

genistein (ISO)

glucose (ISO)

Heptachlor epoxide (ISO)

homocysteine (ISO)

lipopolysaccharide (ISO)

losartan (ISO)

methyl beta-cyclodextrin (ISO)

mono(2-ethylhexyl) phthalate (ISO)

mycophenolate mofetil (EXP)

olmesartan (ISO)

oxamic acid (ISO)

Pachymic acid (ISO)

perindopril (ISO)

phorbol 13-acetate 12-myristate (ISO)

rac-lactic acid (ISO)

retinoic acid (ISO)

rotenone (ISO)

sodium chloride (ISO)

sodium lactate (ISO)

spironolactone (ISO)

streptozocin (EXP,ISO)

titanium dioxide (ISO)

trichloroethene (ISO)

trimellitic anhydride (ISO)

Triptolide (ISO)

valsartan (EXP)

XAV939 (ISO)

Y-27632 (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cell adhesion (IEA,ISO)

cell-cell adhesion (IBA)

gene expression (ISO)

glomerular filtration (IC)

JNK cascade (ISO)

MAPK cascade (ISO)

muscle organ development (IEA)

myoblast fusion (ISO)

positive regulation of actin filament polymerization (ISO)

skeletal muscle tissue development (ISO)

slit diaphragm assembly (ISO,ISS)

Cellular Component

basement membrane (IDA)

cell periphery (ISO)

cell projection (ISO)

cell-cell junction (IBA)

focal adhesion (ISO)

plasma membrane (IBA,IDA,IEA,ISO,TAS)

protein-containing complex (IDA)

slit diaphragm (IDA)

Molecular Function

alpha-actinin binding (IPI)

cell adhesion molecule binding (IBA)

protein binding (IPI,ISO)

protein domain specific binding (IPI)

spectrin binding (IPI)

References

References - curated

#	Reference Title	Reference Citation
1.	Cloning and expression of the rat nephrin homolog.	Ahola H, etal., Am J Pathol 1999 Sep;155(3):907-13.
2.	Planar cell polarity pathway regulates actin rearrangement, cell shape, motility, and nephrin distribution in podocytes.	Babayeva S, etal., Am J Physiol Renal Physiol. 2011 Feb;300(2):F549-60. doi: 10.1152/ajprenal.00566.2009. Epub 2010 Jun 9.
3.	Nephrin and Neph1 co-localize at the podocyte foot process intercellular junction and form cis hetero-oligomers.	Barletta GM, etal., J Biol Chem 2003 May 23;278(21):19266-71. Epub 2003 Mar 19.
4.	Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.	Beltcheva O, etal., Hum Mutat 2001 May;17(5):368-73.
5.	Nephrin expression in the post-natal developing kidney in normotensive and hypertensive rats.	Bonnet F, etal., Clin Exp Hypertens 2002 Jul;24(5):371-81.
6.	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.
7.	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.
8.	Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium.	Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
9.	Rat ISS GO annotations from GOA human gene data--August 2006	GOA data from the GO Consortium
10.	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.
11.	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.
12.	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.
13.	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.
14.	SIRPalpha interacts with nephrin at the podocyte slit diaphragm.	Kajiho Y, etal., FEBS J. 2012 Sep;279(17):3010-21. doi: 10.1111/j.1742-4658.2012.08682.x. Epub 2012 Jul 23.
15.	Cloning of rat nephrin: expression in developing glomeruli and in proteinuric states.	Kawachi H, etal., Kidney Int 2000 May;57(5):1949-61.
16.	Molecular structure and function of the slit diaphragm: expression of nephrin in proteinuric states and in developing glomeruli.	Kawachi H, etal., Nephrol Dial Transplant 2002;17 Suppl 9:20-2.
17.	Expression of the slit-diaphragm protein, nephrin, in experimental diabetic nephropathy: differing effects of anti-proteinuric therapies.	Kelly DJ, etal., Nephrol Dial Transplant 2002 Jul;17(7):1327-32.
18.	Nephrin forms a complex with adherens junction proteins and CASK in podocytes and in Madin-Darby canine kidney cells expressing nephrin.	Lehtonen S, etal., Am J Pathol. 2004 Sep;165(3):923-36.
19.	Cell junction-associated proteins IQGAP1, MAGI-2, CASK, spectrins, and alpha-actinin are components of the nephrin multiprotein complex.	Lehtonen S, etal., Proc Natl Acad Sci U S A. 2005 Jul 12;102(28):9814-9. Epub 2005 Jul 1.
20.	Neph1 and nephrin interaction in the slit diaphragm is an important determinant of glomerular permeability.	Liu G, etal., J Clin Invest 2003 Jul;112(2):209-21.
21.	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.
22.	Rat ISS GO annotations from MGI mouse gene data--August 2006	MGD data from the GO Consortium
23.	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.
24.	Nephrin and podocin dissociate at the onset of proteinuria in experimental membranous nephropathy.	Nakatsue T, etal., Kidney Int. 2005 Jun;67(6):2239-53.
25.	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.
26.	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.
27.	Electronic Transfer of LocusLink and RefSeq Data	NCBI rat LocusLink and RefSeq merged data July 26, 2002
28.	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.
29.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
30.	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.
31.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
32.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
33.	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.
34.	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.
35.	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.
36.	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.
37.	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.
38.	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.
39.	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.
40.	Podocyte slit-diaphragm protein nephrin is linked to the actin cytoskeleton.	Yuan H, etal., Am J Physiol Renal Physiol 2002 Apr;282(4):F585-91.
41.	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.
42.	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:11136707	PMID:11562357	PMID:12544453	PMID:14633129	PMID:15385636	PMID:15465010	PMID:15545998	PMID:15579503	PMID:15924139	PMID:15979540	PMID:16934223	PMID:17429054
PMID:17457371	PMID:17464107	PMID:17545045	PMID:17599973	PMID:17667985	PMID:17923684	PMID:18033240	PMID:18256598	PMID:18258597	PMID:19042927	PMID:19052472	PMID:19056867
PMID:19179337	PMID:19443634	PMID:19470472	PMID:19948823	PMID:20045917	PMID:20629321	PMID:21306299	PMID:21402783	PMID:21565142	PMID:21858180	PMID:22094487	PMID:22809625
PMID:23376485	PMID:25025298	PMID:25298195	PMID:25404734	PMID:26539476	PMID:27248136	PMID:27995418	PMID:29162887

Genomics

Comparative Map Data

Nphs1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	94,848,261 - 94,876,522 (+)	NCBI	GRCr8	GRCr8		GRCr8
GRCr8 Ensembl	1	94,848,261 - 94,876,521 (+)	Ensembl				GRCr8
mRatBN7.2	1	85,720,812 - 85,749,079 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	85,720,812 - 85,749,078 (+)	Ensembl				mRatBN7.2
UTH_Rnor_SHR_Utx	1	91,137,685 - 91,165,886 (+)	NCBI	UTH_Rnor_SHR_Utx	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	99,603,840 - 99,632,046 (+)	NCBI	UTH_Rnor_SHRSP_BbbUtx_1.0	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	92,895,953 - 92,924,165 (+)	NCBI	UTH_Rnor_WKY_Bbb_1.0	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	88,922,346 - 88,950,560 (+)	NCBI	Rnor_6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	88,922,433 - 88,950,559 (+)	Ensembl			rn6	Rnor6.0
Rnor_5.0	1	90,077,799 - 90,106,425 (+)	NCBI	Rnor_5.0	Rnor_5.0	rn5
RGSC_v3.4	1	85,414,492 - 85,444,233 (+)	NCBI	RGSC_v3.4	RGSC_v3.4	rn4
Celera	1	80,092,938 - 80,121,035 (+)	NCBI		Celera
RGSC_v3.1	1	85,516,160 - 85,522,343 (+)	NCBI
Cytogenetic Map	1	q21	NCBI

NPHS1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	35,862,915 - 35,869,357 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	35,825,964 - 35,869,287 (-)	Ensembl			hg38	GRCh38
GRCh37	19	36,316,274 - 36,342,895 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	41,008,697 - 41,034,579 (-)	NCBI	Build 36	Build 36	hg18	NCBI36
Build 34	19	41,008,696 - 41,034,579	NCBI
Celera	19	33,029,746 - 33,057,068 (-)	NCBI		Celera
Cytogenetic Map	19	q13.12	NCBI
HuRef	19	32,820,999 - 32,848,201 (-)	NCBI		HuRef
CHM1_1	19	36,355,097 - 36,361,471 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	19	38,408,667 - 38,415,111 (-)	NCBI		T2T-CHM13v2.0

Nphs1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	30,157,259 - 30,188,048 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	7	30,157,740 - 30,186,648 (+)	Ensembl		GRCm39 Ensembl		GRCm39
GRCm38	7	30,458,207 - 30,488,623 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	30,458,315 - 30,487,223 (+)	Ensembl			mm10	GRCm38
MGSCv37	7	31,245,077 - 31,273,628 (+)	NCBI	MGSCv37	MGSCv37	mm9	NCBIm37
MGSCv36	7	30,168,976 - 30,195,476 (+)	NCBI		MGSCv36	mm8
MGSCv36	7	22,737,759 - 22,764,662 (+)	NCBI		MGSCv36	mm8
Celera	7	25,051,854 - 25,074,685 (+)	NCBI		Celera
Cytogenetic Map	7	B1	NCBI
cM Map	7	18.36	NCBI

Nphs1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955468	2,714,419 - 2,734,830 (+)	Ensembl
ChiLan1.0	NW_004955468	2,715,728 - 2,734,174 (+)	NCBI	ChiLan1.0	ChiLan1.0

NPHS1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	20	41,823,063 - 41,855,380 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	19	43,808,462 - 43,839,190 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	19	32,742,802 - 32,770,600 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	19	41,492,126 - 41,518,587 (-)	NCBI	PanPan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	19	41,492,444 - 41,518,471 (-)	Ensembl			panPan2	panpan1.1

Nphs1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024409349	11,131,646 - 11,149,391 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936570	494,971 - 513,874 (+)	Ensembl		SpeTri2.0 Ensembl
SpeTri2.0	NW_004936570	495,421 - 514,179 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

NPHS1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	6	30,736,869 - 30,763,054 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	6	30,736,966 - 30,762,929 (-)	Ensembl		ChlSab1.1 Ensembl	chlSab2	Vervet-AGM
Vero_WHO_p1.0	NW_023666073	8,529,236 - 8,554,575 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Nphs1
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624794	10,116,777 - 10,135,963 (-)	Ensembl		HetGla_female_1.0 Ensembl	hetGla2	HetGla_female_1.0 Ensembl
HetGla 1.0	NW_004624794	10,117,464 - 10,138,511 (-)	NCBI	HetGla 1.0	HetGla 1.0	hetGla2

Variants

Variants in Nphs1
76 total Variants

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	503
Count of miRNA genes:	198
Interacting mature miRNAs:	242
Transcripts:	ENSRNOT00000028358, ENSRNOT00000045212
Prediction methods:	Microtar, Miranda, 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 (GRCr8)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1578649	Bmd8	Bone mineral density QTL 8	4.9		femur mineral mass (VT:0010011)	trabecular volumetric bone mineral density (CMO:0001729)	1	51940904	101229020	Rat
1582234	Gluco18	Glucose level QTL 18	3.4	0.0003	blood glucose amount (VT:0000188)	blood glucose level (CMO:0000046)	1	87889942	132889942	Rat
634314	Niddm44	Non-insulin dependent diabetes mellitus QTL 44			blood glucose amount (VT:0000188)	blood glucose level (CMO:0000046)	1	51941022	208479811	Rat
1358359	Sradr1	Stress Responsive Adrenal Weight QTL 1	4.74		adrenal gland mass (VT:0010420)	both adrenal glands wet weight (CMO:0000164)	1	39728272	132889942	Rat
1578654	Bss10	Bone structure and strength QTL 10	4		femur morphology trait (VT:0000559)	femoral neck cortical cross-sectional area (CMO:0001702)	1	51940904	168768703	Rat
2300324	Fetw1	Fetal weight QTL 1	12.1	0.005	fetal growth trait (VT:0004201)	fetal body weight (CMO:0002080)	1	92963855	109494029	Rat
1331800	Scl25	Serum cholesterol level QTL 25	3.013		blood cholesterol amount (VT:0000180)	serum total cholesterol level (CMO:0000363)	1	87785026	142582336	Rat
7421628	Bp361	Blood pressure QTL 361		0.001	arterial blood pressure trait (VT:2000000)	mean arterial blood pressure (CMO:0000009)	1	83019780	128019780	Rat
631495	Bp96	Blood pressure QTL 96	4.52		arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	1	66404680	111404680	Rat
70225	Bp58	Blood pressure QTL 58	3.3		arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	1	34184556	172281316	Rat
631512	Scl6	Serum cholesterol level QTL 6	9.6		blood cholesterol amount (VT:0000180)	serum total cholesterol level (CMO:0000363)	1	81269860	99645535	Rat
2298545	Neuinf8	Neuroinflammation QTL 8	4.6		nervous system integrity trait (VT:0010566)	spinal cord beta-2 microglobulin mRNA level (CMO:0002125)	1	66009857	160501508	Rat
10059597	Bp377	Blood pressure QTL 377	3.42	0.025	arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	1	34565911	208798288	Rat
631519	Pia11	Pristane induced arthritis QTL 11	5.3		joint integrity trait (VT:0010548)	joint inflammation composite score (CMO:0000919)	1	93903998	191260518	Rat
1302788	Scl19	Serum cholesterol QTL 19	4.6	0.001	blood cholesterol amount (VT:0000180)	plasma total cholesterol level (CMO:0000585)	1	66400974	132889942	Rat
1549903	Bp267	Blood pressure QTL 267			arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	1	84107164	115183752	Rat
2313083	Bmd74	Bone mineral density QTL 74	4	0.0001	tibia mineral mass (VT:1000283)	total volumetric bone mineral density (CMO:0001728)	1	91302413	136302413	Rat
2313402	Anxrr24	Anxiety related response QTL 24			aggression-related behavior trait (VT:0015014)	tameness/aggressiveness composite score (CMO:0002136)	1	51511344	153680016	Rat
61342	Bp27	Blood pressure QTL 27	3.4	0.0006	arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	1	65405637	96805205	Rat
1358192	Ept13	Estrogen-induced pituitary tumorigenesis QTL 13	3.4		pituitary gland mass (VT:0010496)	pituitary gland wet weight (CMO:0000853)	1	86622262	131622262	Rat
6903308	Scl36	Serum cholesterol QTL 36	2	0.0125	blood cholesterol amount (VT:0000180)	plasma total cholesterol level (CMO:0000585)	1	58769992	103769992	Rat
2300164	Bmd44	Bone mineral density QTL 44	5.4	0.0001	lumbar vertebra mineral mass (VT:0010511)	volumetric bone mineral density (CMO:0001553)	1	66077886	111077886	Rat
738022	Anxrr13	Anxiety related response QTL 13	4.6	0.00039	locomotor behavior trait (VT:0001392)	measurement of voluntary locomotion into, out of, or within a discrete space in an open field apparatus (CMO:0001514)	1	92683681	137683681	Rat
10054135	Gmadr2	Adrenal mass QTL 2	1.97	0.0129	adrenal gland mass (VT:0010420)	both adrenal glands wet weight (CMO:0000164)	1	86993904	131993904	Rat
152025249	Scl82	Serum cholesterol level QTL 82	4.77		blood cholesterol amount (VT:0000180)		1	52891222	109116986	Rat
1331749	Hrtrt11	Heart rate QTL 11	2.973		heart pumping trait (VT:2000009)	heart rate (CMO:0000002)	1	92683681	137683681	Rat
7411712	Strs4	Sensitivity to stroke QTL 4	8.7		cerebrum integrity trait (VT:0010549)	percentage of study population developing cerebrovascular lesions during a period of time (CMO:0000932)	1	87558587	132558587	Rat

Markers in Region

D1Wox80

Rat Assembly	Chr	Position (strand)	Source	JBrowse
mRatBN7.2	1	85,747,702 - 85,747,874 (+)	MAPPER	mRatBN7.2
Rnor_6.0	1	88,949,186 - 88,949,355	NCBI	Rnor6.0
Rnor_5.0	1	90,105,051 - 90,105,220	UniSTS	Rnor5.0
RGSC_v3.4	1	85,442,859 - 85,443,028	UniSTS	RGSC3.4
Celera	1	80,119,661 - 80,119,830	UniSTS
Cytogenetic Map	1	q22	UniSTS

PMC164293P1

Rat Assembly	Chr	Position (strand)	Source	JBrowse
mRatBN7.2	1	85,724,699 - 85,724,877 (+)	MAPPER	mRatBN7.2
Rnor_6.0	1	88,926,319 - 88,926,496	NCBI	Rnor6.0
Rnor_5.0	1	90,081,710 - 90,081,887	UniSTS	Rnor5.0
RGSC_v3.4	1	85,418,379 - 85,418,556	UniSTS	RGSC3.4
Celera	1	80,096,809 - 80,096,986	UniSTS
Cytogenetic Map	1	q22	UniSTS

PMC164293P2

Rat Assembly	Chr	Position (strand)	Source	JBrowse
mRatBN7.2	1	85,724,723 - 85,724,877 (+)	MAPPER	mRatBN7.2
Rnor_6.0	1	88,926,343 - 88,926,496	NCBI	Rnor6.0
Rnor_5.0	1	90,081,734 - 90,081,887	UniSTS	Rnor5.0
RGSC_v3.4	1	85,418,403 - 85,418,556	UniSTS	RGSC3.4
Celera	1	80,096,833 - 80,096,986	UniSTS
Cytogenetic Map	1	q22	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system	visual system
16	12	35	147	63	62	31	25	31	6	222	93	10	118	74	67	31	15	15

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_022628	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_008759186	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_008759187	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF125521	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF161715	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF172255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH473979	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	JAXUCZ010000001	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENSRNOT00000045212 ⟹ ENSRNOP00000049922

Type:

CODING

Position:

Rat Assembly	Chr	Position (strand)	Source
GRCr8 Ensembl	1	94,848,261 - 94,876,521 (+)	Ensembl
mRatBN7.2 Ensembl	1	85,720,812 - 85,749,078 (+)	Ensembl
Rnor_6.0 Ensembl	1	88,922,433 - 88,950,559 (+)	Ensembl

Ensembl Acc Id:

ENSRNOT00000145765 ⟹ ENSRNOP00000104408

Type:

CODING

Position:

Rat Assembly	Chr	Position (strand)	Source
GRCr8 Ensembl	1	94,848,261 - 94,876,521 (+)	Ensembl

RefSeq Acc Id:

NM_022628 ⟹ NP_072150

RefSeq Status:

PROVISIONAL

Type:

CODING

Position:

Rat Assembly	Chr	Position (strand)	Source
GRCr8	1	94,848,261 - 94,876,522 (+)	NCBI
mRatBN7.2	1	85,720,812 - 85,749,079 (+)	NCBI
Rnor_6.0	1	88,922,433 - 88,950,560 (+)	NCBI
Rnor_5.0	1	90,077,799 - 90,106,425 (+)	NCBI
RGSC_v3.4	1	85,414,492 - 85,444,233 (+)	RGD
Celera	1	80,092,938 - 80,121,035 (+)	RGD

Sequence:

show sequence

CAAAGTGAGCTCACCCTGGGTCCAAGAAATGTTCCCATGCTGTGTCTGACGCTTTTGGCTTTCT
GGGTTCATGGAACTGCTGGACCCAGCACAGCTGGTGAGCTCTGAGTGCCTGTGAGTGGGTGAGA
GGGAGATAGTAAAGGATAAGAAAGAGAAACGGAGAGAAGATAGGCGGGGATTTTTGAGCACTTG
GGATTGGAACTGAGAGAAAGAACTGTTAGCAGGGGGAGAAAGACTGCGACAGTCACAGACAATG
AGAGGAGTCTAGGAAGATAGGGAGAAAGAAGAAAAGGAAGGAAGGAGAGAGGAAGGAGAGAAGG
GGAGTTACAAAAAGAGATCAAAAGAAAAGAAAAGGACACAGAGAGAGGCTCAGGGAAGACCTCA
ACAATCCAAGCTGCCAGTAATGGGCGCTAAGAGAGTCACTGTCAGAGGTGCCCGGACAAGCCCA
ATACACAGAACGTCCAGTTTGACTCCCCTGCTGCTCATGGGAATGCTGACCTCAGGCCTGGCCG
AGTCGCCAGTCCCCACCTCAGCACCTCAAGGCTTCTGGGCTCTGTCTGAAAACCTGACTGCGGT
GGAAGGGACAACAGTTAAGCTATGGTGCGGTGTCAGGGCCCCTGGCAGTGTGGTGCAGTGGGCT
AAGGATGGGCTGCTTCTGGGTCCAAACCCGAAGATGCCAGGCTTCCCGAGGTACAGCCTGGAAG
GAGATCGTGCTAAAGGCGAGTTCCACCTGCTTATTGAAGCCTGTGACCTCAGTGATGACGCAGA
GTATGAATGCCAAGTCGGCCGCTCAGAGTTGGGTCCCGAGCTTGTGTCTCCTAAAGTAATCCTC
TCCATTCTAGTTTCCCCCAAGGTGCTTCTGTTGACCCCCGAGGCAGGAAGCACAGTGACCTGGG
TAGCTGGGCAGGAGTATGTGGTCACCTGTGTGTCTGGAGATGCAAAACCAGCACCTGACATCAC
CTTCATCCAGAGTGGACGAACTATATTGGACGTCTCCTCCAATGTGAATGAGGGATCAGAGGAG
AAACTCTGCATCACAGAGGCCGAAGCCAGGGTGATACCCCAGAGCTCGGATAACGGGCAGTTAC
TGGTCTGTGAGGGTTCCAACCCAGCTTTGGACACTCCCATAAAGGCTTCATTCACCATGAATAT
TCTGTTTCCCCCAGGACCTCCTGTCATTGATTGGCCAGGCCTGAATGAGGGGCATGTGAGGGCA
GGGGAGAACCTGGAGCTGCCCTGCACAGCCAGAGGTGGCAATCCACCTGCTACCCTGCAGTGGC
TGAAGAACGGTAAACCAGTGTCCACAGCCTGGGGCACCGAGCATGCCCAGGCAGTGGCCCACAG
CGTGCTGGTGATGACTGTACGACCTGAAGACCATGGAGCTCGGCTCAGCTGTCAGTCCTACAAC
AGCGTGTCTGCAGGGACCCAGGAGAGAAGCATCACACTACAGGTCACCTTTCCCCCAAGCGCCA
TTACCATCCTGGGATCTGTATCACAATCGGAGAACAAGAACGTGACCCTTTGCTGCCTGACCAA
GTCCAGTCGCCCACGGGTCCTGCTGCGATGGTGGTTGGGTGGACGGCAGCTGCTGCCCACAGAT
GAGACAGTCATGGATGGCCTGCATGGTGGCCACATCTCCATGTCCAATCTCACATTCTTGGTGC
GGAGAGAAGACAATGGCCTGCCCCTCACCTGTGAAGCCTTCAGTGACGCCTTCAGCAAGGAGAC
CTTCAAGAAGTCACTCACCTTGAATGTGAAATACCCTGCCCAGAAGCTGTGGATTGAGGGGCCC
CCAGAGGGACAGTACATCCGGACTGGGACTCGGGTGAGGCTGGTATGCTTGGCCATCGGAGGCA
ACCCAGACCCCTCCCTCATCTGGTTTAAGGATTCACGTCCGGTGAGCGAGCCCCGGCAGCCCCA
GGAGCCCCGGCGTGTGCAGCTGGGCAGTGTGGAGAAGTCCGGGAGCACTTTCTCCCGCGAGCTG
GTGTTGATCATAGGTCCGCCGGACAACCGAGCCAAGTTCTCCTGCAAGGCGGGTCAGCTCAGTG
CGTCTACGCAGCTGGTGGTGCAGTTCCCCCCAACCAACCTGACCATCCTGGCCAACTCGTCCGC
GCTGCGCCCAGGCGACGCCTTGAACTTGACCTGCGTCAGCATCAGCAGCAACCCCCCAGTCAAC
TTGTCTTGGGACAAGGAAGGAGAGAGGCTGGAAGATGTGGCTGCAAAACCCCAGAGTGCACCGT
TCAAAGGCTCCGCTGCATCCAGGAGTGTTTTTCTCAGAGTGTCATCCCGAGACCACGGTCAACG
GGTCACCTGCCGGGCCCACAGCGAGGCACTCCGTGAAACCGTGAGCTCCTTCTACCGCTTCAAT
GTGCTGTATCCTCCAGAATTCCTGGGGGAGCAAGTCCGGGCAGTGACCGTGGTGGAGCAGGGCC
AGGTGCTGCTGCCGGTGTCGGTGTCCGCTAACCCCGCCCCCGAGGCCTTCAACTGGACCTTCCG
AGGCTACCGCCTCAGCCCAGCTGGGGGTCCCCGGCACCGTATCCTGTCTGGAGGGGCTCTGCAG
CTGTGGAATGTGACCCGAGCTGACGATGGCTTTTATCAGCTGCACTGCCAGAACTCAGAGGGCA
CCGCTGAGGCGCTGTTGAAGCTGGACGTGCATTATGCTCCCACCATCCGTGCCCTCCGGGACCC
TACTGAGGTGAATGTTGGGGGTTCTGTGGACATAGTCTGCACCGTTGACGCCAATCCCATCCTC
CCAGAGATGTTCAGCTGGGAGAGACTGGGAGAAGAAGAGGAGGATCTGAACCTGGACGACATGG
AGAAAGTTTCCAAGGGATCCACGGGGCGTCTGCGGATTCGCCAAGCCAAGCTATCCCAGGCTGG
TGCCTACCAGTGCATCGTGGACAATGGGGTGGCTCCTGCAGCCAGAGGACTGGTTCGTCTTGTC
GTCCGATTTGCTCCCCAGGTGGATCAGCCTACTCCCCTAACAAAAGTGGCTGCCGCTGGGGACA
GCACCAGCTCAGCCACACTGCACTGCCGTGCCCGGGGTGTCCCCAACATCGACTTCACTTGGAC
CAAAAACGGGGTCCCTCTGGATCTCCAAGACCCCAGGTACACAGAGCACAGGTACCACCAGGGT
GTTGTCCACAGCAGCCTCTTGACCATCGCTAATGTGTCTGCGGCCCAGGACTATGCCCTCTTCA
AATGCACGGCCACCAATGCCCTTGGCTCTGACCACACCAACATCCAGCTCGTCAGCATCAGCCG
CCCTGACCCTCCACTGGGACTGAAGGTTGTCAGCATAAGCCCTCACTCGGTGGGGCTGGAGTGG
AAGCCTGGCTTTGATGGGGGTCTGCCTCAGAGGTTCCAAATCAGGTACGAGGCCCTCGAGACCC
CAGGATTCCTCCACGTGGATGTCCTACCTACACAGGCCACTACCTTCACGCTGACTGGGCTGAA
GCCTTCTACACGATATAGGATCTGGCTGTTGGCCAGCAATGCCCTGGGGGACAGTGGATTGACG
GACAAGGGGATCCAGGTCTCCGTCACTACCCCAGGCCCCGACCAGGCTCCTGAAGACACAGACC
ACCAGCTGCCCACAGAGCTGCCTCCAGGACCCCCAAGGCTGCCCCTGCTGCCTGTGCTCTTTGC
AGTTGGTGGTCTTCTGCTGCTCTCCAATGCCTCCTGTGTTGGGGGTCTCCTCTGGCGGAGAAGA
CTGAGGCGCCTTGCTGAGGAGATCTCAGAGAAGACAGAGGCAGGGTCGGAGGACAGGATCAGGA
ATGAATATGAGGAGAGTCAGTGGACTGGGGACCGGGACACGAGAAGCTCCACGGTTAGCACAGC
AGAAGTGGACCCAAATTACTACTCCATGAGGGACTTCAGCCCCCAGCTTCCCCCAACACTGGAG
GAGGTGCTGTATCACCAAGGTGCTGAAGGCGAGGACATGGCCTTCCCCGGACACCTGCATGATG
AAGTGGAGAGAGCCTATGGCCCGCCTGGGGCCTGGGGACCCCTCTATGATGAAGTACGAATGGA
CCCCTATGACCTTCGCTGGCCTGAGGTCCAGTGTGAGGATCCGAGGGGAATCTACGACCAGGTG
GCAGCAGACATGGATGCTGTGGAAGCTAGCTCTCTGCCGTTTGAGCTGAGGGGACATCTGGTGT
GAGACGCTTCACAACACCCGTTTCCTACAGCCCTGGAGAAGATGTGAGGGGATGTGTTCAAGTG
ACAAGAGGACTCAGGCTGACATCTGGGATGACCAAGACTCCTTTAATTGGAATGGGCTTCTCTG
AAGAGACAAAGTCATTTGGAAACGACATTTGGACAATGGAAATCCACTTTAGGGGGTCATTATA
CTTTTCAGAAGTAAAATTTTTAGATGTAGGAAAGACTCATTAAAAATCCTGTTCCAAGCCTGGG
GATGAGCCCAGTGGGAGTCCTGCCATTACACACACACACACACACACACACACACACACACACA
CACACACACACAGAGCTGTACATGCTGGCCCATCACTGTCATTCCAGCTCTGCAGGAAGCTGAG
AGAGGAGAAGCACAAGAACAAAGTCACTGAATATTTAGAGGCTGGAAAGATGGCTCAGAAGTTG
AAGCTCTAACAGCAGTCACTGCTCTTGCAGAGGACCCGAGTTTGGTTCTCAGCACCCAAATCAG
GTAACCGACAATGACATCTGCATCCCCAGGGAATCTGATGCTTCTTTCTTCTGATCTCCATGGG
CAGATGCACTTATGTGCACATACCCACACATAGAAACACACATATACGCACAATTAAAAATAAA
ATAAATCCAACTGTATGGTGACCCACACCTTTAATCCTAGCACTTGAGAAGTAGAAGCAGGGGG
ATTTCTATAAGTTTGAGGCTTATAACTTAGTGAGTTCTGAGATCCATAGTGAAACCCTGACTCA
AAACAAATAATAATTTTTAAAACGTCAGAATTAAAAGGGGCGTGGCTCAGTGGTAAAGCCCCTG
TCTAGAATCCCCCAGTGAGGGACTGGGGGCGTGGCTCAGTGGTAGAGCCCCTGCCTAGAATCCC
CCAATGAGGGATTGGGGGCGTGGCTCAGTGGTAGAGCCCCTGCCTAGAATCCCCCAGTGAGGGG
CTGGGGGCGTGGCTCAGTGGTAAAGCTCTTGCCTGGCATGCACAAGAATCTGAATTCTATCCCT
AGTATCCAAAAGAACAAGACAAAGGCTCCAGTTTATTTTAAGATCAGTTACATCTGAAATAGTT
AATATTATTAAGCAAAATTATAGACCATGTCAGATCTTAGCTGTTTTTTGTTTTATCTTCCACA
GTTTGTGAAACATATATGCACTGACACGCAAACAGGAACAGATTGTAGCAAAGGGATGAAGTTA
TGAGAGAATGAACACTTGCCATTTTATTTATGGGCGTAGCTTAGGGACCATGCACTGGTGTATA
CTTAGAATTAAAGGGTATGGTAGCTTTAATTCATTTTCAAAATTTTAAAAAATGCACATTTATA
GAGACAGAAAAGGGTAAGCTCAGACTCAAATGTTGACACTGGATGTGGTTAGCGCAGAATGAAA
ATTAAAATTGAAGAGTTGATGTAATAATAAATGATGACGTCACAGAAGCAAGAACGTGATTGGC
GGCTAGGACTTAGGGGCTGTGGAATTCTAGATGTCACACTTTGGAAAATAATCTACATCACACT
TATTTGCGCGTGTGTGCGTGTGTGTGTGTCCACACGCATGTGCGATGTGTGCATGCTTATGCGC
CTGACAGTGTACGCCACACAAAATAAATAAAATGTAAACATTAAAAAAAAAAAAAAAAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_072150	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAF12734	(Get FASTA)	NCBI Sequence Viewer
	AAF14884	(Get FASTA)	NCBI Sequence Viewer
	AAF91086	(Get FASTA)	NCBI Sequence Viewer
	EDM07757	(Get FASTA)	NCBI Sequence Viewer
	EDM07758	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSRNOP00000104408
GenBank Protein	Q9R044	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_072150 ⟸ NM_022628
- Peptide Label:	precursor
- UniProtKB:	Q9QXX7 (UniProtKB/Swiss-Prot), Q9JIX2 (UniProtKB/Swiss-Prot), Q9R044 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MGAKRVTVRGARTSPIHRTSSLTPLLLMGMLTSGLAESPVPTSAPQGFWALSENLTAVEGTTVK LWCGVRAPGSVVQWAKDGLLLGPNPKMPGFPRYSLEGDRAKGEFHLLIEACDLSDDAEYECQVG RSELGPELVSPKVILSILVSPKVLLLTPEAGSTVTWVAGQEYVVTCVSGDAKPAPDITFIQSGR TILDVSSNVNEGSEEKLCITEAEARVIPQSSDNGQLLVCEGSNPALDTPIKASFTMNILFPPGP PVIDWPGLNEGHVRAGENLELPCTARGGNPPATLQWLKNGKPVSTAWGTEHAQAVAHSVLVMTV RPEDHGARLSCQSYNSVSAGTQERSITLQVTFPPSAITILGSVSQSENKNVTLCCLTKSSRPRV LLRWWLGGRQLLPTDETVMDGLHGGHISMSNLTFLVRREDNGLPLTCEAFSDAFSKETFKKSLT LNVKYPAQKLWIEGPPEGQYIRTGTRVRLVCLAIGGNPDPSLIWFKDSRPVSEPRQPQEPRRVQ LGSVEKSGSTFSRELVLIIGPPDNRAKFSCKAGQLSASTQLVVQFPPTNLTILANSSALRPGDA LNLTCVSISSNPPVNLSWDKEGERLEDVAAKPQSAPFKGSAASRSVFLRVSSRDHGQRVTCRAH SEALRETVSSFYRFNVLYPPEFLGEQVRAVTVVEQGQVLLPVSVSANPAPEAFNWTFRGYRLSP AGGPRHRILSGGALQLWNVTRADDGFYQLHCQNSEGTAEALLKLDVHYAPTIRALRDPTEVNVG GSVDIVCTVDANPILPEMFSWERLGEEEEDLNLDDMEKVSKGSTGRLRIRQAKLSQAGAYQCIV DNGVAPAARGLVRLVVRFAPQVDQPTPLTKVAAAGDSTSSATLHCRARGVPNIDFTWTKNGVPL DLQDPRYTEHRYHQGVVHSSLLTIANVSAAQDYALFKCTATNALGSDHTNIQLVSISRPDPPLG LKVVSISPHSVGLEWKPGFDGGLPQRFQIRYEALETPGFLHVDVLPTQATTFTLTGLKPSTRYR IWLLASNALGDSGLTDKGIQVSVTTPGPDQAPEDTDHQLPTELPPGPPRLPLLPVLFAVGGLLL LSNASCVGGLLWRRRLRRLAEEISEKTEAGSEDRIRNEYEESQWTGDRDTRSSTVSTAEVDPNY YSMRDFSPQLPPTLEEVLYHQGAEGEDMAFPGHLHDEVERAYGPPGAWGPLYDEVRMDPYDLRW PEVQCEDPRGIYDQVAADMDAVEASSLPFELRGHLV hide sequence

Ensembl Acc Id:

ENSRNOP00000049922 ⟸ ENSRNOT00000045212

Ensembl Acc Id:

ENSRNOP00000104408 ⟸ ENSRNOT00000145765

Protein Domains

Fibronectin type-III Ig-like Ig-like C2-type

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9R044-F1-model_v2	AlphaFold	Q9R044	1-1252	view protein structure

Transcriptome

eQTL		View at Phenogen
WGCNA		View at Phenogen
Tissue/Strain Expression		View at Phenogen

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	RGD:620460	AgrOrtholog
BioCyc Gene	G2FUF-60108	BioCyc
Ensembl Genes	ENSRNOG00000020873	Ensembl, ENTREZGENE
Ensembl Transcript	ENSRNOT00000145765	ENTREZGENE
Gene3D-CATH	2.60.40.10	UniProtKB/Swiss-Prot
InterPro	CD80_C2-set	UniProtKB/Swiss-Prot
	Cell_adhesion_signaling	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	rno:64563	UniProtKB/Swiss-Prot
NCBI Gene	64563	ENTREZGENE
PANTHER	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
RatGTEx	ENSRNOG00000020873	RatGTEx
SMART	FN3	UniProtKB/Swiss-Prot
	IGc2	UniProtKB/Swiss-Prot
	SM00409	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF48726	UniProtKB/Swiss-Prot
	SSF49265	UniProtKB/Swiss-Prot
UniProt	A0A140TAG4_RAT	UniProtKB/TrEMBL
	A0ABK0L4M3_RAT	UniProtKB/TrEMBL
	A6J9X6_RAT	UniProtKB/TrEMBL
	A6J9X7_RAT	UniProtKB/TrEMBL
	NPHN_RAT	UniProtKB/Swiss-Prot
	Q9JIX2	ENTREZGENE
	Q9QXX7	ENTREZGENE
	Q9R044	ENTREZGENE
UniProt Secondary	Q9JIX2	UniProtKB/Swiss-Prot
	Q9QXX7	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2019-04-04	Nphs1	NPHS1 adhesion molecule, nephrin	Nphs1	NPHS1 nephrin	Nomenclature updated to reflect human and mouse nomenclature	1299863	APPROVED
2016-02-17	Nphs1	NPHS1 nephrin	Nphs1	nephrosis 1, congenital, Finnish type (nephrin)	Nomenclature updated to reflect human and mouse nomenclature	1299863	APPROVED
2012-10-05	Nphs1	nephrosis 1, congenital, Finnish type (nephrin)	Nphs1	nephrosis 1, congenital, Finnish type	Nomenclature updated to reflect human and mouse nomenclature	1299863	APPROVED
2011-07-06	Nphs1	nephrosis 1, congenital, Finnish type	Nphs1	nephrosis 1 homolog (human)	Nomenclature updated to reflect human and mouse nomenclature	1299863	APPROVED
2009-11-06	Nphs1	nephrosis 1 homolog (human)	Nphs1	nephrosis 1 homolog, nephrin (human)	Nomenclature updated to reflect human and mouse nomenclature	1299863	APPROVED
2004-12-14	Nphs1	nephrosis 1 homolog, nephrin (human)		nephrin	Name updated	1299863	APPROVED
2002-08-07	Nphs1				Symbol and Name status set to provisional	70820	PROVISIONAL

RGD Curation Notes

Note Type	Note	Reference
gene_disease	human homolog is mutated in congenital nephrotic syndrome of the Finnish type	633453

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Send us a Message

Imported Disease Annotations - MGI