Nphs1 (NPHS1 adhesion molecule, nephrin) - Rat Genome Database

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Gene: Nphs1 (NPHS1 adhesion molecule, nephrin) Rattus norvegicus
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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
Human
Mouse
Chinchilla
Bonobo
Squirrel
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCr8 - GRCr8 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8194,848,261 - 94,876,522 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl194,848,261 - 94,876,521 (+)EnsemblGRCr8
mRatBN7.2185,720,812 - 85,749,079 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl185,720,812 - 85,749,078 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx191,137,685 - 91,165,886 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0199,603,840 - 99,632,046 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0192,895,953 - 92,924,165 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Dahl_SR_JrHsd193,464,235 - 93,492,493 (+)NCBIDahl_SR_JrHsd
Lyon_Normotensive198,606,723 - 98,634,945 (+)NCBILyon_Normotensive
Lyon_Hypertensive195,140,018 - 95,168,240 (+)NCBILyon_Hypertensive
F344_StmMcwi193,591,320 - 93,619,523 (+)NCBIF344_StmMcwi
Rnor_6.0188,922,346 - 88,950,560 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl188,922,433 - 88,950,559 (+)Ensemblrn6Rnor6.0
Rnor_5.0190,077,799 - 90,106,425 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4185,414,492 - 85,444,233 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera180,092,938 - 80,121,035 (+)NCBICelera
RGSC_v3.1185,516,160 - 85,522,343 (+)NCBI
Cytogenetic Map1q21NCBI
JBrowse:




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

Cellular Component

Molecular Function

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 AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8194,848,261 - 94,876,522 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl194,848,261 - 94,876,521 (+)EnsemblGRCr8
mRatBN7.2185,720,812 - 85,749,079 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl185,720,812 - 85,749,078 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx191,137,685 - 91,165,886 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0199,603,840 - 99,632,046 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0192,895,953 - 92,924,165 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Dahl_SR_JrHsd193,464,235 - 93,492,493 (+)NCBIDahl_SR_JrHsd
Lyon_Normotensive198,606,723 - 98,634,945 (+)NCBILyon_Normotensive
Lyon_Hypertensive195,140,018 - 95,168,240 (+)NCBILyon_Hypertensive
F344_StmMcwi193,591,320 - 93,619,523 (+)NCBIF344_StmMcwi
Rnor_6.0188,922,346 - 88,950,560 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl188,922,433 - 88,950,559 (+)Ensemblrn6Rnor6.0
Rnor_5.0190,077,799 - 90,106,425 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4185,414,492 - 85,444,233 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera180,092,938 - 80,121,035 (+)NCBICelera
RGSC_v3.1185,516,160 - 85,522,343 (+)NCBI
Cytogenetic Map1q21NCBI
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 (-)Ensemblhg38GRCh38
GRCh371936,316,274 - 36,342,895 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361941,008,697 - 41,034,579 (-)NCBIBuild 36Build 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 EnsemblGRCm39
GRCm38730,458,207 - 30,488,623 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl730,458,315 - 30,487,223 (+)Ensemblmm10GRCm38
MGSCv37731,245,077 - 31,273,628 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
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
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554682,714,419 - 2,734,830 (+)Ensembl
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 (-)EnsemblpanPan2panpan1.1
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 (+)EnsemblSpeTri2.0 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 (-)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
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_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_00462479410,117,464 - 10,138,511 (-)NCBIHetGla 1.0HetGla 1.0hetGla2

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.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1578649Bmd8Bone mineral density QTL 84.9femur mineral mass (VT:0010011)trabecular volumetric bone mineral density (CMO:0001729)151940904101229020Rat
1582234Gluco18Glucose level QTL 183.40.0003blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)187889942132889942Rat
1358359Sradr1Stress Responsive Adrenal Weight QTL 14.74adrenal gland mass (VT:0010420)both adrenal glands wet weight (CMO:0000164)139728272132889942Rat
634314Niddm44Non-insulin dependent diabetes mellitus QTL 44blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)151941022208479811Rat
1578654Bss10Bone structure and strength QTL 104femur morphology trait (VT:0000559)femoral neck cortical cross-sectional area (CMO:0001702)151940904168768703Rat
2300324Fetw1Fetal weight QTL 112.10.005fetal growth trait (VT:0004201)fetal body weight (CMO:0002080)192963855109494029Rat
1331800Scl25Serum cholesterol level QTL 253.013blood cholesterol amount (VT:0000180)serum total cholesterol level (CMO:0000363)187785026142582336Rat
7421628Bp361Blood pressure QTL 3610.001arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)183019780128019780Rat
631495Bp96Blood pressure QTL 964.52arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)166404680111404680Rat
70225Bp58Blood pressure QTL 583.3arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)134184556172281316Rat
631512Scl6Serum cholesterol level QTL 69.6blood cholesterol amount (VT:0000180)serum total cholesterol level (CMO:0000363)18126986099645535Rat
2298545Neuinf8Neuroinflammation QTL 84.6nervous system integrity trait (VT:0010566)spinal cord beta-2 microglobulin mRNA level (CMO:0002125)166009857160501508Rat
10059597Bp377Blood pressure QTL 3773.420.025arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)134565911208798288Rat
631519Pia11Pristane induced arthritis QTL 115.3joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)193903998191260518Rat
1302788Scl19Serum cholesterol QTL 194.60.001blood cholesterol amount (VT:0000180)plasma total cholesterol level (CMO:0000585)166400974132889942Rat
1549903Bp267Blood pressure QTL 267arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)184107164115183752Rat
2313083Bmd74Bone mineral density QTL 7440.0001tibia mineral mass (VT:1000283)total volumetric bone mineral density (CMO:0001728)191302413136302413Rat
2313402Anxrr24Anxiety related response QTL 24aggression-related behavior trait (VT:0015014)tameness/aggressiveness composite score (CMO:0002136)151511344153680016Rat
61342Bp27Blood pressure QTL 273.40.0006arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)16540563796805205Rat
1358192Ept13Estrogen-induced pituitary tumorigenesis QTL 133.4pituitary gland mass (VT:0010496)pituitary gland wet weight (CMO:0000853)186622262131622262Rat
6903308Scl36Serum cholesterol QTL 3620.0125blood cholesterol amount (VT:0000180)plasma total cholesterol level (CMO:0000585)158769992103769992Rat
2300164Bmd44Bone mineral density QTL 445.40.0001lumbar vertebra mineral mass (VT:0010511)volumetric bone mineral density (CMO:0001553)166077886111077886Rat
738022Anxrr13Anxiety related response QTL 134.60.00039locomotor behavior trait (VT:0001392)measurement of voluntary locomotion into, out of, or within a discrete space in an open field apparatus (CMO:0001514)192683681137683681Rat
152025249Scl82Serum cholesterol level QTL 824.77blood cholesterol amount (VT:0000180)152891222109116986Rat
10054135Gmadr2Adrenal mass QTL 21.970.0129adrenal gland mass (VT:0010420)both adrenal glands wet weight (CMO:0000164)186993904131993904Rat
7411712Strs4Sensitivity to stroke QTL 48.7cerebrum integrity trait (VT:0010549)percentage of study population developing cerebrovascular lesions during a period of time (CMO:0000932)187558587132558587Rat
1331749Hrtrt11Heart rate QTL 112.973heart pumping trait (VT:2000009)heart rate (CMO:0000002)192683681137683681Rat

Markers in Region
D1Wox80  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2185,747,702 - 85,747,874 (+)MAPPERmRatBN7.2
Rnor_6.0188,949,186 - 88,949,355NCBIRnor6.0
Rnor_5.0190,105,051 - 90,105,220UniSTSRnor5.0
RGSC_v3.4185,442,859 - 85,443,028UniSTSRGSC3.4
Celera180,119,661 - 80,119,830UniSTS
Cytogenetic Map1q22UniSTS
PMC164293P1  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2185,724,699 - 85,724,877 (+)MAPPERmRatBN7.2
Rnor_6.0188,926,319 - 88,926,496NCBIRnor6.0
Rnor_5.0190,081,710 - 90,081,887UniSTSRnor5.0
RGSC_v3.4185,418,379 - 85,418,556UniSTSRGSC3.4
Celera180,096,809 - 80,096,986UniSTS
Cytogenetic Map1q22UniSTS
PMC164293P2  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2185,724,723 - 85,724,877 (+)MAPPERmRatBN7.2
Rnor_6.0188,926,343 - 88,926,496NCBIRnor6.0
Rnor_5.0190,081,734 - 90,081,887UniSTSRnor5.0
RGSC_v3.4185,418,403 - 85,418,556UniSTSRGSC3.4
Celera180,096,833 - 80,096,986UniSTS
Cytogenetic Map1q22UniSTS


Expression

RNA-SEQ Expression

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


Ensembl Acc Id: ENSRNOT00000045212   ⟹   ENSRNOP00000049922
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl194,848,261 - 94,876,521 (+)Ensembl
mRatBN7.2 Ensembl185,720,812 - 85,749,078 (+)Ensembl
Rnor_6.0 Ensembl188,922,433 - 88,950,559 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000145765   ⟹   ENSRNOP00000104408
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl194,848,261 - 94,876,521 (+)Ensembl
RefSeq Acc Id: NM_022628   ⟹   NP_072150
RefSeq Status: PROVISIONAL
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8194,848,261 - 94,876,522 (+)NCBI
mRatBN7.2185,720,812 - 85,749,079 (+)NCBI
Dahl_SR_JrHsd193,464,235 - 93,492,493 (+)NCBI
Lyon_Normotensive198,606,723 - 98,634,945 (+)NCBI
Lyon_Hypertensive195,140,018 - 95,168,240 (+)NCBI
F344_StmMcwi193,591,320 - 93,619,523 (+)NCBI
Rnor_6.0188,922,433 - 88,950,560 (+)NCBI
Rnor_5.0190,077,799 - 90,106,425 (+)NCBI
RGSC_v3.4185,414,492 - 85,444,233 (+)RGD
Celera180,092,938 - 80,121,035 (+)RGD
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:
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

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