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

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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 JNK cascade; cell adhesion; and positive regulation of actin filament polymerization. Located in several cellular components, including basement membrane; membrane raft; 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 Genes
More Info more info ...
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position:
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_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0199,603,840 - 99,632,046 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0192,895,953 - 92,924,165 (+)NCBIRnor_WKY
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
JBrowse: View Region in Genome Browser (JBrowse)
Model


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
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_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0199,603,840 - 99,632,046 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0192,895,953 - 92,924,165 (+)NCBIRnor_WKY
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
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381935,862,915 - 35,869,357 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 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
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
PanPan1.11941,492,126 - 41,518,587 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1941,492,444 - 41,518,471 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01932,742,802 - 32,770,600 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
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
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
168 total Variants
miRNA Target Status

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 (mRatBN7.2)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1554320Bmd1Bone mineral density QTL 112.20.0001femur mineral mass (VT:0010011)volumetric bone mineral density (CMO:0001553)150910886060548Rat
631688Hcas2Hepatocarcinoma susceptibility QTL 230.0001liver integrity trait (VT:0010547)liver tumorous lesion number (CMO:0001068)15925874115540829Rat
631495Bp96Blood pressure QTL 964.52arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)122340647102268831Rat
1358359Sradr1Stress Responsive Adrenal Weight QTL 14.74adrenal gland mass (VT:0010420)both adrenal glands wet weight (CMO:0000164)130882023123479925Rat
70225Bp58Blood pressure QTL 583.3arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)132356093162846471Rat
1300172Bp172Blood pressure QTL 1723.56arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)13273727390665040Rat
10059597Bp377Blood pressure QTL 3773.420.025arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)132737458199368955Rat
2313051Bss57Bone structure and strength QTL 573.70.0001tibia strength trait (VT:1000284)bone polar moment of inertia (CMO:0001558)143284731118944897Rat
2313059Bss55Bone structure and strength QTL 553.20.0001tibia size trait (VT:0100001)tibia midshaft cross-sectional area (CMO:0001717)143284731118944897Rat
2313072Bss53Bone structure and strength QTL 534.30.0001tibia length (VT:0004357)tibia length (CMO:0000450)143284731118944897Rat
2313078Bss54Bone structure and strength QTL 543.50.0001tibia area (VT:1000281)tibia midshaft cross-sectional area (CMO:0001717)143284731118944897Rat
2313094Bss58Bone structure and strength QTL 583.70.0001tibia strength trait (VT:1000284)tibia total energy absorbed before break (CMO:0001736)143284731118944897Rat
2313098Bmd70Bone mineral density QTL 703.60.0001tibia mineral mass (VT:1000283)compact volumetric bone mineral density (CMO:0001730)143284731118944897Rat
2313099Bss56Bone structure and strength QTL 562.40.0001tibia size trait (VT:0100001)tibia midshaft endosteal cross-sectional area (CMO:0001716)143284731118944897Rat
2302059Pia36Pristane induced arthritis QTL 363.80.001blood immunoglobulin amount (VT:0002460)serum immunoglobulin G1 level (CMO:0002115)14333300288333002Rat
2313402Anxrr24Anxiety related response QTL 24aggression-related behavior trait (VT:0015014)tameness/aggressiveness composite score (CMO:0002136)148963584144267916Rat
1578649Bmd8Bone mineral density QTL 84.9femur mineral mass (VT:0010011)trabecular volumetric bone mineral density (CMO:0001729)14939317294393172Rat
1578654Bss10Bone structure and strength QTL 104femur morphology trait (VT:0000559)femoral neck cortical cross-sectional area (CMO:0001702)149393172159356837Rat
634314Niddm44Non-insulin dependent diabetes mellitus QTL 44blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)149393289199050459Rat
6903308Scl36Serum cholesterol QTL 3620.0125blood cholesterol amount (VT:0000180)plasma total cholesterol level (CMO:0000585)15386304190532583Rat
61342Bp27Blood pressure QTL 273.40.0006arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)15673266898773277Rat
2300164Bmd44Bone mineral density QTL 445.40.0001lumbar vertebra mineral mass (VT:0010511)volumetric bone mineral density (CMO:0001553)156949932101949932Rat
2298545Neuinf8Neuroinflammation QTL 84.6nervous system integrity trait (VT:0010566)spinal cord beta-2 microglobulin mRNA level (CMO:0002125)157336763151090257Rat
1300121Hrtrt1Heart rate QTL 13.7heart pumping trait (VT:2000009)heart rate (CMO:0000002)165789093115540829Rat
7421628Bp361Blood pressure QTL 3610.001arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)166023617118608521Rat
631512Scl6Serum cholesterol level QTL 69.6blood cholesterol amount (VT:0000180)serum total cholesterol level (CMO:0000363)17219768090508767Rat
1358192Ept13Estrogen-induced pituitary tumorigenesis QTL 133.4pituitary gland mass (VT:0010496)pituitary gland wet weight (CMO:0000853)177494165122494165Rat
10054135Gmadr2Adrenal mass QTL 21.970.0129adrenal gland mass (VT:0010420)both adrenal glands wet weight (CMO:0000164)177857876122857876Rat
1549903Bp267Blood pressure QTL 267arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)177876254106047988Rat
61344Bp29Blood pressure QTL 297.5arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)178350581123350581Rat
7411712Strs4Sensitivity to stroke QTL 48.7cerebrum integrity trait (VT:0010549)percentage of study population developing cerebrovascular lesions during a period of time (CMO:0000932)178430536123430536Rat
61433Cia2Collagen induced arthritis QTL 25joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)17843075491209302Rat
1582234Gluco18Glucose level QTL 183.40.0003blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)178479925123479925Rat
4889494Scort2Serum corticosterone level QTL 24.2blood corticosterone amount (VT:0005345)plasma corticosterone level (CMO:0001173)180592172125592172Rat
1578780Cm52Cardiac mass QTL 523.30.0001heart mass (VT:0007028)heart wet weight (CMO:0000069)181591954219808434Rat
2313083Bmd74Bone mineral density QTL 7440.0001tibia mineral mass (VT:1000283)total volumetric bone mineral density (CMO:0001728)182174743118944897Rat
738022Anxrr13Anxiety related response QTL 134.60.00039locomotor behavior trait (VT:0001392)number of 20 x 20 cm floor squares crossed into, out of or within a discrete space in an experimental apparatus (CMO:0001514)183547917128547917Rat
2300324Fetw1Fetal weight QTL 112.10.005fetal growth trait (VT:0004201)fetal body weight (CMO:0002080)185424647100358001Rat

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
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 appendage
High
Medium 31 1
Low 2 13 19 1 1 32 2 11 11 1
Below cutoff 1 23 16 13 13 7 10 40 2 22 7

Sequence


Reference Sequences
RefSeq Acc Id: ENSRNOT00000045212   ⟹   ENSRNOP00000049922
RefSeq Status:
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl185,720,812 - 85,749,078 (+)Ensembl
Rnor_6.0 Ensembl188,922,433 - 88,950,559 (+)Ensembl
RefSeq Acc Id: NM_022628   ⟹   NP_072150
RefSeq Status: PROVISIONAL
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2185,720,812 - 85,749,079 (+)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:
Reference Sequences
RefSeq Acc Id: NP_072150   ⟸   NM_022628
- Peptide Label: precursor
- UniProtKB: Q9R044 (UniProtKB/Swiss-Prot),   A0A140TAG4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSRNOP00000049922   ⟸   ENSRNOT00000045212
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, UniProtKB/TrEMBL
Ensembl Protein ENSRNOP00000049922 ENTREZGENE
  ENSRNOP00000049922.4 UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000045212 ENTREZGENE
  ENSRNOT00000045212.5 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
InterPro CD80_C2-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_I-set UniProtKB/Swiss-Prot
  Ig_sub UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report rno:64563 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 64563 ENTREZGENE
PANTHER NEPHRIN UniProtKB/Swiss-Prot
  NEPHRIN UniProtKB/Swiss-Prot
  NEPHRIN UniProtKB/TrEMBL
  NEPHRIN UniProtKB/TrEMBL
Pfam C2-set_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  fn3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  I-set UniProtKB/Swiss-Prot
  Ig_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Nphs1 PhenoGen
PROSITE FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IGc2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00409 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49265 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A140TAG4 ENTREZGENE, UniProtKB/TrEMBL
  NPHN_RAT UniProtKB/Swiss-Prot, 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