ENSMUSG00000006649


Mus musculus

Features
Gene ID: ENSMUSG00000006649
  
Biological name :Nphs1
  
Synonyms : Nephrin / Nphs1 / Q9QZS7
  
Possible biological names infered from orthology : NPHS1, nephrin / O60500
  
Species: Mus musculus
  
Chr. number: 7
Strand: 1
Band: B1
Gene start: 30458315
Gene end: 30487223
  
Corresponding Affymetrix probe sets: 10551905 (MoGene1.0st)   10551907 (MoGene1.0st)   1422142_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000006825
Ensembl peptide - ENSMUSP00000116500
Ensembl peptide - ENSMUSP00000119601
NCBI entrez gene - 54631     See in Manteia.
MGI - MGI:1859637
RefSeq - NM_019459
RefSeq - XM_011250647
RefSeq Peptide - NP_062332
swissprot - F6RCI4
swissprot - Q9QZS7
Ensembl - ENSMUSG00000006649
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 nphs1ENSDARG00000060758Danio rerio
 NPHS1ENSG00000161270Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q7TSU7 / Kirrel2 / Kin of IRRE-like protein 2 / Q6UWL6* / kirre like nephrin family adhesion molecule 2*ENSMUSG0000003691514
Q80W68 / Kirrel / Kin of IRRE-like protein 1 / Q96J84* / KIRREL1* / kirre like nephrin family adhesion molecule 1*ENSMUSG0000004173413
Q8BR86 / Kirrel3 / Kin of IRRE-like protein 3 Processed kin of IRRE-like protein 3 / Q8IZU9* / kirre like nephrin family adhesion molecule 3*ENSMUSG0000003203613


Protein motifs (from Interpro)
Interpro ID Name
 IPR003598  Immunoglobulin subtype 2
 IPR003599  Immunoglobulin subtype
 IPR003961  Fibronectin type III
 IPR007110  Immunoglobulin-like domain
 IPR013162  CD80-like, immunoglobulin C2-set
 IPR013783  Immunoglobulin-like fold
 IPR036116  Fibronectin type III superfamily
 IPR036179  Immunoglobulin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000165 MAPK cascade IDA
 biological_processGO:0007155 cell adhesion IGI
 biological_processGO:0007254 JNK cascade IDA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007517 muscle organ development IEA
 biological_processGO:0007519 skeletal muscle tissue development IMP
 biological_processGO:0007520 myoblast fusion IMP
 biological_processGO:0030838 positive regulation of actin filament polymerization IGI
 biological_processGO:0032836 glomerular basement membrane development IEA
 biological_processGO:0035418 protein localization to synapse IEA
 biological_processGO:0044062 regulation of excretion IMP
 biological_processGO:0072015 glomerular visceral epithelial cell development IEA
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane TAS
 cellular_componentGO:0036057 slit diaphragm ISS
 cellular_componentGO:0042995 cell projection IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0017022 myosin binding IEA


Pathways (from Reactome)
Pathway description
Nephrin family interactions


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000522 cysts in kidney cortex "abnormal membranous sacs appearing in the renal lobules, tubules and glomeruli" [J:50844]
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Allelic Composition: Cdkn1btm3Jro/Cdkn1b+
Genetic Background: involves: 129S4/SvJaeSor

 MP:0001785 edema "an accumulation of an excessive amount of watery fluid in cells or intercellular tissues" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54065]
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Allelic Composition: Cdkn1btm3Jro/Cdkn1b+
Genetic Background: involves: 129S4/SvJaeSor

 MP:0002135 abnormal kidney morphology "abnormal development of the kidney resulting in structural abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Hprtb-m3/Y,Impdh2tm1Bmi/Impdh2+
Genetic Background: involves: 129P2/OlaHsd

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Zap70m3Btlr/Zap70m3Btlr
Genetic Background: C57BL/6J-Zap70m3Btlr

 MP:0002705 dilated renal tubules "enlarged lumens of the loops of Henle and/or collecting ducts of the kidney" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Hprtb-m3/Y,Impdh2tm1Bmi/Impdh2+
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Nphs1tm1Rkl/Nphs1tm1Rkl
Genetic Background: involves: 129S2/SvPasCrl

 MP:0002871 albuminuria "presence of excess albumin in the urine" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Cdkn1btm3Jro/Cdkn1b+
Genetic Background: involves: 129S4/SvJaeSor

 MP:0002962 increased protein excretion "greater than the normal amount of serum proteins voided by the kidneys" [RGD:Rat Genome Database submission]
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Allelic Composition: Hprtb-m3/Y,Impdh2tm1Bmi/Impdh2+
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Nphs1tm1Rkl/Nphs1tm1Rkl
Genetic Background: involves: 129S2/SvPasCrl

Allelic Composition: Nphs1tm1Ktry/Nphs1tm1Ktry
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0003068 enlarged kidney "larger than average size of the kidney" [J:86005, pvb:Pierre Vanden Borre, Mouse Genome Informatics Curator]
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Allelic Composition: Nphs1tm1Ktry/Nphs1tm1Ktry
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0003670 dilated glomerular capsule "an expansion in volume of the expanded beginning of a nephron that contains the glomerulus" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:91499]
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Allelic Composition: Hprtb-m3/Y,Impdh2tm1Bmi/Impdh2+
Genetic Background: involves: 129P2/OlaHsd

 MP:0003917 increased kidney weight "greater heft of the organs responsible for urine secretion" [RGD:Rat Genome Database submission]
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Allelic Composition: Nphs1tm1Ktry/Nphs1tm1Ktry
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0005325 abnormal glomerulus "anomalous structure of the capillary loops of the kidney that normally function as a filtration unit" [J:57971, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Hprtb-m3/Y,Impdh2tm1Bmi/Impdh2+
Genetic Background: involves: 129P2/OlaHsd

 MP:0008059 abnormal podocyte foot process morphology "any structural anomaly of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Hprtb-m3/Y,Impdh2tm1Bmi/Impdh2+
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Nphs1tm1Ktry/Nphs1tm1Ktry
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0008061 absent podocyte slit diaphragm "absence of the thin membrane that covers the podocyte filtration slit which allows small molecules such as water, glucose, and ionic salts to pass through while retaining larger macromolecules in the bloodstream" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Hprtb-m3/Y,Impdh2tm1Bmi/Impdh2+
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Nphs1tm1Rkl/Nphs1tm1Rkl
Genetic Background: involves: 129S2/SvPasCrl

Allelic Composition: Nphs1tm1Ktry/Nphs1tm1Ktry
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0008062 abnormal podocyte slit junction morphology "any structural anomaly in the gaps between the interdigitated foot processes of the podocyte" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Hprtb-m3/Y,Impdh2tm1Bmi/Impdh2+
Genetic Background: involves: 129P2/OlaHsd

 MP:0008139 fused podocyte foot processes "coalescence of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries " [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Hprtb-m3/Y,Impdh2tm1Bmi/Impdh2+
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Nphs1Gt(pT1Betageo)1Ruiz/Nphs1+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0008140 podocyte foot process effacement "thinning of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Nphs1tm1Ktry/Nphs1tm1Ktry
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0009050 dilated proximal convoluted tubules "stretched or widened aperture of the luminal space of the convoluted portion of the duct system of the nephron that extends from the renal glomerular capsule in the kidney cortex into the kidney medulla where it joins the loop of Henle" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Nphs1tm1Ktry/Nphs1tm1Ktry
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0009051 dilated distal convoluted tubules "stretched or widened aperture of the luminal space of the convoluted portion of the duct system of the nephron between the ascending portion of the loop of Henle and the collecting duct system in the kidney cortex" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Nphs1tm1Ktry/Nphs1tm1Ktry
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0011085 complete postnatal lethality "premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Hprtb-m3/Y,Impdh2tm1Bmi/Impdh2+
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Nphs1tm1Rkl/Nphs1tm1Rkl
Genetic Background: involves: 129S2/SvPasCrl

 MP:0011088 partial neonatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the neonatal period after birth (Mus: P0)" [MGI:csmith]
Show

Allelic Composition: Hprtb-m3/Y,Impdh2tm1Bmi/Impdh2+
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Nphs1tm1Ktry/Nphs1tm1Ktry
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0011307 kidney medulla cysts "abnormal membranous sacs appearing in the inner portion of the kidney which consists of the renal pyramids" [MGI:anna]
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Allelic Composition: Nphs1tm1Ktry/Nphs1tm1Ktry
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0011353 expanded mesangial matrix "increase in the amount of mesangial matrix present in the basement membrane surrounding the glomerular capillaries that also contain the intraglomerular mesangial cells" [MGI:csmith]
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Allelic Composition: Hprtb-m3/Y,Impdh2tm1Bmi/Impdh2+
Genetic Background: involves: 129P2/OlaHsd

 MP:0011377 renal glomerulus fibrosis "formation of fibrous tissue in the renal glomerulus as a result of repair or a reactive process" [MGI:anna]
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Allelic Composition: Hprtb-m3/Y,Impdh2tm1Bmi/Impdh2+
Genetic Background: involves: 129P2/OlaHsd

 MP:0011427 mesangial cell hyperplasia "increased number of the phagocytic cells in the capillary tuft of the renal glomerulus, interposed between endothelial cells and the basement membrane in the central or stalk region of the tuft" [MGI:anna]
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Allelic Composition: Nphs1tm1Ktry/Nphs1tm1Ktry
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0011501 increased glomerular capsule space "increased volume of the luminal region between the glomerular capsule visceral and parietal layers, into which filtrate enters after passing through the filtration barrier from the glomerular capillaries" [MGI:csmith]
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Allelic Composition: Nphs1tm1Rkl/Nphs1tm1Rkl
Genetic Background: involves: 129S2/SvPasCrl

Allelic Composition: Nphs1tm1Ktry/Nphs1tm1Ktry
Genetic Background: involves: 129X1/SvJ * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000030536 Iqgap1 / Q9JKF1 / Ras GTPase-activating-like protein IQGAP1 / P46940* / IQ motif containing GTPase activating protein 1*  / complex / reaction
 ENSMUSG00000006649 Nphs1 / Q9QZS7 / Nephrin / O60500* / NPHS1, nephrin*  / complex / reaction
 ENSMUSG00000061665 Cd2ap / Q9JLQ0 / CD2-associated protein / Q9Y5K6*  / complex / reaction
 ENSMUSG00000019843 Fyn / P39688 / Tyrosine-protein kinase Fyn / P06241* / FYN proto-oncogene, Src family tyrosine kinase*  / reaction / complex
 ENSMUSG00000041734 Q80W68 / Kirrel / Kin of IRRE-like protein 1 / Q96J84* / KIRREL1* / kirre like nephrin family adhesion molecule 1*  / complex / reaction
 ENSMUSG00000026602 Nphs2 / Q91X05 / Podocin / Q9NP85* / NPHS2, podocin*  / reaction / complex
 ENSMUSG00000029684 Wasl / Q91YD9 / Wiskott-Aldrich syndrome-like (human) / O00401* / Wiskott-Aldrich syndrome like*  / reaction / complex
 ENSMUSG00000032036 Q8BR86 / Kirrel3 / Kin of IRRE-like protein 3 Processed kin of IRRE-like protein 3 / Q8IZU9* / kirre like nephrin family adhesion molecule 3*  / complex / reaction
 ENSMUSG00000036915 Q7TSU7 / Kirrel2 / Kin of IRRE-like protein 2 / Q6UWL6* / kirre like nephrin family adhesion molecule 2*  / reaction / complex
 ENSMUSG00000066877 Nck2 / O55033 / Cytoplasmic protein NCK2 / O43639* / NCK adaptor protein 2*  / reaction / complex
 ENSMUSG00000032475 Nck1 / Q99M51 / Cytoplasmic protein NCK1 / P16333* / NCK adaptor protein 1*  / reaction / complex






 

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