ENSG00000161270


Homo sapiens

Features
Gene ID: ENSG00000161270
  
Biological name :NPHS1
  
Synonyms : NPHS1 / NPHS1, nephrin / O60500
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: -1
Band: q13.12
Gene start: 35825964
Gene end: 35869287
  
Corresponding Affymetrix probe sets: 207673_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000368190
Ensembl peptide - ENSP00000343634
NCBI entrez gene - 4868     See in Manteia.
OMIM - 602716
RefSeq - NM_004646
RefSeq Peptide - NP_004637
swissprot - O60500
Ensembl - ENSG00000161270
  
Related genetic diseases (OMIM): 256300 - Nephrotic syndrome, type 1, 256300
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 nphs1ENSDARG00000060758Danio rerio
 Nphs1ENSMUSG00000006649Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q8IZU9 / KIRREL3 / kirre like nephrin family adhesion molecule 3ENSG0000014957114
Q6UWL6 / KIRREL2 / kirre like nephrin family adhesion molecule 2ENSG0000012625914
Q96J84 / KIRREL1 / kirre like nephrin family adhesion molecule 1ENSG0000018385314


Protein motifs (from Interpro)
Interpro ID Name
 IPR003598  Immunoglobulin subtype 2
 IPR003599  Immunoglobulin subtype
 IPR003961  Fibronectin type III
 IPR007110  Immunoglobulin-like domain
 IPR013106  Immunoglobulin V-set 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 IEA
 biological_processGO:0007155 cell adhesion TAS
 biological_processGO:0007254 JNK cascade IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007411 axon guidance TAS
 biological_processGO:0007517 muscle organ development IEA
 biological_processGO:0007519 skeletal muscle tissue development IEA
 biological_processGO:0007520 myoblast fusion IEA
 biological_processGO:0007588 excretion TAS
 biological_processGO:0030838 positive regulation of actin filament polymerization IEA
 biological_processGO:0031295 T cell costimulation TAS
 biological_processGO:0032836 glomerular basement membrane development IEP
 biological_processGO:0035418 protein localization to synapse IGI
 biological_processGO:0044062 regulation of excretion IEA
 biological_processGO:0072015 glomerular visceral epithelial cell development IEP
 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 IEA
 cellular_componentGO:0036057 slit diaphragm ISS
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0017022 myosin binding IPI


Pathways (from Reactome)
Pathway description
Nephrin family interactions


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000083 Renal failure 
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 HP:0000091 Abnormality of the renal tubules 
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 HP:0000092 Tubular atrophy 
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 HP:0000093 Proteinuria 
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 HP:0000100 Nephrotic syndrome 
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 HP:0000696 Delayed eruption of secondary teeth 
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 HP:0000821 Hypothyroidism 
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 HP:0000969 Edema "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability." [HPO:curators]
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 HP:0001510 Growth retardation 
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 HP:0001518 Low birth weight 
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 HP:0001967 Diffuse mesangial sclerosis 
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 HP:0002020 Gastroesophageal reflux 
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 HP:0002021 Pyloric stenosis 
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 HP:0002643 Neonatal respiratory distress 
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 HP:0002719 Recurrent infections 
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 HP:0003073 Hypoalbuminemia "Reduction in the concentration of albumin in the blood." [HPO:curators]
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 HP:0003075 Hypoproteinemia 
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 HP:0003077 Hyperlipidemia 
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 HP:0003270 Abdominal distention "Enlargement or distention of the abdomen, which can be a secondary feature associated with a number of conditions such as bowel obstruction." [HPO:curators]
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 HP:0003577 Onset at birth 
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 HP:0003678 Rapidly progressive 
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 HP:0004639 Elevated amniotic fluid alpha-fetoprotein "An elevation of alpha-feto protein measured in the amniotic fluid." [HPO:curators]
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 HP:0008677 Congenital nephrosis 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000010810 FYN / P06241 / FYN proto-oncogene, Src family tyrosine kinase  / complex / reaction
 ENSG00000106299 WASL / O00401 / Wiskott-Aldrich syndrome like  / reaction / complex
 ENSG00000071051 NCK2 / O43639 / NCK adaptor protein 2  / complex / reaction
 ENSG00000105647 O00459 / PIK3R2 / phosphoinositide-3-kinase regulatory subunit 2  / reaction / complex
 ENSG00000248746 ACTN3 / Q08043 / actinin alpha 3 (gene/pseudogene)  / complex / reaction
 ENSG00000183853 Q96J84 / KIRREL1 / kirre like nephrin family adhesion molecule 1  / reaction / complex
 ENSG00000197694 Q13813 / SPTAN1 / spectrin alpha, non-erythrocytic 1  / complex / reaction
 ENSG00000051382 P42338 / PIK3CB / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta  / reaction / complex
 ENSG00000121879 P42336 / PIK3CA / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha  / complex / reaction
 ENSG00000147044 CASK / O14936 / calcium/calmodulin dependent serine protein kinase  / reaction / complex
 ENSG00000158092 NCK1 / P16333 / NCK adaptor protein 1  / complex / reaction
 ENSG00000115306 Q01082 / SPTBN1 / spectrin beta, non-erythrocytic 1  / complex / reaction
 ENSG00000072110 ACTN1 / P12814 / actinin alpha 1  / reaction / complex
 ENSG00000187391 MAGI2 / Q86UL8 / membrane associated guanylate kinase, WW and PDZ domain containing 2  / reaction / complex
 ENSG00000077522 ACTN2 / P35609 / actinin alpha 2  / reaction / complex
 ENSG00000140575 IQGAP1 / P46940 / IQ motif containing GTPase activating protein 1  / reaction / complex
 ENSG00000145675 P27986 / PIK3R1 / phosphoinositide-3-kinase regulatory subunit 1  / reaction / complex
 ENSG00000149571 Q8IZU9 / KIRREL3 / kirre like nephrin family adhesion molecule 3  / complex / reaction
 ENSG00000161270 NPHS1 / O60500 / NPHS1, nephrin  / complex / reaction
 ENSG00000130402 ACTN4 / O43707 / actinin alpha 4  / complex / reaction
 ENSG00000126259 Q6UWL6 / KIRREL2 / kirre like nephrin family adhesion molecule 2  / reaction / complex
 ENSG00000198087 CD2AP / Q9Y5K6 / CD2 associated protein  / complex / reaction
 ENSG00000116218 NPHS2 / Q9NP85 / NPHS2, podocin  / complex / reaction






 

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