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NPHS1 NPHS1 adhesion molecule, nephrin [ Homo sapiens (human) ]

Gene ID: 4868, updated on 25-Mar-2020

Summary

Official Symbol
NPHS1provided by HGNC
Official Full Name
NPHS1 adhesion molecule, nephrinprovided by HGNC
Primary source
HGNC:HGNC:7908
See related
Ensembl:ENSG00000161270 MIM:602716
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CNF; NPHN; nephrin
Summary
This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009]
Expression
Biased expression in kidney (RPKM 12.8), pancreas (RPKM 3.0) and 1 other tissue See more
Orthologs

Genomic context

See NPHS1 in Genome Data Viewer
Location:
19q13.12
Exon count:
29
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (35825372..35851993, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (36316274..36342895, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1529 Neighboring gene proline dehydrogenase 2 Neighboring gene kirre like nephrin family adhesion molecule 2 Neighboring gene uncharacterized LOC107985317 Neighboring gene amyloid beta precursor like protein 1 Neighboring gene RNA, 7SL, cytoplasmic 402, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat rapidly induces the redistribution and loss of nephrin by engaging vascular endothelial growth factor receptors types 2 and 3 and the integrin alphavbeta3 in cultured human podocytes PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
myosin binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
JNK cascade IEA
Inferred from Electronic Annotation
more info
 
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
excretion TAS
Traceable Author Statement
more info
PubMed 
glomerular basement membrane development IEP
Inferred from Expression Pattern
more info
PubMed 
glomerular visceral epithelial cell development IEP
Inferred from Expression Pattern
more info
PubMed 
myoblast fusion IEA
Inferred from Electronic Annotation
more info
 
positive regulation of actin filament polymerization IEA
Inferred from Electronic Annotation
more info
 
protein localization to synapse IGI
Inferred from Genetic Interaction
more info
PubMed 
regulation of excretion IEA
Inferred from Electronic Annotation
more info
 
skeletal muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell projection IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
focal adhesion IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
slit diaphragm ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
nephrin
Names
NPHS1, nephrin
nephrosis 1, congenital, Finnish type (nephrin)
renal glomerulus-specific cell adhesion receptor
truncated NPHS1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_013356.2 RefSeqGene

    Range
    22295..48916
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_693

mRNA and Protein(s)

  1. NM_004646.4NP_004637.1  nephrin precursor

    See identical proteins and their annotated locations for NP_004637.1

    Status: REVIEWED

    Source sequence(s)
    AC002133, U95090
    Consensus CDS
    CCDS32996.1
    UniProtKB/Swiss-Prot
    O60500
    Related
    ENSP00000368190.4, ENST00000378910.9
    Conserved Domains (8) summary
    cd05773
    Location:834942
    Ig8_hNephrin_like; Eighth immunoglobulin-like domain of nephrin
    smart00410
    Location:845935
    IG_like; Immunoglobulin like
    pfam07679
    Location:646736
    I-set; Immunoglobulin I-set domain
    pfam00041
    Location:9421023
    fn3; Fibronectin type III domain
    pfam07686
    Location:38119
    V-set; Immunoglobulin V-set domain
    pfam08205
    Location:141228
    C2-set_2; CD80-like C2-set immunoglobulin domain
    pfam13927
    Location:739820
    Ig_3; Immunoglobulin domain
    cl11960
    Location:345424
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    35825372..35851993 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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