NPHS1

GENE INFORMATION

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Gene name

NPHS1 (HGNC Symbol)

Synonyms

CNF, NPHN

Description

Nephrosis 1, congenital, Finnish type (nephrin) (HGNC Symbol)

Entrez gene 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]

Chromosome

19

Cytoband

q13.12

Chromosome location (bp)

36316866 - 36360189

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000161270 (version 75.37)

Entrez gene

4868

UniProt

O60500 (UniProt - Evidence at protein level)

neXtProt

NX_O60500

Antibodypedia

NPHS1 antibodies
 

PROTEIN VIEW

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NPHS1-001
 
NPHS1-002
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

NPHS1-001 ENSP00000368190
ENST00000378910
O60500
Show all »
Show » Show » 1241 134.7 Yes 1
NPHS1-002 ENSP00000343634
ENST00000353632
O60500
Show all »
Show » Show » 1201 130.5 Yes 0