InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: NPHS1

Summary

InnateDB Gene

IDBG-45496.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NPHS1

Gene Name

nephrosis 1, congenital, Finnish type (nephrin)

Synonyms

CNF; nephrin; NPHN

Species

Homo sapiens

Ensembl Gene

ENSG00000161270

Encoded Proteins

IDBP-45502

nephrosis 1, congenital, Finnish type (nephrin)

IDBP-45504

nephrosis 1, congenital, Finnish type (nephrin)

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 19:35825964-35869287

Strand

Reverse strand

Band

q13.12

Transcripts

ENST00000378910	ENSP00000368190
ENST00000353632	ENSP00000343634
ENST00000592132
ENST00000585400

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 27 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.

Experimentally validated
Total	27 [view]
Protein-Protein	20 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	7 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0017022	myosin binding
GO:0019904	protein domain specific binding
GO:0030507	spectrin binding
GO:0051393	alpha-actinin binding

Biological Process

GO:0000165	MAPK cascade
GO:0007155	cell adhesion
GO:0007254	JNK cascade
GO:0007519	skeletal muscle tissue development
GO:0007520	myoblast fusion
GO:0007588	excretion
GO:0030838	positive regulation of actin filament polymerization
GO:0032836	glomerular basement membrane development
GO:0044062	regulation of excretion
GO:0072015	glomerular visceral epithelial cell development

Cellular Component

GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0016020	membrane
GO:0036057	slit diaphragm
GO:0042995	cell projection
GO:0043234	protein complex
GO:0045121	membrane raft
GO:0070062	extracellular vesicular exosome

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000006649

View Gene Order

ENSBTAG00000007821

Not yet available

Pathways

NETPATH

REACTOME

KEGG

INOH

PID NCI

nephrin_neph1_pathway

Nephrin/Neph1 signaling in the kidney podocyte

Cross-References

SwissProt

O60500

TrEMBL

UniProt Splice Variant

Entrez Gene

4868

UniGene

Hs.122186

RefSeq

NM_004646 XM_005258961

HUGO

HGNC:7908

OMIM

602716

CCDS

CCDS32996

HPRD

04094

IMGT

EMBL

AC002133 AF035835 AF126957 AF190637 EU642886

GenPept

AAC39687 AAF36451 AAG17141 ACH99862

RNA Seq Atlas

4868