InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Gene: Nphs1

Summary

InnateDB Gene

IDBG-169263.6

Last Modified

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

Gene Symbol

Nphs1

Gene Name

nephrosis 1 homolog, nephrin (human)

Synonyms

nephrin; NephrinB

Species

Mus musculus

Ensembl Gene

ENSMUSG00000006649

Encoded Proteins

IDBP-169265

nephrosis 1 homolog, nephrin (human)

IDBP-537579

nephrosis 1 homolog, nephrin (human)

IDBP-532579

nephrosis 1 homolog, nephrin (human)

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000161270:
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 7:30458315-30487223

Strand

Forward strand

Band

Transcripts

ENSMUST00000006825	ENSMUSP00000006825
ENSMUST00000126297	ENSMUSP00000116500
ENSMUST00000123880
ENSMUST00000149086	ENSMUSP00000119601
ENSMUST00000131004

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 13 interaction(s) predicted by orthology.

Experimentally validated
Total	5 [view]
Protein-Protein	5 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	13 [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: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:0016021	integral component of membrane
GO:0036057	slit diaphragm
GO:0042995	cell projection
GO:0043234	protein complex
GO:0045121	membrane raft
GO:0070062	extracellular vesicular exosome

Orthologs

Species

Homo sapiens

Bos taurus

Gene ID

Gene Order

ENSG00000161270

View Gene Order

ENSBTAG00000007821

Not yet available

Pathways

NETPATH

REACTOME

REACT_257032

Nephrin interactions pathway

REACT_223082

Cell-Cell communication pathway

KEGG

INOH

PID NCI

Pathway Predictions based on Human Orthology Data

NETPATH

REACTOME

KEGG

INOH

PID NCI

nephrin_neph1_pathway

Nephrin/Neph1 signaling in the kidney podocyte

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Mm.437830

RefSeq

NM_019459 XM_006540214

OMIM

CCDS

CCDS39884

HPRD

IMGT

MGI ID

MGI Symbol

EMBL

GenPept

RNA Seq Atlas