InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Gene: Nphp1

Summary

InnateDB Gene

IDBG-205088.6

Last Modified

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

Gene Symbol

Nphp1

Gene Name

nephronophthisis 1 (juvenile) homolog (human)

Synonyms

Species

Mus musculus

Ensembl Gene

ENSMUSG00000027378

Encoded Proteins

IDBP-205090

nephronophthisis 1 (juvenile) homolog (human)

IDBP-260433

nephronophthisis 1 (juvenile) homolog (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 ENSG00000144061:
This gene encodes a protein with src homology domain 3 (SH3) patterns. This protein interacts with Crk-associated substrate, and it appears to function in the control of cell division, as well as in cell-cell and cell-matrix adhesion signaling, likely as part of a multifunctional complex localized in actin- and microtubule-based structures. Mutations in this gene cause familial juvenile nephronophthisis type 1, a kidney disorder involving both tubules and glomeruli. Defects in this gene are also associated with Senior-Loken syndrome type 1, also referred to as juvenile nephronophthisis with Leber amaurosis, which is characterized by kidney and eye disease, and with Joubert syndrome type 4, which is characterized by cerebellar ataxia, oculomotor apraxia, psychomotor delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 2:127740732-127788897

Strand

Reverse strand

Band

Transcripts

ENSMUST00000028857	ENSMUSP00000028857
ENSMUST00000110357	ENSMUSP00000105986
ENSMUST00000144938
ENSMUST00000148033

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 63 experimentally validated interaction(s) in this database.
They are also associated with 17 interaction(s) predicted by orthology.

Experimentally validated
Total	63 [view]
Protein-Protein	63 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	17 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0030030	cell projection organization
GO:0034613	cellular protein localization
GO:0035845	photoreceptor cell outer segment organization
GO:0048515	spermatid differentiation
GO:0060041	retina development in camera-type eye

Cellular Component

GO:0005737	cytoplasm
GO:0005856	cytoskeleton
GO:0005911	cell-cell junction
GO:0005912	adherens junction
GO:0005923	tight junction
GO:0031514	motile cilium
GO:0032391	photoreceptor connecting cilium
GO:0035869	ciliary transition zone

Orthologs

Species

Homo sapiens

Bos taurus

Gene ID

Gene Order

ENSG00000144061

View Gene Order

ENSBTAG00000007675

Not yet available

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Mm.210766 Mm.485832

RefSeq

NM_001291012 NM_001291013 NM_016902 XM_006499903 XM_006499904

OMIM

CCDS

CCDS16709 CCDS71140

HPRD

IMGT

MGI ID

MGI Symbol

EMBL

GenPept

RNA Seq Atlas