Version 5.4
Bos taurus Gene: NPHP1
Summary
InnateDB Gene IDBG-629033.2
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NPHP1
Gene Name nephrocystin-1
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000007675
Encoded Proteins
IDBP-680437
nephrocystin-1
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 11:1670784-1735642
Strand Forward strand
Band
Transcripts
ENSBTAT00000010098 ENSBTAP00000010098
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 52 interaction(s) predicted by orthology.
Predicted by orthology
Total 52 [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:0005911 cell-cell junction
GO:0031514 motile cilium
GO:0032391 photoreceptor connecting cilium
GO:0035869 ciliary transition zone
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
ENSG00000144061
View Gene Order
ENSMUSG00000027378
View Gene Order
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Bt.26203 Bt.61790
RefSeq NM_001105332 XM_005212296 XM_005212298
HUGO
OMIM
CCDS
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca