Version 5.4
Homo sapiens Gene: NPHP1
Summary
InnateDB Gene IDBG-65479.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NPHP1
Gene Name nephronophthisis 1 (juvenile)
Synonyms JBTS4; NPH1; SLSN1
Species Homo sapiens
Ensembl Gene ENSG00000144061
Encoded Proteins
IDBP-65481
nephronophthisis 1 (juvenile)
IDBP-65483
nephronophthisis 1 (juvenile)
IDBP-243938
nephronophthisis 1 (juvenile)
IDBP-384501
nephronophthisis 1 (juvenile)
IDBP-384503
nephronophthisis 1 (juvenile)
IDBP-384504
nephronophthisis 1 (juvenile)
IDBP-384506
nephronophthisis 1 (juvenile)
IDBP-384507
nephronophthisis 1 (juvenile)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 2:110122311-110205066
Strand Reverse strand
Band q13
Transcripts
ENST00000316534 ENSP00000313169
ENST00000355301 ENSP00000347452
ENST00000393272 ENSP00000376953
ENST00000445609 ENSP00000389879
ENST00000417665 ENSP00000402176
ENST00000422492 ENSP00000392562
ENST00000418527 ENSP00000412351
ENST00000449600 ENSP00000406453
ENST00000496524
ENST00000461707
ENST00000493051
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 26 experimentally validated interaction(s) in this database.
They are also associated with 43 interaction(s) predicted by orthology.
Experimentally validated
Total 26 [view]
Protein-Protein 26 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 43 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005198 structural molecule activity
GO:0005515 protein binding
Biological Process
GO:0007165 signal transduction
GO:0007588 excretion
GO:0007632 visual behavior
GO:0016337 single organismal cell-cell adhesion
GO:0030030 cell projection organization
GO:0030036 actin cytoskeleton 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:0016020 membrane
GO:0031514 motile cilium
GO:0032391 photoreceptor connecting cilium
GO:0035869 ciliary transition zone
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000027378
View Gene Order
ENSBTAG00000007675
Not yet available
Cross-References
SwissProt O15259
TrEMBL
UniProt Splice Variant
Entrez Gene 4867
UniGene Hs.280388
RefSeq NM_207181 NM_000272 NM_001128178 NM_001128179 XM_005263676 XM_005263677 XM_005263679 XM_006712552
HUGO HGNC:7905
OMIM 607100
CCDS CCDS46385 CCDS2086 CCDS46384 CCDS46386
HPRD 09524
IMGT
EMBL AC013268 AC140479 AF023674 AJ001815 BC009789 BC062574
GenPept AAC51771 AAH62574 CAA05030
RNA Seq Atlas 4867

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