Homo sapiens Gene: NPHP1 | |||||||||||||||||||||||
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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 |
nephronophthisis 1 (juvenile)
nephronophthisis 1 (juvenile)
nephronophthisis 1 (juvenile)
nephronophthisis 1 (juvenile)
nephronophthisis 1 (juvenile)
nephronophthisis 1 (juvenile)
nephronophthisis 1 (juvenile)
nephronophthisis 1 (juvenile)
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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] |
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Gene Information | |||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||
Genomic Location | Chromosome 2:110122311-110205066 | ||||||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||||||
Band | q13 | ||||||||||||||||||||||
Transcripts | |||||||||||||||||||||||
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.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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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 | ||||||||||||||||||||||