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
nephronophthisis 1 (juvenile)
nephronophthisis 1 (juvenile)
nephronophthisis 1 (juvenile)
nephronophthisis 1 (juvenile)
nephronophthisis 1 (juvenile)
nephronophthisis 1 (juvenile)
nephronophthisis 1 (juvenile)
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
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene 4867
UniGene Hs.280388
RefSeq NM_000272 NM_001128178 NM_207181 NM_001128179 XM_006712552 XM_005263679 XM_005263677 XM_005263676
HUGO HGNC:7905
OMIM 607100
CCDS CCDS2086 CCDS46386 CCDS46385 CCDS46384
HPRD 09524
IMGT
EMBL
GenPept
RNA Seq Atlas 4867