Homo sapiens Protein: NPHP1 | |||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-65481.7 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | NPHP1 | ||||||||||||||||||||||
Protein Name | nephronophthisis 1 (juvenile) | ||||||||||||||||||||||
Synonyms | JBTS4; NPH1; SLSN1; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000313169 | ||||||||||||||||||||||
InnateDB Gene | IDBG-65479 (NPHP1) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | Together with BCAR1 it may play a role in the control of epithelial cell polarity. Involved in the organization of apical junctions in kidney cells together with NPHP4 and RPGRIP1L/NPHP8 (By similarity). Does not seem to be strictly required for ciliogenesis (By similarity). Seems to help to recruit PTK2B/PYK2 to cell matrix adhesions, thereby initiating phosphorylation of PTK2B/PYK2 and PTK2B/PYK2-dependent signaling. May play a role in the regulation of intraflagellar transport (IFT) during cilia assembly. Required for normal retina development. In connecting photoreceptor cilia influences the movement of some IFT proteins such as IFT88 and WDR19. Involved in spermatogenesis (By similarity). {ECO:0000250}. | ||||||||||||||||||||||
Subcellular Localization | Cell junction, adherens junction {ECO:0000250}. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium axoneme. Cell junction, tight junction. Note=Colocalizes with E-cadherin and BCAR1 at or near the cell-cell adherens junctions (By similarity). Localized to respiratory cilia axoneme. Localized to the transition zone of respiratory cilia, photoreceptor-connecting cilia and renal monocilia. In cultured renal cells, it localizes diffusely in the cytoplasm but, as cells approach confluence, it accumulates to basolateral tight junctions. {ECO:0000250}. | ||||||||||||||||||||||
Disease Associations | Nephronophthisis 1 (NPHP1) [MIM:256100]: An autosomal recessive inherited disease characterized by anemia, polyuria, polydipsia, isosthenuria and death in uremia. Symmetrical destruction of the kidneys involving both tubules and glomeruli occurs. The underlying pathology is a chronic tubulo-interstitial nephropathy with characteristic tubular basement membrane thickening and medullary cyst formation. Associations with extrarenal symptoms, especially ocular lesions, are frequent. The age at death ranges from about 4 to 15 years. {ECO:0000269PubMed:10839884}. Note=The disease is caused by mutations affecting the gene represented in this entry.Senior-Loken syndrome 1 (SLSN1) [MIM:266900]: A renal- retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. {ECO:0000269PubMed:9856524}. Note=The disease is caused by mutations affecting the gene represented in this entry.Joubert syndrome 4 (JBTS4) [MIM:609583]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Joubert syndrome type 4 is a phenotypically mild form. {ECO:0000269PubMed:15138899}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | Widespread expression, with highest levels in pituitary gland, spinal cord, thyroid gland, testis, skeletal muscle, lymph node and trachea. Weakly expressed in heart, kidney and pancreas. Expressed in nasal epithelial cells (at protein level). {ECO:0000269PubMed:16308564}. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
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.
|
||||||||||||||||||||||
Gene Ontology | |||||||||||||||||||||||
Molecular Function |
|
||||||||||||||||||||||
Biological Process |
|
||||||||||||||||||||||
Cellular Component |
|
||||||||||||||||||||||
Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR001452
SH3 domain IPR011511 Variant SH3 domain |
||||||||||||||||||||||
PFAM |
PF00018
PF14604 PF07653 |
||||||||||||||||||||||
PRINTS |
PR00452
|
||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART |
SM00326
|
||||||||||||||||||||||
TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | O15259 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-O15259 | ||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 4867 | ||||||||||||||||||||||
UniGene | Hs.280388 | ||||||||||||||||||||||
RefSeq | NP_000263 | ||||||||||||||||||||||
HUGO | HGNC:7905 | ||||||||||||||||||||||
OMIM | 607100 | ||||||||||||||||||||||
CCDS | CCDS2086 | ||||||||||||||||||||||
HPRD | 09524 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AC013268 AC140479 AF023674 AJ001815 BC009789 BC062574 | ||||||||||||||||||||||
GenPept | AAC51771 AAH62574 CAA05030 | ||||||||||||||||||||||