| Gene Symbol |
NPHP1
|
| Entrez Gene |
4867
|
| Alt Symbol |
JBTS4, NPH1, SLSN1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
nephronophthisis 1 (juvenile)
|
| Other Description |
juvenile nephronophthisis 1 protein|nephrocystin 1|nephrocystin-1
|
| Swissprots |
O14837 O15259
|
| Accessions |
EAW50631 EAW50632 EAW50633 EAW50634 EAW50635 EAW50636 EAW50637 O15259 AF023674 AAC51771 AI433852 AJ001815 CAA05030 AK225600 AK299011 BAG61092 AK307654 BC009789 BC032939 BC062574 AAH62574 BX571745 CAE11870 DB454094 HQ447938 ADQ32422 XM_005263675 XP_005263732 XM_005263676 XP_005263733 XM_005263677 XP_005263734 XM_005263678 XP_005263735 XM_005263679 XP_005263736 XM_006712551 XP_006712614 XM_006712552 XP_006712615 XM_011511244 XP_011509546 NM_000272 NP_000263 NM_001128178 NP_001121650 NM_001128179 NP_001121651 NM_207181 NP_997064
|
| 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 Location |
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}.
|
| 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:0000269|PubMed:16308564}.
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