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- Table of Contents
Facts about Nephrocystin-1.
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.
Human | |
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Gene Name: | NPHP1 |
Uniprot: | O15259 |
Entrez: | 4867 |
Belongs to: |
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nephrocystin-1 family |
FLJ97602; JBTS4NPH1Juvenile nephronophthisis 1 protein; nephrocystin 1; nephrocystin-1; nephronophthisis 1 (juvenile); SLSN1
Mass (kDA):
83.299 kDA
Human | |
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Location: | 2q13 |
Sequence: | 2; NC_000002.12 (110122311..110205013, complement) |
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).
Cell junction. Cell junction, adherens junction. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium axoneme. Cell junction, tight junction. In the retinal photoreceptor cell layer, localizes at the connecting cilium (By similarity). Colocalizes with E-cadherin and BCAR1 at or near the cell-cell adherens junctions (By similarity). Localized to respiratory cilia axoneme (PubMed:16308564, PubMed:16885411). Localized to the transition zone of respiratory cilia (PubMed:16885411). Localized to the transition zone of photoreceptor-connecting cilia and renal monocilia (By similarity). In culture
PMID: 9361039 by Saunier S., et al. A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis.
PMID: 9326933 by Hildebrandt F., et al. A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1.