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nephrocystin-1; Juvenile nephronophthisis 1 protein (NPHP1, NPH1)
Function:
- together with Cas it may play a role in the control of epithelial cell polarity
- seems to help to recruit protein tyrosine kinase-2 beta (PTK2B) to cell matrix adhesions, thereby initiating phosphorylation of PTK2B & PTK2B-dependent signaling
- interacts with Crk-associated substrate (Cas), NPHP4, PTK2B & tensin
- interacts with INVS & NPHP3
Structure:
- the SH3 domain mediates the stable interaction with Cas
- belongs to the nephrocystin-1 family
- contains 1 SH3 domain
Compartment:
- cell junction, adherens junction
- localizes at or near the cell-cell adherens junctions (putative)
Alternative splicing: named isoforms=4
Expression:
- widespread expression
- highest levels in pituitary gland, spinal cord, thyroid gland, testis, skeletal muscle, lymph node & trachea
- weakly expressed in heart, kidney & pancreas
Pathology:
- defects in NPHP1 are the cause of:
a) nephronophthisis type 1
b) Senior-Loken syndrome
c) Joubert syndrome type 4
General
nephrocystin
Properties
SIZE: entity length = 732 aa
MW = 83 kD
MOTIF: coiled coil {3-105}
glutamate-rich region {116-147}
MOTIF: glutamate residue (SEVERAL)
coiled coil {127-150}
src homology 3 [SH3] domain
SITE: 152-212
glutamate-rich region {212-227}
MOTIF: glutamate residue (SEVERAL)
Database Correlations
OMIM correlations
MORBIDMAP 607100
UniProt O15259
Pfam PF00018
Entrez Gene 4867
Kegg hsa:4867
References
- UniProt :accession O15259
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/NPHP1