Domain

Nephrocystin-1, SH3 domain (IPR030642)

Short name: NPHP1_SH3

Domain relationships

  • SH3 domain (IPR001452)
    • Nephrocystin-1, SH3 domain (IPR030642)

Description

Nephronophthisis (NPHP) is a hereditary cystic kidney disorder that causes renal failure in children and young adults and can be associated with various extrarenal disorders, including retinitis pigmentosa. Six NPHP genes have been identified, one of which, Nephrocystin-1 (NPHP1), is localised to the ciliary transition zone of epithelial cells or its analogous structure, connecting cilia of retinal photoreceptors [PMID: 16885411]. It also plays an essential role in photoreceptor intraflagellar transport [PMID: 19208653] and in later steps of sperm morphogenesis in mice [PMID: 18684731].

Nephrocystin contains an SH3 domain involved in signaling pathways that regulate cell adhesion and cytoskeletal organization [PMID: 15723349]. SH3 domains are protein interaction domains that bind to proline-rich ligands with moderate affinity and selectivity, preferentially to PxxP motifs.

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
CDD