Beach

Beige/BEACH domain		 Beach
SMART accession number:SM01026
Description: The BEACH domain was described in the BEIGE protein (D1035670) and in the highly homologous CHS protein. The BEACH domain is usually followed by a series of WD repeats. The function of the BEACH domain is unknown.
Interpro abstract (IPR000409):

The BEACH domain is usually followed by a series of WD repeats.

BEACH (Beige and Chediak-Higashi) domains, implicated in membrane trafficking, are present in a family of proteins conserved throughout eukaryotes. This group contains human lysosomal trafficking regulator (LYST), LPS-responsive and beige-like anchor (LRBA) and neurobeachin. Disruption of LYST leads to Chediak-Higashi syndrome, characterized by severe immunodeficiency, albinism, poor blood coagulation and neurologic problems. Neurobeachin is a candidate gene linked to autism. LBRA seems to be upregulated in several cancer types. It has been shown that the BEACH domain itself is important for the function of these proteins [ (PUBMED:17079274) (PUBMED:15086784) (PUBMED:12125812) (PUBMED:15342963) (PUBMED:15193433) (PUBMED:11102458) (PUBMED:12535270) (PUBMED:12210762) ].

Family alignment:
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There are 8132 Beach domains in 8120 proteins in SMART's nrdb database.

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