InterPro domain: IPR036372

General Information

  • Identifier IPR036372
  • Description BEACH domain superfamily
  • Number of genes 577
  • Gene duplication stats Loading...

Abstract

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 [ 1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 ].


1. Bchs, a BEACH domain protein, antagonizes Rab11 in synapse morphogenesis and other developmental events. Development 133, 4655-65
2. Structure-function analysis of the BEACH protein LvsA. Traffic 5, 346-55
3. Chediak-Higashi syndrome: a clinical and molecular view of a rare lysosomal storage disorder. Curr. Mol. Med. 2, 469-77
4. Expression profile of mouse BWF1, a protein with a BEACH domain, WD40 domain and FYVE domain. Cell Struct. Funct. 29, 35-42
5. Identification and characterization of NBEAL1, a novel human neurobeachin-like 1 protein gene from fetal brain, which is up regulated in glioma. Brain Res. Mol. Brain Res. 125, 147-55
6. Neurobeachin: A protein kinase A-anchoring, beige/Chediak-higashi protein homolog implicated in neuronal membrane traffic. J. Neurosci. 20, 8551-65
7. The role of BEACH proteins in Dictyostelium. Traffic 4, 6-12
8. BEACH family of proteins: phylogenetic and functional analysis of six Dictyostelium BEACH proteins. J. Cell. Biochem. 86, 561-70

Species distribution

Gene table

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