H
IPR036372

BEACH domain superfamily

InterPro entry
Short nameBEACH_dom_sf
Overlapping entries
 
BEACH domain (IPR000409)

Description

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

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

References

1.The role of BEACH proteins in Dictyostelium. De Lozanne A. Traffic 4, 6-12, (2003). View articlePMID: 12535270

2.Identification and characterization of NBEAL1, a novel human neurobeachin-like 1 protein gene from fetal brain, which is up regulated in glioma. Chen J, Lu Y, Xu J, Huang Y, Cheng H, Hu G, Luo C, Lou M, Cao G, Xie Y, Ying K. Brain Res. Mol. Brain Res. 125, 147-55, (2004). View articlePMID: 15193433

3.Neurobeachin: A protein kinase A-anchoring, beige/Chediak-higashi protein homolog implicated in neuronal membrane traffic. Wang X, Herberg FW, Laue MM, Wullner C, Hu B, Petrasch-Parwez E, Kilimann MW. J. Neurosci. 20, 8551-65, (2000). PMID: 11102458

4.Chediak-Higashi syndrome: a clinical and molecular view of a rare lysosomal storage disorder. Ward DM, Shiflett SL, Kaplan J. Curr. Mol. Med. 2, 469-77, (2002). View articlePMID: 12125812

5.Expression profile of mouse BWF1, a protein with a BEACH domain, WD40 domain and FYVE domain. Chen GY, Muramatsu H, Ichihara-Tanaka K, Muramatsu T. Cell Struct. Funct. 29, 35-42, (2004). View articlePMID: 15342963

6.BEACH family of proteins: phylogenetic and functional analysis of six Dictyostelium BEACH proteins. Wang N, Wu WI, De Lozanne A. J. Cell. Biochem. 86, 561-70, (2002). View articlePMID: 12210762

7.Bchs, a BEACH domain protein, antagonizes Rab11 in synapse morphogenesis and other developmental events. Khodosh R, Augsburger A, Schwarz TL, Garrity PA. Development 133, 4655-65, (2006). View articlePMID: 17079274

8.Structure-function analysis of the BEACH protein LvsA. Wu WI, Yajnik J, Siano M, De Lozanne A. Traffic 5, 346-55, (2004). View articlePMID: 15086784

Cross References

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