lysosomal-trafficking regulator; Beige homolog (LYST, CHS, CHS1)

Function

• sorting endosomal resident proteins into late multivesicular endosomes by a mechanism involving microtubules
• interacts with CENPJ, LIP8 & ZNF521
• phosphorylated on Ser

Structure

• contains 1 BEACH domain
• contains 7 WD repeats

Compartment

cytoplasm (putative)

Alternative splicing

• named isoforms=3
• additional isoforms seem to exist
• at least one isofrom may be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay

Expression

• expressed in adult & fetal thymus, peripheral blood leukocytes, bone marrow, several regions of adult brain

Pathology

• defects associated with Chediak-Higashi syndrome

More general terms

• WD repeat protein family
• phosphoprotein
• human longevity protein

Additional terms

• Chediak-Higashi syndrome
• protein neurobeachin; lysosomal-trafficking regulator 2; protein; BCL8 (NBEA, BCL8B, KIAA1544, LYST2)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1130
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1130
• OMIM: https://mirror.omim.org/entry/214500
• OMIM: https://mirror.omim.org/entry/606897
• UniProt: http://www.uniprot.org/uniprot/Q99698.html