BCAP31 Antibody – Rabbit Polyclonal

This gene encodes a member of the B-cell receptor associated protein 31 superfamily. The encoded protein is a multi-pass transmembrane protein of the endoplasmic reticulum that is involved in the anterograde transport of membrane proteins from the endoplasmic reticulum to the Golgi and in caspase 8-mediated apoptosis. Microdeletions in this gene are associated with contiguous ABCD1/DXS1375E deletion syndrome (CADDS), a neonatal disorder. Alternative splicing of this gene results in multiple transcript variants. Two related pseudogenes have been identified on chromosome 16. [provided by RefSeq, Jan 2012]

BCAP31 iso2: May play a role in anterograde transport of membrane proteins from the endoplasmic reticulum to the Golgi. May be involved in CASP8-mediated apoptosis. Homodimer and heterodimer with BCAP29. Binds CASP8 (isoform 9) as a complex containing BCAP31, BCAP29, BCL2 and/or BCL2L1. Interacts with VAMP3, VAMP1 and membrane IgD immunoglobulins. May interact with ACTG1 and non-muscle myosin II. Interacts with PTPLB. Ubiquitous. Belongs to the BCAP29/BCAP31 family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: Xq28

Cellular Component: endoplasmic reticulum membrane; ER-Golgi intermediate compartment membrane; clathrin-coated vesicle; membrane; endoplasmic reticulum; integral to plasma membrane; lipid particle; cytosol

Molecular Function: protein binding; MHC class I protein binding; protein complex binding

Biological Process: intracellular protein transport; elevation of cytosolic calcium ion concentration; antigen processing and presentation of peptide antigen via MHC class I; ER to Golgi vesicle-mediated transport; apoptosis; reduction of endoplasmic reticulum calcium ion concentration; positive regulation of caspase activity; spermatogenesis; elevation of mitochondrial calcium ion concentration; cell structure disassembly during apoptosis

Disease: Deafness, Dystonia, And Cerebral Hypomyelination