BCAP31, BAP31, DXS1357E, B-cell receptor-associated protein 31, BCR-associated protein 31, Bap31, 6C6-AG tumor-associated antigen, Protein CDM, p28
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],disease:Microdeletions in BCAP31 are involved in the contiguous ABCD1/DXS1375E deletion syndrome (CADDS) [MIM:300475]. Patients manifest profound neonatal hypotonia, subsequent failure to thrive, and cholestatic liver disease.,function:May play a role in anterograde transport of membrane proteins from the endoplasmic reticulum to the Golgi. May be involved in CASP8-mediated apoptosis.,PTM:Cleaved by CASP8 and other caspases.,similarity:Belongs to the BCAP29/BCAP31 family.,subcellular location:May shuttle between the ER and the intermediate compartment/cis-Golgi complex.,subunit: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.,tissue specificity:Ubiquitous.,
