B-cell receptor-associated protein 31 (BCR-associated protein Bap31, p28 Bap31, protein CDM, 6C6-AG tumor-associated antigen, BCAP31, BAP31, DXS1357E)

Function

• role in anterograde transport of membrane proteins from endoplasmic reticulum to Golgi
• CASP8-mediated apoptosis (putative)
  • Cleaved by CASP8 & other caspases
• homodimer & heterodimer with BCAP29
• binds CASP8 (isoform 9) as a complex containing BCAP31, BCAP29, BCL2 &/or BCL2L1
• interacts with VAMP3, VAMP1 & membrane IgD immunoglobulins
• interact with ACTG1 & non-muscle myosin 2

Compartment

• endoplasmic reticulum-Golg intermediate compartment
• may shuttle between the ER & the intermediate compartment/ cis-Golgi

Expression

ubiquitous

Pathology

• 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

More general terms

• transmembrane 3 protein

Database

• OMIM: https://mirror.omim.org/entry/300398
• OMIM: https://mirror.omim.org/entry/300475
• UniProt: http://www.uniprot.org/uniprot/P51572.html