MitoProteome Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins

MT000754

UniProt Annotations

Entry Information

Gene Name	B-cell receptor-associated protein 31
Protein Entry	BAP31_HUMAN
UniProt ID	P51572
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P51572-1; Sequence=Displayed; Name=2; IsoId=P51572-2; Sequence=VSP_043116; Note=No experimental confirmation available.;
Disease	Deafness, dystonia, and cerebral hypomyelination (DDCH) [MIM:300475]: An X-linked recessive mental retardation syndrome characterized by almost no psychomotor development, dysmorphic facial features, sensorineural deafness, dystonia, pyramidal signs, and hypomyelination on brain imaging. {ECO:0000269\|PubMed:24011989}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Note=BCAP31 is deleted in the chromosome Xq28 deletion syndrome which involves BCAP31 and the and the promoter region of ABCD1. {ECO:0000269\|PubMed:11992258}.
Function	Functions as a chaperone protein. Is one of the most abundant endoplasmic reticulum (ER) proteins. Plays a role in the export of secreted proteins in the ER, the recognition of abnormally folded protein and their targeting to the ER associated-degradation (ERAD). Also serves as a cargo receptor for the export of transmembrane proteins. May be involved in CASP8- mediated apoptosis. {ECO:0000269\|PubMed:10958671, ECO:0000269\|PubMed:18287538, ECO:0000269\|PubMed:9396746}.
Interaction	P10415:BCL2; NbExp=2; IntAct=EBI-77683, EBI-77694; Q14790:CASP8; NbExp=3; IntAct=EBI-77683, EBI-78060; P13569:CFTR; NbExp=3; IntAct=EBI-77683, EBI-349854; Q9BUN8:DERL1; NbExp=3; IntAct=EBI-77683, EBI-398977; Q9Y3D6:FIS1; NbExp=8; IntAct=EBI-77683, EBI-3385283; Q6Y1H2:PTPLB; NbExp=4; IntAct=EBI-77683, EBI-530257; P60468:SEC61B; NbExp=7; IntAct=EBI-77683, EBI-1788819; Q15629:TRAM1; NbExp=5; IntAct=EBI-77683, EBI-1788852;
Ptm	Cleaved by CASP8 and other caspases.
Similarity	Belongs to the BCAP29/BCAP31 family. {ECO:0000305}.
Subcellular Location	Endoplasmic reticulum membrane; Multi-pass membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane; Multi-pass membrane protein. Note=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. {ECO:0000269\|PubMed:11917123, ECO:0000269\|PubMed:15024066, ECO:0000269\|PubMed:23967155, ECO:0000269\|PubMed:9334338}.
Tissue Specificity	Ubiquitous. Highly expressed in neurons and discrete endocrine cells. {ECO:0000269\|PubMed:11561007}.