InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: BCAP31

Summary

InnateDB Protein

IDBP-89836.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

BCAP31

Protein Name

B-cell receptor-associated protein 31

Synonyms

6C6-AG; BAP31; CDM; DDCH; DXS1357E;

Species

Homo sapiens

Ensembl Protein

ENSP00000343458

InnateDB Gene

IDBG-89834 (BCAP31)

Protein Structure

UniProt Annotation

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:0000269PubMed:10958671, ECO:0000269PubMed:18287538, ECO:0000269PubMed:9396746}.

Subcellular Localization

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.

Disease Associations

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:0000269PubMed:24011989}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=BCAP31 is deleted in the chromosome Xq28 deletion syndrome which involves BCAP31 and the and the promoter region of ABCD1. {ECO:0000269PubMed:11992258}.

Tissue Specificity

Ubiquitous. Highly expressed in neurons and discrete endocrine cells. {ECO:0000269PubMed:11561007}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 63 experimentally validated interaction(s) in this database.

Experimentally validated
Total	63 [view]
Protein-Protein	63 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0002474	antigen processing and presentation of peptide antigen via MHC class I
GO:0006886	intracellular protein transport
GO:0006915	apoptotic process
GO:0006921	cellular component disassembly involved in execution phase of apoptosis
GO:0007204	positive regulation of cytosolic calcium ion concentration
GO:0016192	vesicle-mediated transport
GO:0032471	negative regulation of endoplasmic reticulum calcium ion concentration
GO:0035584	calcium-mediated signaling using intracellular calcium source
GO:0043280	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0051561	positive regulation of mitochondrial calcium ion concentration
GO:2001244	positive regulation of intrinsic apoptotic signaling pathway

Cellular Component

GO:0005783	endoplasmic reticulum
GO:0005789	endoplasmic reticulum membrane
GO:0005811	lipid particle
GO:0005829	cytosol
GO:0005887	integral component of plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane