Version 5.4
Homo sapiens Gene: BCAP31
Summary
InnateDB Gene IDBG-89834.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BCAP31
Gene Name B-cell receptor-associated protein 31
Synonyms 6C6-AG; BAP31; CDM; DDCH; DXS1357E
Species Homo sapiens
Ensembl Gene ENSG00000185825
Encoded Proteins
IDBP-89836
B-cell receptor-associated protein 31
IDBP-382956
B-cell receptor-associated protein 31
IDBP-382961
B-cell receptor-associated protein 31
IDBP-382968
B-cell receptor-associated protein 31
IDBP-382970
B-cell receptor-associated protein 31
IDBP-382971
B-cell receptor-associated protein 31
IDBP-382972
B-cell receptor-associated protein 31
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome X:153700497-153724697
Strand Reverse strand
Band q28
Transcripts
ENST00000345046 ENSP00000343458
ENST00000458587 ENSP00000392330
ENST00000442093 ENSP00000400345
ENST00000429550 ENSP00000409888
ENST00000416815 ENSP00000394270
ENST00000423827 ENSP00000389740
ENST00000430088 ENSP00000402342
ENST00000468947
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
GO:0032403 protein complex binding
GO:0042288 MHC class I protein binding
Biological Process
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I
GO:0006886 intracellular protein transport
GO:0006888 ER to Golgi vesicle-mediated 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:0007283 spermatogenesis
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:0070973 protein localization to endoplasmic reticulum exit site
GO:2001244 positive regulation of intrinsic apoptotic signaling pathway
Cellular Component
GO:0000139 Golgi membrane
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:0030136 clathrin-coated vesicle
GO:0032580 Golgi cisterna membrane
GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane
GO:0071556 integral component of lumenal side of endoplasmic reticulum membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000002015
View Gene Order
ENSBTAG00000020547
Not yet available
Pathways
NETPATH
REACTOME
REACT_75795
Antigen Presentation: Folding, assembly and peptide loading of class I MHC pathway
REACT_107
Apoptotic cleavage of cellular proteins pathway
REACT_995
Apoptotic execution phase pathway
REACT_578
Apoptosis pathway
REACT_75774
Adaptive Immune System pathway
REACT_6900
Immune System pathway
REACT_75820
Class I MHC mediated antigen processing & presentation pathway
KEGG
hsa04141
Protein processing in endoplasmic reticulum pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.522817 Hs.558981
RefSeq NM_001139441 NM_001139457 NM_001256447 NM_005745
HUGO
OMIM
CCDS CCDS14727 CCDS48191
HPRD 02319
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca