InnateDB Protein
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IDBP-382956.4
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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BCAP31
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Protein Name
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B-cell receptor-associated protein 31
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Synonyms
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6C6-AG; BAP31; CDM; DDCH; DXS1357E;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000392330
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InnateDB Gene
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IDBG-89834 (BCAP31)
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Protein Structure
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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}.
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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.
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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}.
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Tissue Specificity |
Ubiquitous. Highly expressed in neurons and discrete endocrine cells. {ECO:0000269PubMed:11561007}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 63 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
63
[view]
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Protein-Protein |
63
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
GO:0002474
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antigen processing and presentation of peptide antigen via MHC class I
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GO:0006886
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intracellular protein transport
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GO:0006888
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ER to Golgi vesicle-mediated transport
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GO:0006915
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apoptotic process
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GO:0006921
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cellular component disassembly involved in execution phase of apoptosis
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GO:0007204
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positive regulation of cytosolic calcium ion concentration
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GO:0007283
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spermatogenesis
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GO:0016192
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vesicle-mediated transport
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GO:0032471
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negative regulation of endoplasmic reticulum calcium ion concentration
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GO:0035584
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calcium-mediated signaling using intracellular calcium source
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GO:0043280
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positive regulation of cysteine-type endopeptidase activity involved in apoptotic process
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GO:0051561
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positive regulation of mitochondrial calcium ion concentration
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GO:0070973
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protein localization to endoplasmic reticulum exit site
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GO:2001244
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positive regulation of intrinsic apoptotic signaling pathway
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P51572
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PhosphoSite |
PhosphoSite-P51572
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TrEMBL |
C9JSP1
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UniProt Splice Variant |
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Entrez Gene |
10134
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UniGene |
Hs.558981
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RefSeq |
NP_001132929
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HUGO |
HGNC:16695
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OMIM |
300398
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CCDS |
CCDS48191
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HPRD |
02319
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IMGT |
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EMBL |
AK057613
AK125631
BC014323
BC065292
CH471172
U36341
U52111
X81109
X81817
Z31696
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GenPept |
AAA79508
AAH14323
AAH65292
BAG51941
BAG54226
CAA57015
CAA57415
CAA83501
EAW72818
EAW72819
EAW72820
EAW72821
EAW72823
EAW72824
EAW72825
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