BCAP31 - B cell receptor associated protein 31 Gene
Also Known as CDM; DDCH; BAP31; 6C6-AG; DXS1357E
Species: Homo sapiens
About BCAP31
This gene has 14 transcripts (splice variants), 186 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in fat (RPKM 94.9), adrenal (RPKM 52.3) and 25 other tissues.
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]
BCAP31 Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_001139441.1 | NP_001132913.1 | B-cell receptor-associated protein 31 isoform b |
| NM_001139457.2 | NP_001132929.1 | B-cell receptor-associated protein 31 isoform a |
| NM_001256447.2 | NP_001243376.1 | B-cell receptor-associated protein 31 isoform b |
| NM_005745.8 | NP_005736.3 | B-cell receptor-associated protein 31 isoform b |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
9334338 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in positive regulation of ERAD pathway |
IGI
IGI: Inferred from genetic interaction
|
18555783 | GOA |
| involved in positive regulation of intrinsic apoptotic signaling pathway |
IMP
IMP: Inferred from mutant phenotype
|
21183955 | GOA |
| involved in positive regulation of retrograde protein transport, ER to cytosol |
IDA
IDA: Inferred from direct assay
|
18555783 | GOA |
| involved in positive regulation of ubiquitin-dependent protein catabolic process |
IDA
IDA: Inferred from direct assay
|
18555783 | GOA |
| involved in protein targeting to mitochondrion |
IGI
IGI: Inferred from genetic interaction
|
31206022 | GOA |
| involved in response to endoplasmic reticulum stress |
IDA
IDA: Inferred from direct assay
|
31206022 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in endoplasmic reticulum |
IDA
IDA: Inferred from direct assay
|
18555783 | GOA |
| located in lipid droplet |
IDA
IDA: Inferred from direct assay
|
14741744 | GOA |
| located in mitochondria-associated endoplasmic reticulum membrane contact site |
IDA
IDA: Inferred from direct assay
|
31206022 | GOA |
| located in perinuclear endoplasmic reticulum |
IDA
IDA: Inferred from direct assay
|
25854864 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
8706661 | GOA |
BCAP31 Protein Structure
Bap31: B-cell receptor-associated protein 31-like (1 - 224)
- 0
- 100
- 200
- 246 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
B-cell receptor-associated protein 31 |
|
BCAP31 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Cross
|
BCAP31 | P51572 | SH (1A) | Human respiratory syncytial virus A | Q77YB1 | 25854864 | |
|
Intra
|
BCAP31 | P51572 | SEC61B | Homo sapiens | P60468 | 18555783 | |
|
Intra
|
BCAP31 | P51572 | SEC61B | Homo sapiens | P60468 | 18555783 | |
|
Intra
|
BCAP31 | P51572 | TRAM1 | Homo sapiens | Q15629 | 18555783 | |
|
Intra
|
BCAP31 | P51572 | TRAM1 | Homo sapiens | Q15629 | 18555783 | |
|
Intra
|
BCAP31 | P51572 | KLK6 | Homo sapiens | Q92876 | 32814053 | |
|
Intra
|
BCAP31 | P51572 | KLK6 | Homo sapiens | Q92876 | 32814053 | |
|
Intra
|
BCAP31 | P51572 | KLK6 | Homo sapiens | Q92876 | 32814053 | |
|
Intra
|
BCAP31 | P51572 | BCAP29 | Homo sapiens | Q9UHQ4 | 35271311 | |
|
Intra
|
BCAP31 | P51572 | BCAP29 | Homo sapiens | Q9UHQ4 | 30021884 | |
|
Intra
|
BCAP31 | P51572 | BCAP29 | Homo sapiens | Q9UHQ4 | 33961781 | |
|
Intra
|
BCAP31 | P51572 | FIS1 | Homo sapiens | Q9Y3D6 | 21183955 | |
|
Intra
|
BCAP31 | P51572 | FIS1 | Homo sapiens | Q9Y3D6 | 21183955 | |
|
Intra
|
BCAP31 | P51572 | CFTR | Homo sapiens | P13569 | 18555783 | |
|
Intra
|
BCAP31 | P51572 | DERL1 | Homo sapiens | Q9BUN8 | 18555783 | |
|
Intra
|
BCAP31 | P51572 | HACD2 | Homo sapiens | Q6Y1H2 | 15024066 | |
|
Intra
|
BCAP31 | P51572 | TIMMDC1 | Homo sapiens | Q9NPL8 | 32296183 | |
|
Intra
|
BCAP31 | P51572 | TIMMDC1 | Homo sapiens | Q9NPL8 | 32296183 | |
|
Intra
|
BCAP31 | P51572 | TIMMDC1 | Homo sapiens | Q9NPL8 | 32296183 |
BCAP31 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P81575 | BAP31 Antibody (YA1320) | WB, IHC-P, IHC-F, IF-Tissue, FC, ICC/IF | Human, Mouse |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Deafness, Dystonia, And Cerebral Hypomyelination |
|
|
| Adrenoleukodystrophy |
|
|
| Dystonia |
|
|
| Cerebral Creatine Deficiency Syndrome 1 |
|
|
| Cerebral Creatine Deficiency Syndrome |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | BCAP31 | VGNC | VGNC:60079 |
| Rattus norvegicus | BCAP31 | RGD | RGD:1302944 |
| Macaca mulatta | BCAP31 | VGNC | VGNC:70084 |
| Bos taurus | BCAP31 | VGNC | VGNC:26436 |
| Mus musculus | BCAP31 | MGD | MGI:1350933 |
| Canis familiaris | BCAP31 | VGNC | VGNC:38397 |
| Others | BCAP31 | NCBI |