Reviewed,
UniProtKB/Swiss-Prot P51572 (BAP31_HUMAN)
Last modified
July 7, 2009.
Version 88.
History...
Clusters with 100%,
90%,
50% identity |
Documents (3) |
Third-party data |
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Names and origin
| Protein names | Recommended name: B-cell receptor-associated protein 31 Alternative name(s): BCR-associated protein Bap31 p28 Bap31 Protein CDM 6C6-AG tumor-associated antigen | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Complete proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 246 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | May play a role in anterograde transport of membrane proteins from the endoplasmic reticulum to the Golgi. May be involved in CASP8-mediated apoptosis. Ref.8 Ref.9 |
| Subunit structure | 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. Ref.7 Ref.10 Ref.11 |
| 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. Ref.8 Ref.7 |
| Tissue specificity | Ubiquitous. |
| Post-translational modification | Cleaved by CASP8 and other caspases. |
| Involvement in disease | Microdeletions in BCAP31 are involved in the contiguous ABCD1/DXS1375E deletion syndrome (CADDS) [MIM:300475]. Patients manifest profound neonatal hypotonia, subsequent failure to thrive, and cholestatic liver disease. |
| Sequence similarities | Belongs to the BCAP29/BCAP31 family. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Apoptosis ER-Golgi transport Protein transport Transport |
| Cellular component | Endoplasmic reticulum Membrane |
| Domain | Transmembrane |
| Technical term | Complete proteome Direct protein sequencing |
| Gene Ontology (GO) | |
| Biological process | apoptosis Inferred from electronic annotation. Source: UniProtKB-KW immune responseNon-traceable author statement. Source: UniProtKB intracellular protein transportInferred from electronic annotation. Source: InterPro vesicle-mediated transportInferred from electronic annotation. Source: UniProtKB-KW |
| Cellular component | ER-Golgi intermediate compartment membrane Inferred from electronic annotation. Source: UniProtKB-SubCell endoplasmic reticulum membraneInferred from electronic annotation. Source: UniProtKB-SubCell integral to plasma membrane Ref.2Inferred from direct assay. Source: UniProtKB |
| Molecular function | receptor binding Non-traceable author statement. Source: UniProtKB |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| BCL2 | P10415 | 2 | EBI-77683,EBI-77694 | |
| BCL2L1 | Q07817 | 1 | EBI-77683,EBI-78035 | |
| CASP8 | Q14790 | 1 | EBI-77683,EBI-78060 | |
| CASP8 | Q14790-9 | 1 | EBI-77683,EBI-288343 | |
| CFTR | P13569 | 2 | EBI-77683,EBI-349854 | |
| DERL1 | Q9BUN8 | 1 | EBI-77683,EBI-398977 | |
| PTPLB | Q6Y1H2 | 1 | EBI-77683,EBI-530257 | |
| SEC61B | P60468 | 3 | EBI-77683,EBI-1788819 | |
| TRAM1 | Q15629 | 2 | EBI-77683,EBI-1788852 |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Initiator methionine | 1 | 1 | Removed Ref.7 | ||||||
| Chain | 2 – 246 | 245 | B-cell receptor-associated protein 31 | PRO_0000142891 | |||||
Regions | |||||||||
| Topological domain | 2 – 6 | 5 | Lumenal Potential | ||||||
| Transmembrane | 7 – 27 | 21 | Potential | ||||||
| Topological domain | 28 – 43 | 16 | Cytoplasmic Potential | ||||||
| Transmembrane | 44 – 64 | 21 | Potential | ||||||
| Topological domain | 65 – 102 | 38 | Lumenal Potential | ||||||
| Transmembrane | 103 – 123 | 21 | Potential | ||||||
| Topological domain | 124 – 246 | 123 | Cytoplasmic Potential | ||||||
| Motif | 243 – 246 | 4 | Di-lysine motif | ||||||
Sites | |||||||||
| Site | 164 – 165 | 2 | Cleavage; by caspase-8 Potential | ||||||
| Site | 238 – 239 | 2 | Cleavage; by caspase-8 Potential | ||||||
Experimental info | |||||||||
| Mutagenesis | 164 | 1 | D → A: Abolishes cleavage by caspases, inhibits apoptotic membrane blebbing and release of cytochrome c from mitochondria; when associated with A-238. Ref.9 | ||||||
| Mutagenesis | 238 | 1 | D → A: Abolishes cleavage by caspases, inhibits apoptotic membrane blebbing and release of cytochrome c from mitochondria; when associated with A-164. Ref.9 | ||||||
| Sequence conflict | 2 | 1 | S → T in CAA57415. Ref.3 | ||||||
| Sequence conflict | 72 | 1 | K → E in AAH14323. Ref.5 | ||||||
| Sequence conflict | 208 | 1 | Q → E in CAA57415. Ref.3 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "A new human gene (DXS1357E) with ubiquitous expression, located in Xq28 adjacent to the adrenoleukodystrophy gene." Mosser J., Sarde C.-O., Vicaire S., Yates J.R., Mandel J.-L. Genomics 22:469-471(1994) [PubMed: 7806238] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. |
| [2] | "Molecular cloning and characterization of a transmembrane surface antigen in human cells." Li E., Bestagno M., Burrone O. Eur. J. Biochem. 238:631-638(1996) [PubMed: 8706661] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. |
| [3] | "The specificity of association of the IgD molecule with the accessory proteins BAP31/BAP29 lies in the IgD transmembrane sequence." Adachi T., Schamel W.W.A., Kim K.-M., Watanabe T., Becker B., Nielsen P.J., Reth M. EMBO J. 15:1534-1541(1996) [PubMed: 8612576] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: B-cell and Promyelocytic leukemia. |
| [4] | "The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. Bentley D.R.Nature 434:325-337(2005) [PubMed: 15772651] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Lung and Pancreas. |
| [6] | Eichler E.E., Lu F., Shen Y., Muzny D.M., Gibbs R.A., Nelson D.L. Submitted (OCT-1995) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 121-246. |
| [7] | "p28 Bap31, a Bcl-2/Bcl-XL- and procaspase-8-associated protein in the endoplasmic reticulum." Ng F.W.H., Nguyen M., Kwan T., Branton P.E., Nicholson D.W., Cromlish J.A., Shore G.C. J. Cell Biol. 139:327-338(1997) [PubMed: 9334338] [Abstract] Cited for: PROTEIN SEQUENCE OF 2-11, SUBCELLULAR LOCATION, INTERACTION WITH BCL2; BCL2L1 AND CASP8. |
| [8] | "Export of cellubrevin from the endoplasmic reticulum is controlled by BAP31." Annaert W.G., Becker B., Kistner U., Reth M., Jahn R. J. Cell Biol. 139:1397-1410(1997) [PubMed: 9396746] [Abstract] Cited for: PROTEIN SEQUENCE OF 80-96 AND 205-214, SUBCELLULAR LOCATION, FUNCTION. |
| [9] | "Caspase-resistant BAP31 inhibits Fas-mediated apoptotic membrane fragmentation and release of cytochrome c from mitochondria." Nguyen M., Breckenridge D.G., Ducret A., Shore G.C. Mol. Cell. Biol. 20:6731-6740(2000) [PubMed: 10958671] [Abstract] Cited for: MUTAGENESIS OF ASP-164 AND ASP-238, ROLE IN APOPTOSIS. |
| [10] | "The procaspase-8 isoform, procaspase-8L, recruited to the BAP31 complex at the endoplasmic reticulum." Breckenridge D.G., Nguyen M., Kuppig S., Reth M., Shore G.C. Proc. Natl. Acad. Sci. U.S.A. 99:4331-4336(2002) [PubMed: 11917123] [Abstract] Cited for: INTERACTION WITH CASP8 ISOFORM 9. |
| [11] | "The yeast split-ubiquitin membrane protein two-hybrid screen identifies BAP31 as a regulator of the turnover of endoplasmic reticulum-associated protein tyrosine phosphatase-like B." Wang B., Pelletier J., Massaad M.J., Herscovics A., Shore G.C. Mol. Cell. Biol. 24:2767-2778(2004) [PubMed: 15024066] [Abstract] Cited for: INTERACTION WITH PTPLB. |
| [12] | Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. |
| [13] | "Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders." Corzo D., Gibson W., Johnson K., Mitchell G., LePage G., Cox G.F., Casey R., Zeiss C., Tyson H., Cutting G.R., Raymond G.V., Smith K.D., Watkins P.A., Moser A.B., Moser H.W., Steinberg S.J. Am. J. Hum. Genet. 70:1520-1531(2002) [PubMed: 11992258] [Abstract] Cited for: INVOLVEMENT IN CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| Z31696 mRNA. Translation: CAA83501.1. X81109 mRNA. Translation: CAA57015.1. X81817 mRNA. Translation: CAA57415.1. U52111 Genomic DNA. No translation available. BC014323 mRNA. Translation: AAH14323.1. BC065292 mRNA. Translation: AAH65292.1. U36341 Genomic DNA. Translation: AAA79508.1. | |
| IPI | IPI00218200. |
| PIR | S44279. |
| RefSeq | NP_001132913.1. NP_005736.3. |
| UniGene | Hs.522817 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | P51572. 13 interactions. |
Proteomic databases | |
| PRIDE | P51572. |
Genome annotation databases | |
| Ensembl | ENSG00000185825. Homo sapiens. [Contig view] |
| GeneID | 10134. |
| KEGG | hsa:10134. |
| UCSC | uc004fid.1. human. |
Organism-specific databases | |
| GeneCards | GC0XM152619. |
| H-InvDB | HIX0017135. |
| HGNC | HGNC:16695. BCAP31. |
| HPA | CAB015350. CAB015424. HPA003906. |
| MIM | 300398. gene. 300475. phenotype. |
| PharmGKB | PA128394569. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | P51572. |
| HOVERGEN | P51572. |
| OMA | P51572. NDQLKKG. |
Enzyme and pathway databases | |
| Reactome | REACT_578. Apoptosis. |
Gene expression databases | |
| ArrayExpress | P51572. |
| Bgee | P51572. |
| CleanEx | HS_BCAP31. |
| GermOnline | ENSG00000185825. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR008417. Bap31. [Graphical view] |
| PANTHER | PTHR12701. Bap31. 1 hit. |
| Pfam | PF05529. Bap31. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 38337. |
| PMAP-CutDB | P51572. |
| SOURCE | Search... |
Entry information
| Entry name | BAP31_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P51572 Secondary accession number(s): Q13836, Q96CF0 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome X Human chromosome X: entries, gene names and cross-references to MIM |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with


