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Aliases for BCAP31 Gene

Aliases for BCAP31 Gene

  • B-Cell Receptor-Associated Protein 31 2 3
  • DXS1357E 3 4 6
  • BAP31 3 4 6
  • 6C6-AG Tumor-Associated Antigen 3 4
  • DDCH 3 6
  • BCR-Associated Protein Bap31 3
  • BCR-Associated Protein 31 4
  • Protein CDM 4
  • P28 Bap31 3
  • 6C6-AG 3
  • P28 4
  • CDM 3

External Ids for BCAP31 Gene

Summaries for BCAP31 Gene

Entrez Gene Summary for BCAP31 Gene

  • 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]

GeneCards Summary for BCAP31 Gene

BCAP31 (B-Cell Receptor-Associated Protein 31) is a Protein Coding gene. Diseases associated with BCAP31 include deafness, dystonia, and cerebral hypomyelination and cadds. Among its related pathways are Akt Signaling and p70S6K Signaling. GO annotations related to this gene include receptor binding. An important paralog of this gene is BCAP29.

UniProtKB/Swiss-Prot for BCAP31 Gene

  • 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.

Gene Wiki entry for BCAP31 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BCAP31 Gene

Genomics for BCAP31 Gene

Genomic Location for BCAP31 Gene

Start:
153,700,492 bp from pter
End:
153,724,746 bp from pter
Size:
24,255 bases
Orientation:
Minus strand

Genomic View for BCAP31 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BCAP31 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BCAP31 Gene

Regulatory Elements for BCAP31 Gene

Transcription factor binding sites by QIAGEN in the BCAP31 gene promoter:

Proteins for BCAP31 Gene

  • Protein details for BCAP31 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51572-BAP31_HUMAN
    Recommended name:
    B-cell receptor-associated protein 31
    Protein Accession:
    P51572
    Secondary Accessions:
    • B3KQ79
    • D3DWV5
    • Q13836
    • Q96CF0

    Protein attributes for BCAP31 Gene

    Size:
    246 amino acids
    Molecular mass:
    27992 Da
    Quaternary 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 HACD2 (PubMed:15024066).

    Three dimensional structures from OCA and Proteopedia for BCAP31 Gene

    Alternative splice isoforms for BCAP31 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BCAP31 Gene

Proteomics data for BCAP31 Gene at MOPED

Post-translational modifications for BCAP31 Gene

  • Cleaved by CASP8 and other caspases
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys79, Lys95, Lys149, Lys158, Lys159, Lys167, Lys185, and Lys204

Other Protein References for BCAP31 Gene

No data available for DME Specific Peptides for BCAP31 Gene

Domains for BCAP31 Gene

Protein Domains for BCAP31 Gene

Suggested Antigen Peptide Sequences for BCAP31 Gene

Graphical View of Domain Structure for InterPro Entry

P51572

UniProtKB/Swiss-Prot:

BAP31_HUMAN
Family:
  • Belongs to the BCAP29/BCAP31 family.:
    • P51572
genes like me logo Genes that share domains with BCAP31: view

No data available for Gene Families for BCAP31 Gene

Function for BCAP31 Gene

Molecular function for BCAP31 Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for BCAP31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15024066
GO:0032403 protein complex binding IEA --
GO:0042288 MHC class I protein binding IEA --
genes like me logo Genes that share ontologies with BCAP31: view

Phenotypes for BCAP31 Gene

genes like me logo Genes that share phenotypes with BCAP31: view

miRNA for BCAP31 Gene

miRTarBase miRNAs that target BCAP31

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for BCAP31 Gene

Localization for BCAP31 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BCAP31 Gene

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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BCAP31 Gene COMPARTMENTS Subcellular localization image for BCAP31 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 5
cytosol 4
extracellular 2
golgi apparatus 2
mitochondrion 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for BCAP31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane --
GO:0005783 endoplasmic reticulum IDA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005811 lipid particle IDA 14741744
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with BCAP31: view

Pathways for BCAP31 Gene

genes like me logo Genes that share pathways with BCAP31: view

Pathways by source for BCAP31 Gene

2 Qiagen pathways for BCAP31 Gene
1 Cell Signaling Technology pathway for BCAP31 Gene

Gene Ontology (GO) - Biological Process for BCAP31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I TAS --
GO:0006886 intracellular protein transport IEA --
GO:0006888 ER to Golgi vesicle-mediated transport IEA --
GO:0006915 apoptotic process TAS --
GO:0006921 cellular component disassembly involved in execution phase of apoptosis TAS --
genes like me logo Genes that share ontologies with BCAP31: view

Transcripts for BCAP31 Gene

Unigene Clusters for BCAP31 Gene

B-cell receptor-associated protein 31:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BCAP31 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4a · 4b · 4c · 4d · 4e · 4f · 4g ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9a · 9b ^
SP1: - - - - - - - - - - - - -
SP2: - - - -
SP3: - - - - - - -
SP4: - - - - - - - - - - - -
SP5: - - - - - - - - - -
SP6: - - - - - - - - - - - - - - - -
SP7: - - - - - - - - - - -
SP8: - - - - -
SP9: - - - - - - - - - - -
SP10: - - -
SP11: - -
SP12:

ExUns: 10a · 10b ^ 11
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for BCAP31 Gene

GeneLoc Exon Structure for
BCAP31
ECgene alternative splicing isoforms for
BCAP31

Expression for BCAP31 Gene

mRNA expression in normal human tissues for BCAP31 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for BCAP31 Gene

SOURCE GeneReport for Unigene cluster for BCAP31 Gene Hs.522817

mRNA Expression by UniProt/SwissProt for BCAP31 Gene

P51572-BAP31_HUMAN
Tissue specificity: Ubiquitous. Highly expressed in neurons and discrete endocrine cells.
genes like me logo Genes that share expressions with BCAP31: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for BCAP31 Gene

Orthologs for BCAP31 Gene

This gene was present in the common ancestor of animals.

Orthologs for BCAP31 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia BCAP31 35
  • 88.07 (n)
  • 90.12 (a)
BCAP31 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BCAP31 35
  • 88.75 (n)
  • 91.06 (a)
BCAP31 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bcap31 35
  • 88.57 (n)
  • 91.02 (a)
Bcap31 16
Bcap31 36
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BCAP31 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BCAP31 36
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bcap31 35
  • 89.52 (n)
  • 92.24 (a)
chicken
(Gallus gallus)
Aves BCAP31 36
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BCAP31 36
  • 75 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.29322 35
tropical clawed frog
(Silurana tropicalis)
Amphibia bcap31 35
  • 72.06 (n)
  • 74.27 (a)
MGC75863 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8610 35
zebrafish
(Danio rerio)
Actinopterygii bcap31 35
  • 67.35 (n)
  • 65.16 (a)
bcap31 36
  • 65 (a)
OneToOne
sibz30i22.4 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010557 35
  • 53.7 (n)
  • 46.15 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG13887 35
  • 54.69 (n)
  • 43.78 (a)
CG13887 36
  • 40 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y54G2A.18 35
  • 51.7 (n)
  • 42.86 (a)
Y54G2A.18 36
  • 41 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10894 36
  • 45 (a)
OneToMany
Species with no ortholog for BCAP31:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BCAP31 Gene

ENSEMBL:
Gene Tree for BCAP31 (if available)
TreeFam:
Gene Tree for BCAP31 (if available)

Paralogs for BCAP31 Gene

Paralogs for BCAP31 Gene

Selected SIMAP similar genes for BCAP31 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for BCAP31 Gene

genes like me logo Genes that share paralogs with BCAP31: view

Variants for BCAP31 Gene

Sequence variations from dbSNP and Humsavar for BCAP31 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs13126 -- 153,700,679(-) GGCTT(C/T)CACGC utr-variant-3-prime
rs371296 -- 153,703,238(+) CGTGG(C/T)TGCCC intron-variant
rs402344 -- 153,712,411(+) AAAAA(A/T)AAATA intron-variant
rs438068 -- 153,700,869(+) AGGCC(A/G)GGCTC utr-variant-3-prime
rs454730 -- 153,703,294(+) CCGGG(A/C)ACGCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BCAP31 Gene

Variant ID Type Subtype PubMed ID
esv33199 CNV Gain+Loss 17666407
esv1003299 CNV Gain 20482838
esv21656 CNV Gain+Loss 19812545

Relevant External Links for BCAP31 Gene

HapMap Linkage Disequilibrium report
BCAP31
Human Gene Mutation Database (HGMD)
BCAP31

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BCAP31 Gene

Disorders for BCAP31 Gene

(1) OMIM Diseases for BCAP31 Gene (300398)

UniProtKB/Swiss-Prot

BAP31_HUMAN
  • 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:0000269 PubMed: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:0000269 PubMed:11992258}.

(1) Novoseek inferred disease relationships for BCAP31 Gene

Disease -log(P) Hits PubMed IDs
adrenoleukodystrophy 57.2 2
genes like me logo Genes that share disorders with BCAP31: view

Publications for BCAP31 Gene

  1. A new human gene (DXS1357E) with ubiquitous expression, located in Xq28 adjacent to the adrenoleukodystrophy gene. (PMID: 7806238) Mosser J. … Mandel J.-L. (Genomics 1994) 3 4 23
  2. The specificity of association of the IgD molecule with the accessory proteins BAP31/BAP29 lies in the IgD transmembrane sequence. (PMID: 8612576) Adachi T. … Reth M. (EMBO J. 1996) 3 4 23
  3. p28 Bap31, a Bcl-2/Bcl-XL- and procaspase-8-associated protein in the endoplasmic reticulum. (PMID: 9334338) Ng F.W.H. … Shore G.C. (J. Cell Biol. 1997) 3 4 23
  4. Export of cellubrevin from the endoplasmic reticulum is controlled by BAP31. (PMID: 9396746) Annaert W.G. … Jahn R. (J. Cell Biol. 1997) 3 4 23
  5. Caspase-resistant BAP31 inhibits Fas-mediated apoptotic membrane fragmentation and release of cytochrome c from mitochondria. (PMID: 10958671) Nguyen M. … Shore G.C. (Mol. Cell. Biol. 2000) 3 4 23

Products for BCAP31 Gene

Sources for BCAP31 Gene

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