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Aliases for BCAP31 Gene

Aliases for BCAP31 Gene

  • B-Cell Receptor Associated Protein 31 2 3
  • B-Cell Receptor-Associated Protein 31 3 5
  • 6C6-AG Tumor-Associated Antigen 3 4
  • DXS1357E 3 4
  • BAP31 3 4
  • BCR-Associated Protein Bap31 3
  • BCR-Associated Protein 31 4
  • Protein CDM 4
  • P28 Bap31 3
  • 6C6-AG 3
  • DDCH 3
  • CDM 3
  • P28 4

External Ids for BCAP31 Gene

Previous GeneCards Identifiers for BCAP31 Gene

  • GC0XM147103
  • GC0XM149420
  • GC0XM150551
  • GC0XM151433
  • GC0XM152486
  • GC0XM152619
  • GC0XM152965
  • GC0XM141623

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 Chromosome Xq28 Deletion Syndrome. Among its related pathways are Apoptosis and Autophagy and CDK-mediated phosphorylation and removal of Cdc6. GO annotations related to this gene include protein complex binding and MHC class I protein 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BCAP31 Gene

Genomics for BCAP31 Gene

Regulatory Elements for BCAP31 Gene

Enhancers for BCAP31 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG153886 0.9 FANTOM5 ENCODE 12.1 -162.2 -162222 1.3 ZNF263 MAZ KLF1 ZIC2 GATA3 ZBTB48 GATA2 IKZF1 EGR2 EZH2 RENBP TMEM187 PDZD4 SSR4 IDH3G SRPK3 PLXNB3 ARHGAP4 NAA10 ABCD1
GH0XG153844 0.5 ENCODE 12 -120.9 -120934 1.8 ZNF316 PBX2 MAFG EMSY MAFK IDH3G SSR4 SRPK3 PLXNB3 L1CAM BCAP31 ABCD1 FAM3A CYCSP45 GC0XM153869
GH0XG153854 0.4 ENCODE 11.5 -130.1 -130115 0.2 CTCF HLF L1CAM PDZD4 AVPR2 SSR4 IDH3G SRPK3 PLXNB3 BCAP31 ABCD1 CYCSP45
GH0XG153708 1.1 Ensembl ENCODE 0.4 +16.0 15998 1.4 HDAC1 ATF1 RB1 ARID4B SIN3A KLF17 ZNF2 RAD21 FOS ZNF654 PLXNA3 BCAP31 PNCK
GH0XG153702 1 FANTOM5 ENCODE 0.4 +19.7 19682 4.6 CTCF KLF1 NFIB HLF KLF17 ZNF623 NFIC ZBTB48 POLR2A SMARCA4 SRPK3 PNCK SLC6A8 IKBKG AVPR2 BCAP31
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BCAP31 on UCSC Golden Path with GeneCards custom track

Promoters for BCAP31 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000249590 546 2401 FOXA2 PKNOX1 ARID4B SIN3A BRCA1 GLIS2 ELK1 FOS ZNF263 SP3

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

Genomic Location for BCAP31 Gene

Chromosome:
X
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

Genes around BCAP31 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BCAP31 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BCAP31 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BCAP31 Gene

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

Post-translational modifications for BCAP31 Gene

  • Cleaved by CASP8 and other caspases.
  • Ubiquitination at Lys79, Lys95, Lys149, posLast=158158, Lys159, Lys167, Lys185, and Lys204
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for BCAP31 (BCAP31 iso2)

No data available for DME Specific Peptides for BCAP31 Gene

Domains & Families 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 :
  • Belongs to the BCAP29/BCAP31 family.
Family:
  • Belongs to the BCAP29/BCAP31 family.
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 9334338
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
genes like me logo Genes that share phenotypes with BCAP31: view

Human Phenotype Ontology for BCAP31 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for BCAP31 Gene

miRTarBase miRNAs that target BCAP31

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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. {ECO:0000269 PubMed:9396746}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BCAP31 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
cytosol 5
mitochondrion 3
golgi apparatus 3
extracellular 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for BCAP31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005783 endoplasmic reticulum IEA,IDA 18555783
GO:0005784 colocalizes_with Sec61 translocon complex IPI 18555783
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005811 lipid particle IDA 14741744
genes like me logo Genes that share ontologies with BCAP31: view

Pathways & Interactions for BCAP31 Gene

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

Pathways by source for BCAP31 Gene

2 Sino Biological pathways for BCAP31 Gene
1 Cell Signaling Technology pathway for BCAP31 Gene
1 KEGG pathway for BCAP31 Gene
2 Qiagen pathways 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:0006810 transport IEA --
GO:0006886 intracellular protein transport IEA --
GO:0006888 ER to Golgi vesicle-mediated transport IEA,IBA --
GO:0006915 apoptotic process IEA --
genes like me logo Genes that share ontologies with BCAP31: view

No data available for SIGNOR curated interactions for BCAP31 Gene

Transcripts for BCAP31 Gene

Unigene Clusters for BCAP31 Gene

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

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for BCAP31 Gene

Protein differential expression in normal tissues from HIPED for BCAP31 Gene

This gene is overexpressed in Nasal epithelium (42.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for BCAP31 Gene



Protein tissue co-expression partners for BCAP31 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BCAP31 Gene:

BCAP31

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.

Evidence on tissue expression from TISSUES for BCAP31 Gene

  • Lung(4.7)
  • Liver(4.6)
  • Pancreas(4.6)
  • Stomach(4.6)
  • Nervous system(4.5)
  • Skin(3.8)
  • Intestine(3.6)
  • Kidney(3.6)
  • Eye(2.9)
  • Blood(2.7)
  • Adrenal gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BCAP31 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • face
  • head
  • skull
Limb:
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with BCAP31: view

Primer Products

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
rat
(Rattus norvegicus)
Mammalia Bcap31 34
  • 89.52 (n)
dog
(Canis familiaris)
Mammalia BCAP31 34 35
  • 88.75 (n)
mouse
(Mus musculus)
Mammalia Bcap31 34 16 35
  • 88.57 (n)
cow
(Bos Taurus)
Mammalia BCAP31 34 35
  • 88.07 (n)
oppossum
(Monodelphis domestica)
Mammalia BCAP31 35
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BCAP31 35
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves BCAP31 35
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BCAP31 35
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bcap31 34
  • 72.06 (n)
MGC75863 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.29322 34
zebrafish
(Danio rerio)
Actinopterygii bcap31 34 35
  • 67.35 (n)
sibz30i22.4 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8610 34
fruit fly
(Drosophila melanogaster)
Insecta CG13887 34 35
  • 54.69 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010557 34
  • 53.7 (n)
worm
(Caenorhabditis elegans)
Secernentea Y54G2A.18 34 35
  • 51.7 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10894 35
  • 45 (a)
OneToMany
Species where no ortholog for BCAP31 was found in the sources mined by GeneCards:
  • 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

(1) 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
rs1057516052 Pathogenic 153,725,795(+) TCTCC(C/T)AGCAG nc-transcript-variant, upstream-variant-2KB, reference, stop-gained
rs1057518721 Pathogenic 153,723,558(-) GGGAT(A/C)GTCGG intron-variant, upstream-variant-2KB, reference, stop-gained
rs128624213 Pathogenic 153,726,137(+) ACTCG(A/G)AGGAG nc-transcript-variant, upstream-variant-2KB, reference, missense
rs128624216 Pathogenic 153,725,709(+) CGTCA(A/G)CAGTG nc-transcript-variant, upstream-variant-2KB, reference, missense
rs128624217 Pathogenic 153,725,786(+) GCCTC(G/T)ACTTC nc-transcript-variant, upstream-variant-2KB, reference, missense

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

Variant ID Type Subtype PubMed ID
esv1003299 CNV gain 20482838
esv21656 CNV gain+loss 19812545
esv33199 CNV gain+loss 17666407
esv3577533 CNV gain 25503493

Variation tolerance for BCAP31 Gene

Residual Variation Intolerance Score: 64.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.51; 11.16% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BCAP31 Gene

Human Gene Mutation Database (HGMD)
BCAP31
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BCAP31

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

Disorders for BCAP31 Gene

MalaCards: The human disease database

(7) MalaCards diseases for BCAP31 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
deafness, dystonia, and cerebral hypomyelination
  • cadds
chromosome xq28 deletion syndrome
  • x chromosome, monosomy xq28
adrenoleukodystrophy
  • adrenomyeloneuropathy, adult
cerebral creatine deficiency syndrome 1
  • creatine transporter deficiency
cerebral creatine deficiency syndrome
  • cerebral creatine deficiency syndromes
- elite association - COSMIC cancer census association via MalaCards

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}.

Relevant External Links for BCAP31

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BCAP31
genes like me logo Genes that share disorders with BCAP31: view

No data available for Genatlas for BCAP31 Gene

Publications for BCAP31 Gene

  1. 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. (PMID: 15024066) Wang B. … Shore G.C. (Mol. Cell. Biol. 2004) 3 4 22 64
  2. The procaspase-8 isoform, procaspase-8L, recruited to the BAP31 complex at the endoplasmic reticulum. (PMID: 11917123) Breckenridge D.G. … Shore G.C. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 4 22 64
  3. Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. (PMID: 11992258) Corzo D. … Steinberg S.J. (Am. J. Hum. Genet. 2002) 3 4 22 64
  4. 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 22 64
  5. 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 22 64

Products for BCAP31 Gene

Sources for BCAP31 Gene

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