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Aliases for BCAP31 Gene

Aliases for BCAP31 Gene

  • B Cell Receptor Associated Protein 31 2 3 5
  • 6C6-AG Tumor-Associated Antigen 3 4
  • DXS1357E 3 4
  • BAP31 3 4
  • B-Cell Receptor-Associated Protein 31 3
  • BCR-Associated Protein Bap31 3
  • BCR-Associated Protein 31 4
  • Protein CDM 4
  • P28 Bap31 3
  • 6C6-AG 3
  • Bap31 4
  • 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 Akt Signaling and Protein processing in endoplasmic reticulum. Gene Ontology (GO) annotations related to this gene include 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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for BCAP31 Gene

Promoters and enhancers for BCAP31 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ153721 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 -0.8 -847 7.2 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 IRF4 POLR2B KLF13 SP3 SP5 BCAP31 ABCD1 PNCK SLC6A8 KRT18P48 PDZD4 PLXNB3
GH0XJ153763 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 650.3 -40.9 -40851 3.4 HDGF PKNOX1 SMAD1 FOXA2 ARNT ARID4B SIN3A ZNF2 POLR2B ZNF766 LOC102723591 PLXNB3 BCAP31 DKC1
GH0XJ153884 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE 12.1 -161.4 -161359 3 CTCF KLF1 MAX KLF17 ZIC2 RAD21 HIC1 ZFHX2 GATA3 GLIS2 L1CAM RENBP TMEM187 HCFC1 SNORA70 PDZD4 IDH3G SSR4 SRPK3 PLXNB3
GH0XJ153844 Enhancer 0.6 ENCODE 12 -120.9 -120933 1.8 MEIS2 NANOG BACH1 MAFG SP1 ZNF316 ZNF143 MAFK EMSY SSR4 IDH3G SRPK3 PLXNB3 L1CAM ABCD1 BCAP31 FAM3A CYCSP45 GC0XM153869
GH0XJ153854 Enhancer 0.4 ENCODE 11.5 -130.1 -130115 0.2 CTCF HLF L1CAM PDZD4 AVPR2 IDH3G SSR4 SRPK3 PLXNB3 ABCD1 BCAP31 CYCSP45
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BCAP31 on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for BCAP31 Gene

Genomic Locations for BCAP31 Gene
chrX:153,700,492-153,724,746
(GRCh38/hg38)
Size:
24,255 bases
Orientation:
Minus strand
chrX:152,965,947-152,990,201
(GRCh37/hg19)

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 posLast=204204, Lys185, Lys167, Lys159, Lys158, Lys149, Lys95, and posLast=7979
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for BCAP31 Gene

Domains & Families for BCAP31 Gene

Gene Families for BCAP31 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

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

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:0042288 MHC class I protein binding IEA --
GO:0044877 protein-containing complex 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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BCAP31

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BCAP31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005783 endoplasmic reticulum IDA,IEA 18555783
GO:0005784 colocalizes_with Sec61 translocon complex IPI 18555783
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005811 lipid droplet 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 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 IBA --
GO:0006915 apoptotic process IEA --
GO:0007204 positive regulation of cytosolic calcium ion concentration IMP 21183955
genes like me logo Genes that share ontologies with BCAP31: view

No data available for SIGNOR curated interactions for BCAP31 Gene

Drugs & Compounds for BCAP31 Gene

No Compound Related Data Available

Transcripts for BCAP31 Gene

Unigene Clusters for BCAP31 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BCAP31

Clone 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, 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
Regions:
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

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 33
  • 89.52 (n)
dog
(Canis familiaris)
Mammalia BCAP31 34 33
  • 88.75 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Bcap31 16 34 33
  • 88.57 (n)
cow
(Bos Taurus)
Mammalia BCAP31 34 33
  • 88.07 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BCAP31 34
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BCAP31 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves BCAP31 34
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BCAP31 34
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bcap31 33
  • 72.06 (n)
MGC75863 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.29322 33
zebrafish
(Danio rerio)
Actinopterygii bcap31 34 33
  • 67.35 (n)
OneToOne
sibz30i22.4 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8610 33
fruit fly
(Drosophila melanogaster)
Insecta CG13887 34 33
  • 54.69 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010557 33
  • 53.7 (n)
worm
(Caenorhabditis elegans)
Secernentea Y54G2A.18 34 33
  • 51.7 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10894 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for BCAP31: view image

Paralogs for BCAP31 Gene

Paralogs for BCAP31 Gene

(1) SIMAP similar genes for BCAP31 Gene using alignment to 6 proteins:

  • BAP31_HUMAN
  • C9J0M4_HUMAN
  • C9JM14_HUMAN
  • C9JMD7_HUMAN
  • C9JQ75_HUMAN
  • C9JSP1_HUMAN

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 Variation AA Info Type
rs1057516052 pathogenic, Adrenoleukodystrophy 153,725,795(-) C/T upstream_transcript_variant
rs1057518721 pathogenic, Chromosome Xq28 deletion syndrome 153,723,558(-) G/T coding_sequence_variant, intron_variant, stop_gained
rs1057518852 uncertain-significance, Global developmental delay, Seizures 153,720,946(-) A/G coding_sequence_variant, missense_variant
rs128624213 pathogenic, Adrenoleukodystrophy 153,726,137(-) G/A upstream_transcript_variant
rs128624216 pathogenic, Adrenoleukodystrophy 153,725,709(-) A/G upstream_transcript_variant

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)

Additional Variant Information 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

(8) MalaCards diseases for BCAP31 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- 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}.

Additional Disease Information for 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 GC (Molecular and cellular biology 2004) 3 4 22 58
  2. The procaspase-8 isoform, procaspase-8L, recruited to the BAP31 complex at the endoplasmic reticulum. (PMID: 11917123) Breckenridge DG … Shore GC (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 4 22 58
  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 SJ (American journal of human genetics 2002) 3 4 22 58
  4. Caspase-resistant BAP31 inhibits fas-mediated apoptotic membrane fragmentation and release of cytochrome c from mitochondria. (PMID: 10958671) Nguyen M … Shore GC (Molecular and cellular biology 2000) 3 4 22 58
  5. Export of cellubrevin from the endoplasmic reticulum is controlled by BAP31. (PMID: 9396746) Annaert WG … Jahn R (The Journal of cell biology 1997) 3 4 22 58

Products for BCAP31 Gene

Sources for BCAP31 Gene

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