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BCAP31 B cell receptor associated protein 31 [ Homo sapiens (human) ]

Gene ID: 10134, updated on 3-Nov-2024

Summary

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Official Symbol
BCAP31provided by HGNC
Official Full Name
B cell receptor associated protein 31provided by HGNC
Primary source
HGNC:HGNC:16695
See related
Ensembl:ENSG00000185825 MIM:300398; AllianceGenome:HGNC:16695
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CDM; DDCH; BAP31; 6C6-AG; DELXQ28; DXS1357E; MICRODELXq28
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]
Expression
Ubiquitous expression in fat (RPKM 94.9), adrenal (RPKM 52.3) and 25 other tissues See more
Orthologs
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Genomic context

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See BCAP31 in Genome Data Viewer
Location:
Xq28
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (153700492..153724387, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (151974158..151998050, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (152965947..152989842, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chrX:152936222-152936477 Neighboring gene pregnancy up-regulated nonubiquitous CaM kinase Neighboring gene solute carrier family 6 member 8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:152972381-152972881 Neighboring gene Sharpr-MPRA regulatory region 5891 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21069 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21070 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:152990931-152991752 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30037 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30038 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30039 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:152998767-152999458 Neighboring gene uncharacterized LOC124905226 Neighboring gene ATP binding cassette subfamily D member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153005935-153006435 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153008185-153008886 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153008887-153009586 Neighboring gene PLXNB3 antisense RNA 1 Neighboring gene plexin B3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Viral subversion of immunogenic cell death. Kepp O, et al. Cell Cycle, 2009 Mar 15. PMID 19221507
  2. Endoplasmic reticulum quality control and apoptosis. Groenendyk J, et al. Acta Biochim Pol, 2005. PMID 15933766
  3. BAP31: Physiological functions and roles in disease. Quistgaard EM. Biochimie, 2021 Jul. PMID 33930507
  4. Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants. Whalen S, et al. Eur J Hum Genet, 2021 Sep. PMID 33603160, Free PMC Article
  5. Biological roles of the B cell receptor-associated protein 31: Functional Implication in Cancer. Namusamba M, et al. Mol Biol Rep, 2021 Jan. PMID 33439410

See all (200) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. p20BAP31 Induces Autophagy in Colorectal Cancer Cells by Promoting PERK-Mediated ER Stress.
    Title: p20BAP31 Induces Autophagy in Colorectal Cancer Cells by Promoting PERK-Mediated ER Stress.
  2. BAP31 Promotes Angiogenesis via Galectin-3 Upregulation in Neuroblastoma.
    Title: BAP31 Promotes Angiogenesis via Galectin-3 Upregulation in Neuroblastoma.
  3. NDC1 promotes hepatocellular carcinoma tumorigenesis by targeting BCAP31 to activate PI3K/AKT signaling.
    Title: NDC1 promotes hepatocellular carcinoma tumorigenesis by targeting BCAP31 to activate PI3K/AKT signaling.
  4. BAP31-Mediated miR-206/133b Cluster Promotes Transendothelial Migration and Metastasis of Colorectal Cancer.
    Title: BAP31-Mediated miR-206/133b Cluster Promotes Transendothelial Migration and Metastasis of Colorectal Cancer.
  5. HNF4A-BAP31-VDAC1 axis synchronously regulates cell proliferation and ferroptosis in gastric cancer.
    Title: HNF4A-BAP31-VDAC1 axis synchronously regulates cell proliferation and ferroptosis in gastric cancer.
  6. Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.
    Title: Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.
  7. BAP31: Physiological functions and roles in disease.
    Title: BAP31: Physiological functions and roles in disease.
  8. Schimke XLID syndrome results from a deletion in BCAP31.
    Title: Schimke XLID syndrome results from a deletion in BCAP31.
  9. Biological roles of the B cell receptor-associated protein 31: Functional Implication in Cancer.
    Title: Biological roles of the B cell receptor-associated protein 31: Functional Implication in Cancer.
  10. Immunohistochemical expression of BCAP 31 in chronic plaque psoriasis.
    Title: Immunohistochemical expression of BCAP 31 in chronic plaque psoriasis.
Submit: New GeneRIF Correction See all GeneRIFs (43)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
MedGen: C3806634 OMIM: 300475 GeneReviews: Not available
not available

Copy number response

Description
Copy number response
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2023-08-08)

ClinGen Genome Curation PagePubMed
Triplosensitivity

No evidence available (Last evaluated 2023-08-08)

ClinGen Genome Curation Page

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope transmembrane glycoprotein gp41 env HIV-1 gp41 is identified to have a physical interaction with B-cell receptor-associated protein 31 (BCAP31) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
Nef nef The yeast two-hybrid screen and the coimmunoprecipitation analysis identify the HIV-1 Nef interacting human protein B-cell receptor-associated protein 31 (BAP31), which co-localizes with Nef mainly along membranes of the nucleus or ER/Golgi structures PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables MHC class I protein binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in intracellular protein transport IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of ERAD pathway IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in positive regulation of intrinsic apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of retrograde protein transport, ER to cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of ubiquitin-dependent protein catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein localization to endoplasmic reticulum exit site IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein targeting to mitochondrion IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in response to endoplasmic reticulum stress IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in spermatogenesis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Golgi cisterna membrane IEA
Inferred from Electronic Annotation
more info
  
located_in Golgi membrane IEA
Inferred from Electronic Annotation
more info
  
located_in clathrin-coated vesicle IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
located_in endoplasmic reticulum-Golgi intermediate compartment membrane IEA
Inferred from Electronic Annotation
more info
  
located_in lipid droplet IDA
Inferred from Direct Assay
more info
 PubMed 
located_in lumenal side of endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
located_in membrane HDA PubMed 
located_in mitochondria-associated endoplasmic reticulum membrane contact site IDA
Inferred from Direct Assay
more info
 PubMed 
located_in perinuclear endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
B-cell receptor-associated protein 31
Names
6C6-AG tumor-associated antigen
BCR-associated protein Bap31
p28 Bap31

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_023231.1 RefSeqGene

    Range
    5360..29255
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001139441.1 → NP_001132913.1  B-cell receptor-associated protein 31 isoform b

    See identical proteins and their annotated locations for NP_001132913.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a. Variants 2, 3 and 4 all encode isoform b.
    Source sequence(s)
    AI123868, BC065292, CX164660, DA819112
    Consensus CDS
    CCDS14727.1
    UniProtKB/Swiss-Prot
    B3KQ79, D3DWV5, P51572, Q13836, Q96CF0
    UniProtKB/TrEMBL
    Q53G72, Q53HT6
    Conserved Domains (3) summary
    PRK02224
    Location:134 → 229
    PRK02224; DNA double-strand break repair Rad50 ATPase
    pfam05529
    Location:1 → 136
    Bap31; B-cell receptor-associated protein 31-like
    pfam18035
    Location:193 → 246
    Bap31_Bap29_C; Bap31/Bap29 cytoplasmic coiled-coil domain

  2. NM_001139457.2 → NP_001132929.1  B-cell receptor-associated protein 31 isoform a

    See identical proteins and their annotated locations for NP_001132929.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
    Source sequence(s)
    AI123868, AK057613, BG779815
    Consensus CDS
    CCDS48191.1
    UniProtKB/Swiss-Prot
    P51572
    Related
    ENSP00000392330.2, ENST00000458587.8
    Conserved Domains (1) summary
    pfam05529
    Location:68 → 291
    Bap31; B-cell receptor-associated protein 31-like

  3. NM_001256447.2 → NP_001243376.1  B-cell receptor-associated protein 31 isoform b

    See identical proteins and their annotated locations for NP_001243376.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a. Variants 2, 3 and 4 all encode isoform b.
    Source sequence(s)
    AI123868, BC065292, DA134013, U52111
    Consensus CDS
    CCDS14727.1
    UniProtKB/Swiss-Prot
    B3KQ79, D3DWV5, P51572, Q13836, Q96CF0
    UniProtKB/TrEMBL
    Q53G72, Q53HT6
    Related
    ENSP00000343458.6, ENST00000345046.12
    Conserved Domains (3) summary
    PRK02224
    Location:134 → 229
    PRK02224; DNA double-strand break repair Rad50 ATPase
    pfam05529
    Location:1 → 136
    Bap31; B-cell receptor-associated protein 31-like
    pfam18035
    Location:193 → 246
    Bap31_Bap29_C; Bap31/Bap29 cytoplasmic coiled-coil domain

  4. NM_005745.8 → NP_005736.3  B-cell receptor-associated protein 31 isoform b

    See identical proteins and their annotated locations for NP_005736.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a. Variants 2, 3 and 4 all encode isoform b.
    Source sequence(s)
    AI123868, AU132745, BC065292, BX474419, U52111
    Consensus CDS
    CCDS14727.1
    UniProtKB/Swiss-Prot
    B3KQ79, D3DWV5, P51572, Q13836, Q96CF0
    UniProtKB/TrEMBL
    Q53G72, Q53HT6
    Related
    ENSP00000499882.1, ENST00000672675.1
    Conserved Domains (3) summary
    PRK02224
    Location:134 → 229
    PRK02224; DNA double-strand break repair Rad50 ATPase
    pfam05529
    Location:1 → 136
    Bap31; B-cell receptor-associated protein 31-like
    pfam18035
    Location:193 → 246
    Bap31_Bap29_C; Bap31/Bap29 cytoplasmic coiled-coil domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    153700492..153724387 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    151974158..151998050 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P51572.3 GenPept UniProtKB/Swiss-Prot:P51572

Gene LinkOut

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