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

Gene ID: 10134, updated on 5-Jan-2020

Summary

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
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; DXS1357E
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

Genomic context

See BCAP31 in Genome Data Viewer
Location:
Xq28
Exon count:
8
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (153700492..153724746, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (152965947..152990201, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene pregnancy up-regulated nonubiquitous CaM kinase Neighboring gene solute carrier family 6 member 8 Neighboring gene ATP binding cassette subfamily D member 1 Neighboring gene uncharacterized LOC102723591 Neighboring gene plexin B3

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
MHC class I protein binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
ER to Golgi vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
antigen processing and presentation of peptide antigen via MHC class I TAS
Traceable Author Statement
more info
 
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
calcium-mediated signaling using intracellular calcium source IMP
Inferred from Mutant Phenotype
more info
PubMed 
intracellular protein transport IEA
Inferred from Electronic Annotation
more info
 
negative regulation of endoplasmic reticulum calcium ion concentration IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of ER-associated ubiquitin-dependent protein catabolic process IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of cysteine-type endopeptidase activity involved in apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cytosolic calcium ion concentration IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of intrinsic apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of mitochondrial calcium ion concentration IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of retrograde protein transport, ER to cytosol IDA
Inferred from Direct Assay
more info
PubMed 
protein localization to endoplasmic reticulum exit site IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi cisterna membrane IEA
Inferred from Electronic Annotation
more info
 
cell IEA
Inferred from Electronic Annotation
more info
 
clathrin-coated vesicle IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
endoplasmic reticulum-Golgi intermediate compartment membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of lumenal side of endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
lipid droplet IDA
Inferred from Direct Assay
more info
PubMed 
membrane HDA PubMed 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
perinuclear endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    5364..29255
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001139441.1NP_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
    P51572
    Conserved Domains (1) summary
    pfam05529
    Location:1224
    Bap31; B-cell receptor-associated protein 31-like
  2. NM_001139457.2NP_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:68291
    Bap31; B-cell receptor-associated protein 31-like
  3. NM_001256447.2NP_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
    P51572
    Related
    ENSP00000343458.6, ENST00000345046.12
    Conserved Domains (1) summary
    pfam05529
    Location:1224
    Bap31; B-cell receptor-associated protein 31-like
  4. NM_005745.7NP_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
    Consensus CDS
    CCDS14727.1
    UniProtKB/Swiss-Prot
    P51572
    Related
    ENSP00000499882.1, ENST00000672675.1
    Conserved Domains (1) summary
    pfam05529
    Location:1224
    Bap31; B-cell receptor-associated protein 31-like

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    153700492..153724746 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_002958759.1 RNA Sequence

  2. XR_002958760.1 RNA Sequence

  3. XR_002958761.1 RNA Sequence

  4. XR_002958758.1 RNA Sequence

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