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

    Gene ID: 10134, updated on 9-Dec-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
    mouse all
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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
    • 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. Possible mitochondrial dysfunction in a patient with deafness, dystonia, and cerebral hypomyelination (DDCH) due to BCAP31 Mutation. Shimizu K, et al. Mol Genet Genomic Med, 2020 Mar. PMID 31953925, Free PMC Article
    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. Assembly of MHC class I molecules within the endoplasmic reticulum. Zhang Y, et al. Immunol Res, 2006. PMID 17003517
    5. 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

    See all (201) 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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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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
    		Compare labs

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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