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BCAP31 Gene

protein-coding   GIFtS: 62
GCID: GC0XM152965

B-Cell Receptor-Associated Protein 31

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
B-Cell Receptor-Associated Protein 311 2     BCR-Associated Protein Bap312
BAP312 3 5     P28 Bap312
DXS1357E2 3 5     Bap313
6C6-AG Tumor-Associated Antigen2 3     BCR-Associated Protein 313
DDCH2 5     p283
6C6-AG2     Protein CDM3
CDM2     

External Ids:    HGNC: 166951   Entrez Gene: 101342   Ensembl: ENSG000001858257   OMIM: 3003985   UniProtKB: P515723   

Export aliases for BCAP31 gene to outside databases

Previous GC identifers: GC0XM147103 GC0XM149420 GC0XM150551 GC0XM151433 GC0XM152486 GC0XM152619 GC0XM141623


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 adrenoleukodystrophy. GO annotations related to this gene include receptor binding. An important paralog of this gene is BCAP29.

UniProtKB/Swiss-Prot: BAP31_HUMAN, P51572
Function: May play a role in anterograde transport of membrane proteins from the endoplasmic reticulum to the
Golgi. May be involved in CASP8-mediated apoptosis

Gene Wiki entry for BCAP31 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NC_018934.2  NT_011681.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the BCAP31 gene promoter:
         ISGF-3   AP-1   Nkx2-5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): BCAP31 promoter sequence
   Search Chromatin IP Primers for BCAP31

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BCAP31


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

BCAP31 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BCAP31 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM152965:  view genomic region     (about GC identifiers)

Start:
152,965,947 bp from pter      End:
152,990,201 bp from pter
Size:
24,255 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: BAP31_HUMAN, P51572 (See protein sequence)
Recommended Name: B-cell receptor-associated protein 31  
Size: 246 amino acids; 27992 Da
Subunit: 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 PTPLB
2 PDB 3D structures from and Proteopedia for BCAP31:
4JZL (3D)        4JZP (3D)    
Secondary accessions: B3KQ79 D3DWV5 Q13836 Q96CF0
Alternative splicing: 2 isoforms:  P51572-1   P51572-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BCAP31: NX_P51572

Explore proteomics data for BCAP31 at MOPED

Post-translational modifications: 

  • Cleaved by CASP8 and other caspases1
  • Ubiquitination2 at Lys79, Lys95, Lys149, Lys158, Lys159, Lys167, Lys185, Lys204
  • Modification sites at PhosphoSitePlus

  • See BCAP31 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001132913.1  NP_001132929.1  NP_001243376.1  NP_005736.3  

    ENSEMBL proteins: 
     ENSP00000343458   ENSP00000392330   ENSP00000400345   ENSP00000409888   ENSP00000394270  
     ENSP00000389740   ENSP00000402342   ENSP00000405417  
    Reactome Protein details: P51572

    BCAP31 Human Recombinant Protein Products:

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    BCAP31 Antibody Products:

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    BCAP31 Assay Products:

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    Cloud-Clone Corp. CLIAs for BCAP31


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR008417 Bap31

    Graphical View of Domain Structure for InterPro Entry P51572

    ProtoNet protein and cluster: P51572

    1 Blocks protein domain: IPB008417 B-cell receptor-associated 31-like

    UniProtKB/Swiss-Prot: BAP31_HUMAN, P51572
    Similarity: Belongs to the BCAP29/BCAP31 family


    BCAP31 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BAP31_HUMAN, P51572
    Function: May play a role in anterograde transport of membrane proteins from the endoplasmic reticulum to the
    Golgi. May be involved in CASP8-mediated apoptosis

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005102receptor binding ----
    GO:0005515protein binding IPI15024066
         
    BCAP31 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for BCAP31:
     Decreased TP53 protein express 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BCAP31
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    miRNA
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    hsa-mir-29a-3p (MIRT049973), hsa-mir-346 (MIRT042706)

    Block miRNA regulation of human, mouse, rat BCAP31 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate BCAP31:
    hsa-miR-137 hsa-miR-1207-5p
    SwitchGear 3'UTR luciferase reporter plasmidBCAP31 3' UTR sequence
    Inhib. RNA
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    Sino Biological Human cDNA Clone for BCAP31
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BCAP31

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BCAP31


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    BAP31_HUMAN, P51572: 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane5
    cytosol4
    extracellular2
    golgi apparatus2
    mitochondrion2
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005783endoplasmic reticulum IDA--
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005811lipid particle IDA14741744
    GO:0005829cytosol TAS--

    BCAP31 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for BCAP31 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Apoptotic cleavage of cellular proteins
    Apoptotic cleavage of cellular proteins0.74
    Apoptotic execution phase0.74
    2CDK-mediated phosphorylation and removal of Cdc6
    Apoptosis0.38
    3Protein processing in endoplasmic reticulum
    Protein processing in endoplasmic reticulum
    4Apoptosis and Autophagy
    Apoptosis and Autophagy

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for BCAP31
        p70S6K Signaling
    Akt Signaling

    1 Cell Signaling Technology (CST) Pathway for BCAP31
        Apoptosis and Autophagy


    2 Reactome Pathways for BCAP31
        Antigen Presentation: Folding, assembly and peptide loading of class I MHC
    Apoptotic cleavage of cellular proteins


    1 Kegg Pathway  (Kegg details for BCAP31):
        Protein processing in endoplasmic reticulum


    BCAP31 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for BCAP31
    Interactions:

        GeneGlobe Interaction Network for BCAP31

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for BCAP31 (P515721, 2, 3 ENSP000003923304) via UniProtKB, MINT, STRING, and/or I2D (see all 97)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FIS1Q9Y3D61, 2, 3, ENSP000002231364EBI-77683,EBI-3385283 MINT-8143489 MINT-8143644 MINT-8143627 MINT-8143480 MINT-8143498 MINT-8143661 MINT-8143690 MINT-8143706 I2D: score=1 STRING: ENSP00000223136
    CASP8Q147901, 2, 3, ENSP000003512734EBI-77683,EBI-78060 MINT-8143498 MINT-8143512 MINT-8143677 I2D: score=4 STRING: ENSP00000351273
    BCL2P104151, 3, ENSP000003296234EBI-77683,EBI-77694 I2D: score=3 STRING: ENSP00000329623
    CFTRP135691, 3, ENSP000000030844EBI-77683,EBI-349854 I2D: score=1 STRING: ENSP00000003084
    TRAM1Q156291, 3, ENSP000002622134EBI-77683,EBI-1788852 I2D: score=1 STRING: ENSP00000262213
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002474antigen processing and presentation of peptide antigen via MHC class I TAS--
    GO:0006886intracellular protein transport IEA--
    GO:0006915apoptotic process TAS--
    GO:0006921cellular component disassembly involved in execution phase of apoptosis TAS--
    GO:0006955immune response IEA--

    BCAP31 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for BCAP31 (BAP31)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for BCAP31 gene (4 alternative transcripts): 
    NM_001139441.1  NM_001139457.2  NM_001256447.1  NM_005745.7  

    Unigene Cluster for BCAP31:

    B-cell receptor-associated protein 31
    Hs.522817  [show with all ESTs]
    Unigene Representative Sequence: NM_001139457
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000345046(uc004fie.2) ENST00000458587(uc004fid.2 uc011myz.1)
    ENST00000442093 ENST00000429550 ENST00000416815 ENST00000423827 ENST00000430088
    ENST00000468947 ENST00000441714(uc011mza.1)
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate BCAP31:
    hsa-miR-137 hsa-miR-1207-5p
    SwitchGear 3'UTR luciferase reporter plasmidBCAP31 3' UTR sequence
    Inhib. RNA
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    Primer
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    OriGene qPCR primer pairs and template standards for BCAP31
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BCAP31
      QuantiTect SYBR Green Assays in human, mouse, rat BCAP31
      QuantiFast Probe-based Assays in human, mouse, rat BCAP31

    Additional mRNA sequence: 

    AK057613.1 AK125631.1 AK222494.1 AK223059.1 BC014323.1 BC065292.1 X81109.1 Z31696.1 

    Selected DOTS entries (see all 35):

    DT.92462485  DT.453707  DT.92054637  DT.95196388  DT.100683075  DT.121306675  DT.92462488  DT.92001953 
    DT.100683085  DT.100059723  DT.100687660  DT.121306666  DT.121306682  DT.121306626  DT.121306655  DT.100726644 
    DT.100768378  DT.120676048  DT.121306670  DT.100683081  DT.121306622  DT.100683078  DT.100683087  DT.121306647 

    Selected AceView cDNA sequences (see all 1060):

    W74798 CA429876 BX103787 BM727410 BQ933832 CB137234 BM844872 AI401689 
    AI272779 CB137221 AI086514 AW806740 AI075119 BG284376 BQ427839 AI817755 
    CB122325 AI625289 AW376141 BE615217 BM717867 CR621857 AI610161 AI141893 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for BCAP31 (see all 12)    About this scheme

    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:                                            -     -     -     -     -     -     -     -           -                       -                                 

    ExUns: 10a · 10b ^ 11
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for BCAP31

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    BCAP31 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    BCAP31 Expression
    About this image

    BCAP31 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BCAP31 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.522817

    UniProtKB/Swiss-Prot: BAP31_HUMAN, P51572
    Tissue specificity: Ubiquitous

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BCAP31

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for BCAP31 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bcap311 , 5 B cell receptor associated protein 311, 5 88.57(n)1
    91.02(a)1
      X (37.38 cM)5
    270611  NM_012060.41  NP_036190.21 
     736861785 
    chicken
    (Gallus gallus)
    Aves BCAP316
    B-cell receptor-associated protein 31
    59(a)
    1 ↔ 1
    JH375572.1(628-2139)
    lizard
    (Anolis carolinensis)
    Reptilia BCAP316
    B-cell receptor-associated protein 31
    75(a)
    1 ↔ 1
    2(86782841-86836622)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.293222 Xenopus laevis transcribed sequence with moderate similarity more 76.76(n)    CD301399.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sibz30i22.42 sibz30i22.4 75.96(n)   368488  BC049014.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG138871 CG13887 54.69(n)
    43.78(a)
      38096  NM_167843.2  NP_728548.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y54G2A.181 Y54G2A.18 51.7(n)
    42.86(a)
      177072  NM_067866.4  NP_500267.1 


    ENSEMBL Gene Tree for BCAP31 (if available)
    TreeFam Gene Tree for BCAP31 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BCAP31 gene
    BCAP292  
    1 SIMAP similar gene for BCAP31 using alignment to 6 protein entries:     BAP31_HUMAN (see all proteins):
    BCAP29

    BCAP31 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for BCAP31
    PGOHUM00000248844 PGOHUM00000249078


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for BCAP31 (see all 454)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs66437681,2
    C--152833374(+) GCCCCA/TGCCCA 4 -- ds50010--------
    rs1831530881,2
    --152833386(+) TCCCAA/GCCCCT 4 -- ds50010--------
    rs2014075451,2
    C--152833492(+) TCGGG-/CGGGGG 4 -- ds50010--------
    rs2009960001,2
    --152833496(+) GGGGG-/GGGT  
            
    GGGGC
    4 -- ds50010--------
    rs1878740611,2
    --152833499(+) GGGGGA/GGCAGG 4 -- ds50010--------
    rs1896602711,2
    --152833590(+) TACCCC/GGAAGC 4 -- ds50010--------
    rs1132647281,2
    C--152833602(+) CCGCCA/GGTTTA 4 -- ds50010--------
    rs1823385621,2
    --152833994(+) CAAGCC/TGGACT 4 -- ut310--------
    rs1879709671,2
    --152834021(+) CTCCAA/CGCTCA 4 -- ut310--------
    rs1474224101,2
    C--152834076(+) GATGAC/GAGCAA 4 -- ut310--------

    HapMap Linkage Disequilibrium report for BCAP31 (152965947 - 152990201 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for BCAP31:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1003299CNV Gain20482838
    esv33199CNV Gain+Loss17666407
    esv21656CNV Gain+Loss19812545

    Human Gene Mutation Database (HGMD): BCAP31
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BCAP31
    DNA2.0 Custom Variant and Variant Library Synthesis for BCAP31

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300398   
    OMIM disorders: 300475  
    UniProtKB/Swiss-Prot: BAP31_HUMAN, P51572
  • Note=BCAP31 is deleted in the chromosome Xq28 deletion syndrome which involves BCAP31 and the and the
    promoter region of ABCD1

  • 16 diseases for BCAP31:    About MalaCards
    deafness, dystonia, and cerebral hypomyelination    adrenoleukodystrophy    b-cell lymphomas    tonsillitis
    pancreatic cancer    pancreatitis    melanoma    hiv-1
    multiple myeloma    malaria    myeloma    thyroiditis
    cerebritis    neuronitis    prostatitis    endotheliitis


    BCAP31 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    1 Novoseek inferred disease relationship for BCAP31 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adrenoleukodystrophy 57.2 2 7806238 (1), 11992258 (1)


    Export disorders for BCAP31 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for BCAP31 gene, integrated from 10 sources (see all 88):
    (articles sorted by number of sources associating them with BCAP31)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Export of cellubrevin from the endoplasmic reticulum is controlled by BAP31. (PubMed id 9396746)1, 2, 9 Annaert W.G.... Jahn R. (J. Cell Biol. 1997)
    2. 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. (PubMed id 15024066)1, 2, 9 Wang B.... Shore G.C. (Mol. Cell. Biol. 2004)
    3. Caspase-resistant BAP31 inhibits Fas-mediated apoptotic membrane fragmentation and release of cytochrome c from mitochondria. (PubMed id 10958671)1, 2, 9 Nguyen M.... Shore G.C. (Mol. Cell. Biol. 2000)
    4. Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. (PubMed id 11992258)1, 2, 9 Corzo D.... Steinberg S.J. (Am. J. Hum. Genet. 2002)
    5. p28 Bap31, a Bcl-2/Bcl-XL- and procaspase-8-associated protein in the endoplasmic reticulum. (PubMed id 9334338)1, 2, 9 Ng F.W.H.... Shore G.C. (J. Cell Biol. 1997)
    6. A new human gene (DXS1357E) with ubiquitous expression, located in Xq28 adjacent to the adrenoleukodystrophy gene. (PubMed id 7806238)1, 2, 9 Mosser J.... Mandel J.-L. (Genomics 1994)
    7. The specificity of association of the IgD molecule with the accessory proteins BAP31/BAP29 lies in the IgD transmembrane sequence. (PubMed id 8612576)1, 2, 9 Adachi T.... Reth M. (EMBO J. 1996)
    8. The procaspase-8 isoform, procaspase-8L, recruited to the BAP31 complex at the endoplasmic reticulum. (PubMed id 11917123)1, 2, 9 Breckenridge D.G.... Shore G.C. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    9. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10134 HGNC: 16695 AceView: BCAP31 Ensembl:ENSG00000185825 euGenes: HUgn10134
    ECgene: BCAP31 Kegg: 10134 H-InvDB: BCAP31

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for BCAP31 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for BCAP31 gene:
    Search GeneIP for patents involving BCAP31

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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