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FLASH GENE
Symbol BCAP31 contributors: mct/npt/pgu/shn - updated : 07-06-2013
HGNC name B-cell receptor-associated protein 31
HGNC id 16695
DNA
TYPE functioning gene
STRUCTURE 24.25 kb     8 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Binding site
MAPPING cloned Y linked N status provisional
Map cen - DXS8061 - DXS808 - BCAP321 - DXS1073 - qter
RNA
TRANSCRIPTS type messenger
text Variants 2 and 3 encode the same protein
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
8 - 1821 34.6 313 - 2008 18555783
8 - 1417 27.9 246 - 2008 18555783
8 - 1346 27.9 246 - 2008 18555783
8 - 1647 - 246 - 2008 18555783
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivestomach   highly
Endocrineadrenal gland   highly
 parathyroid   highly
Nervousbrain     Homo sapiens
Reproductivefemale systemovary  highly
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES Hydrophilic Hydrophobic
STRUCTURE
motifs/domains
  • N terminal hydrophobic region multiple membrane-spanning domains
  • three transmembrane domains
  • hydrophilic extracellular non glycosylated C terminal region with a KKXX coat protein I binding motif
  • mono polymer complex
    HOMOLOGY
    interspecies ortholog to Bcap31, Mus musculus
    ortholog to bcap31, Danio rerio
    ortholog to Bcap31, Rattus norvegicus
    Homologene
    FAMILY
  • BCAP29/BCAP31 family
  • CATEGORY chaperone/stress , antigen , protooncogene
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    text integral membrane protein of the endoplasmic reticulum
    basic FUNCTION
  • involved in the mitochondrion-endoplasmic reticulum cross talk through a Ca2+ dependent mechanism, via the generation of BAP20 by cleavage
  • putative cargo receptor protein BCAP31 participates in the transport and the quality control of human class I molecules
  • cargo receptor for ER export of some transmembrane proteins, especially those prone to (ER)-associated degradation (ERAD)
  • operates at early steps to deliver newly synthesized CFTR DeltaF508 to its degradation pathway
  • required to maintain PTPLB
  • role in the export of secreted proteins from the ER, the recognition of abnormally folded proteins, and their targeting to the ER-associated-degradation (ERAD) pathway
  • implicated in export of MHC class I molecules from the ER
  • involved in the control of maturation or trafficking of cystic fibrosis transmembrane conductance regulator
  • playing an important role in apoptosis, as a regulator of procaspase-8 processing and as a cleavage target of caspase-8
  • may play a role in regulating intracellular trafficking of ITGAM in neutrophils
  • essential for SV40 infection, required in a step after transport of the SV40 virus to the endoplasmic reticulum lumen, and after isomerization of disulphide bonds
  • required for dislocation of SV40 from the endoplasmic reticulum to the cytosol
  • the most abundant endoplasmic reticulum (ER) membrane protein
  • chaperone protein involved in several pathways, including ER-associated degradation, export of ER proteins to the Golgi apparatus, and programmed cell death
  • important role in ER-to-Golgi crosstalk
  • CDIP1/BCAP31-mediated regulation of mitochondrial apoptosis pathway represents a mechanism for establishing an ER-mitochondrial crosstalk for ER-stress-mediated apoptosis signaling 1)
  • CELLULAR PROCESS cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS immunity/defense , cellular trafficking transport
    PATHWAY
    metabolism
    signaling
    a component
  • part of a large hetero-oligomeric complex at he ER membrane
  • constituent of several large protein complexes
  • component of the ER quality control compartment and that it moves between the peripheral ER and a juxtanuclear ER or ER-related compartment distinct from the conventional ER-Golgi intermediate compartment
  • FIS1-BCAP31 complex (ARCosome) spanning the mitochondria-ER interface serves as a platform to activate the initiator procaspase-8, and thereby bridges two critical organelles for apoptosis signalling
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • Cellubrevin
  • Bcl-2/Bcl-XL and procaspase-8
  • procaspase-8L
  • A4 protein
  • amma-actin and myosin B heavy chain
  • BAP29
  • bifunctional apoptosis regulator, BAR
  • protein tyrosine phosphatase-like B, PTPLB
  • caspase 8
  • CD11b/CD18
  • SEC61B and TRAM1
  • DERL1
  • Sec61
  • HPV E5 proteins
  • class I MHC molecules
  • MARCH proteins
  • Fission 1 homologue, Fis1
  • N-terminal peptide of VP2
  • BCAP31 is an interacting partner of CDIP1
  • cell & other
    REGULATION
    activated by cleavage by CASP8, generating the proapoptotic BAP20
    ASSOCIATED DISORDERS
    corresponding disease(s) DDCH
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in breast cancer cells
    constitutional        
    loss of BCAP31 is potentially related to liver dysfunction and hearing loss
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS