Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol BCAP31 contributors: mct/npt/pgu/shn - updated : 07-06-2013
HGNC name B-cell receptor-associated protein 31
HGNC id 16695
Corresponding disease
DDCH deafness, dystonia, and central hypomyelination
Location Xq28      Physical location : 152.965.946 - 152.990.201
Synonym name
  • likely ortholog of mouse B-cell receptor-associated protein 31
  • accessory proteins BAP31/BAP29
  • 6C6-AG tumor-associated antigen
  • BCR-associated protein Bap31
  • p28 Bap31
  • Synonym symbol(s) CDM, BAP31, 6C6mAB, DXS1357E, 6C6-AG
    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
    Physical map
    LOC392559 X similar to hypothetical protein MGC15827 LOC139735 Xq28 similar to zinc finger protein 92 TREX2 Xq28 three prime repair exonuclease 2 LOC389904 X similar to Extracellular matrix protein 2 precursor (Matrix glycoprotein SC1/ECM2) BGN Xq28 biglycan ATP2B3 Xq28 ATPase, Ca++ transporting, plasma membrane 3 MGC29729 Xq28 hypothetical protein MGC29729 LOC340598 Xq28 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) DUSP9 Xq28 dual specificity phosphatase 9 LOC347544 Xq28 similar to ribosomal protein L18a; 60S ribosomal protein L18a MGC45419 Xq28 Similar to calcium/calmodulin-dependent protein kinase 1, beta SLC6A8 Xq28 solute carrier family 6 (neurotransmitter transporter, creatine), member 8 BCAP31 Xq28 solute carrier family 6 (neurotransmitter transporter, creatine), member 8 ABCD1 Xq28 ATP-binding cassette, sub-family D (ALD), member 1 PLXNB3 Xq28 plexin B3 STK23 Xq28 serine/threonine kinase 23 IDH3G Xq28 isocitrate dehydrogenase 3 (NAD+) gamma SSR4 Xq28 signal sequence receptor, delta (translocon-associated protein delta) KIAA1444 Xq28 LU1 protein HCP45 Xq28 cytochrome c, somatic pseudogene L1CAM Xq28 L1 cell adhesion molecule (hydrocephalus, stenosis of aqueduct of Sylvius 1, MASA (mental retardation, aphasia, shuffling gait and adducted thumbs) syndrome, spastic paraplegia 1) AVPR2 Xq28 arginine vasopressin receptor 2 (nephrogenic diabetes insipidus) ARHGAP4 Xq28 Rho GTPase activating protein 4 ARD1 Xq28 ARD1 homolog, N-acetyltransferase (S. cerevisiae) RENBP Xq28 renin binding protein HCFC1 Xq28 host cell factor C1 (VP16-accessory protein) CXorf12 Xq28 chromosome X open reading frame 12 IRAK1 Xq28 interleukin-1 receptor-associated kinase 1
    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