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FLASH GENE
Symbol MVB12A contributors: mct - updated : 20-01-2021
HGNC name multivesicular body subunit 12A
HGNC id 25153
Location 19p13.11      Physical location : -
Synonym name
  • CIN85/CD2AP family binding protein
  • protein FAM125A
  • ESCRT-I complex subunit MVB12A
  • family with sequence similarity 125, member A
  • multivesicular body subunit 12A
  • Synonym symbol(s) FLJ32495, CFBP, FLJ18422, FLJ31061, FAM125A
    DNA
    TYPE functioning gene
    STRUCTURE 19.59 kb     9 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 1216 28 273 - 2010 20654576
    10 - 1322 - 181 - 2010 20654576
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunetonsils   highly
    Reproductivefemale systemuteruscervix  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a proline-rich motif recognized by one of the three Src-homology 3 domains of SH3KBP1/CD2AP)
  • HOMOLOGY
    interspecies ortholog to murine 1110012M11Rik
    Homologene
    FAMILY
  • FAM125 family
  • CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytosolic,vesicle
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,nucleus,nucleoplasm
    text co-localized at the centrosome
    basic FUNCTION
  • may be playing a key role in the ligand-mediated internalization and down-regulation of the EGF receptor
  • with FAM125B, play a unique role in regulating ESCRT-mediated virus budding
  • tyrosine-phosphorylated protein involved in the aggregation-prone proteins of FAM125B
  • with FAM125B, have various biological roles within ESCRT-I, including their relationships to processes as endocytosis, virus budding, and cellular cytokinesis
  • its function is to promote the downregulation of EGF receptors that are recognized as a cargo protein
  • selective association between MVB12A, MVB12B and VPS37 subunit family members generates distinct ESCRT-I complexes that correlate with different biological activities
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • ESCRT-I complexes contain one copy of each of the four subunit types: UBAP1, MVB12A, MVB12B subunits associate with the core region of the binary TSG101-VPS37 complex through conserved C-terminal sequence elements
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ubiquitin-binding protein interacting with TSG101
  • UBAP1 is important for MVB12A, MVB12B sorting and degradation of ubiquitylated endosomal cargoes, including EGFR, but not for cytokinesis or retroviral budding
  • cell & other
    REGULATION
    Other phosphorylated at tyrosine 204 upon EGF stimulation
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS