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FLASH GENE
Symbol MIA3 contributors: mct/npt - updated : 05-12-2018
HGNC name MIA SH3 domain ER export factor 3
HGNC id 24008
Location 1q41      Physical location : 222.791.443 - 222.841.350
Synonym name
  • C219 reactive peptide
  • protein TANGO
  • transport and Golgi organization protein 1
  • melanoma inhibitory activity family, member 3
  • Synonym symbol(s) RP11-378J18.4, ARNT, FLJ21469, FLJ39207, KIAA0268, TANGO, UNQ6077, FLJ39207, TANGO1
    DNA
    TYPE functioning gene
    STRUCTURE 49.91 kb     28 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    28 - 8123 - 1907 - 2017 28442536
    29 - 8171 - 1743 - 2017 28442536
    29 - 8198 - 1931 - 2017 28442536
    26 - 7946 - 1848 - 2017 28442536
    24 - 4996 - 809 - 2017 28442536
    23 - 4924 - 785 - 2017 28442536
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivepharynx   highly
    Hearing/Equilibriumear   highly
    Lymphoid/Immunethymus   highly
    Reproductivemale systemprostate  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a luminal SH3 domain, binding to collagen VII (Saito 2009)
  • C-terminal cytoplasmic proline-rich domain PRD can bind to Sec23 and Sec24 (Saito 2009), and C-terminal, proline-rich domains of MIA3 molecules in the ring are initially tilted onto COPII coats but appear to be pushed apart as the carrier grows
  • HOMOLOGY
    Homologene
    FAMILY
  • MIA/OTOR family
  • melanoma inhibitory activity (MIA) gene family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    text integral membrane protein localized to endoplasmic reticulum (ER) exit sites (Saito 2009)
    basic FUNCTION
  • ligand for ITGAX, regulating migratory processes of hematopoietic cells
  • tumor suppressor role of TANGO gene in human malignant melanoma
  • is required for the secretion of fully folded trimeric collagen VII (Saito 2009)
  • joint action of MIA3 and TRAPPC2 sustained the ER export of Procollagen (PC), and its derangement may explain the defective chondrogenesis underlying SEDL
  • MIA3 and RAB10 are planar polarized at the basal epithelial surface
  • MIA2 and MIA3 have a tumour-suppressive function in several malignancies
  • is thus pivotal in concentrating procollagen VII in the lumen and recruiting ERGIC membranes on the cytoplasmic surface of the ER
  • located at the ER exit site is necessary for procollagen export
  • is critical for fibrogenesis through mediating hepatic stellate cells (HSCs) homeostasis
  • spatially organizes ER exit sites to control ER export
  • at the ER, assembles in a ring that encircles COPII components
  • mammalian ER exit sites are organized by MIA3 acting as a scaffold, in cooperation with SEC16A for efficient secretion
  • maintenance of ER/Golgi architecture and bulky cargo transport are the primary functions for MIA3
  • enables ER-to-Golgi trafficking of large proteins
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • MIA2 forms a complex with MIA3, a previously characterized cargo receptor for collagen VII, by the interaction of their coiled-coil motifs
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ligand for ITGAX
  • MIA3 recruited TRAPPC2, a TRAPP component and TRAPPC2 was required for the ER export of Procollagen (PC)
  • PREB recruitment to ER exit sites is organized by its direct interaction with MIA2, a previously characterized collagen cargo receptor component, which functions together with MIA3 at ER exit sites
  • specific requirement for MIA2 in assisting MIA3 to export bulky lipid particles
  • recruits ERGIC (ER Golgi Intermediate Compartment (ERGIC)) membranes to the endoplasmic reticulum for procollagen export
  • ADTRP positively regulates PIK3R3 expression, which leads to activation of AKT1 and up-regulation of MIA3, thereby regulating endothelial cell functions directly relevant to atherosclerosis
  • MIA3 recruits membrane-bound macromolecular complexes consisting of MIA2 and PREB to the ER exit sites
  • MIA2/MIA3 complex interacts with the GEF and the GAP of SAR1A and tightly regulates its GTPase cycle to accomplish large cargo secretion
  • cell & other
    REGULATION
    induced by after adhesion of human monocytic cells to substrate
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in colon and hepatocellular carcinoma
    tumoral     --low  
    in melanomas
    tumoral     --other  
    was strongly associated with tumour progression, nodal metastasis, clinical stage and number of blood or lymph vessels in in oral squamous cell carcinoma
    Susceptibility to coronary artery disease (CAD)
    Variant & Polymorphism SNP
  • SNP rs17465637 in MIA3 is indeed a genetic risk factor for CAD across different ethnic populations
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS