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FLASH GENE
Symbol ARCN1 contributors: mct - updated : 19-09-2016
HGNC name archain 1
HGNC id 649
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a MHD (mu homology) domain
    • HOMOLOGY
    interspecies homolog to DNA sequences from Drosophila and murine
    Homologene
    FAMILY
  • adaptor complexes medium subunit family
  • delta-COP subfamily
    • CATEGORY adaptor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic,vesicle
    text co-localized with Golgi and ER (Xu 2010)
    basic FUNCTION
  • may be involved in vesicle structure or trafficking
  • delta subunit of the coat protein I (COPI) complex required for intracellular trafficking (Xu 2010)
  • involved in ER–Golgi and/or intra-Golgi trafficking in melanocytes (Xu 2010)
  • encodes the coatomer subunit delta of COPI
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds to dilysine motifs and reversibly associates with golgi non- clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the golgi up to the trans golgi network
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MGMD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    causes diluted coat color and Purkinje cell degeneration
    Susceptibility to glioma
    Variant & Polymorphism other
  • locus within the ARCN1 gene, associated with a significantly reduced risk for glioma
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mutation in Arcn1 is responsible for the phenotypes in an ENU-induced mouse mutant, nur17, identified by screening for mice with both diluted coat color and ataxia (Xu 2010)