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FLASH GENE
Symbol ARCN1 contributors: mct - updated : 19-09-2016
HGNC name archain 1
HGNC id 649
Corresponding disease
MGMD micrognathia, short stature, microcephalic dwarfism
Location 11q23.3      Physical location : 118.443.101 - 118.473.745
Synonym name
  • archain vesicle transport protein 1
  • coatomer protein complex, subunit delta
  • delta-coat protein
  • coatomer protein delta-COP
  • Synonym symbol(s) COPD
    DNA
    TYPE functioning gene
    STRUCTURE 30.65 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    MSP 11q23 mosaic serine protease IL10RA 11q23.3 interleukin 10 receptor, alpha TMPRSS4 11q23.3 transmembrane protease, serine 4 SCN4B 11q23.3 sodium channel, voltage-gated, type IV, beta SCN2B 11q23 sodium channel, voltage-gated, type II, beta AMICA 11q23.3 adhesion molecule AMICA LOC196264 11q23.3 hypothetical protein LOC196264 EVA1 11q24 epithelial V-like antigen 1 CD3E 11q23.3 CD3E antigen, epsilon polypeptide (TiT3 complex) LOC390254 11 similar to carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5; N-acetylglucosamine 6-O-sulfotransferase; I-GLCNAC-6-ST CD3D 11q23.3 CD3D antigen, delta polypeptide (TiT3 complex) CD3G 11q23.3 CD3G antigen, gamma polypeptide (TiT3 complex) UBE4A 11q23.3 ubiquitination factor E4A (UFD2 homolog, yeast) ATP5L 3q27 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit g MGC13053 11q23.3 hypothetical protein MGC13053 MLL 11q23 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) FLJ11783 11q23.3 hypothetical protein FLJ11783 LOC143941 11q23.3 similar to CDNA sequence BC021608 FLJ14399 11q23.3 hypothetical protein FLJ14399 FLJ21827 11q23.3 hypothetical protein FLJ21827 ARCN1 11q23.3 archain 1 KIAA0638 11q23.3 archain 1 TREH 11q23.3 trehalase (brush-border membrane glycoprotein) DDX6 11q23.3 DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 LOC338656 11q23.3 similar to protein phosphatase 2A inhibitor-2 I-2PP2A BLR1 11q23.3 Burkitt lymphoma receptor 1, GTP binding protein (chemokine (C-X-C motif) receptor 5) BCL9L 11q23.3 B-cell CLL/lymphoma 9-like UPK2 11q23 uroplakin 2 LOC283150 11q23.3 hypothetical protein LOC283150 DLNB14 11q23.3 similar to DLNB14 RPS25 11q23.3 ribosomal protein S25 TRAPPC4 11q23.3 trafficking protein particle complex 4 SLC37A4 11q23.3 solute carrier family 37 (glycerol-6-phosphate transporter), member 4 HYOU1 11q23.1-q23.3 hypoxia up-regulated 1 VPS11 11q23 vacuolar protein sorting 11 (yeast) HMBS 11q23.3 hydroxymethylbilane synthase
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 4032 57.2 511 - 2012 23300798
    9 - 3768 - 423 - 2012 23300798
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Endocrinepancreas    
    Nervousbrain    
    Reproductivemale systemprostate   
    Urinarykidney    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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)