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FLASH GENE
Symbol ARL6IP1 contributors: mct/npt - updated : 06-01-2016
HGNC name ADP-ribosylation factor-like 6 interacting protein 1
HGNC id 697
Corresponding disease
SPG61 Spastic paraplegia 61
Location 16p12.3      Physical location : 18.802.990 - 18.812.857
Synonym name
  • apoptotic regulator in the membrane of the endoplasmic reticulum
  • ADP-ribosylation factor-like 6 interacting protein
  • addicsin-interacting protein
  • Synonym symbol(s) KIAA0069, AIP1, ARMER, ARL6IP, Aip-1
    DNA
    TYPE functioning gene
    STRUCTURE 9.87 kb     6 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 2280 23 203 - 2003 12754298
    - - 2341 - 174 - 2003 12754298
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivepharynx   highly
    Lymphoid/Immunespleen    
    Nervousbrain   highly
    Respiratorylung    
    Urinarybladder   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Connectivebone   
    Lymphoid    
    cell lineage myeloid progenitor cells
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • four putative transmembrane segments
  • reticulon-like short hairpin transmembrane domains
  • a COOH-terminal KKXX ER retrieval motif
  • HOMOLOGY
    interspecies ortholog to murine Tbx2
    Homologene
    FAMILY
  • ARL6IP family
  • CATEGORY signaling , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic
    text endoplasmic reticulum (ER) integral membrane protein (Lui 2003)
    basic FUNCTION
  • involved in hematopoietic cell maturation
  • ER integral membrane protein which protects cells by inhibiting caspase-9 activity and having a possible role in cell survival (Lui 2003)
  • addicsin-associated partner that indirectly promotes SLC1A1-mediated glutamate transport activity in a protein kinase C activity-dependent manner
  • addicsin-associated partner that promotes SLC1A1-mediated glutamate transport activity by decreasing the number of addicsin molecules available for interaction with SLC1A1
  • anti-apoptotic protein specific to multicellular organisms, is a potential player in shaping the ER tubules in mammalian cells
  • constricted liposomes into tubules
  • has the ability to shape high-curvature ER tubules in a reticulon-like fashion
  • CELLULAR PROCESS cell life, differentiation
    cell life, antiapoptosis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to ARL6
  • bound directly to addicsin and the hydrophobic region located at amino acids 103-117 of addicsin was crucial to the formation of the ARL6IP1-addicsin heterodimer and addicsin homodimer (Akiduki 2008)
  • binds to atlastin, a GTPase that mediates the formation of the tubular ER network
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SPG61
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS