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FLASH GENE
Symbol ATL1 contributors: mct/shn - updated : 09-09-2013
HGNC name atlastin GTPase 1
HGNC id 11231
DNA
TYPE functioning gene
STRUCTURE 99.99 kb     14 Exon(s)
MAPPING cloned Y linked N status provisional
Map cen - D14S984 - D14S1031 - ATL1 - D14S978 - D14S1018 - qter
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
14 splicing 2652 63 558 Highly in brain; moderately in smooth skeletal, adrenal gland, kidney and testis and lowly in lung 2008 14506257
13 splicing 2637 - 553 - 2008 18446315
14 splicing 2821 - 553 - 2008 18446315
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
cells
SystemCellPubmedSpeciesStageRna symbol
Nervouspyramidal cell
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text brain
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N terminal GTPase domain
  • a predominant helical domain
  • guanylate binding domain
  • C-terminal hydrophobic domains necessary and sufficient for membrane localization
    • mono polymer tetramer , oligo
    HOMOLOGY
    interspecies ortholog to Atl1, Mus musculus
    ortholog to ATL1, Pan troglodytes
    ortholog to atl1, Danio rerio
    ortholog to Atl1, Rattus norvegicus
    intraspecies homolog to GBP1
    Homologene
    FAMILY dynamin/Mx/guanylate-binding protein superfamily of large GTPases
    CATEGORY enzyme , signaling neurotransmitter
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    text
  • Golgi apparatus, predominantly in cis-Golgi
  • localized in the endoplasmic reticulum, the Golgi, neurites and growth cones and has been implicated in neurite outgrowth
  • anchored in the membrane by two closely spaced transmembrane segments, exposing both the GTPase domain and the C-terminal tail to the cytosol (
    • basic FUNCTION
  • may be involved in Golgi membrane dynamics or vesicle trafficking
  • playing a functional role in axonal development
  • dynamin-like large GTPase, playing a role in vesicle trafficking in the ER/Golgi interface
  • coordinates endoplasmic reticulum shaping and microtubule dynamics
  • co-overexpression of ATL1 and REEP1, generates large Lipid droplets (LDs)
  • atlastin-mediated fusion of ER membranes is important for Lipid droplets (LDs) size regulation
  • regulates dendritic morphogenesis which depends on its GTPase activity
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • GDP-bound ATL1 dimer is an intermediate during the fusion reaction (GTP-dependent dimer formation may link ATL1 molecules in apposing membranes during the first step in membrane fusion)
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • C-terminal regulatory domain of NIK/HGK
  • ATL1
  • with ATL1 and SPAST, interact within the tubular ER membrane in corticospinal neurons to coordinate ER shaping and microtubule dynamics
  • ZFYVE27 interact with other hereditary spastic paraplegia-related proteins including myelin proteolipid protein 1 (PLP1), atlastin-1 (ATL1), REEP1, REEP5 (similar to REEP1), KIF5A, KIF5B, KIF5C
    • cell & other tubular endoplasmic reticulum membrane in corticospinal neurons
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SPG3A
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Depletion of the atlastins or overexpression of dominant-negative forms inhibits tubule interconnections of the endoplasmic reticulum
  • mouse cultured cortical neurons, overexpressing ATL1 increased dendrite growth and arborization, while HSP-associated mutant R217Q had no such effects