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FLASH GENE
Symbol ATN1 contributors: mct - updated : 15-05-2019
HGNC name atrophin 1
HGNC id 3033
DNA
TYPE functioning gene
STRUCTURE 17.86 kb     10 Exon(s)
motif repetitive sequence   triplet
text structure an amplified CAG repeat
MAPPING cloned Y linked Y status confirmed
RNA
TRANSCRIPTS type messenger
text variants 1 and 2 encode the same protein
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
10 - 4367 125 1190 - 2005 16091834
10 - 4360 125 1190 - 2005 16091834
differs in the 5' UTR
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart     Homo sapiens
Nervousbrainlimbic systemhippocampus highly Homo sapiensAdult
 brainbasal nucleicorpus callosum   Homo sapiensAdult
 braindiencephalonhypothalamus   Homo sapiensAdult
 brainhindbraincerebellum highly Homo sapiensAdult
 brain   predominantly Homo sapiensFetal
Reproductivemale systemtestis  highly
 male systemprostate  highly
Respiratorylung     Homo sapiens
Urinarykidney     Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Lymphoid    
Muscularstriatumskeletal   Homo sapiens
Nervouscentral   
Nervousperipherous   
cells
SystemCellPubmedSpeciesStageRna symbol
Blood/Hematopoieticleukocyte
Nervousneuron
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • five PY motifs
  • one at the end of the proline repeat
  • two between the proline and glutamine repeats
  • two between glutamine repeats
  • the region of alternating acidic and basic residues with several truncated forms
  • a repeat of a polyglutamine stretch encoded by CAG repeat
  • an Atro-box
  • C-terminal fragment playing a principal role in the pathological accumulation of ATN1 in dentatorubral-pallidoluysian atrophy , C-terminal part of ATN1, conserved 16-amino-acid "HX repeat" motif (residues 10491065)
  • HOMOLOGY
    interspecies homolog to murine Drpla
    homolog to Drosophila atrophin
    Homologene
    FAMILY Atrophin family proteins
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm
    intracellular,nuclear envelope,matrix attachement regions
    basic FUNCTION
  • ATN1 and the short form of RERE, can act as potent and evolutionarily conserved transcriptional activators
  • FAT1 and ATRS (ATN1 and RERE), act in concert after vascular injury but show further that distinct Atr isoforms have disparate effects on vascular smooth muscle cells directional migration
  • expanded polyQ repeats in ATN1 may contribute to neurodegeneration via alterations in both protein aggregation and intracellular localization
  • critical role of the ATN1 HX repeat motif in the control of human embryonic development
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    text central nervous system development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • SH3 domain of BAIAP2 binding, RERE
  • FAT1 interacted with both ATN1 and ATN2 (these interactions required FAT1 AAs 4300-4400 and an intact Atro-box in the ATNs)
  • interactions between FAT1 and Atrophins (ATN1, RERE) might contribute to FAT1 effects on vascular smooth muscle cells
  • involvement of KDM1A in ATN1 expression and neuronal progenitor cell (NPC) maintenance
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DRPLA , CHEDDA
    Susceptibility
    Variant & Polymorphism repeat
  • disorder related to the expansion of a trinucleotide CAG repeats (7 to 23 in normal population and 49 to 75 patients)
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • C-terminal deletion of the atrophin-1 protein results in growth retardation but not neurodegeneration in mice