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FLASH GENE
Symbol ATXN1L contributors: KTN/npt/shn - updated : 13/12/2011
HGNC name ataxin 1-like
HGNC id 33279
DNA
TYPE functioning gene
STRUCTURE 39.28 kb     1 Exon(s)
MAPPING cloned Y linked N status confirmed
Map cen - D16S3095 - D6S1005 - ATXN1L - D16S3106 - D16S3059 - qter
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
3 splicing 7895 - 689 - -
5 splicing 483
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivemouth   moderately
Endocrineparathyroid   predominantly
Respiratorylung   moderately
Urinarykidney   highly
Visualeye   moderately
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectiveadipose  highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an AXH domain
  • mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to dog ATXN1L (96.4 pc)
    homolog to chimpanzee ATXN1L (99.8 pc)
    homolog to cow ATXN1L (93 pc)
    homolog to murine Atxn1l (93.9 pc)
    Homologene
    FAMILY
  • ATXN1 family
  • CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    text
  • dendrite
  • colocalized with NCOR2 and HDAC3
  • basic FUNCTION
  • can supresse the cytotoxicity of ATXN1 in spinocerebellar ataxia type 1 (SCA1)
  • component of the Notch signalling pathway (
  • might participate in several Notch-controlled developmental and pathological processes (
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
  • promoter region of Hey1 (
  • RNA
    small molecule
    protein
  • CIC
  • NCOR2 via its AXH domain
  • ataxin 1, ATXN1 (
  • CBF1 (
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS