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FLASH GENE
Symbol HS1BP3 contributors: mct - updated : 29-08-2022
HGNC name HCLS1 binding protein 3
HGNC id 24979
Corresponding disease
ETM2 essential tremor susceptibility locus 2
Location 2p24.1      Physical location : 20.817.563 - 20.850.864
Genatlas name hematopoietic-specific protein 1 binding protein 3
Synonym name
  • HS1-binding protein 3
  • Synonym symbol(s) ETM2, FLJ14249, HS1-BP3
    DNA
    TYPE functioning gene
    STRUCTURE 97.24 kb     7 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 2383 - 392 - 2016 28004827
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivesalivary gland   predominantly
    Skin/Tegumentskin   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to murine Hs1bp3
    Homologene
    FAMILY
    CATEGORY immunity/defense
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,nucleus
    basic FUNCTION
  • may be involved in lymphocyte activation
  • playing a putative role in regulating catecholamine and serotonin metabolism
  • is a negative regulator of autophagosome formation
  • is proposed to act by inhibiting PLD1 (phospholipase D1) activity and localization to ATG16L1
  • provides a novel mechanism of negative autophagy regulation through membrane lipids
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • HS1BP3 regulates apoptosis via HCLS1 and stimulates JUN-mediated transcription
  • inhibits autophagy by regulation of PLD1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ETM2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS