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FLASH GENE
Symbol HACD1 contributors: mct - updated : 04-02-2020
HGNC name 3-hydroxyacyl-CoA dehydratase 1
HGNC id 9639
Corresponding disease
CNM7 centronuclear myopathy-7
Location 10p12.33      Physical location : -
Synonym name
  • protein tyrosine phosphatase-like, member a
  • cementum attachment protein
  • protein tyrosine phosphatase-like (proline instead of catalytic arginine), member a
    • Synonym symbol(s) PTPLA, CAP
    DNA
    TYPE functioning gene
    STRUCTURE 28.34 kb     7 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 2234 - 288 - 2017 28784662
    - - 1435 - 140 expression was limited to cementum cells 2012 22067203
  • N-terminal 125 amino acids are identical to those of HACD1
  • results from a read-through of the HACD1 exon 2 splice donor site, truncating after the second putative transmembrane domain
    • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver    
     mouthtoothcement   Homo sapiens
    Reproductivemale systemtestis   
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text in the developing heart, liver, lung, skeletal muscle
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • leucine and valine rich domains
  • a N terminal nuclear localization signal (NLS)
  • a catalytic motif with a proline instead of an arginine
    • HOMOLOGY
    interspecies homolog to murine Ptpla
    Homologene
    FAMILY
    CATEGORY enzyme , signaling
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • playing a role in differentiation and maintenanec of tissue types (myogenesis and cardiogenesis)
  • HACD1 is necessary for muscle function
  • is very effective at inducing bone repair and healing
  • involved in the elongation of the very long chain fatty acids, in muscle fibre formation
  • HACD1 promotes myoblast fusion during muscle development and regeneration
  • is a key regulator of a lipid-dependent muscle fibre growth mechanism
  • has a role in early myogenesis, and in maintaining skeletal muscle membrane systems
  • HACD1 and HACD2 exhibit redundant activities in a wide range of fatty acids (FAs) elongation pathways, including those for saturated to polyunsaturated FAs, with HACD2 being the major 3-hydroxyacyl-CoA dehydratase
    • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • regulates myoblast proliferation and differentiation through MYOG and the cell cycling signaling pathway
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CNM7
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS