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FLASH GENE
Symbol ACACA contributors: mct - updated : 07-06-2016
HGNC name acetyl-Coenzyme A carboxylase alpha
HGNC id 84
Corresponding disease
ACACA Acetyl-CoA carboxylase deficiency
Location 17q12      Physical location : 35.441.927 - 35.766.902
Synonym name
  • acetyl-CoA carboxylase 1
  • ACC-alpha
  • Synonym symbol(s) ACAC, ACC, ACC1, ACCA
    EC.number 6.4.1.2, 6.3.4.14
    DNA
    TYPE functioning gene
    SPECIAL FEATURE head to head
    text oriented head to head with TADA2L
    STRUCTURE 324.98 kb     60 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure
  • multiple promoters
  • bidirectinal promoter coregulating transcripts derived from TADA2L and ACACA
  • MAPPING cloned Y linked N status confirmed
    Physical map
    CCL18 17q11.2 chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated) CCL3 17q11.2 chemokine (C-C motif) ligand 3 CCL4 17q11.2 chemokine (C-C motif) ligand 4 LOC388368 17 similar to TBC1 domain family member 3 (Rab GTPase-activating protein PRC17) (Prostate cancer gene 17 protein) (TRE17 alpha protein) LOC388369 17 LOC388369 LOC388370 17 similar to cytokine LOC388371 17 similar to TBC1 domain family member 3 (Rab GTPase-activating protein PRC17) (Prostate cancer gene 17 protein) (TRE17 alpha protein) LOC390788 17 similar to CCL3L1 protein CCL3L1 17q11.2 chemokine (C-C motif) ligand 3-like 1 LOC388372 17 similar to cytokine LOC388373 17 similar to TBC1 domain family member 3 (Rab GTPase-activating protein PRC17) (Prostate cancer gene 17 protein) (TRE17 alpha protein) LOC388374 17 similar to TBC1 domain family member 3 (Rab GTPase-activating protein PRC17) (Prostate cancer gene 17 protein) (TRE17 alpha protein) TRIP3 17q21.1 thyroid hormone receptor interactor 3 FLJ22865 17q21.1 hypothetical protein FLJ22865 PIGW 17q21.1 phosphatidylinositol glycan, class W LZK1 17q21.1 C3HC4-type zinc finger protein MGC4172 17q21.1 hypothetical protein MGC4172 FLJ22578 17q21.1 hypothetical protein FLJ22578 LOC388375 17 LOC388375 LOC388376 17 LOC388376 LHX1 11p13-p12 LIM homeobox protein 1 AATF 17q11.2-q12 apoptosis antagonizing transcription factor ACACA 17q21 acetyl-Coenzyme A carboxylase alpha FLJ39647 17q21.1 hypothetical protein FLJ39647 TADA2L 17q12-q21 transcriptional adaptor 2 (ADA2 homolog, yeast)-like DUSP14 17q12 dual specificity phosphatase 14 AP1GBP1 17p13.2 AP1 gamma subunit binding protein 1 DDX52 17q21.1 DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 TCF2 17q11.2-q12 transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor LOC388377 17 similar to MLL/AF10 fusion protein UPN9610I LOC388378 17 similar to TBC1 domain family, member 3; Rab GTPase-activating protein PRC17; prostate cancer gene 17
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    56 - 10018 269 2383 - 2005 15607423
    56 - 9585 - 2346 - 2005 15607423
    an alternate 5' UTR exon
    60 - 10692 - 2346 - 2005 15607423
    several additional exons in the 5' region, has a shorter N-terminus
    54 - 9655 - 2288 - 2005 15607423
    alternate 5' sequence
    55 - 9766 - 2268 - 2005 15607423
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
    Nervousbrain    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    conjugated PhosphoP
    HOMOLOGY
    Homologene
    FAMILY
  • biotin containing enzyme family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleolus
    basic FUNCTION
  • acetyl-CoA carboxylase alpha, biotin dependent
  • catalyzing the synthesis of malonyl-CoA, an intermediate substrate playing a pivotal role in the regulation of fatty acid metabolism and energy production
  • major regulatory enzyme of fatty acid biosynthesis
  • crucial roles in de novo fatty acid biosynthesis and lipogenesis and essential for cancer cell survival
  • involved in the biosynthesis of fatty acids, and malonyl-CoA produced is used as a building block to extend the chain length of fatty acids by fatty acid synthase (FAS)
  • with FABP2 are both key factors of lipogenesis and transport
  • essential role for ACACA-mediated de novo lipogenesis as a regulator of CD8(+) T cell expansion
  • ACACA and ACLY regulate the levels of ETV4 under hypoxia via increased alpha-ketoglutarate
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism energetic , lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • biotin
  • protein
  • interacting with BRCT domain of BRCA1, and affecting lipogenesis
  • regulated at a tertiary level by MID1IP1, which facilitates ACACA polymerization and enhances enzymatic activity
  • PRKAA1 might regulate NADPH homeostasis by inhibiting ACACA and ACACB
  • PRKAA1-mediated inhibition of ACACA is required to maintain the NADPH and reactive oxygen species levels after matrix detachment
  • renin synthesis and secretion are regulated by PRKAA1 and coupled to metabolism by phosphorylation of ACACA
  • cell & other
    REGULATION
    activated by SREBF1 in lipogenesis (activating number of enzyme genes, such as FASN or ACACA, that are involved in this pathway at the transcriptional level
    Other phospho/dephosphorylation
    ASSOCIATED DISORDERS
    corresponding disease(s) ACACA
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    with the decreased expression of PRKAB1 and overexpression of MLYCD are important regulators of the maturation of fatty acid oxidation in the newborn heart
    Susceptibility to breast cancer
    Variant & Polymorphism other ACACA polymorphism increasing breast cancer risk
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS