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FLASH GENE
Symbol ACACB contributors: mct/npt/shn - updated : 07-06-2016
HGNC name acetyl-CoA carboxylase beta
HGNC id 85
Location 12q24.11      Physical location : 109.577.201 - 109.706.028
Synonym name
  • acetyl-Coenzyme A carboxylase beta
  • ACC-beta
  • acetyl-CoA carboxylase 2
  • Synonym symbol(s) ACC2, ACCB, HACC275, COA2
    EC.number 6.3.4.14, 6.4.1.2
    DNA
    TYPE functioning gene
    STRUCTURE 128.83 kb     52 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure . two promoters, P-I and P-II, control the transcription of the ACCbeta gene
  • promoter P-I, active in the skeletal muscle and heart but not in the liver, could be activated by myogenic regulatory factors and retinoid X receptors in a synergistic manner
  • proximal myogenic regulatory factor-binding sites in P-II,
  • MAPPING cloned Y linked N status confirmed
    Map cen - D12S1637 - D12S105 - ACACB - D12S1583 - D12S1645 - qter
    Physical map
    PWP1 12q24.11 nuclear phosphoprotein similar to S. cerevisiae PWP1 PRDM4 12q23-q24.1 PR domain containing 4 ASCL4 12q24.11 class II bHLH protein ASCL4 LOC390358 12 similar to RET finger protein-like 3 LOC390359 12 similar to programmed cell death 2 isoform 2; zinc finger protein Rp-8; programmed cell death 2/Rp8 homolog KIAA0789 12q24.11 similar to programmed cell death 2 isoform 2; zinc finger protein Rp-8; programmed cell death 2/Rp8 homolog LOC196469 12q24.11 similar to apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G; phorbolin-like protein MDS019 CMKLR1 12q24.1 chemokine-like receptor 1 HYPE 12q24.1 chemokine-like receptor 1 SART3 12q24.1 squamous cell carcinoma antigen recognised by T cells 3 NIFU 12-q24.1 squamous cell carcinoma antigen recognised by T cells 3 LOC338773 12q24.12 hypothetical protein LOC338773 SELPLG 12q24 selectin P ligand CORO1C 12q24.1 coronin, actin binding protein, 1C SSH1 12q24.12 slingshot 1 DAO 12q24.12 D-amino-acid oxidase DKFZp761H039 12q24.12 hypothetical protein DKFZp761H039 USP30 12q23.3 ubiquitin specific protease 30 LOC121642 12q24.12 similar to hypothetical protein 9530023G02 UNG 12q23-q24.1 uracil-DNA glycosylase LOC387883 12 LOC387883 ACACB 12q24.1 acetyl-Coenzyme A carboxylase beta FOXN4 12q24.12 forkhead box N4 LOC387884 12 LOC387884 FLJ37587 12q24.12 hypothetical protein FLJ37587 KCTD10 12q24.12 potassium channel tetramerisation domain containing 10 UBE3B 12q24.12 potassium channel tetramerisation domain containing 10 MMAB MVK 12q24 mevalonate kinase (mevalonic aciduria) MGC14436 12q24.12 hypothetical protein MGC14436 FLJ14721 12q24.12 hypothetical protein FLJ14721 TRPV4 12q24.1 transient receptor potential cation channel, subfamily V, member 4 GLTP 12q24.12 glycolipid transfer protein MGC10854 12q24.12 hypothetical protein MGC10854 GIT2 12q24.1 G protein-coupled receptor kinase-interactor 2 ANKRD13 12q24.12 ankyrin repeat domain 13 LOC144705 12q24.12 hypothetical gene supported by AF086409 CDV-1 12q24.13 carnitine deficiency-associated gene expressed in ventricle 1 ATP2A2 12q24.1 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 HMGA1L3 12q24.13 high mobility group AT-hook 1-like 3 ARPC3 12q24 actin related protein 2/3 complex, subunit 3, 21kDa MGC14560 12q24.13 protein x 0004 HSU79274 12q24.13 protein predicted by clone 23733 VPS29 12q24 vacuolar protein sorting 29 (yeast) RAD9B 12q24.13 RAD9 homolog B (S. cerevisiae) TA-PP2C 12q24.13 T-cell activation protein phosphatase 2C
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    52 - 9260 - 2458 - 2009 19618481
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Nervousnerve   highly
    Reproductivefemale systembreastmammary gland highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES Hydrophobic
    STRUCTURE
    motifs/domains
  • carboxyl transferase domain
  • a biotin carboxylase (BC) domain (Cho 2010)
  • N-terminal sequences of ACC2 are responsible for mitochondrial targeting of ACC2
  • conjugated PhosphoP
    HOMOLOGY
    interspecies ortholog to Acacb, Mus musculus
    ortholog to Acacb, Rattus norvegicus
    ortholog to acacb, Danio rerio
    Homologene
    FAMILY
  • biotin containing enzyme family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    text colocalizing with CPT1
    basic FUNCTION
  • biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis
  • may involved in the regulation of fatty acid beta-oxidation and energy production
  • activity of ACACB plays an important role in the disorders related to energy metabolism
  • regulates fatty acid oxidation (FAO) by inhibiting carnitine palmitoyltransferase 1 (CPT1), a rate-limiting enzyme of FAO in mitochondria
  • is dispensable for CD8+ T cell responses
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism energetic , lipid/lipoprotein
    signaling
    long chain fatty acid synthesis (mitochondrial)
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • biotin
  • protein
  • allosterically regulating CPT1 activity
  • PRKAA1 might regulate NADPH homeostasis by inhibiting ACACA and ACACB
  • cell & other
    REGULATION
    induced by MgoD1-MyoG and MYF6 (for the muscle specific expression via E.box
    inhibited by nuclear respiratory factor-1 (NRF-1) via AMPK activation
    AMPK
    Phosphorylated by ACACB and phosphorylation of ACACB S212 is required for the maintenance of skeletal muscle lipid and glucose homeostasis
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    Cardiac-specific deletion of ACACB prevents metabolic remodeling during pressure-overload hypertrophy
    Susceptibility to obesity and diabetes
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target therapeutic target for obesity and diabetes (Cho 2010)
    ANIMAL & CELL MODELS
  • Acc2-/- mutant mice have a normal life span, a higher fatty acid oxidation rate, and lower amounts of fat