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    ACACA acetyl-CoA carboxylase alpha [ Homo sapiens (human) ]

    Gene ID: 31, updated on 5-Nov-2017
    Official Symbol
    ACACAprovided by HGNC
    Official Full Name
    acetyl-CoA carboxylase alphaprovided by HGNC
    Primary source
    HGNC:HGNC:84
    See related
    Ensembl:ENSG00000278540 MIM:200350; Vega:OTTHUMG00000188463
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ACC; ACAC; ACC1; ACCA; ACACAD
    Summary
    Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. There are two ACC forms, alpha and beta, encoded by two different genes. ACC-alpha is highly enriched in lipogenic tissues. The enzyme is under long term control at the transcriptional and translational levels and under short term regulation by the phosphorylation/dephosphorylation of targeted serine residues and by allosteric transformation by citrate or palmitoyl-CoA. Multiple alternatively spliced transcript variants divergent in the 5' sequence and encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    17q12
    Exon count:
    63
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (37084992..37406822, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (35441927..35766902, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene apoptosis antagonizing transcription factor Neighboring gene uncharacterized LOC105371753 Neighboring gene microRNA 2909 Neighboring gene high mobility group box 1 pseudogene 24 Neighboring gene ribosomal protein S2 pseudogene 49 Neighboring gene ribosomal protein L18a pseudogene 12 Neighboring gene small nucleolar RNA, H/ACA box 90 Neighboring gene chromosome 17 open reading frame 78 Neighboring gene transcriptional adaptor 2A Neighboring gene ribosomal protein L24 pseudogene Neighboring gene dual specificity phosphatase 14

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Acetyl-CoA: carboxylase deficiency
    MedGen: C0268603 OMIM: 613933 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus.
    NHGRI GWA Catalog
    GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Gag interacts with ACACA as demonstrated by proximity dependent biotinylation proteomics PubMed
    tat Knockdown of SIRT1 by its inhibitor or siRNA results in Tat-mediated reduction of phosphorylation of AMP-activated protein kinase (AMPK) and downstream acetyl-CoA carboxylase (ACC) PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    acetyl-CoA carboxylase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    acetyl-CoA carboxylase activity TAS
    Traceable Author Statement
    more info
     
    biotin carboxylase activity IEA
    Inferred from Electronic Annotation
    more info
     
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    acetyl-CoA metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    biotin metabolic process TAS
    Traceable Author Statement
    more info
     
    carnitine shuttle TAS
    Traceable Author Statement
    more info
     
    cellular response to prostaglandin E stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    fatty acid biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    fatty-acyl-CoA biosynthetic process TAS
    Traceable Author Statement
    more info
     
    lipid homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    malonyl-CoA biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    multicellular organismal protein metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cellular metabolic process TAS
    Traceable Author Statement
    more info
     
    protein homotetramerization ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    regulation of cholesterol biosynthetic process TAS
    Traceable Author Statement
    more info
     
    tissue homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    fibrillar center IDA
    Inferred from Direct Assay
    more info
     
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    acetyl-CoA carboxylase 1
    Names
    ACC-alpha
    acetyl-Coenzyme A carboxylase alpha
    NP_942131.1
    NP_942133.1
    NP_942134.1
    NP_942135.1
    NP_942136.1
    XP_005257324.1
    XP_006721916.1
    XP_011523003.1
    XP_011523005.1
    XP_011523006.1
    XP_016880042.1
    XP_016880043.1
    XP_016880044.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_023295.2 RefSeqGene

      Range
      5001..326820
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_198834.2NP_942131.1  acetyl-CoA carboxylase 1 isoform 1

      See identical proteins and their annotated locations for NP_942131.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AB371587, AY315625, BC041598, CF454424
      Consensus CDS
      CCDS42302.1
      UniProtKB/Swiss-Prot
      Q13085
      UniProtKB/TrEMBL
      B2ZZ90
      Related
      ENSP00000483300.1, OTTHUMP00000276650, ENST00000616317.4, OTTHUMT00000477312
      Conserved Domains (8) summary
      COG0439
      Location:155657
      AccC; Biotin carboxylase [Lipid transport and metabolism]
      COG0511
      Location:708855
      AccB; Biotin carboxyl carrier protein [Coenzyme transport and metabolism, Lipid transport and metabolism]
      pfam00289
      Location:155274
      CPSase_L_chain; Carbamoyl-phosphate synthase L chain, N-terminal domain
      pfam00364
      Location:790855
      Biotin_lipoyl; Biotin-requiring enzyme
      pfam01039
      Location:17062254
      Carboxyl_trans; Carboxyl transferase domain
      pfam02785
      Location:544651
      Biotin_carb_C; Biotin carboxylase C-terminal domain
      pfam08326
      Location:8571606
      ACC_central; Acetyl-CoA carboxylase, central region
      cl17255
      Location:316507
      ATP-grasp_4; ATP-grasp domain
    2. NM_198836.2NP_942133.1  acetyl-CoA carboxylase 1 isoform 2

      See identical proteins and their annotated locations for NP_942133.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate 5' UTR exon, and uses a downstream start codon, as compared to variant (1). The resulting isoform (2) has a shorter N-terminus, as compared to isoform 1.
      Source sequence(s)
      AB371587, AY315621, BC041598
      Consensus CDS
      CCDS11317.1
      UniProtKB/Swiss-Prot
      Q13085
      UniProtKB/TrEMBL
      B2ZZ90
      Related
      ENSP00000478547.1, OTTHUMP00000276652, ENST00000614428.4, OTTHUMT00000477314
      Conserved Domains (8) summary
      COG0439
      Location:118620
      AccC; Biotin carboxylase [Lipid transport and metabolism]
      COG0511
      Location:671818
      AccB; Biotin carboxyl carrier protein [Coenzyme transport and metabolism, Lipid transport and metabolism]
      pfam00289
      Location:118237
      CPSase_L_chain; Carbamoyl-phosphate synthase L chain, N-terminal domain
      pfam00364
      Location:753818
      Biotin_lipoyl; Biotin-requiring enzyme
      pfam01039
      Location:16692217
      Carboxyl_trans; Carboxyl transferase domain
      pfam02785
      Location:507614
      Biotin_carb_C; Biotin carboxylase C-terminal domain
      pfam08326
      Location:8201569
      ACC_central; Acetyl-CoA carboxylase, central region
      cl17255
      Location:279470
      ATP-grasp_4; ATP-grasp domain
    3. NM_198837.1NP_942134.1  acetyl-CoA carboxylase 1 isoform 3

      See identical proteins and their annotated locations for NP_942134.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has a shorter and alternate 5' sequence, as compared to variant 1. The resulting isoform (3) has a distinct and shorter N-terminus, as compared to isoform 1.
      Source sequence(s)
      AY315620, AY315627, BC031485, BC041598, U19822
      Consensus CDS
      CCDS11318.1
      UniProtKB/Swiss-Prot
      Q13085
      UniProtKB/TrEMBL
      Q7Z5W8
      Related
      ENSP00000482269.1, OTTHUMP00000276651, ENST00000612895.4, OTTHUMT00000477313
      Conserved Domains (8) summary
      COG0439
      Location:60562
      AccC; Biotin carboxylase [Lipid transport and metabolism]
      COG0511
      Location:613760
      AccB; Biotin carboxyl carrier protein [Coenzyme transport and metabolism, Lipid transport and metabolism]
      pfam00289
      Location:60179
      CPSase_L_chain; Carbamoyl-phosphate synthase L chain, N-terminal domain
      pfam00364
      Location:695760
      Biotin_lipoyl; Biotin-requiring enzyme
      pfam01039
      Location:16112159
      Carboxyl_trans; Carboxyl transferase domain
      pfam02785
      Location:449556
      Biotin_carb_C; Biotin carboxylase C-terminal domain
      pfam08326
      Location:7621511
      ACC_central; Acetyl-CoA carboxylase, central region
      cl17255
      Location:221412
      ATP-grasp_4; ATP-grasp domain
    4. NM_198838.1NP_942135.1  acetyl-CoA carboxylase 1 isoform 4

      See identical proteins and their annotated locations for NP_942135.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has a shorter and alternate 5' sequence and uses a downstream start codon, as compared to variant 1. The resulting isoform (4) has a shorter N-terminus, as compared to isoform 1.
      Source sequence(s)
      AY315619, AY315627, BC031485, BC041598, U19822
      Consensus CDS
      CCDS42303.1
      UniProtKB/Swiss-Prot
      Q13085
      UniProtKB/TrEMBL
      A0A024R0Y2, Q7Z5W8
      Related
      ENSP00000482368.1, OTTHUMP00000276654, ENST00000617649.4, OTTHUMT00000477316
      Conserved Domains (8) summary
      COG0439
      Location:40542
      AccC; Biotin carboxylase [Lipid transport and metabolism]
      COG0511
      Location:593740
      AccB; Biotin carboxyl carrier protein [Coenzyme transport and metabolism, Lipid transport and metabolism]
      pfam00289
      Location:40159
      CPSase_L_chain; Carbamoyl-phosphate synthase L chain, N-terminal domain
      pfam00364
      Location:675740
      Biotin_lipoyl; Biotin-requiring enzyme
      pfam01039
      Location:15912139
      Carboxyl_trans; Carboxyl transferase domain
      pfam02785
      Location:429536
      Biotin_carb_C; Biotin carboxylase C-terminal domain
      pfam08326
      Location:7421491
      ACC_central; Acetyl-CoA carboxylase, central region
      cl17255
      Location:201392
      ATP-grasp_4; ATP-grasp domain
    5. NM_198839.2NP_942136.1  acetyl-CoA carboxylase 1 isoform 2

      See identical proteins and their annotated locations for NP_942136.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) is the longest transcript, which has several additional exons in the 5' region, as compared to variant 1. It uses a downstream start codon and the resulting isoform (2) has a shorter N-terminus, as compared to isoform 1.
      Source sequence(s)
      AB371587, AY315623, BC041598, CF454424
      Consensus CDS
      CCDS11317.1
      UniProtKB/Swiss-Prot
      Q13085
      UniProtKB/TrEMBL
      B2ZZ90
      Conserved Domains (8) summary
      COG0439
      Location:118620
      AccC; Biotin carboxylase [Lipid transport and metabolism]
      COG0511
      Location:671818
      AccB; Biotin carboxyl carrier protein [Coenzyme transport and metabolism, Lipid transport and metabolism]
      pfam00289
      Location:118237
      CPSase_L_chain; Carbamoyl-phosphate synthase L chain, N-terminal domain
      pfam00364
      Location:753818
      Biotin_lipoyl; Biotin-requiring enzyme
      pfam01039
      Location:16692217
      Carboxyl_trans; Carboxyl transferase domain
      pfam02785
      Location:507614
      Biotin_carb_C; Biotin carboxylase C-terminal domain
      pfam08326
      Location:8201569
      ACC_central; Acetyl-CoA carboxylase, central region
      cl17255
      Location:279470
      ATP-grasp_4; ATP-grasp domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      37084992..37406822 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011524701.1XP_011523003.1  acetyl-CoA carboxylase 1 isoform X4

      See identical proteins and their annotated locations for XP_011523003.1

      Conserved Domains (8) summary
      COG0439
      Location:125627
      AccC; Biotin carboxylase [Lipid transport and metabolism]
      COG0511
      Location:678825
      AccB; Biotin carboxyl carrier protein [Coenzyme transport and metabolism, Lipid transport and metabolism]
      pfam00289
      Location:125244
      CPSase_L_chain; Carbamoyl-phosphate synthase L chain, N-terminal domain
      pfam00364
      Location:760825
      Biotin_lipoyl; Biotin-requiring enzyme
      pfam01039
      Location:16762224
      Carboxyl_trans; Carboxyl transferase domain
      pfam02785
      Location:514621
      Biotin_carb_C; Biotin carboxylase C-terminal domain
      pfam08326
      Location:8271576
      ACC_central; Acetyl-CoA carboxylase, central region
      cl17255
      Location:286477
      ATP-grasp_4; ATP-grasp domain
    2. XM_006721853.1XP_006721916.1  acetyl-CoA carboxylase 1 isoform X3

      Conserved Domains (8) summary
      COG0439
      Location:155657
      AccC; Biotin carboxylase [Lipid transport and metabolism]
      COG0511
      Location:708855
      AccB; Biotin carboxyl carrier protein [Coenzyme transport and metabolism, Lipid transport and metabolism]
      pfam00289
      Location:155274
      CPSase_L_chain; Carbamoyl-phosphate synthase L chain, N-terminal domain
      pfam00364
      Location:790855
      Biotin_lipoyl; Biotin-requiring enzyme
      pfam01039
      Location:16982246
      Carboxyl_trans; Carboxyl transferase domain
      pfam02785
      Location:544651
      Biotin_carb_C; Biotin carboxylase C-terminal domain
      pfam08326
      Location:8571598
      ACC_central; Acetyl-CoA carboxylase, central region
      cl17255
      Location:316507
      ATP-grasp_4; ATP-grasp domain
    3. XM_017024554.1XP_016880043.1  acetyl-CoA carboxylase 1 isoform X2

    4. XM_017024553.1XP_016880042.1  acetyl-CoA carboxylase 1 isoform X1

    5. XM_017024555.1XP_016880044.1  acetyl-CoA carboxylase 1 isoform X5

      UniProtKB/Swiss-Prot
      Q13085
      UniProtKB/TrEMBL
      B2ZZ90
      Conserved Domains (8) summary
      COG0439
      Location:118620
      AccC; Biotin carboxylase [Lipid transport and metabolism]
      COG0511
      Location:671818
      AccB; Biotin carboxyl carrier protein [Coenzyme transport and metabolism, Lipid transport and metabolism]
      pfam00289
      Location:118237
      CPSase_L_chain; Carbamoyl-phosphate synthase L chain, N-terminal domain
      pfam00364
      Location:753818
      Biotin_lipoyl; Biotin-requiring enzyme
      pfam01039
      Location:16692217
      Carboxyl_trans; Carboxyl transferase domain
      pfam02785
      Location:507614
      Biotin_carb_C; Biotin carboxylase C-terminal domain
      pfam08326
      Location:8201569
      ACC_central; Acetyl-CoA carboxylase, central region
      cl17255
      Location:279470
      ATP-grasp_4; ATP-grasp domain
    6. XM_005257267.4XP_005257324.1  acetyl-CoA carboxylase 1 isoform X6

      See identical proteins and their annotated locations for XP_005257324.1

      UniProtKB/TrEMBL
      A0A024R0Y2
      Conserved Domains (8) summary
      COG0439
      Location:40542
      AccC; Biotin carboxylase [Lipid transport and metabolism]
      COG0511
      Location:593740
      AccB; Biotin carboxyl carrier protein [Coenzyme transport and metabolism, Lipid transport and metabolism]
      pfam00289
      Location:40159
      CPSase_L_chain; Carbamoyl-phosphate synthase L chain, N-terminal domain
      pfam00364
      Location:675740
      Biotin_lipoyl; Biotin-requiring enzyme
      pfam01039
      Location:15912139
      Carboxyl_trans; Carboxyl transferase domain
      pfam02785
      Location:429536
      Biotin_carb_C; Biotin carboxylase C-terminal domain
      pfam08326
      Location:7421491
      ACC_central; Acetyl-CoA carboxylase, central region
      cl17255
      Location:201392
      ATP-grasp_4; ATP-grasp domain
    7. XM_011524704.2XP_011523006.1  acetyl-CoA carboxylase 1 isoform X6

      See identical proteins and their annotated locations for XP_011523006.1

      UniProtKB/TrEMBL
      A0A024R0Y2
      Conserved Domains (8) summary
      COG0439
      Location:40542
      AccC; Biotin carboxylase [Lipid transport and metabolism]
      COG0511
      Location:593740
      AccB; Biotin carboxyl carrier protein [Coenzyme transport and metabolism, Lipid transport and metabolism]
      pfam00289
      Location:40159
      CPSase_L_chain; Carbamoyl-phosphate synthase L chain, N-terminal domain
      pfam00364
      Location:675740
      Biotin_lipoyl; Biotin-requiring enzyme
      pfam01039
      Location:15912139
      Carboxyl_trans; Carboxyl transferase domain
      pfam02785
      Location:429536
      Biotin_carb_C; Biotin carboxylase C-terminal domain
      pfam08326
      Location:7421491
      ACC_central; Acetyl-CoA carboxylase, central region
      cl17255
      Location:201392
      ATP-grasp_4; ATP-grasp domain
    8. XM_011524703.1XP_011523005.1  acetyl-CoA carboxylase 1 isoform X5

      See identical proteins and their annotated locations for XP_011523005.1

      UniProtKB/Swiss-Prot
      Q13085
      UniProtKB/TrEMBL
      B2ZZ90
      Conserved Domains (8) summary
      COG0439
      Location:118620
      AccC; Biotin carboxylase [Lipid transport and metabolism]
      COG0511
      Location:671818
      AccB; Biotin carboxyl carrier protein [Coenzyme transport and metabolism, Lipid transport and metabolism]
      pfam00289
      Location:118237
      CPSase_L_chain; Carbamoyl-phosphate synthase L chain, N-terminal domain
      pfam00364
      Location:753818
      Biotin_lipoyl; Biotin-requiring enzyme
      pfam01039
      Location:16692217
      Carboxyl_trans; Carboxyl transferase domain
      pfam02785
      Location:507614
      Biotin_carb_C; Biotin carboxylase C-terminal domain
      pfam08326
      Location:8201569
      ACC_central; Acetyl-CoA carboxylase, central region
      cl17255
      Location:279470
      ATP-grasp_4; ATP-grasp domain

    RNA

    1. XR_001752504.1 RNA Sequence

    Reference GRCh38.p7 ALT_REF_LOCI_1

    Genomic

    1. NT_187614.1 Reference GRCh38.p7 ALT_REF_LOCI_1

      Range
      1320992..1645967 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      35476555..35798374 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_000664.3: Suppressed sequence

      Description
      NM_000664.3: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    2. NM_198835.1: Suppressed sequence

      Description
      NM_198835.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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