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

Gene ID: 31, updated on 8-Jul-2018
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]
Expression
Ubiquitous expression in fat (RPKM 9.8), brain (RPKM 9.7) and 24 other tissues See more
Orthologs
See ACACA in Genome Data Viewer
Location:
17q12
Exon count:
63
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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
 
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
 
positive regulation of cellular metabolic process TAS
Traceable Author Statement
more info
 
protein homotetramerization ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
protein metabolic process IEA
Inferred from Electronic Annotation
more info
 
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
 
fibrillar center IDA
Inferred from Direct Assay
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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 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_005257267.5XP_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.p12 ALT_REF_LOCI_1

Genomic

  1. NT_187614.1 Reference GRCh38.p12 ALT_REF_LOCI_1

    Range
    1320992..1645967 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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