1: ACACA acetyl-Coenzyme A carboxylase alpha [ Homo sapiens ]

GeneID: 31 updated 8-Nov-2009

[Top][Help]Summary

Official Symbol
ACACAprovided by HGNC
Official Full Name
acetyl-Coenzyme A carboxylase alphaprovided by HGNC
Primary Source
HGNC:84
See related
Ensembl:ENSG00000132142; HPRD:01938; MIM:200350
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; ACACA
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]

[Top][Help]Genomic regions, transcripts, and products

(minus strand) Go to reference sequence detailsTry our new Sequence Viewer


[Top][Help]Genomic context

chromosome: 17; Location: 17q21See ACACA in MapViewer

[Top][Help]Bibliography

Related Articles in PubMed

GeneRIFs: Gene References Into Function What's a GeneRIF?

PubMed 1. Data show that kidney bean husk extract exhibited antitumor effects accompanied by the increase in p-AMPK and p-Acc as well as antitumor proteins p53 and p21.
PubMed 2. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
PubMed 3. The interaction between BRCA1 and acetyl-CoA-carboxylase is regulated during cell cycle progression.
PubMed 4. Data suggest that increased expression of malonyl CoA decarboxylase, and the decreased expression of acetyl CoA carboxylase and 5'-AMP activated protein kinase are important regulators of the maturation of fatty acid oxidation in the newborn human heart.
PubMed 5. AMPK alpha2 activity, AMPK alpha2 Thr172 phosphorylation, and ACC-beta Ser222 phosphorylation were increased immediately after exercise. These increases had all returned to basal levels at 3 and 24 h after exercise.
PubMed 6. Differential activation of recombinant ACC1 and ACC2 by citrate is reported.
PubMed 7. biochemical analysis of human BRCA1 BRCT domains in complex with a phospho-peptide from human ACC1
PubMed 8. AKR1B10 regulates the stability of acetyl-CoA carboxylase-alpha and is a novel regulator of the biosynthesis of fatty acid, an essential component of the cell membrane, in breast cancer cells
PubMed 9. Observational study of gene-disease association and pharmacogenomic / toxicogenomic. (HuGE Navigator)
PubMed 10. Observational study of gene-disease association. (HuGE Navigator)
PubMed 11. Observational study of genotype prevalence. (HuGE Navigator)
PubMed 12. observations provide complete information about the pattern and levels of LKB1 and p-ACC immunostaining in normal tissues and in lung tumors
PubMed 13. the major mechanism of HER2-mediated induction of FASN and ACCalpha in the breast cancer cells used in this study is translational regulation primarily through the mTOR signaling pathway.
PubMed 14. Transcription of ACC-alpha from at least three promoters and the potential to generate ACC-alpha isozymes with differential susceptibilities to phosphorylation indicate that the regulation of fatty acid synthesis in human tissues is likely to be complex
PubMed 15. Human acetyl-CoA carboxylase 1 gene has three promoters and heterogeneity at the 5'-untranslated mRNA region
PubMed 16. a possible role of the ACC-alpha common sequence variants in susceptibility to breast cancer
PubMed 17. BRCA1 affects lipogenesis through binding to P-ACCA, suggesting a new mechanism by which BRCA1 may exert a tumor suppressor function
PubMed 18. polymorphisms in acetyl-Coenzyme A carboxylase alpha is associated with breast cancer predisposition
PubMed 19. the whole BRCA1 protein interacts with ACCA when phosphorylated on Ser1263.
Submit: New GeneRIF Correction

[Top][Help]Interactions

Description ..........
  Product Interactant Other Gene Complex Source Pubs          
BRCA1 interacts with acetyl-CoA carboxylase.
  NP_000655.1   NP_009227.1   BRCA1      BIND    PubMed
 
  NP_942131.1   NP_009225.1   BRCA1      HPRD    PubMed
Affinity Capture-MS; Affinity Capture-Western
  BioGRID:106549   BioGRID:107140   BRCA1      BioGRID    PubMed
Two-hybrid
  BioGRID:106549   BioGRID:107539   CHGB      BioGRID    PubMed

[Top][Help]General gene information

Markers

RH17508(e-PCR)
Links: UniSTS:23301
WI-11525(e-PCR)
Links: UniSTS:79368
RH98496(e-PCR)
Links: UniSTS:86543
G19724(e-PCR)
Links: UniSTS:55059
A001W36(e-PCR)
Links: UniSTS:55060
G60122(e-PCR)
Links: UniSTS:137243
D17S1255(e-PCR)
Links: UniSTS:149800
D17S107(e-PCR)
Links: UniSTS:148266
SHGC-106779(e-PCR)
Links: UniSTS:170029
D17S1354E(e-PCR)
Links: UniSTS:38450
Cda0ce05(e-PCR)
Links: UniSTS:37182
SHGC-78675(e-PCR)
Links: UniSTS:101968
ACACA_8187(e-PCR)
Links: UniSTS:467543
WI-14928(e-PCR)
Links: UniSTS:11112
G09844(e-PCR)
Links: UniSTS:26991
SHGC-31900(e-PCR)
Links: UniSTS:81545
D17S1515E(e-PCR)
Links: UniSTS:151719
G32583(e-PCR)
Links: UniSTS:117166
A009J24(e-PCR)
Links: UniSTS:71610
SHGC-105835(e-PCR)
Links: UniSTS:169451
D17S1354E(e-PCR)
Links: UniSTS:473326
G54157(e-PCR)
Links: UniSTS:140785
D17S2161(e-PCR)
Links: UniSTS:10739

Phenotypes

Acetyl-CoA carboxylase deficiency
MIM: 200350

Homology

Homologs of the ACACA gene The ACACA gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, S.pombe, S.cerevisiae, K.lactis, E.gossypii, M.grisea, N.crassa, A.thaliana, and rice.


Map Viewer (Mouse, Rat)

Pathways

KEGG pathway: Fatty acid biosynthesis
00061
KEGG pathway: Insulin signaling pathway
04910
KEGG pathway: Metabolic pathways
01100
KEGG pathway: Propanoate metabolism
00640
KEGG pathway: Pyruvate metabolism
00620
Reactome Event:Integration of energy metabolism
REACT_1505
Reactome Event:Metabolism of lipids and lipoproteins
REACT_602

[Top][Help]General protein information

Preferred Names
acetyl-Coenzyme A carboxylase alpha
Names
acetyl-Coenzyme A carboxylase alpha
ACC-alpha
acetyl-CoA carboxylase 1
acetyl-CoA carboxylase-alpha
NP_942131.1
EC 6.3.4.14
EC 6.4.1.2
3` partial
NP_942133.1
EC 6.3.4.14
EC 6.4.1.2
3` partial
NP_942134.1
EC 6.3.4.14
EC 6.4.1.2
NP_942135.1
EC 6.3.4.14
EC 6.4.1.2
NP_942136.1
EC 6.3.4.14
EC 6.4.1.2
3` partial

[Top][Help]NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

mRNA and Protein(s)

  1. NM_198834.1 → NP_942131.1  acetyl-Coenzyme A carboxylase alpha isoform 1

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AY315625,AY315627,BC031485,BC041598,BF154865,CF454424,U19822
    Consensus CDS
    CCDS42302.1
    UniProtKB/Swiss-Prot
    Q13085
    UniProtKB/TrEMBL
    Q7Z5W8
    Conserved Domains (7) summary
    COG0439
    Location:155 – 657
    Blast Score: 1039
    AccC; Biotin carboxylase [Lipid metabolism]
    pfam00289
    Location:154 – 277
    Blast Score: 281
    CPSase_L_chain; Carbamoyl-phosphate synthase L chain, N-terminal domain
    pfam01039
    Location:1701 – 2260
    Blast Score: 1478
    Carboxyl_trans; Carboxyl transferase domain
    pfam08326
    Location:856 – 1606
    Blast Score: 2321
    ACC_central; Acetyl-CoA carboxylase, central region
    cd06850
    Location:792 – 855
    Blast Score: 166
    biotinyl_domain; The biotinyl-domain or biotin carboxyl carrier protein (BCCP) domain is present in all biotin-dependent enzymes, such as acetyl-CoA carboxylase, pyruvate carboxylase, propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, geranyl-CoA carboxylase...
    cl03087
    Location:316 – 512
    Blast Score: 526
    Dala_Dala_lig_C; D-ala D-ala ligase C-terminus
    cl08365
    Location:544 – 651
    Blast Score: 396
    Biotin_carb_C; Biotin carboxylase C-terminal domain

  2. NM_198836.1 → NP_942133.1  acetyl-Coenzyme A carboxylase alpha isoform 2

    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)
    AY315621,AY315625,AY315627,BC031485,BC041598,BF154865,U19822
    Consensus CDS
    CCDS11317.1
    UniProtKB/TrEMBL
    B2ZZ90
    UniProtKB/Swiss-Prot
    Q13085
    UniProtKB/TrEMBL
    Q7Z5W8
    Conserved Domains (7) summary
    COG0439
    Location:118 – 620
    Blast Score: 1039
    AccC; Biotin carboxylase [Lipid metabolism]
    pfam00289
    Location:117 – 240
    Blast Score: 281
    CPSase_L_chain; Carbamoyl-phosphate synthase L chain, N-terminal domain
    pfam01039
    Location:1664 – 2223
    Blast Score: 1478
    Carboxyl_trans; Carboxyl transferase domain
    pfam08326
    Location:819 – 1569
    Blast Score: 2319
    ACC_central; Acetyl-CoA carboxylase, central region
    cd06850
    Location:755 – 818
    Blast Score: 166
    biotinyl_domain; The biotinyl-domain or biotin carboxyl carrier protein (BCCP) domain is present in all biotin-dependent enzymes, such as acetyl-CoA carboxylase, pyruvate carboxylase, propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, geranyl-CoA carboxylase...
    cl03087
    Location:279 – 475
    Blast Score: 525
    Dala_Dala_lig_C; D-ala D-ala ligase C-terminus
    cl08365
    Location:507 – 614
    Blast Score: 396
    Biotin_carb_C; Biotin carboxylase C-terminal domain

  3. NM_198837.1 → NP_942134.1  acetyl-Coenzyme A carboxylase alpha isoform 3

    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
    Conserved Domains (7) summary
    COG0439
    Location:60 – 562
    Blast Score: 1038
    AccC; Biotin carboxylase [Lipid metabolism]
    pfam00289
    Location:59 – 182
    Blast Score: 282
    CPSase_L_chain; Carbamoyl-phosphate synthase L chain, N-terminal domain
    pfam01039
    Location:1606 – 2165
    Blast Score: 1476
    Carboxyl_trans; Carboxyl transferase domain
    pfam08326
    Location:761 – 1511
    Blast Score: 2322
    ACC_central; Acetyl-CoA carboxylase, central region
    cd06850
    Location:697 – 760
    Blast Score: 166
    biotinyl_domain; The biotinyl-domain or biotin carboxyl carrier protein (BCCP) domain is present in all biotin-dependent enzymes, such as acetyl-CoA carboxylase, pyruvate carboxylase, propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, geranyl-CoA carboxylase...
    cl03087
    Location:221 – 417
    Blast Score: 525
    Dala_Dala_lig_C; D-ala D-ala ligase C-terminus
    cl08365
    Location:449 – 556
    Blast Score: 396
    Biotin_carb_C; Biotin carboxylase C-terminal domain

  4. NM_198838.1 → NP_942135.1  acetyl-Coenzyme A carboxylase alpha isoform 4

    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
    Q7Z5W8
    Conserved Domains (7) summary
    COG0439
    Location:40 – 542
    Blast Score: 1038
    AccC; Biotin carboxylase [Lipid metabolism]
    pfam00289
    Location:39 – 162
    Blast Score: 282
    CPSase_L_chain; Carbamoyl-phosphate synthase L chain, N-terminal domain
    pfam01039
    Location:1586 – 2145
    Blast Score: 1476
    Carboxyl_trans; Carboxyl transferase domain
    pfam08326
    Location:741 – 1491
    Blast Score: 2324
    ACC_central; Acetyl-CoA carboxylase, central region
    cd06850
    Location:677 – 740
    Blast Score: 166
    biotinyl_domain; The biotinyl-domain or biotin carboxyl carrier protein (BCCP) domain is present in all biotin-dependent enzymes, such as acetyl-CoA carboxylase, pyruvate carboxylase, propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, geranyl-CoA carboxylase...
    cl03087
    Location:201 – 397
    Blast Score: 525
    Dala_Dala_lig_C; D-ala D-ala ligase C-terminus
    cl08365
    Location:429 – 536
    Blast Score: 396
    Biotin_carb_C; Biotin carboxylase C-terminal domain

  5. NM_198839.1 → NP_942136.1  acetyl-Coenzyme A carboxylase alpha isoform 2

    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)
    AY315623,AY315627,BC031485,BC041598,BF154865,CF454424,U19822
    Consensus CDS
    CCDS11317.1
    UniProtKB/TrEMBL
    B2ZZ90
    UniProtKB/Swiss-Prot
    Q13085
    UniProtKB/TrEMBL
    Q7Z5W8
    Conserved Domains (7) summary
    COG0439
    Location:118 – 620
    Blast Score: 1039
    AccC; Biotin carboxylase [Lipid metabolism]
    pfam00289
    Location:117 – 240
    Blast Score: 281
    CPSase_L_chain; Carbamoyl-phosphate synthase L chain, N-terminal domain
    pfam01039
    Location:1664 – 2223
    Blast Score: 1478
    Carboxyl_trans; Carboxyl transferase domain
    pfam08326
    Location:819 – 1569
    Blast Score: 2319
    ACC_central; Acetyl-CoA carboxylase, central region
    cd06850
    Location:755 – 818
    Blast Score: 166
    biotinyl_domain; The biotinyl-domain or biotin carboxyl carrier protein (BCCP) domain is present in all biotin-dependent enzymes, such as acetyl-CoA carboxylase, pyruvate carboxylase, propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, geranyl-CoA carboxylase...
    cl03087
    Location:279 – 475
    Blast Score: 525
    Dala_Dala_lig_C; D-ala D-ala ligase C-terminus
    cl08365
    Location:507 – 614
    Blast Score: 396
    Biotin_carb_C; Biotin carboxylase C-terminal domain

RefSeqs of Annotated Genomes: Build 37.1

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

Genome Reference Consortium Human Build 37 (GRCh37), Primary_Assembly

Genomic

  1. NC_000017.10

    Range
    35441926..35766901, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

  2. NT_010783.15 

    Range
    716078..1041053, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (Celera)

Genomic

  1. AC_000060.1

    Range
    32264386..32589360, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

  2. NW_926817.1 

    Range
    632355..957329, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (HuRef)

Genomic

  1. AC_000149.1

    Range
    31378026..31583938, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

  2. NW_001838433.1 

    Range
    636326..842238, 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.

[Top][Help]Related Sequences

  Nucleotide   Protein
  genomic   AC003103.2  (72076..101799)   None
  genomic   AC016482.5  (16794..145908)   None
  genomic   AC068400.10  (7416..173552)   None
  genomic   AY315616.1   None
  genomic   AY315617.1   None
  genomic   AY315618.1   AAP94113.1
  genomic   CH471199.1   EAW57576.1
       EAW57577.1
       EAW57578.1
       EAW57579.1
       EAW57580.1
       EAW57581.1
       EAW57582.1
       EAW57583.1
  mRNA   AB209325.1   BAD92562.1
  mRNA   AB371587.1   BAG48316.1
  mRNA   AJ534888.1   CAD59556.1
  mRNA   AJ534889.1   CAD59557.1
  mRNA   AJ564444.1   CAD92089.1
  mRNA   AK129523.1   None
  mRNA   AK295586.1   BAG58478.1
  mRNA   AK295735.1   BAG58574.1
  mRNA   AK295805.1   BAG58623.1
  mRNA   AK296368.1   BAG59043.1
  mRNA   AK301579.1   BAG63071.1
  mRNA   AK308905.1   None
  mRNA   AK309084.1   None
  mRNA   AK309424.1   None
  mRNA   AK311329.1   None
  mRNA   AY237919.1   AAP69841.1
  mRNA   AY315619.1   AAP94114.1
  mRNA   AY315620.1   AAP94115.1
  mRNA   AY315621.1   AAP94116.1
  mRNA   AY315622.1   AAP94117.1
  mRNA   AY315623.1   AAP94118.1
  mRNA   AY315624.1   AAP94119.1
  mRNA   AY315625.1   AAP94120.1
  mRNA   AY315626.1   AAP94121.1
  mRNA   AY315627.1   AAP94122.1
  mRNA   BC031485.1   AAH31485.1
  mRNA   BC041598.1   None
  mRNA   BC137287.1   AAI37288.1
  mRNA   BF154865.1   None
  mRNA   CF454424.1   None
  mRNA   CR598320.1   None
  mRNA   CR607505.1   None
  mRNA   CR614552.1   None
  mRNA   CR626022.1   None
  mRNA   U19822.1   AAC50139.1
Protein Accession   Links
Q13085.2   GenPept   UniProtKB/Swiss-Prot:Q13085
Q59FY4   GenPept   UniProtKB/TrEMBL:Q59FY4
Q7Z562   GenPept   UniProtKB/TrEMBL:Q7Z562
Q7Z565   GenPept   UniProtKB/TrEMBL:Q7Z565
Q7Z5W8   GenPept   UniProtKB/TrEMBL:Q7Z5W8

[Top][Help]Additional Links

Gene LinkOut

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