ACACA - acetyl-CoA carboxylase alpha Gene

Also Known as ACC; ACAC; ACC1; ACCA; Acac1; hACC1; ACACAD; ACCalpha; ACACalpha

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 31

About ACACA

Cytogenetic location: 17q12 Genomic coordinates (GRCh38): 17:37,084,992-37,406,836 (from NCBI)

This gene has 23 transcripts (splice variants), 1 gene allele, 205 orthologues, 4 paralogues and is associated with 1 phenotype. Ubiquitous expression in fat (RPKM 9.8), brain (RPKM 9.7) and 24 other tissues.

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]

ACACA Products (28)

mRNA Protein Name
NM_000664.3
XM_047435894.1 XP_047291850.1 acetyl-CoA carboxylase 1 isoform X9
XM_047435882.1 XP_047291838.1 acetyl-CoA carboxylase 1 isoform X3
NM_198835.1
XM_047435886.1 XP_047291842.1 acetyl-CoA carboxylase 1 isoform X5
XM_047435883.1 XP_047291839.1 acetyl-CoA carboxylase 1 isoform X3
XM_047435889.1 XP_047291845.1 acetyl-CoA carboxylase 1 isoform X6
XM_047435892.1 XP_047291848.1 acetyl-CoA carboxylase 1 isoform X8
NM_198837.2 NP_942134.1 acetyl-CoA carboxylase 1 isoform 3
XM_047435893.1 XP_047291849.1 acetyl-CoA carboxylase 1 isoform X8
XM_047435880.1 XP_047291836.1 acetyl-CoA carboxylase 1 isoform X3
XM_047435885.1 XP_047291841.1 acetyl-CoA carboxylase 1 isoform X4
XM_047435878.1 XP_047291834.1 acetyl-CoA carboxylase 1 isoform X3
NM_198836.3 NP_942133.1 acetyl-CoA carboxylase 1 isoform 2
XM_047435891.1 XP_047291847.1 acetyl-CoA carboxylase 1 isoform X8
XM_006721853.2 XP_006721916.1 acetyl-CoA carboxylase 1 isoform X1
XM_005257267.6 XP_005257324.1 acetyl-CoA carboxylase 1 isoform X7
NM_198839.3 NP_942136.1 acetyl-CoA carboxylase 1 isoform 2
XM_011524703.1 XP_011523005.1 acetyl-CoA carboxylase 1 isoform X3
XM_011524701.2 XP_011523003.1 acetyl-CoA carboxylase 1 isoform X2
XM_047435879.1 XP_047291835.1 acetyl-CoA carboxylase 1 isoform X3
XM_011524704.3 XP_011523006.1 acetyl-CoA carboxylase 1 isoform X7
NM_198834.3 NP_942131.1 acetyl-CoA carboxylase 1 isoform 1
XM_047435881.1 XP_047291837.1 acetyl-CoA carboxylase 1 isoform X3
XM_047435888.1 XP_047291844.1 acetyl-CoA carboxylase 1 isoform X6
XM_047435890.1 XP_047291846.1 acetyl-CoA carboxylase 1 isoform X7
XM_047435884.1 XP_047291840.1 acetyl-CoA carboxylase 1 isoform X4
NM_198838.2 NP_942135.1 acetyl-CoA carboxylase 1 isoform 4
Molecular Function GO Annotation Evidence Referencias Source
enables acetyl-CoA carboxylase activity IDA
IDA: Inferred from direct assay
20457939 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
20457939 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16326698 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ACACA Protein Structure

Biotin_carb_N

Biotin_carb_N: Biotin carboxylase, N-terminal domain (155 - 274)

CPSase_L_D2

CPSase_L_D2: Carbamoyl-phosphate synthase L chain, ATP binding domain (325 - 508)

Biotin_carb_C

Biotin_carb_C: Biotin carboxylase C-terminal domain (545 - 651)

Biotin_lipoyl

Biotin_lipoyl: Biotin-requiring enzyme (790 - 855)

ACC_central

ACC_central: Acetyl-CoA carboxylase, central region (856 - 1606)

Carboxyl_trans

Carboxyl_trans: Carboxyl transferase domain (1706 - 2259)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2383 a.a.
Protein Preferred Names Protein Names

acetyl-CoA carboxylase 1

  • ACC-alpha

  • acetyl-Coenzyme A carboxylase alpha

ACACA Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Referencias
Intra
ACACA Q13085 AKR1B10 Homo sapiens O60218 18056116
Intra
ACACA Q13085 AKR1B10 Homo sapiens O60218 18056116
Intra
ACACA Q13085 SIRT1 Homo sapiens Q96EB6 19343720
Intra
ACACA Q13085 ACACA Homo sapiens Q13085 20457939
Intra
ACACA Q13085 ACACA Homo sapiens Q13085
GMS
20457939
Cross: Cross-species interaction Intra: Intraspecies interaction

ACACA Antibodies

Referencia número Nombre del producto Aplicación Reactivity
HY-P80482 Acetyl CoA Carboxylase 1 (ACC1) Antibody (YA646) WB, IHC-P Human, Mouse
HY-P80787 Phospho-Acetyl Coenzyme A Carboxylase (Ser79) Antibody (YA229) WB Human, Mouse, Rat
HY-P80787A Phospho-Acetyl Coenzyme A Carboxylase (Ser79) Antibody (YA229)(PBS only) WB Human
HY-P810548 Phospho-Acetyl Coenzyme A Carboxylase (Ser79) Antibody (YA9817) WB, ICC/IF, IHC-P Human, Mouse, Rat

Related Diseases

Diseases Alias
Multiple Carboxylase Deficiency
  • Mcd

  • Holocarboxylase Synthetase Deficiency

Non-Alcoholic Fatty Liver Disease
  • Fatty Liver

  • Non-Alcoholic Fatty Liver

  • Nafld

  • Nonalcoholic Fatty Liver Disease

  • Nonalcoholic Steatohepatitis

  • Steatosis

  • Nafl

  • Nash

  • Non-Alcoholic Steatohepatitis

  • Susceptibility To Nonalcoholic Fatty Liver Disease

  • Steatohepatitis

  • Fatty Degeneration

  • Non-Alcoholic Fatty Liver Disease Without Mention Of Non-Alcoholic Steatohepatitis

  • Nafld Without Nash

  • Nafld Without Mention Of Nash

Chromosome 17q12 Duplication Syndrome
  • 17q12 Microduplication Syndrome

  • Trisomy 17q12

  • 17q12 Duplication

  • 17q12 Microduplication

  • Dup(17)(Q12)

  • Recurrent Duplication Of 17q12

  • 17q12 Duplication Syndrome

  • 17q12 Recurrent Duplication

Acetyl-Coa Carboxylase Deficiency
  • Acetyl-Coa: Carboxylase Deficiency

  • ACACAD

  • Acaca Deficiency

  • Acc1 Deficiency

  • Acetyl-Coa Carboxylase 1 Deficiency

  • Acac Deficiency

  • Acc Deficiency

Myopathy
  • Muscular Diseases

  • Myopathies

Fatty Liver Disease
  • Alcoholic Fatty Liver

  • Fatty Liver

  • Fatty Liver, Alcoholic

  • Fatty Change Of Liver

  • Hepatic Lipidosis

  • Steatosis Of Liver

  • Fatty Liver Alcoholic

  • Steatohepatitis

  • Etoh Fatty Liver

  • Etoh Fatty Liver Metamorphosis

  • Fatty Etoh Liver Necrosis

Lipid Metabolism Disorder
  • Dyslipidemia

  • Disorder Of Fatty Acid Metabolism

  • Lipid Metabolism Disorders

  • Fatty Acid Metabolism Disorder

  • Disorder Of Lipid Metabolism

  • Abnormality Of Lipid Metabolism

  • Lipid Metabolism, Inborn Errors

  • Dyslipidemias

  • Disorders Of Lipid Metabolism

  • Congenital Disorders Of Lipid Metabolism

  • Inherited Disorders Of Lipid Metabolism

Hyperinsulinism
  • Hyperinsulinemia

Body Mass Index Quantitative Trait Locus 11
  • OBESITY

  • Obesity, Susceptibility To

  • Leanness, Inherited

  • Obesity, Susceptibility To, Bmiq11

  • Obesity, Mild, Early-Onset

  • Obesity, Association With

  • Obesity, Early-Onset, Susceptibility To

  • Obesity, Severe

  • Obesity, Severe, And Type Ii Diabetes

  • Obesity, Late-Onset

  • BMIQ11

  • Obesity Bmiq11

  • Obesity, Early-Onset

  • Obesity , Susceptibility To

  • Simple Obesity Nos

  • Excess Fat

  • Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

  • Adiposis

Biotin Deficiency
  • Biotin Deficiency Disease

  • B7 Deficiency

  • Biotan Vitamin Deficiency

Neurodegeneration With Brain Iron Accumulation
  • Nbia

  • Neurodegeneration With Brain Iron Accumulation Disorders

  • Neurodegeneration, With Brain Iron Accumulation

Type 2 Diabetes Mellitus
  • Insulin Resistance

  • NIDDM

  • Diabetes Mellitus, Non-Insulin-Dependent

  • Type 2 Diabetes

  • T2D

  • Noninsulin-Dependent Diabetes Mellitus

  • Diabetes Mellitus, Type Ii

  • Maturity-Onset Diabetes

  • Insulin Resistance, Severe, Digenic

  • Diabetes Mellitus, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent

  • Diabetes Mellitus, Noninsulin-Dependent, Association With

  • Diabetes Mellitus, Noninsulin-Dependent, Late Onset

  • Hypertension, Insulin Resistance-Related, Susceptibility To

  • Insulin Resistance, Susceptibility To

  • Non-Insulin-Dependent Diabetes Mellitus

  • Type Ii Diabetes Mellitus

  • Adult-Onset Diabetes Mellitus

  • Maturity-Onset Diabetes Mellitus

  • Diabetes Mellitus Type 2

  • Type Ii Diabetes

  • Type 2 Diabetes Mellitus, Susceptibility To

  • Diabetes, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Type 2, Susceptibility To

  • Diabetes Mellitus, Noninsulin-Dependent, 2

  • Diabetes Mellitus, Type Ii, Susceptibility To

  • Hypertension, Insulin Resistance-Related

  • Adult-Onset Diabetes

  • Aodm

  • Diabetes Mellitus, Adult-Onset

  • Diabetes Mellitus Type Ii

  • Diabetes Mellitus Type 2, Susceptibility To

  • Diabetes, Type Ii, Susceptibility To

  • Diabetes Type 2

  • Diabetes Mellitus

  • Adult Onset Diabetes

  • Maturity Onset Diabetes

  • Nonketotic Diabetes

  • Non-Insulin Dependent Diabetes Mellitus

  • T2dm - [Type 2 Diabetes Mellitus]

  • Niddm - [Non Insulin Dependent Diabetes Mellitus]

  • Dm2

  • Dm Type Ii

  • Diabetic Type 2

  • Insulin Requiring Type 2 Diabetes

  • Noninsulin Dependent Diabetes

  • Non-Insulin-Dependent Diabetes Mellitus Without Complications

  • Diabetes Due To Insulin Secretory Defect

  • Diabetes Mellitus Due To Insulin Secretory Defect

  • Non-Insulin-Dependent Diabetes Of The Young

  • Senile Diabetes

  • Nonketotic Hyperglycaemia

  • Stable Diabetes

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus ACACA MGD MGI:108451
Bos taurus ACACA VGNC VGNC:25519
Rattus norvegicus ACACA RGD RGD:621248
Macaca mulatta ACACA VGNC VGNC:69592
Felis catus ACACA VGNC VGNC:68645
Canis familiaris ACACA VGNC VGNC:37489
Others ACACA NCBI