ACACB (acetyl-CoA carboxylase beta)

2007-12-01  

Identity

HGNC
LOCATION
12q24.11
LOCUSID
ALIAS
ACC-beta,ACC2,ACCB,HACC275
FUSION GENES

Other Information

Locus ID:

NCBI: 32
MIM: 601557
HGNC: 85
Ensembl: ENSG00000076555

Variants:

dbSNP: 32
ClinVar: 32
TCGA: ENSG00000076555
COSMIC: ACACB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000076555ENST00000338432O00763
ENSG00000076555ENST00000377848O00763
ENSG00000076555ENST00000377854F8W8T8
ENSG00000076555ENST00000536440A0A087WUA1
ENSG00000076555ENST00000538526H0YGH5
ENSG00000076555ENST00000539864F5H5C3
ENSG00000076555ENST00000544726S4R3S7

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Fatty acid biosynthesisKEGGko00061
Pyruvate metabolismKEGGko00620
Propanoate metabolismKEGGko00640
Insulin signaling pathwayKEGGko04910
Adipocytokine signaling pathwayKEGGko04920
Fatty acid biosynthesisKEGGhsa00061
Pyruvate metabolismKEGGhsa00620
Propanoate metabolismKEGGhsa00640
Insulin signaling pathwayKEGGhsa04910
Adipocytokine signaling pathwayKEGGhsa04920
Metabolic pathwaysKEGGhsa01100
AMPK signaling pathwayKEGGhsa04152
AMPK signaling pathwayKEGGko04152
Glucagon signaling pathwayKEGGhsa04922
Glucagon signaling pathwayKEGGko04922
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Regulation of cholesterol biosynthesis by SREBP (SREBF)REACTOMER-HSA-1655829
Activation of gene expression by SREBF (SREBP)REACTOMER-HSA-2426168
Integration of energy metabolismREACTOMER-HSA-163685
ChREBP activates metabolic gene expressionREACTOMER-HSA-163765
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Biotin transport and metabolismREACTOMER-HSA-196780
Insulin resistanceKEGGhsa04931

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA33744PRKAA1GenePathwayassociated22722338
PA33745PRKAA2GenePathwayassociated22722338
PA33746PRKAB1GenePathwayassociated22722338
PA33747PRKAB2GenePathwayassociated22722338
PA33751PRKAG1GenePathwayassociated22722338
PA33752PRKAG2GenePathwayassociated22722338
PA33753PRKAG3GenePathwayassociated22722338

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
201689902010A single nucleotide polymorphism within the acetyl-coenzyme A carboxylase beta gene is associated with proteinuria in patients with type 2 diabetes.40
201689902010A single nucleotide polymorphism within the acetyl-coenzyme A carboxylase beta gene is associated with proteinuria in patients with type 2 diabetes.40
276357602016PHD3 Loss in Cancer Enables Metabolic Reliance on Fatty Acid Oxidation via Deactivation of ACC2.32
204680642010Association study of 182 candidate genes in anorexia nervosa.30
287681772017Acetyl CoA Carboxylase Inhibition Reduces Hepatic Steatosis but Elevates Plasma Triglycerides in Mice and Humans: A Bedside to Bench Investigation.28
199004102010Molecular mechanism for the regulation of human ACC2 through phosphorylation by AMPK.24
124139412002Dissociation of AMPK activity and ACCbeta phosphorylation in human muscle during prolonged exercise.20
175217002007Specific pattern of LKB1 and phospho-acetyl-CoA carboxylase protein immunostaining in human normal tissues and lung carcinomas.20
280812562017Inhibition of Acetyl-CoA Carboxylase 1 (ACC1) and 2 (ACC2) Reduces Proliferation and De Novo Lipogenesis of EGFRvIII Human Glioblastoma Cells.20

Citation

Dessen P

ACACB (acetyl-CoA carboxylase beta)

Atlas Genet Cytogenet Oncol Haematol. 2007-12-01

Online version: http://atlasgeneticsoncology.org/gene/49847/acacb-(acetyl-coa-carboxylase-beta)