ACACB acetyl-CoA carboxylase beta [Homo sapiens (human)] - Gene

Summary

Official Symbol: ACACBprovided by HGNC
Official Full Name: acetyl-CoA carboxylase betaprovided by HGNC
Primary source: HGNC:HGNC:85
See related: Ensembl:ENSG00000076555 MIM:601557; AllianceGenome:HGNC:85
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: ACC2; ACCB; ACCbeta; HACC275; ACACbeta; ACC-beta
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. ACC-beta is thought to control fatty acid oxidation by means of the ability of malonyl-CoA to inhibit carnitine-palmitoyl-CoA transferase I, the rate-limiting step in fatty acid uptake and oxidation by mitochondria. ACC-beta may be involved in the regulation of fatty acid oxidation, rather than fatty acid biosynthesis. [provided by RefSeq, Oct 2022]
Expression: Biased expression in fat (RPKM 94.8), liver (RPKM 8.9) and 6 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q24.11

Exon count:: 59

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (109111189..109268226)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (109086220..109243208)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (109554392..109706031)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ACACB is a novel metabolism-related biomarker in the prediction of response to cetuximab therapy inmetastatic colorectal cancer.
Title: ACACB is a novel metabolism-related biomarker in the prediction of response to cetuximab therapy inmetastatic colorectal cancer.
Acetyl-coenzyme A carboxylase beta gene polymorphism does not predict cardiovascular risk susceptibility in Chinese type 2 diabetic individuals.
Title: Acetyl-coenzyme A carboxylase beta gene polymorphism does not predict cardiovascular risk susceptibility in Chinese type 2 diabetic individuals.
Identification of core gene in obese type 2 diabetes patients using bioinformatics analysis.
Title: Identification of core gene in obese type 2 diabetes patients using bioinformatics analysis.
Faster lipid beta-oxidation rate by acetyl-CoA carboxylase 2 inhibition alleviates high-glucose-induced insulin resistance via SIRT1/PGC-1alpha in human podocytes.
Title: Faster lipid β-oxidation rate by acetyl-CoA carboxylase 2 inhibition alleviates high-glucose-induced insulin resistance via SIRT1/PGC-1α in human podocytes.
Results identified ACC2 amino acid mutations affecting specific inhibition of the isozyme by compound CD-017-0191. They form two clusters separated by 60-90 A: one located in the vicinity of the BC active site and the other one in the vicinity of the ACC1 phosphorylation sites in the central domain, suggesting a contribution of the interface of two ACC dimers in the polymer to the inhibitor binding site.
Title: Activity and structure of human acetyl-CoA carboxylase targeted by a specific inhibitor.
Targeted analysis of DNA methylation array revealed the mesenchymal stem cells in infants born to obese mothers had hypermethylation in genes regulating Fatty Acid Oxidation (PRKAG2, ACC2, CPT1A, SDHC) and corresponding lower mRNA content of these genes. Moreover, mesenchymal stem cells methylation was positively correlated with infant adiposity.
Title: Maternal obesity alters fatty acid oxidation, AMPK activity, and associated DNA methylation in mesenchymal stem cells from human infants.
ACC2 gene (ACACB) expression was decreased by 25% in HCC tissue compared to non-cancerous liver tissue.
Title: Inhibition of hepatic lipogenesis enhances liver tumorigenesis by increasing antioxidant defence and promoting cell survival.
of ACCs decreased polyunsaturated fatty acid (PUFA) concentrations in liver due to reduced malonyl-CoA, which is required for elongation of essential fatty acids.
Title: Acetyl CoA Carboxylase Inhibition Reduces Hepatic Steatosis but Elevates Plasma Triglycerides in Mice and Humans: A Bedside to Bench Investigation.
PHD3 loss in cancer enables metabolic reliance on fatty acid oxidation via deactivation of ACC2.
Title: PHD3 Loss in Cancer Enables Metabolic Reliance on Fatty Acid Oxidation via Deactivation of ACC2.
Inhibition of Acetyl-CoA Carboxylase 1 (ACC1) and 2 (ACC2) Reduces Proliferation and De Novo Lipogenesis of EGFRvIII Human Glioblastoma Cells
Title: Inhibition of Acetyl-CoA Carboxylase 1 (ACC1) and 2 (ACC2) Reduces Proliferation and De Novo Lipogenesis of EGFRvIII Human Glioblastoma Cells.

Submit: New GeneRIF Correction See all GeneRIFs (45)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of acetyl-CoA carboxylase beta (ACACB) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Pr55(Gag)	gag	HIV-1 Gag interacts with ACACB as demonstrated by proximity dependent biotinylation proteomics	PubMed
Tat	tat	Knockdown of acetyl-Coenzyme A carboxylase beta (ACACB) by siRNAs inhibits HIV LTR-beta-gal activation in the Tat transactivation assay	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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D12S1204E (e-PCR)
- UniSTS:9254

RH92633 (e-PCR)
- UniSTS:89189

SGC32926 (e-PCR)
- UniSTS:51336

STS-N32504 (e-PCR)
- UniSTS:23488

D12S1876 (e-PCR)
- UniSTS:78833

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables acetyl-CoA carboxylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables acetyl-CoA carboxylase activity	IDA Inferred from Direct Assay more info	PubMed
enables biotin binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in acetyl-CoA metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in energy homeostasis	IEA Inferred from Electronic Annotation more info
involved_in fatty acid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid oxidation	IEA Inferred from Electronic Annotation more info
involved_in glucose import	IEA Inferred from Electronic Annotation more info
involved_in intracellular aspartate homeostasis	IEA Inferred from Electronic Annotation more info
involved_in intracellular glutamate homeostasis	IEA Inferred from Electronic Annotation more info
involved_in lactic acid secretion	IEA Inferred from Electronic Annotation more info
involved_in malonyl-CoA biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of fatty acid beta-oxidation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in pentose-phosphate shunt	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of heart growth	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of lipid storage	IEA Inferred from Electronic Annotation more info
involved_in protein homotetramerization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cardiac muscle hypertrophy in response to stress	IEA Inferred from Electronic Annotation more info
involved_in regulation of glucose metabolic process	IEA Inferred from Electronic Annotation more info
involved_in response to nutrient	IEA Inferred from Electronic Annotation more info
involved_in response to organic cyclic compound	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in tricarboxylic acid metabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
part_of mitochondrial fatty acid beta-oxidation multienzyme complex	IEA Inferred from Electronic Annotation more info
located_in mitochondrial outer membrane	TAS Traceable Author Statement more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: acetyl-CoA carboxylase 2

Names: acetyl-Coenzyme A carboxylase beta

NP_001084.3

EC 6.4.1.2

NP_001399663.1

EC 6.4.1.2

NP_001399664.1

EC 6.4.1.2

NP_001399665.1

EC 6.4.1.2

NP_001399666.1

EC 6.4.1.2

NP_001399667.1

EC 6.4.1.2

NP_001399668.1

EC 6.4.1.2

NP_001399670.1

EC 6.4.1.2

NP_001399671.1

EC 6.4.1.2

XP_011536565.1

EC 6.4.1.2

XP_011536566.1

EC 6.4.1.2

XP_011536567.1

EC 6.4.1.2

XP_047284720.1

EC 6.4.1.2

XP_047284721.1

EC 6.4.1.2

XP_047284722.1

EC 6.4.1.2

XP_047284723.1

EC 6.4.1.2

XP_047284724.1

EC 6.4.1.2

XP_054227889.1

EC 6.4.1.2

XP_054227890.1

EC 6.4.1.2

XP_054227891.1

EC 6.4.1.2

XP_054227892.1

EC 6.4.1.2

XP_054227893.1

EC 6.4.1.2

XP_054227894.1

EC 6.4.1.2

XP_054227895.1

EC 6.4.1.2

NCBI Reference Sequences (RefSeq)

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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

NG_046907.1 RefSeqGene

Range

10404..162043

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001093.4 → NP_001084.3 acetyl-CoA carboxylase 2 isoform a

See identical proteins and their annotated locations for NP_001084.3

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-3 all encode the same isoform (a).

Source sequence(s)

AC007637

Consensus CDS

CCDS31898.1

UniProtKB/Swiss-Prot

A6NK36, O00763, Q16852, Q1HEC1, Q6KE87, Q6KE89, Q6TY48

Related

ENSP00000341044.7, ENST00000338432.12

Conserved Domains (7) summary

COG0439
Location:260 → 763

AccC; Biotin carboxylase [Lipid transport and metabolism]

pfam00289
Location:260 → 379

CPSase_L_chain; Carbamoyl-phosphate synthase L chain, N-terminal domain

pfam00364
Location:895 → 961

Biotin_lipoyl; Biotin-requiring enzyme

pfam01039
Location:1780 → 2328

Carboxyl_trans; Carboxyl transferase domain

pfam02785
Location:650 → 757

Biotin_carb_C; Biotin carboxylase C-terminal domain

pfam08326
Location:962 → 1688

ACC_central; Acetyl-CoA carboxylase, central region

cl17255
Location:420 → 613

ATP-grasp_4; ATP-grasp domain
NM_001412734.1 → NP_001399663.1 acetyl-CoA carboxylase 2 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1-3 all encode the same isoform (a).

Source sequence(s)

AC007637

UniProtKB/Swiss-Prot

A6NK36, O00763, Q16852, Q1HEC1, Q6KE87, Q6KE89, Q6TY48
NM_001412735.1 → NP_001399664.1 acetyl-CoA carboxylase 2 isoform a

Status: REVIEWED

Source sequence(s)

AC007637

UniProtKB/Swiss-Prot

A6NK36, O00763, Q16852, Q1HEC1, Q6KE87, Q6KE89, Q6TY48

Related

ENSP00000367079.3, ENST00000377848.7
NM_001412736.1 → NP_001399665.1 acetyl-CoA carboxylase 2 isoform b

Status: REVIEWED

Source sequence(s)

AC007637
NM_001412737.1 → NP_001399666.1 acetyl-CoA carboxylase 2 isoform c

Status: REVIEWED

Source sequence(s)

AC007637
NM_001412738.1 → NP_001399667.1 acetyl-CoA carboxylase 2 isoform d

Status: REVIEWED

Source sequence(s)

AC007637
NM_001412739.1 → NP_001399668.1 acetyl-CoA carboxylase 2 isoform e

Status: REVIEWED

Source sequence(s)

AC007637
NM_001412741.1 → NP_001399670.1 acetyl-CoA carboxylase 2 isoform f

Status: REVIEWED

Source sequence(s)

AC007637
NM_001412742.1 → NP_001399671.1 acetyl-CoA carboxylase 2 isoform g

Status: REVIEWED

Source sequence(s)

AC007637

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

109111189..109268226

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047428764.1 → XP_047284720.1 acetyl-CoA carboxylase 2 isoform X2
XM_011538263.4 → XP_011536565.1 acetyl-CoA carboxylase 2 isoform X1

Conserved Domains (7) summary

COG0439
Location:260 → 763

AccC; Biotin carboxylase [Lipid transport and metabolism]

pfam00289
Location:260 → 379

CPSase_L_chain; Carbamoyl-phosphate synthase L chain, N-terminal domain

pfam00364
Location:895 → 961

Biotin_lipoyl; Biotin-requiring enzyme

pfam01039
Location:1717 → 2265

Carboxyl_trans; Carboxyl transferase domain

pfam02785
Location:650 → 757

Biotin_carb_C; Biotin carboxylase C-terminal domain

pfam08326
Location:962 → 1625

ACC_central; Acetyl-CoA carboxylase, central region

cl17255
Location:420 → 613

ATP-grasp_4; ATP-grasp domain
XM_011538264.4 → XP_011536566.1 acetyl-CoA carboxylase 2 isoform X2

Conserved Domains (7) summary

COG0439
Location:51 → 554

AccC; Biotin carboxylase [Lipid transport and metabolism]

pfam00289
Location:51 → 170

CPSase_L_chain; Carbamoyl-phosphate synthase L chain, N-terminal domain

pfam00364
Location:686 → 752

Biotin_lipoyl; Biotin-requiring enzyme

pfam01039
Location:1571 → 2119

Carboxyl_trans; Carboxyl transferase domain

pfam02785
Location:441 → 548

Biotin_carb_C; Biotin carboxylase C-terminal domain

pfam08326
Location:753 → 1479

ACC_central; Acetyl-CoA carboxylase, central region

cl17255
Location:211 → 404

ATP-grasp_4; ATP-grasp domain
XM_047428768.1 → XP_047284724.1 acetyl-CoA carboxylase 2 isoform X6
XM_047428766.1 → XP_047284722.1 acetyl-CoA carboxylase 2 isoform X4
XM_047428767.1 → XP_047284723.1 acetyl-CoA carboxylase 2 isoform X5
XM_011538265.3 → XP_011536567.1 acetyl-CoA carboxylase 2 isoform X7

Conserved Domains (6) summary

COG0439
Location:260 → 763

AccC; Biotin carboxylase [Lipid transport and metabolism]

pfam00289
Location:260 → 379

CPSase_L_chain; Carbamoyl-phosphate synthase L chain, N-terminal domain

pfam00364
Location:895 → 961

Biotin_lipoyl; Biotin-requiring enzyme

pfam02785
Location:650 → 757

Biotin_carb_C; Biotin carboxylase C-terminal domain

pfam08326
Location:962 → 1294

ACC_central; Acetyl-CoA carboxylase, central region

cl17255
Location:420 → 613

ATP-grasp_4; ATP-grasp domain
XM_047428765.1 → XP_047284721.1 acetyl-CoA carboxylase 2 isoform X3