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Aliases for ACACB Gene

Aliases for ACACB Gene

  • Acetyl-CoA Carboxylase Beta 2 3
  • ACC2 3 4 6
  • ACCB 3 4 6
  • Acetyl-Coenzyme A Carboxylase Beta 2 3
  • Acetyl-CoA Carboxylase 2 2 3
  • ACC-Beta 3 4
  • EC 6.4.1.2 4
  • HACC275 3

External Ids for ACACB Gene

Summaries for ACACB Gene

Entrez Gene Summary for ACACB Gene

  • 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. There is evidence for the presence of two ACC-beta isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for ACACB Gene

ACACB (Acetyl-CoA Carboxylase Beta) is a Protein Coding gene. Diseases associated with ACACB include biotin deficiency. Among its related pathways are Disease and Metabolism. GO annotations related to this gene include biotin carboxylase activity and acetyl-CoA carboxylase activity.

UniProtKB/Swiss-Prot for ACACB Gene

  • Catalyzes the ATP-dependent carboxylation of acetyl-CoA to malonyl-CoA. Carries out three functions: biotin carboxyl carrier protein, biotin carboxylase and carboxyltransferase. Involved in inhibition of fatty acid and glucose oxidation and enhancement of fat storage (By similarity). May play a role in regulation of mitochondrial fatty acid oxidation through malonyl-CoA-dependent inhibition of carnitine palmitoyltransferase 1 (By similarity).

Gene Wiki entry for ACACB Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACACB Gene

Genomics for ACACB Gene

Genomic Location for ACACB Gene

Start:
109,116,431 bp from pter
End:
109,268,226 bp from pter
Size:
151,796 bases
Orientation:
Plus strand

Genomic View for ACACB Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ACACB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACACB Gene

Regulatory Elements for ACACB Gene

Proteins for ACACB Gene

  • Protein details for ACACB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00763-ACACB_HUMAN
    Recommended name:
    Acetyl-CoA carboxylase 2
    Protein Accession:
    O00763
    Secondary Accessions:
    • A6NK36
    • Q16852
    • Q1HEC1
    • Q6KE87
    • Q6KE89
    • Q6TY48

    Protein attributes for ACACB Gene

    Size:
    2458 amino acids
    Molecular mass:
    276541 Da
    Cofactor:
    Name=biotin; Xref=ChEBI:CHEBI:57586;
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Note=Binds 2 manganese ions per subunit.;
    Quaternary structure:
    • Monomer, homodimer, and homotetramer. Can form filamentous polymers. Interacts with MID1IP1; interaction with MID1IP1 promotes oligomerization and increases its activity.
    SequenceCaution:
    • Sequence=AAB58382.1; Type=Miscellaneous discrepancy; Note=Many Frameshifts and conflicts.; Evidence={ECO:0000305}; Sequence=CAE01470.2; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ACACB Gene

    Alternative splice isoforms for ACACB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACACB Gene

Proteomics data for ACACB Gene at MOPED

Post-translational modifications for ACACB Gene

  • Phosphorylated by AMPK, leading to inactivation of the enzyme. Required for the maintenance of skeletal muscle lipid and glucose homeostasis (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ACACB Gene

No data available for DME Specific Peptides for ACACB Gene

Domains for ACACB Gene

Gene Families for ACACB Gene

UniProtKB/Swiss-Prot:

ACACB_HUMAN
Domain:
  • Contains 1 ATP-grasp domain.:
    • O00763
  • Contains 1 biotin carboxylation domain.:
    • O00763
  • Contains 1 biotinyl-binding domain.:
    • O00763
  • Contains 1 carboxyltransferase domain.:
    • O00763
genes like me logo Genes that share domains with ACACB: view

Function for ACACB Gene

Molecular function for ACACB Gene

GENATLAS Biochemistry: acetyl-CoA carboxylase beta,280kDa,expressed in heart and skeletal muscle,liver,colocalizing with CPT1 at the outer mitochondrial membrane,providing the malonyl-CoA allosterically regulating CPT1 activity,involved in the regulation of fatty acid beta-oxidation and energy production
UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=120 uM for ATP {ECO:0000269 PubMed:16854592}; KM=110 uM for ATP (isoform 2) {ECO:0000269 PubMed:19190759}; KM=58 uM for acetyl-CoA {ECO:0000269 PubMed:16854592}; KM=94 uM for acetyl-CoA (isoform 3) {ECO:0000269 PubMed:19190759}; KM=6.5 mM for NaHCO3 (isoform 3) {ECO:0000269 PubMed:19190759}; KM=3.0 mM for NaHCO(3) {ECO:0000269 PubMed:16854592};
UniProtKB/Swiss-Prot CatalyticActivity: ATP + acetyl-CoA + HCO(3)(-) = ADP + phosphate + malonyl-CoA.
UniProtKB/Swiss-Prot CatalyticActivity: ATP + biotin-[carboxyl-carrier-protein] + HCO(3)(-) = ADP + phosphate + carboxy-biotin-[carboxyl-carrier-protein].
UniProtKB/Swiss-Prot EnzymeRegulation: Activity is increased by oligomerization. Activated by citrate. Citrate and MID1IP1 promote oligomerization. Inhibited by malonyl-CoA.
UniProtKB/Swiss-Prot Function: Catalyzes the ATP-dependent carboxylation of acetyl-CoA to malonyl-CoA. Carries out three functions: biotin carboxyl carrier protein, biotin carboxylase and carboxyltransferase. Involved in inhibition of fatty acid and glucose oxidation and enhancement of fat storage (By similarity). May play a role in regulation of mitochondrial fatty acid oxidation through malonyl-CoA-dependent inhibition of carnitine palmitoyltransferase 1 (By similarity).

Enzyme Numbers (IUBMB) for ACACB Gene

Gene Ontology (GO) - Molecular Function for ACACB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0003989 acetyl-CoA carboxylase activity IDA 20952656
GO:0004075 biotin carboxylase activity IEA --
GO:0005515 protein binding IPI 16794074
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with ACACB: view
genes like me logo Genes that share phenotypes with ACACB: view

Animal Models for ACACB Gene

MGI Knock Outs for ACACB:

miRNA for ACACB Gene

miRTarBase miRNAs that target ACACB

No data available for Transcription Factor Targeting and HOMER Transcription for ACACB Gene

Localization for ACACB Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACACB Gene

Mitochondrion. Nucleus. Endomembrane system. Note=May associate with membranes.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ACACB Gene COMPARTMENTS Subcellular localization image for ACACB gene
Compartment Confidence
cytosol 4
plasma membrane 3
chloroplast 2
mitochondrion 2
peroxisome 2
endoplasmic reticulum 1
extracellular 1
nucleus 1

Gene Ontology (GO) - Cellular Components for ACACB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 10677481
GO:0005739 mitochondrion IDA 10677481
GO:0005741 mitochondrial outer membrane TAS --
GO:0005829 cytosol TAS --
GO:0012505 endomembrane system IEA --
genes like me logo Genes that share ontologies with ACACB: view

Pathways for ACACB Gene

SuperPathways for ACACB Gene

Superpath Contained pathways
1 Defective BTD causes biotidinase deficiency
2 Metabolism
3 Fatty acid metabolism
4 Fatty acid, triacylglycerol, and ketone body metabolism
5 Integration of energy metabolism
genes like me logo Genes that share pathways with ACACB: view

UniProtKB/Swiss-Prot O00763-ACACB_HUMAN

  • Pathway: Lipid metabolism; malonyl-CoA biosynthesis; malonyl-CoA from acetyl-CoA: step 1/1

Gene Ontology (GO) - Biological Process for ACACB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006084 acetyl-CoA metabolic process IDA 20952656
GO:0006112 energy reserve metabolic process TAS --
GO:0006633 fatty acid biosynthetic process IEA --
GO:0006766 vitamin metabolic process TAS --
GO:0006767 water-soluble vitamin metabolic process TAS --
genes like me logo Genes that share ontologies with ACACB: view

Compounds for ACACB Gene

(7) HMDB Compounds for ACACB Gene

Compound Synonyms Cas Number PubMed IDs
Acetyl-CoA
  • S-Acetyl coenzyme A
72-89-9
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Biotin
  • (+)-Biotin
58-85-5
Malonyl-CoA
  • Malonyl Coenzyme A
524-14-1

(5) Drugbank Compounds for ACACB Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
(2S)-2-(4-{[3-CHLORO-5-(TRIFLUOROMETHYL)PYRIDIN-2-YL]OXY}PHENOXY)PROPANOIC ACID
target
2-[4-(2,4-Dichlorophenoxy)Phenoxy]Propanoic Acid
target
Adenine
  • 1H-Purin-6-amine
73-24-5 target
Biotin
  • (+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valeric acid
58-85-5 target
Soraphen A
122547-72-2 target

(1) IUPHAR Ligand for ACACB Gene

Ligand Type Action Affinity Pubmed IDs
TOFA Inhibitor Inhibition

(9) Novoseek inferred chemical compound relationships for ACACB Gene

Compound -log(P) Hits PubMed IDs
acetyl-coa 90.4 31
aicar 69.8 1
fatty acid 69.3 22
carnitine 52.2 1
sterol 49.1 1
genes like me logo Genes that share compounds with ACACB: view

Transcripts for ACACB Gene

Unigene Clusters for ACACB Gene

Acetyl-CoA carboxylase beta:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ACACB Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^
SP1: - - -
SP2: - - - - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

ExUns: 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31a · 31b ^ 32 ^ 33 ^ 34 ^ 35 ^ 36a · 36b ^ 37a · 37b ^ 38 ^ 39 ^ 40 ^ 41a · 41b ^
SP1: - - -
SP2: - - -
SP3: -
SP4: - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

ExUns: 42 ^ 43 ^ 44a · 44b ^ 45a · 45b ^ 46a · 46b ^ 47a · 47b ^ 48 ^ 49 ^ 50a · 50b ^ 51 ^ 52 ^ 53 ^ 54 ^ 55 ^ 56 ^ 57a · 57b
SP1: - - - -
SP2: - - - -
SP3: - - -
SP4:
SP5: -
SP6: - -
SP7:
SP8: -
SP9:
SP10:
SP11:

Relevant External Links for ACACB Gene

GeneLoc Exon Structure for
ACACB
ECgene alternative splicing isoforms for
ACACB

Expression for ACACB Gene

mRNA expression in normal human tissues for ACACB Gene

mRNA differential expression in normal tissues according to GTEx for ACACB Gene

This gene is overexpressed in Muscle - Skeletal (8.8), Adipose - Visceral (Omentum) (6.1), and Adipose - Subcutaneous (5.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for ACACB Gene

SOURCE GeneReport for Unigene cluster for ACACB Gene Hs.234898

mRNA Expression by UniProt/SwissProt for ACACB Gene

O00763-ACACB_HUMAN
Tissue specificity: Widely expressed with highest levels in heart, skeletal muscle, liver, adipose tissue, mammary gland, adrenal gland and colon (PubMed:9099716). Isoform 3 is expressed in skeletal muscle, adipose tissue and liver (at protein level) (PubMed:19190759). Isoform 3 is detected at high levels in adipose tissue with lower levels in heart, liver, skeletal muscle and testis (PubMed:19190759).
genes like me logo Genes that share expressions with ACACB: view

Orthologs for ACACB Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ACACB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACACB 36
  • 99.38 (n)
  • 99.51 (a)
ACACB 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ACACB 36
  • 86.77 (n)
  • 87.58 (a)
ACACB 37
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACACB 36
  • 87.89 (n)
  • 90.42 (a)
ACACB 37
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acacb 36
  • 85.01 (n)
  • 88.81 (a)
Acacb 16
Acacb 37
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACACB 37
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACACB 37
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acacb 36
  • 83.33 (n)
  • 85.28 (a)
chicken
(Gallus gallus)
Aves ACACB 36
  • 75.93 (n)
  • 79.94 (a)
ACACB 37
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACACB 37
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acacb 36
  • 73.01 (n)
  • 80.47 (a)
zebrafish
(Danio rerio)
Actinopterygii acacb 36
  • 70.85 (n)
  • 76.2 (a)
acacb 37
  • 78 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta ACC 37
  • 55 (a)
OneToMany
CG11198 38
  • 59 (a)
worm
(Caenorhabditis elegans)
Secernentea pod-2 37
  • 33 (a)
ManyToMany
T28F3.5 37
  • 36 (a)
ManyToMany
T28F3.5 38
  • 39 (a)
W09B6.1 38
  • 44 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ACC1 37
  • 46 (a)
OneToMany
ACC1 39
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 61 (a)
OneToMany
Species with no ortholog for ACACB:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ACACB Gene

ENSEMBL:
Gene Tree for ACACB (if available)
TreeFam:
Gene Tree for ACACB (if available)

Paralogs for ACACB Gene

Selected SIMAP similar genes for ACACB Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with ACACB: view

No data available for Paralogs for ACACB Gene

Variants for ACACB Gene

Sequence variations from dbSNP and Humsavar for ACACB Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs12013 -- 109,267,806(+) CGGGG(A/C/G)TGGAG utr-variant-3-prime, nc-transcript-variant
rs34261 -- 109,114,490(+) GGTTT(A/G)CAGCA upstream-variant-2KB
rs34262 -- 109,114,670(+) GAGAC(C/T)TTGTC upstream-variant-2KB
rs34263 -- 109,115,044(+) TGTCT(A/G)GGGAG upstream-variant-2KB
rs34264 -- 109,156,604(+) TTTTT(G/T)GGGGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ACACB Gene

Variant ID Type Subtype PubMed ID
nsv455712 CNV Gain 19166990
nsv528323 CNV Gain 19592680
nsv526593 CNV Loss 19592680
esv2746347 CNV Deletion 23290073
nsv899512 CNV Loss 21882294
nsv507674 CNV Insertion 20534489
esv2158529 CNV Deletion 18987734
esv2746348 CNV Deletion 23290073
esv2673080 CNV Deletion 23128226
esv1456600 CNV Deletion 17803354
nsv899513 CNV Gain 21882294
esv2671931 CNV Deletion 23128226

Relevant External Links for ACACB Gene

HapMap Linkage Disequilibrium report
ACACB
Human Gene Mutation Database (HGMD)
ACACB

Disorders for ACACB Gene

(1) MalaCards Diseases for ACACB Gene

Search for ACACB Gene in MalaCards »

(4) Novoseek inferred disease relationships for ACACB Gene

Disease -log(P) Hits PubMed IDs
fatty liver 41.7 1
insulin resistance 40.1 1
insulin sensitivity 38.7 1
obesity 34.7 3

Relevant External Links for ACACB

Genetic Association Database (GAD)
ACACB
Human Genome Epidemiology (HuGE) Navigator
ACACB
genes like me logo Genes that share disorders with ACACB: view

No data available for UniProtKB/Swiss-Prot for ACACB Gene

Publications for ACACB Gene

  1. Human acetyl-CoA carboxylase 2. Molecular cloning, characterization, chromosomal mapping, and evidence for two isoforms. (PMID: 9099716) Abu-Elheiga L. … Wakil S.J. (J. Biol. Chem. 1997) 3 4 23
  2. The subcellular localization of acetyl-CoA carboxylase 2. (PMID: 10677481) Abu-Elheiga L. … Wakil S.J. (Proc. Natl. Acad. Sci. U.S.A. 2000) 3 4 23
  3. Expression, purification, and characterization of human and rat acetyl coenzyme A carboxylase (ACC) isozymes. (PMID: 16854592) Cheng D. … Tamura J.K. (Protein Expr. Purif. 2007) 3 4 23
  4. ACC2 is expressed at high levels in human white adipose and has an isoform with a novel N-terminus [corrected]. (PMID: 19190759) Castle J.C. … Johnson J.M. (PLoS ONE 2009) 3 4 23
  5. Exploring genetic variations that may be associated with the direct effects of some antipsychotics on lipid levels. (PMID: 18031993) de Leon J. … Diaz F.J. (Schizophr. Res. 2008) 3 23 49

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Sources for ACACB Gene

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