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 ... See more...

Aliases for ACACB Gene

Aliases for ACACB Gene

  • Acetyl-CoA Carboxylase Beta 2 3 5
  • Acetyl-CoA Carboxylase 2 2 3 4
  • Acetyl-Coenzyme A Carboxylase Beta 2 3
  • ACC-Beta 3 4
  • ACC2 3 4
  • ACCB 3 4
  • EC 6.4.1.2 4
  • HACC275 3

External Ids for ACACB Gene

Previous GeneCards Identifiers for ACACB Gene

  • GC12P108635
  • GC12P109416
  • GC12P108039
  • GC12P108017
  • GC12P108062
  • GC12P109577
  • GC12P106595

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 and Body Mass Index Quantitative Trait Locus 11. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Integration of energy metabolism. Gene Ontology (GO) annotations related to this gene include ligase activity and biotin binding. An important paralog of this gene is ACACA.

UniProtKB/Swiss-Prot Summary for ACACB Gene

  • Mitochondrial enzyme that catalyzes the carboxylation of acetyl-CoA to malonyl-CoA and plays a central role in fatty acid metabolism (PubMed:16854592, PubMed:19236960, PubMed:20457939, PubMed:20952656, PubMed:19900410, PubMed:26976583). Catalyzes a 2 steps reaction starting with the ATP-dependent carboxylation of the biotin carried by the biotin carboxyl carrier (BCC) domain followed by the transfer of the carboxyl group from carboxylated biotin to acetyl-CoA (PubMed:19236960, PubMed:20457939, PubMed:20952656, PubMed:26976583). Through the production of malonyl-CoA that allosterically inhibits carnitine palmitoyltransferase 1 at the mitochondria, negatively regulates fatty acid oxidation (By similarity). Together with its cytosolic isozyme ACACA, which is involved in de novo fatty acid biosynthesis, promotes lipid storage (By similarity).

Tocris Summary for ACACB Gene

Gene Wiki entry for ACACB Gene

Additional gene information for ACACB Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACACB Gene

Genomics for ACACB Gene

GeneHancer (GH) Regulatory Elements for ACACB Gene

Promoters and enhancers for ACACB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J109109 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 516.3 +3.3 3251 10.1 FOXK2 ZBTB40 CTCF TCF12 POLR2G NCOR1 GTF2E2 KDM6A RFX1 TOE1 ACACB MYO1H ALKBH2 UNG DAO ENSG00000256139 lnc-ALKBH2-3 LOC105369974
GH12J109130 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 515.7 +20.7 20691 3.5 ZIC2 RBM25 POLR2A CHD2 ZFHX2 ZFP91 SCRT1 RAD21 RXRA GLIS1 ACACB LOC105369974 lnc-ALKBH2-3 ALKBH2 UNG MYO1H TRPV4 piR-55937
GH12J109153 Promoter/Enhancer 1.8 Ensembl ENCODE CraniofacialAtlas dbSUPER 19.3 +43.8 43750 2.5 TCF12 NRF1 PHF8 ZIC2 ZBTB10 ZBTB26 RFX1 KLF7 CHD1 CTBP1 ACACB LOC105369974 piR-55937
GH12J109096 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 14 -12.5 -12494 3.4 HNRNPK FOXK2 SIN3A MYC NRF1 POLR2G USF1 SP1 NCOR1 PHF8 UNG ALKBH2 WSCD2 ACACB UBE3B SART3 MYO1H lnc-ACACB-2
GH12J109091 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 13.1 -18.2 -18204 2.4 ZBTB40 ZNF217 EP300 CTCF SIN3A TCF12 MYC NRF1 USF1 POLR2G ALKBH2 lnc-ALKBH2-1 piR-43164-012 ACACB SART3 UBE3B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACACB on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACACB

Top Transcription factor binding sites by QIAGEN in the ACACB gene promoter:
  • AP-1
  • c-Fos
  • c-Jun
  • C/EBPalpha
  • MAZR
  • RFX1
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for ACACB Gene

Genomic Locations for ACACB Gene
chr12:109,111,184-109,268,226
(GRCh38/hg38)
Size:
157,043 bases
Orientation:
Plus strand
chr12:109,554,400-109,706,031
(GRCh37/hg19)
Size:
151,632 bases
Orientation:
Plus strand

Genomic View for ACACB Gene

Genes around ACACB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACACB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACACB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Monomer, homodimer, and homotetramer (PubMed:20952656, PubMed:18772397). Forms filamentous polymers (PubMed:20457939, PubMed:20952656, PubMed:19900410). Interacts with MID1IP1; interaction with MID1IP1 promotes oligomerization and increases its activity in a citrate-dependent manner (PubMed:20952656, PubMed:20457939).
    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

Post-translational modifications for ACACB Gene

  • The biotin cofactor is covalently attached to the central biotinyl-binding domain and is required for the catalytic activity.
  • Phosphorylation at Ser-222 by AMPK inactivates the enzyme (PubMed:12488245). Required for the maintenance of skeletal muscle lipid and glucose homeostasis (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ACACB Gene

Domains & Families for ACACB Gene

Gene Families for ACACB Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ACACB Gene

GenScript: Design optimal peptide antigens:
  • ACC-beta (ACACB_HUMAN)
  • ACACB protein (Q4G170_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O00763

UniProtKB/Swiss-Prot:

ACACB_HUMAN :
  • Consists of an N-terminal biotin carboxylation/carboxylase (BC) domain that catalyzes the ATP-dependent transient carboxylation of the biotin covalently attached to the central biotinyl-binding/biotin carboxyl carrier (BCC) domain (Probable). The C-terminal carboxyl transferase (CT) domain catalyzes the transfer of the carboxyl group from carboxylated biotin to acetyl-CoA to produce malonyl-CoA (Probable).
Domain:
  • Consists of an N-terminal biotin carboxylation/carboxylase (BC) domain that catalyzes the ATP-dependent transient carboxylation of the biotin covalently attached to the central biotinyl-binding/biotin carboxyl carrier (BCC) domain (Probable). The C-terminal carboxyl transferase (CT) domain catalyzes the transfer of the carboxyl group from carboxylated biotin to acetyl-CoA to produce malonyl-CoA (Probable).
genes like me logo Genes that share domains with ACACB: view

Function for ACACB Gene

Molecular function for ACACB Gene

UniProtKB/Swiss-Prot Function:
Mitochondrial enzyme that catalyzes the carboxylation of acetyl-CoA to malonyl-CoA and plays a central role in fatty acid metabolism (PubMed:16854592, PubMed:19236960, PubMed:20457939, PubMed:20952656, PubMed:19900410, PubMed:26976583). Catalyzes a 2 steps reaction starting with the ATP-dependent carboxylation of the biotin carried by the biotin carboxyl carrier (BCC) domain followed by the transfer of the carboxyl group from carboxylated biotin to acetyl-CoA (PubMed:19236960, PubMed:20457939, PubMed:20952656, PubMed:26976583). Through the production of malonyl-CoA that allosterically inhibits carnitine palmitoyltransferase 1 at the mitochondria, negatively regulates fatty acid oxidation (By similarity). Together with its cytosolic isozyme ACACA, which is involved in de novo fatty acid biosynthesis, promotes lipid storage (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=acetyl-CoA + ATP + hydrogencarbonate = ADP + H(+) + malonyl-CoA + phosphate; Xref=Rhea:RHEA:11308, ChEBI:CHEBI:15378, ChEBI:CHEBI:17544, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:57288, ChEBI:CHEBI:57384, ChEBI:CHEBI:456216; EC=6.4.1.2; Evidence={ECO:0000269 PubMed:16854592, ECO:0000269 PubMed:19236960, ECO:0000269 PubMed:19900410, ECO:0000269 PubMed:20457939, ECO:0000269 PubMed:20952656, ECO:0000269 PubMed:26976583}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:11309; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activity is increased by oligomerization of the protein into filaments (PubMed:19900410). The oligomerization and the activity of the enzyme are inhibited by phosphorylation at Ser-222 (PubMed:12488245). Inhibited by its product, malonyl-CoA (PubMed:16854592). Activated by citrate (PubMed:16854592). Activation by MID1IP1 is citrate-dependent (PubMed:20457939). Soraphen A, inhibits the enzyme by preventing the formation of active filamentous oligomers (Probable).
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}; pH dependence: Optimum pH is 7.5. {ECO:0000305 PubMed:19236960};
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

Enzyme Numbers (IUBMB) for ACACB Gene

Phenotypes From GWAS Catalog for ACACB Gene

Gene Ontology (GO) - Molecular Function for ACACB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0003989 acetyl-CoA carboxylase activity IEA,IDA 19236960
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:

Animal Model Products

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ACACB Gene

Localization for ACACB Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACACB Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACACB gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 5
plasma membrane 3
extracellular 2
peroxisome 2
endoplasmic reticulum 2
cytoskeleton 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ACACB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 10677481
GO:0005739 mitochondrion IEA,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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ACACB Gene

Pathways & Interactions for ACACB Gene

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

Pathways by source for ACACB Gene

2 GeneGo (Thomson Reuters) pathways for ACACB Gene
  • Development_Leptin signaling via PI3K-dependent pathway
  • Saturated fatty acid biosynthesis
1 Qiagen pathway for ACACB Gene
  • AMPK Enzyme Complex Pathway
1 Cell Signaling Technology pathway for ACACB Gene

UniProtKB/Swiss-Prot O00763-ACACB_HUMAN

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

SIGNOR curated interactions for ACACB Gene

Is inactivated by:

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:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006633 fatty acid biosynthetic process IEA --
GO:0006853 carnitine shuttle TAS --
genes like me logo Genes that share ontologies with ACACB: view

Drugs & Compounds for ACACB Gene

(12) Drugs for ACACB Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Biotin Approved, Investigational Nutra Target 59
Adenine Approved Nutra Target 0
Phosphoric acid Approved Pharma 0
Manganese Approved Nutra 51
(2S)-2-(4-{[3-CHLORO-5-(TRIFLUOROMETHYL)PYRIDIN-2-YL]OXY}PHENOXY)PROPANOIC ACID Experimental Pharma Target 0

(9) Additional Compounds for ACACB Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • AcCoA
  • Acetyl coenzyme A
  • S-Acetyl-CoA
  • S-Acetyl-coenzyme A
  • Ac-CoA
72-89-9
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
Carbonic acid
  • [co(OH)2]
  • Dihydrogen carbonate
  • H2CO3
  • Koehlensaeure
  • Carbonate
71-52-3, 463-79-6
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2
genes like me logo Genes that share compounds with ACACB: view

Transcripts for ACACB Gene

mRNA/cDNA for ACACB Gene

1 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

Expression for ACACB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ACACB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Muscle - Skeletal (x8.8), Adipose - Visceral (Omentum) (x6.1), and Adipose - Subcutaneous (x5.9).

Protein differential expression in normal tissues from HIPED for ACACB Gene

This gene is overexpressed in Serum (64.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ACACB Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACACB

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).

Evidence on tissue expression from TISSUES for ACACB Gene

  • Liver(4.8)
  • Heart(4.5)
  • Muscle(3.5)
genes like me logo Genes that share expression patterns with ACACB: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ACACB Gene

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 31 30
  • 99.38 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACACB 31
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACACB 31 30
  • 87.89 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ACACB 31 30
  • 86.77 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Acacb 17 31 30
  • 85.01 (n)
rat
(Rattus norvegicus)
Mammalia Acacb 30
  • 83.33 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ACACB 31
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACACB 31 30
  • 75.93 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACACB 31
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acacb 30
  • 73.01 (n)
zebrafish
(Danio rerio)
Actinopterygii acacb 31 30
  • 70.85 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG11198 32
  • 59 (a)
ACC 31
  • 55 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea W09B6.1 32
  • 44 (a)
T28F3.5 31 32
  • 36 (a)
ManyToMany
pod-2 31
  • 33 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ACC1 33 31
  • 46 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 61 (a)
OneToMany
Species where no ortholog for ACACB was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ACACB: view image

Paralogs for ACACB Gene

Paralogs for ACACB Gene

(1) SIMAP similar genes for ACACB Gene using alignment to 8 proteins:

  • ACACB_HUMAN
  • E9PEW7_HUMAN
  • F5H5C3_HUMAN
  • F6QQI9_HUMAN
  • F8W8T8_HUMAN
  • H0YGH5_HUMAN
  • Q4G170_HUMAN
  • S4R3S7_HUMAN
genes like me logo Genes that share paralogs with ACACB: view

Variants for ACACB Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACACB Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs373209583 Benign: not specified 109,188,171(+) CTCCTTCCT/C INTRON_VARIANT
rs587776495 Not Provided: not provided 109,265,131(+) G/A MISSENSE_VARIANT
VAR_062667 A pancreatic ductal adenocarcinoma sample p.Arg193Leu
rs16940029 - p.Ile552Val
rs2075260 - p.Val2141Ile

Additional dbSNP identifiers (rs#s) for ACACB Gene

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

Variant ID Type Subtype PubMed ID
dgv1553n100 CNV gain 25217958
dgv1554n100 CNV gain 25217958
dgv2855n54 CNV gain 21841781
dgv867n106 CNV deletion 24896259
esv1456600 CNV deletion 17803354
esv2158529 CNV deletion 18987734
esv2671931 CNV deletion 23128226
esv2673080 CNV deletion 23128226
esv2746347 CNV deletion 23290073
esv2746348 CNV deletion 23290073
nsv1122762 CNV deletion 24896259
nsv455712 CNV gain 19166990
nsv507674 OTHER sequence alteration 20534489
nsv526593 CNV loss 19592680
nsv528323 CNV gain 19592680

Variation tolerance for ACACB Gene

Residual Variation Intolerance Score: 1.19% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.48; 94.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACACB Gene

Human Gene Mutation Database (HGMD)
ACACB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACACB

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACACB Gene

Disorders for ACACB Gene

MalaCards: The human disease database

(3) MalaCards diseases for ACACB Gene - From: DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ACACB in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ACACB

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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No data available for UniProtKB/Swiss-Prot and Genatlas for ACACB Gene

Publications for ACACB Gene

  1. A single nucleotide polymorphism within the acetyl-coenzyme A carboxylase beta gene is associated with proteinuria in patients with type 2 diabetes. (PMID: 20168990) Maeda S … Nakamura Y (PLoS genetics 2010) 3 23 41 54
  2. Acetyl-coenzyme A carboxylase alpha gene variations may be associated with the direct effects of some antipsychotics on triglyceride levels. (PMID: 19846279) Diaz FJ … de Leon J (Schizophrenia research 2009) 3 23 41 54
  3. ACC2 is expressed at high levels in human white adipose and has an isoform with a novel N-terminus [corrected]. (PMID: 19190759) Castle JC … Johnson JM (PloS one 2009) 3 4 23 54
  4. Characterization of recombinant human acetyl-CoA carboxylase-2 steady-state kinetics. (PMID: 19236960) Kaushik VK … Hubbard BK (Biochimica et biophysica acta 2009) 3 4 23 54
  5. Exploring genetic variations that may be associated with the direct effects of some antipsychotics on lipid levels. (PMID: 18031993) de Leon J … Diaz FJ (Schizophrenia research 2008) 3 23 41 54

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