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Aliases for ACACB Gene

Aliases for ACACB Gene

  • Acetyl-CoA Carboxylase Beta 2 3 5
  • Acetyl-Coenzyme A Carboxylase Beta 2 3
  • ACC-Beta 3 4
  • ACC2 3 4
  • ACCB 3 4
  • Acetyl-CoA Carboxylase 2 2
  • 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 acetyl-coa carboxylase-beta deficiency and biotin deficiency. Among its related pathways are Metabolism and Infectious disease. GO annotations related to this gene include ligase activity and biotin binding. An important paralog of this gene is ACACA.

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).

Tocris Summary for ACACB Gene

Gene Wiki entry for ACACB Gene

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

Genomics for ACACB Gene

Regulatory Elements for ACACB Gene

Promoters for ACACB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ACACB on UCSC Golden Path with GeneCards custom track

Genomic Location for ACACB Gene

Chromosome:
12
Start:
109,111,184 bp from pter
End:
109,268,226 bp from pter
Size:
157,043 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=Mn(2+); Xref=ChEBI:CHEBI:29035;
    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

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ACACB (ACC2)

No data available for DME Specific Peptides for ACACB Gene

Domains & Families for ACACB Gene

Gene Families for ACACB Gene

Suggested Antigen Peptide Sequences for ACACB Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O00763

UniProtKB/Swiss-Prot:

ACACB_HUMAN :
  • Contains 1 ATP-grasp domain.
Domain:
  • Contains 1 ATP-grasp domain.
  • Contains 1 biotin carboxylation domain.
  • Contains 1 biotinyl-binding domain.
  • Contains 1 carboxyltransferase domain.
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

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

Animal Models for ACACB Gene

MGI Knock Outs for ACACB:

Animal Model Products

  • Taconic Biosciences Mouse Models for ACACB

No data available for Gene Ontology (GO) - Molecular Function , 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. 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 5
mitochondrion 5
nucleus 5
plasma membrane 3
chloroplast 2
endoplasmic reticulum 2
peroxisome 2
extracellular 1

No data available for Gene Ontology (GO) - Cellular Components for ACACB Gene

Pathways & Interactions for ACACB Gene

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:0006766 vitamin metabolic process TAS --
GO:0006767 water-soluble vitamin metabolic process TAS --
GO:0006853 carnitine shuttle TAS --
genes like me logo Genes that share ontologies with ACACB: view

No data available for SIGNOR curated interactions for ACACB Gene

Drugs & Compounds for ACACB Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Biotin Approved Nutra Target 36
Adenine Approved Nutra Target 0
Adenosine triphosphate Approved Nutra 0
(2S)-2-(4-{[3-CHLORO-5-(TRIFLUOROMETHYL)PYRIDIN-2-YL]OXY}PHENOXY)PROPANOIC ACID Experimental Pharma Target 0
2-[4-(2,4-Dichlorophenoxy)Phenoxy]Propanoic Acid Experimental Pharma Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • Ac-CoA
  • Ac-Coenzyme A
  • Ac-S-CoA
  • Ac-S-Coenzyme A
  • Acetyl coenzyme-A
72-89-9
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Carbonic acid
  • Acid of air
  • Aerial acid
  • Bisodium carbonate
  • Calcined
  • Carbonic acid sodium salt
463-79-6
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
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 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, 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 expression patterns with ACACB: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners 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 35
  • 99.38 (n)
  • 99.51 (a)
ACACB 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ACACB 36
  • 88 (a)
OneToOne
ACACB 35
  • 86.77 (n)
  • 87.58 (a)
dog
(Canis familiaris)
Mammalia ACACB 35
  • 87.89 (n)
  • 90.42 (a)
ACACB 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acacb 36
  • 89 (a)
OneToOne
Acacb 16
Acacb 35
  • 85.01 (n)
  • 88.81 (a)
oppossum
(Monodelphis domestica)
Mammalia ACACB 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACACB 36
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acacb 35
  • 83.33 (n)
  • 85.28 (a)
chicken
(Gallus gallus)
Aves ACACB 36
  • 78 (a)
OneToOne
ACACB 35
  • 75.93 (n)
  • 79.94 (a)
lizard
(Anolis carolinensis)
Reptilia ACACB 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acacb 35
  • 73.01 (n)
  • 80.47 (a)
zebrafish
(Danio rerio)
Actinopterygii acacb 36
  • 78 (a)
OneToOne
acacb 35
  • 70.85 (n)
  • 76.2 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11198 37
  • 59 (a)
ACC 36
  • 55 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea pod-2 36
  • 33 (a)
ManyToMany
T28F3.5 36
  • 36 (a)
ManyToMany
T28F3.5 37
  • 39 (a)
W09B6.1 37
  • 44 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ACC1 36
  • 46 (a)
OneToMany
ACC1 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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

Paralogs for ACACB Gene

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

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

Variants for ACACB Gene

Sequence variations from dbSNP and Humsavar for ACACB Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs16940029 - 109,179,923(+) GTGCC(A/G)TCCGC nc-transcript-variant, reference, missense
rs2300455 - 109,185,711(-) TCTGG(C/T)GGCAA nc-transcript-variant, reference, missense
rs2075260 - 109,259,033(+) AGGCC(A/G)TCAAG nc-transcript-variant, reference, missense
VAR_062667 A pancreatic ductal adenocarcinoma sample
rs34259 -- 109,113,428(+) AGGGA(C/G)ATCTC 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

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)

Relevant External Links for ACACB Gene

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

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

Disorders for ACACB Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
acetyl-coa carboxylase-beta deficiency
biotin deficiency
  • b7 deficiency
obesity
  • obesity, association with
diabetes mellitus, noninsulin-dependent
  • diabetes mellitus, noninsulin-dependent, 2
- elite association - COSMIC cancer census association via MalaCards
Search ACACB in MalaCards View complete list of genes associated with diseases

Relevant External Links for ACACB

Genetic Association Database (GAD)
ACACB
Human Genome Epidemiology (HuGE) Navigator
ACACB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACACB
genes like me logo Genes that share disorders with ACACB: view

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

Publications for ACACB Gene

  1. Identification of a second human acetyl-CoA carboxylase gene. (PMID: 8670171) Widmer J. … Witters L.A. (Biochem. J. 1996) 2 3 4 67
  2. Hormonal regulation of acetyl-CoA carboxylase isoenzyme gene transcription. (PMID: 20139635) Zhao L.F. … Terada Y. (Endocr. J. 2010) 3 23
  3. 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 Genet. 2010) 3 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 23
  5. Acetyl-coenzyme A carboxylase alpha gene variations may be associated with the direct effects of some antipsychotics on triglyceride levels. (PMID: 19846279) Diaz F.J. … de Leon J. (Schizophr. Res. 2009) 3 23

Products for ACACB Gene

Sources for ACACB Gene

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