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. There are two ACC forms, alpha and beta, encoded by two different genes. ACC-alpha is highly enriched in lipogenic tissues. The enzyme is under long term control... See more...

Aliases for ACACA Gene

Aliases for ACACA Gene

  • Acetyl-CoA Carboxylase Alpha 2 3 5
  • Acetyl-Coenzyme A Carboxylase Alpha 2 3 4
  • Acetyl-CoA Carboxylase 1 2 3 4
  • ACC1 2 3 4
  • ACC-Alpha 3 4
  • ACAC 3 4
  • ACCA 3 4
  • EC 6.4.1.2 4
  • ACACAD 3
  • ACACA 5
  • ACC 3

External Ids for ACACA Gene

Previous HGNC Symbols for ACACA Gene

  • ACAC
  • ACC

Previous GeneCards Identifiers for ACACA Gene

  • GC17M034828
  • GC17M037396
  • GC17M035173
  • GC17M035639
  • GC17M035637
  • GC17M032516
  • GC17M035441
  • GC17M031378

Summaries for ACACA Gene

Entrez Gene Summary for ACACA 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. There are two ACC forms, alpha and beta, encoded by two different genes. ACC-alpha is highly enriched in lipogenic tissues. The enzyme is under long term control at the transcriptional and translational levels and under short term regulation by the phosphorylation/dephosphorylation of targeted serine residues and by allosteric transformation by citrate or palmitoyl-CoA. Multiple alternatively spliced transcript variants divergent in the 5' sequence and encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for ACACA Gene

ACACA (Acetyl-CoA Carboxylase Alpha) is a Protein Coding gene. Diseases associated with ACACA include Acetyl-Coa Carboxylase Deficiency and Multiple Carboxylase Deficiency. Among its related pathways are Fatty acid biosynthesis (KEGG) and Sterol Regulatory Element-Binding Proteins (SREBP) signalling. Gene Ontology (GO) annotations related to this gene include ligase activity and D-alanine-D-alanine ligase activity. An important paralog of this gene is ACACB.

UniProtKB/Swiss-Prot Summary for ACACA Gene

  • Cytosolic enzyme that catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the first and rate-limiting step of de novo fatty acid biosynthesis (PubMed:20952656, PubMed:20457939, PubMed:29899443). This is 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:20952656, PubMed:20457939, PubMed:29899443).

Tocris Summary for ACACA Gene

Gene Wiki entry for ACACA Gene

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

Genomics for ACACA Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ACACA Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACACA on the GeneHancer Hub at the UCSC Golden Path

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

Top Transcription factor binding sites by QIAGEN in the ACACA gene promoter:
  • AP-1
  • CREB
  • deltaCREB

Genomic Locations for ACACA Gene

Genomic Locations for ACACA Gene
chr17:37,084,992-37,406,836
(GRCh38/hg38)
Size:
321,845 bases
Orientation:
Minus strand
chr17:35,441,923-35,766,909
(GRCh37/hg19)
Size:
324,987 bases
Orientation:
Minus strand

Genomic View for ACACA Gene

Genes around ACACA on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ACACA Gene

Proteins for ACACA Gene

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

    Protein Symbol:
    Q13085-ACACA_HUMAN
    Recommended name:
    Acetyl-CoA carboxylase 1
    Protein Accession:
    Q13085
    Secondary Accessions:
    • B2RP68
    • B2ZZ90
    • Q6KEV6
    • Q6XDA8
    • Q7Z2G8
    • Q7Z561
    • Q7Z563
    • Q7Z564
    • Q86WB2
    • Q86WB3

    Protein attributes for ACACA Gene

    Size:
    2346 amino acids
    Molecular mass:
    265554 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Cofactor:
    Name=biotin; Xref=ChEBI:CHEBI:57586;
    Quaternary structure:
    • Monomer, homodimer, and homotetramer (PubMed:20952656, PubMed:29899443). Can form filamentous polymers (PubMed:20457939, PubMed:20952656, PubMed:29899443). Interacts in its inactive phosphorylated form with the BRCT domains of BRCA1 which prevents ACACA dephosphorylation and inhibits lipid synthesis (PubMed:12360400, PubMed:16326698, PubMed:18452305, PubMed:29899443). Interacts with MID1IP1; interaction with MID1IP1 promotes oligomerization and increases its activity (PubMed:20457939).

    Three dimensional structures from OCA and Proteopedia for ACACA Gene

    Alternative splice isoforms for ACACA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACACA Gene

Post-translational modifications for ACACA Gene

  • Phosphorylation on Ser-1263 is required for interaction with BRCA1.
  • Phosphorylation at Ser-80 by AMPK inactivates enzyme activity.
  • The biotin cofactor is covalently attached to the central biotinyl-binding domain and is required for the catalytic activity.
  • Ubiquitination at Lys288 and Lys1759
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for ACACA Gene

Domains & Families for ACACA Gene

Gene Families for ACACA Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ACACA Gene

GenScript: Design optimal peptide antigens:
  • ACC-alpha (ACACA_HUMAN)
  • HCG30204, isoform CRA_b (B2ZZ90_HUMAN)
  • ACACA protein (Q7Z5W8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13085

UniProtKB/Swiss-Prot:

ACACA_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 ACACA: view

Function for ACACA Gene

Molecular function for ACACA Gene

UniProtKB/Swiss-Prot Function:
Cytosolic enzyme that catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the first and rate-limiting step of de novo fatty acid biosynthesis (PubMed:20952656, PubMed:20457939, PubMed:29899443). This is 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:20952656, PubMed:20457939, PubMed:29899443).
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:20457939, ECO:0000269|PubMed:20952656, ECO:0000269|PubMed:29899443};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by phosphorylation (PubMed:16326698, PubMed:29899443). Citrate promotes oligomerization of the protein into filaments that correspond to the most active form of the carboxylase (PubMed:29899443). Inhibited by palmitoyl-CoA (PubMed:29899443).
GENATLAS Biochemistry:
acetyl-CoA carboxylase alpha,265kDa,biotine dependent,expressed in lipogenic tissues,cytosolic,catalyzing the synthesis of malonyl-CoA,an intermediate substrate playing a pivotal role in the regulation of fatty acid metabolism

Enzyme Numbers (IUBMB) for ACACA Gene

Phenotypes From GWAS Catalog for ACACA Gene

Gene Ontology (GO) - Molecular Function for ACACA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003824 catalytic activity IEA --
GO:0003989 acetyl-CoA carboxylase activity TAS --
GO:0005515 protein binding IPI 16326698
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with ACACA: view
genes like me logo Genes that share phenotypes with ACACA: view

Human Phenotype Ontology for ACACA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ACACA Gene

MGI Knock Outs for ACACA:

Animal Model Products

  • Taconic Biosciences Mouse Models for ACACA

CRISPR Products

miRNA for ACACA Gene

miRTarBase miRNAs that target ACACA

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACACA

No data available for Transcription Factor Targets and HOMER Transcription for ACACA Gene

Localization for ACACA Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACACA Gene

Cytoplasm, cytosol.

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 ACACA gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
mitochondrion 4
plasma membrane 2
extracellular 2
peroxisome 2
endoplasmic reticulum 2
lysosome 2
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Actin filaments (1)
  • Nucleoli fibrillar center (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ACACA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA,TAS --
GO:0015629 actin cytoskeleton IDA --
genes like me logo Genes that share ontologies with ACACA: view

Pathways & Interactions for ACACA Gene

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

Pathways by source for ACACA Gene

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

UniProtKB/Swiss-Prot Q13085-ACACA_HUMAN

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

SIGNOR curated interactions for ACACA Gene

Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for ACACA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001894 tissue homeostasis IEA --
GO:0006084 acetyl-CoA metabolic process ISS --
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006633 fatty acid biosynthetic process ISS --
genes like me logo Genes that share ontologies with ACACA: view

Drugs & Compounds for ACACA Gene

(26) Drugs for ACACA Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Biotin Approved, Investigational Nutra Target, cofactor 62
Phosphoric acid Approved Pharma 0
Manganese Approved Nutra 56
Malonyl-CoA Experimental Pharma 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

(19) Additional Compounds for ACACA Gene - From: HMDB and Novoseek

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
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 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 ACACA: view

Transcripts for ACACA Gene

mRNA/cDNA for ACACA Gene

7 REFSEQ mRNAs :
31 NCBI additional mRNA sequence :
23 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACACA

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

No ASD Table

Relevant External Links for ACACA Gene

GeneLoc Exon Structure for
ACACA

Expression for ACACA Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ACACA Gene

This gene is overexpressed in Breast (8.5) and Lung (6.3).

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



Protein tissue co-expression partners for ACACA Gene

- Elite partner

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

SOURCE GeneReport for Unigene cluster for ACACA Gene:

Hs.160556

mRNA Expression by UniProt/SwissProt for ACACA Gene:

Q13085-ACACA_HUMAN
Tissue specificity: Expressed in brain, placenta, skeletal muscle, renal, pancreatic and adipose tissues; expressed at low level in pulmonary tissue; not detected in the liver.

Evidence on tissue expression from TISSUES for ACACA Gene

  • Nervous system(4.9)
  • Liver(4.8)
  • Adrenal gland(3.1)
  • Intestine(2.9)
  • Blood(2.9)
  • Muscle(2.9)
  • Skin(2.7)
  • Heart(2.7)
  • Kidney(2.6)
  • Pancreas(2.5)
  • Thyroid gland(2.5)
  • Eye(2.5)
  • Lung(2.3)
  • Stomach(2.2)
  • Spleen(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ACACA Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
genes like me logo Genes that share expression patterns with ACACA: view

No data available for mRNA differential expression in normal tissues for ACACA Gene

Orthologs for ACACA Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ACACA Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ACACA 30
  • 99.62 (n)
Dog
(Canis familiaris)
Mammalia ACACA 30
  • 93.57 (n)
Mouse
(Mus musculus)
Mammalia Acaca 30 17
  • 91.23 (n)
Cow
(Bos Taurus)
Mammalia ACACA 30
  • 91.18 (n)
Rat
(Rattus norvegicus)
Mammalia Acaca 30
  • 90.46 (n)
Chicken
(Gallus gallus)
Aves ACACA 30
  • 82.01 (n)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia acaca 30
  • 78.77 (n)
Zebrafish
(Danio rerio)
Actinopterygii acaca 30
  • 75.56 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta ACC 30
  • 62.51 (n)
CG11198 32
  • 61 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005175 30
  • 60.56 (n)
Worm
(Caenorhabditis elegans)
Secernentea W09B6.1 32
  • 43 (a)
T28F3.5 32
  • 41 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ACC1 30
  • 53.16 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AAR071W 30
  • 53.14 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F06072g 30
  • 53.11 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons ACC2 30
  • 50.54 (n)
Barley
(Hordeum vulgare)
Liliopsida Hv.8708 30
Corn
(Zea mays)
Liliopsida Zm.264 30
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cut6 30
  • 53.16 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU08535 30
  • 53 (n)
Species where no ortholog for ACACA was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ACACA Gene

ENSEMBL:
Gene Tree for ACACA (if available)
TreeFam:
Gene Tree for ACACA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACACA: view image

Paralogs for ACACA Gene

Paralogs for ACACA Gene

(2) SIMAP similar genes for ACACA Gene using alignment to 13 proteins:

  • ACACA_HUMAN
  • A8MYL5_HUMAN
  • B2ZZ90_HUMAN
  • D3YTK0_HUMAN
  • K4DID9_HUMAN
  • K7EII5_HUMAN
  • K7EJ22_HUMAN
  • K7EK64_HUMAN
  • K7EMF7_HUMAN
  • K7EPF1_HUMAN
  • L8EAV0_HUMAN
  • Q59FY4_HUMAN
  • Q7Z5W8_HUMAN
genes like me logo Genes that share paralogs with ACACA: view

Variants for ACACA Gene

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

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
808254 Uncertain Significance: not provided 37,200,488(-) G/A INTRON_VARIANT
811450 Uncertain Significance: Acetyl-CoA: carboxylase deficiency 37,188,411(-) C/T MISSENSE_VARIANT
rs111441513 Likely Benign: not provided 37,283,330(-) G/T SYNONYMOUS_VARIANT
rs1357271377 A colorectal cancer sample p.Arg1687Gln
rs141608509 Likely Benign: not provided 37,089,042(-) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ACACA Gene

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

Variant ID Type Subtype PubMed ID
dgv3157n100 CNV gain 25217958
esv2658235 CNV deletion 23128226
esv2661121 CNV deletion 23128226
esv2667392 CNV deletion 23128226
esv2715887 CNV deletion 23290073
esv2758687 CNV gain 17122850
esv32692 CNV loss 17666407
esv3554382 CNV deletion 23714750
esv3640480 CNV gain 21293372
esv3640484 CNV gain 21293372
esv3640486 CNV loss 21293372
esv3640487 CNV gain 21293372
esv3640488 CNV loss 21293372
esv3640489 CNV loss 21293372
esv3640493 CNV gain 21293372
esv3640494 CNV gain 21293372
esv999747 CNV insertion 20482838
nsv1061019 CNV gain 25217958
nsv1061860 CNV gain 25217958
nsv1134644 CNV deletion 24896259
nsv1136234 CNV deletion 24896259
nsv510707 CNV deletion 20534489
nsv511589 CNV loss 21212237
nsv527922 CNV gain 19592680
nsv574926 CNV loss 21841781
nsv574927 CNV loss 21841781
nsv574928 CNV loss 21841781
nsv960476 CNV duplication 23825009

Variation tolerance for ACACA Gene

Residual Variation Intolerance Score: 0.542% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.69; 46.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACACA Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ACACA Gene

MalaCards: The human disease database

(12) MalaCards diseases for ACACA Gene - From: OMIM, GTR, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
acetyl-coa carboxylase deficiency
  • acacad
multiple carboxylase deficiency
  • mcd
biotin deficiency
  • b7 deficiency
non-alcoholic steatohepatitis
  • non-alcoholic fatty liver disease
lipid metabolism disorder
  • dyslipidemia
- elite association - COSMIC cancer census association via MalaCards
Search ACACA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ACACA_HUMAN
  • Acetyl-CoA carboxylase 1 deficiency (ACACAD) [MIM:613933]: An inborn error of de novo fatty acid synthesis associated with severe brain damage, persistent myopathy and poor growth. {ECO:0000269 PubMed:6114432}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ACACA

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

No data available for Genatlas for ACACA Gene

Publications for ACACA Gene

  1. Acetyl-CoA carboxylase alpha gene and breast cancer susceptibility. (PMID: 15333468) Sinilnikova OM … Lenoir GM (Carcinogenesis 2004) 3 4 23 41
  2. Induced polymerization of mammalian acetyl-CoA carboxylase by MIG12 provides a tertiary level of regulation of fatty acid synthesis. (PMID: 20457939) Kim CW … Horton JD (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 4 23
  3. 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
  4. Structural evidence for direct interactions between the BRCT domains of human BRCA1 and a phospho-peptide from human ACC1. (PMID: 18452305) Shen Y … Tong L (Biochemistry 2008) 3 4 23
  5. Haplotype-based analysis of common variation in the acetyl-coA carboxylase alpha gene and breast cancer risk: a case-control study nested within the European Prospective Investigation into Cancer and Nutrition. (PMID: 17372234) Sinilnikova OM … Kaaks R (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2007) 3 23 41

Products for ACACA Gene

Sources for ACACA Gene