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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
External Ids for ACACA Gene
- HGNC: 84
- Entrez Gene: 31
- Ensembl: ENSG00000278540
- OMIM: 200350
- UniProtKB: Q13085
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
-
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).
Additional gene information for ACACA Gene
- HGNC(84)
- Entrez Gene(31)
- Ensembl(ENSG00000278540)
- OMIM(200350)
- UniProtKB(Q13085)
- Open Targets Platform(ENSG00000278540)
- Monarch Initiative
- Search for ACACA at DataMed
- Search for ACACA at HumanCyc
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:
-
- 17q12 by HGNC
- 17q12 by Entrez Gene
- 17q12 by Ensembl
ACACA Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression 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
- NX_Q13085 (NX_Q13085-1)
- Modification sites at PhosphoSitePlus
Other Protein References for ACACA Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ ACC1 Antibody and Immunotag™ Phospho-ACC1 (Ser80) Antibody
-
Custom Antibody ServicesOriGene Antibodies for ACACA
- Novus Biologicals Antibodies for ACACA
-
Abcam antibodies for ACACA
- Invitrogen Antibodies for ACACA (AFLGC-Acaca)
-
Santa Cruz Biotechnology (SCBT) Antibodies for ACACA
Protein Products
-
OriGene Purified Proteins for ACACA
- Search Origene for MassSpec and Protein Over-expression Lysates for ACACA
- Origene Custom Protein Services for ACACA
- Novus Biologicals proteins for ACACA
-
Signalway Proteins for ACACA
-
Abcam proteins for ACACA
Assay Products
- G Biosciences Immunotag™ Acetyl-CoA carboxylase 1 ELISA Kit
- Novus Biologicals ELISA Kits for ACACA
- antibodies-online: Show 54 available Acetyl-CoA Carboxylase Elisa Kits ranked by validation data
- Compare Top Acetyl-CoA Carboxylase Elisa Kits
-
Quality Products:
- ABIN810228
- ABIN417610
- ABIN1568105
- ABIN5523599
- ABIN4993279
- ABIN512849
- ABIN1380900
- ABIN5651340
- ABIN2540758
- ABIN4966737
- ABIN424141
- ABIN1568106
- ABIN5593930
- ABIN772757
- ABIN5651341
- ABIN2540759
- ABIN4885957
- ABIN5526733
- ABIN4966736
- ABIN810230
- ABIN431564
- ABIN5519931
- ABIN5519274
- ABIN5593931
- ABIN771436
- ABIN5651342
- ABIN2540760
- ABIN4885960
-
Boster Bio ELISA Kits for ACACA
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
Protein Domains for ACACA Gene
- InterPro:
- Blocks:
-
- Biotin-requiring enzyme, attachment site
- Acetyl-CoA carboxylase, central region
- ProtoNet:
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
Q13085UniProtKB/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).
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
| 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 | -- |
Phenotypes for ACACA Gene
- MGI mutant phenotypes for ACACA:
- inferred from 5 alleles
- GenomeRNAi human phenotypes for ACACA:
-
- no effect
- Decreased viability
- shRNA abundance <= 50%
- shRNA abundance <= 25%
- Reduced mammosphere formation
- Increased shRNA abundance
- Decreased influenza A/WSN/33 replication
- Increased shRNA abundance (Z-score > 2)
- Decreased HPV16-GFP infection
- Decreased shRNA abundance (Z-score < -2)
- Decreased viability in colon lineage
Animal Model Products
-
Taconic Biosciences Mouse Models for ACACA
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ACACA - Select products 50% OFF >
- * ACACA CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ACACA
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ACACA
-
Santa Cruz Biotechnology (SCBT) CRISPR for ACACA
miRNA for ACACA Gene
- miRTarBase miRNAs that target ACACA
-
- mmu-miR-425-5p (MIRT008463)
- mmu-miR-7b-5p (MIRT009137)
- hsa-miR-335-5p (MIRT017082)
- hsa-miR-24-3p (MIRT030449)
- hsa-let-7b-5p (MIRT032204)
- hsa-miR-193b-3p (MIRT041233)
- hsa-miR-339-5p (MIRT042761)
- hsa-miR-324-3p (MIRT042815)
- hsa-miR-222-3p (MIRT046646)
- hsa-miR-92a-3p (MIRT049478)
- hsa-miR-142-3p (MIRT441299)
- hsa-miR-218-5p (MIRT441300)
- hsa-miR-4646-3p (MIRT693719)
- hsa-miR-7152-5p (MIRT693720)
- hsa-miR-3074-5p (MIRT693721)
- hsa-miR-491-3p (MIRT693722)
- hsa-miR-4433b-5p (MIRT693723)
- hsa-miR-1269b (MIRT693724)
- hsa-miR-1269a (MIRT693725)
- hsa-miR-580-3p (MIRT693726)
- hsa-miR-6783-3p (MIRT693727)
- hsa-miR-1343-3p (MIRT693728)
- hsa-miR-4515 (MIRT693729)
- hsa-miR-1288-3p (MIRT693730)
- hsa-miR-4740-5p (MIRT693731)
- hsa-miR-6857-3p (MIRT693732)
- hsa-miR-219a-2-3p (MIRT693733)
- hsa-miR-422a (MIRT693734)
- hsa-miR-378i (MIRT693735)
- hsa-miR-378h (MIRT693736)
- hsa-miR-378f (MIRT693737)
- hsa-miR-378e (MIRT693738)
- hsa-miR-378d (MIRT693739)
- hsa-miR-378c (MIRT693740)
- hsa-miR-378b (MIRT693741)
- hsa-miR-378a-3p (MIRT693742)
- hsa-miR-4251 (MIRT693743)
- hsa-miR-4254 (MIRT693744)
- hsa-miR-3690 (MIRT693745)
- hsa-miR-361-3p (MIRT693746)
- hsa-miR-1250-3p (MIRT693747)
- hsa-miR-1255b-2-3p (MIRT693748)
- hsa-miR-1207-5p (MIRT736002)
- hsa-miR-1282 (MIRT737003)
- hsa-miR-182-3p (MIRT738051)
- hsa-miR-211-3p (MIRT738922)
- hsa-miR-3125 (MIRT739994)
- hsa-miR-3916 (MIRT742891)
- hsa-miR-4261 (MIRT743472)
- hsa-miR-4436b-3p (MIRT744449)
- hsa-miR-4496 (MIRT745336)
- hsa-miR-4632-5p (MIRT746259)
- hsa-miR-4636 (MIRT746310)
- hsa-miR-4763-3p (MIRT748511)
- hsa-miR-4777-5p (MIRT748713)
- hsa-miR-494-3p (MIRT749254)
- hsa-miR-5002-5p (MIRT749387)
- hsa-miR-5010-3p (MIRT749482)
- hsa-miR-5095 (MIRT749695)
- hsa-miR-518d-5p (MIRT749906)
- hsa-miR-518e-5p (MIRT749911)
- hsa-miR-518f-5p (MIRT749915)
- hsa-miR-519a-5p (MIRT750119)
- hsa-miR-519b-5p (MIRT750137)
- hsa-miR-519c-5p (MIRT750155)
- hsa-miR-520c-5p (MIRT750218)
- hsa-miR-520g-5p (MIRT750257)
- hsa-miR-522-5p (MIRT750271)
- hsa-miR-523-5p (MIRT750277)
- hsa-miR-526a (MIRT750311)
- hsa-miR-541-3p (MIRT750354)
- hsa-miR-5707 (MIRT751392)
- hsa-miR-592 (MIRT751584)
- hsa-miR-597-5p (MIRT751615)
- hsa-miR-654-5p (MIRT753425)
- hsa-miR-6721-5p (MIRT753773)
- hsa-miR-6735-5p (MIRT754162)
- hsa-miR-6758-5p (MIRT754860)
- hsa-miR-6769a-5p (MIRT755173)
- hsa-miR-6769b-5p (MIRT755218)
- hsa-miR-6823-5p (MIRT756917)
- hsa-miR-6856-5p (MIRT757706)
- hsa-miR-6859-5p (MIRT757811)
- hsa-miR-6879-5p (MIRT758249)
- hsa-miR-7151-3p (MIRT759178)
- hsa-miR-7843-5p (MIRT759751)
- hsa-miR-7845-5p (MIRT759790)
- hsa-miR-92a-2-5p (MIRT760533)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ACACA
- Browse OriGene Inhibitory RNA Products For ACACA
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACACA
Clone Products
- Applied Biological Materials (abm): Clones for ACACA - Select products 50% OFF >
- * ACACA as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for ACACA
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ACACA
Cell Line Products
-
Horizon Cell Lines 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.
| 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 |
- Cytosol (3)
- Actin filaments (1)
- Nucleoli fibrillar center (1)
| 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 | -- |
Pathways & Interactions for ACACA Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism of water-soluble vitamins and cofactors | ||
| 2 | Fatty Acyl-CoA Biosynthesis | ||
| 3 | Metabolism |
.40
|
|
| 4 | AMP-activated Protein Kinase (AMPK) Signaling | ||
| 5 | Regulation of cholesterol biosynthesis by SREBP (SREBF) | ||
Pathways by source for ACACA Gene
9 BioSystems pathways for ACACA Gene
17 Reactome pathways for ACACA Gene
1 PharmGKB pathway for ACACA Gene
8 KEGG pathways 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.
Interacting Proteins for ACACA Gene
Selected Interacting proteins:
Q13085-ACACA_HUMAN
ENSP00000483300
for ACACA Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for ACACA
SIGNOR curated interactions 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 | -- |
Drugs & Compounds for ACACA Gene
| 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 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| acetyl-coa |
|
72-89-9 | ||||
| ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
||
| Carbonic acid |
|
71-52-3, 463-79-6 |
|
|||
| Phosphate |
|
14066-19-4, 14265-44-2 |
|
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 :
-
- ENST00000616317 10013 nts (view in UCSC)
- ENST00000612895 9624 nts (view in UCSC)
- ENST00000614428 9554 nts (view in UCSC)
- ENST00000619546 5315 nts (view in UCSC)
- ENST00000617649 7912 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ACACA - Select products 50% OFF >
- * ACACA CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ACACA
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ACACA
-
Santa Cruz Biotechnology (SCBT) CRISPR for ACACA
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ACACA
- Browse OriGene Inhibitory RNA Products For ACACA
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACACA
Clone Products
- Applied Biological Materials (abm): Clones for ACACA - Select products 50% OFF >
- * ACACA as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for ACACA
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ACACA
Relevant External Links for ACACA Gene
- GeneLoc Exon Structure for
- ACACA
Expression for ACACA Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACACA
SOURCE GeneReport for Unigene cluster for ACACA Gene:
Hs.160556mRNA 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
Primer Products
-
OriGene qPCR primer pairs for ACACA
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ACACA 30 |
|
||
| Dog (Canis familiaris) |
Mammalia | ACACA 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Acaca 30 17 |
|
||
| Cow (Bos Taurus) |
Mammalia | ACACA 30 |
|
||
| Rat (Rattus norvegicus) |
Mammalia | Acaca 30 |
|
||
| Chicken (Gallus gallus) |
Aves | ACACA 30 |
|
||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | acaca 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | acaca 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | ACC 30 |
|
||
| CG11198 32 |
|
|
|||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP005175 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | W09B6.1 32 |
|
|
|
| T28F3.5 32 |
|
|
|||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ACC1 30 |
|
||
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AAR071W 30 |
|
||
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F06072g 30 |
|
||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | ACC2 30 |
|
||
| Barley (Hordeum vulgare) |
Liliopsida | Hv.8708 30 |
|
||
| Corn (Zea mays) |
Liliopsida | Zm.264 30 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | cut6 30 |
|
||
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU08535 30 |
|
- 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
(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
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 |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACACA Gene
Disorders for ACACA Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| acetyl-coa carboxylase deficiency |
|
|
| multiple carboxylase deficiency |
|
|
| biotin deficiency |
|
|
| non-alcoholic steatohepatitis |
|
|
| lipid metabolism disorder |
|
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
No data available for Genatlas for ACACA Gene
Publications for ACACA Gene
- Acetyl-CoA carboxylase alpha gene and breast cancer susceptibility. (PMID: 15333468) Sinilnikova OM … Lenoir GM (Carcinogenesis 2004) 3 4 23 41
- 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
- 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
- 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
- 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
ExternalLinks
Products for ACACA Gene
- Custom Antibody ServicesOriGene Antibodies for ACACA
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for ACACA
- Search Origene for MassSpec and Protein Over-expression Lysates for ACACA
- Origene Custom Protein Services for ACACA
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ACACA
- Browse OriGene Inhibitory RNA Products For ACACA
- OriGene qPCR primer pairs for ACACA
- OriGene CRISPR knockouts for ACACA
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For ACACA
- Sino Biological Human cDNA Clone for ACACA
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for ACACA
- Novus Biologicals proteins for ACACA
- Novus Biologicals ELISA Kits for ACACA
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for ACACA
- Abcam proteins for ACACA
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
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- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Taconic Biosciences Mouse Models for ACACA
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for ACACA (AFLGC-Acaca)
- VectorBuilder Custom and pre-made DNA vectors for ACACA (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for ACACA (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for ACACA (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for ACACA CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for ACACA
- antibodies-online: Show 56 available Acetyl-CoA Carboxylase Antibodies ranked by validation data
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- antibodies-online: Show 54 available Acetyl-CoA Carboxylase Elisa Kits ranked by validation data
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- ABIN1380900
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- ABIN2540758
- ABIN4966737
- ABIN424141
- ABIN1568106
- ABIN5593930
- ABIN772757
- ABIN5651341
- ABIN2540759
- ABIN4885957
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- ABIN810230
- ABIN431564
- ABIN5519931
- ABIN5519274
- ABIN5593931
- ABIN771436
- ABIN5651342
- ABIN2540760
- ABIN4885960
- antibodies-online: Show 5 available Acetyl-CoA Carboxylase Proteins ranked by validation data
- Compare Top Acetyl-CoA Carboxylase Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for ACACA
- Search Santa Cruz Biotechnology (SCBT) for ACACA siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for ACACA
- Horizon Cell Lines for ACACA
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ACACA
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ACACA
- Search GeneCopoeia for miRNA 3'UTR Target clone products for ACACA
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACACA
Sources for ACACA Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB