ACACA Gene
protein-coding GIFtS: 68
GCID: GC17M035441
|
|
acetyl-CoA carboxylase alpha(Previous name: acetyl-Coenzyme A carboxylase alpha )
(Previous symbols: ACAC, ACC)
| |
Aliases
for ACACA gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Acetyl-CoA Carboxylase Alpha1 2 | | ACC-Alpha1 | | ACAC1 2 3 5 | | ACCA2 3 | | ACC11 2 3 5 | | ACACAD2 | | ACC1 2 | | Acetyl-CoA Carboxylase 12 | | Acetyl-Coenzyme A Carboxylase Alpha1 2 | | EC 6.4.1.23 |
Export aliases for ACACA gene to outside databasesPrevious GC identifers: GC17M034828 GC17M037396 GC17M035173 GC17M035639 GC17M035637 GC17M032516 GC17M031378 |
Summaries
for ACACA gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for ACACA:
Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme whichcatalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. There aretwo ACC forms, alpha and beta, encoded by two different genes. ACC-alpha is highly enriched in lipogenic tissues. Theenzyme is under long term control at the transcriptional and translational levels and under short term regulation bythe phosphorylation/dephosphorylation of targeted serine residues and by allosteric transformation by citrate orpalmitoyl-CoA. Multiple alternatively spliced transcript variants divergent in the 5' sequence and encoding distinctisoforms have been found for this gene. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: ACACA_HUMAN, Q13085Function: Catalyzes the rate-limiting reaction in the biogenesis of long-chain fatty acids. Carries out threefunctions: biotin carboxyl carrier protein, biotin carboxylase and carboxyltransferase
Gene Wiki entry for ACACA
|
Genomic Views
for ACACA gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000017.10 NC_018928.1 NT_010783.15
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the ACACA gene promoter:
CREB AP-1 deltaCREB
Other transcription factors
Search SABiosciences Chromatin IP Primers for ACACA
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACACA |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 17q21 Ensembl cytogenetic band: 17q12 HGNC cytogenetic band: 17q21ACACA Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 17 GeneLoc Exon Structure GeneLoc location for GC17M035441: view genomic region
(about GC identifiers)
Start:
|
35,441,923 bp from pter |
End:
|
35,766,909 bp from pter |
Size:
|
324,987 bases |
Orientation:
|
minus strand |
|
Proteins
for ACACA gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: ACACA_HUMAN, Q13085 (See
protein sequence)Recommended Name: Acetyl-CoA carboxylase 1 Size: 2346 amino acids; 265554 Da
Cofactor: Biotin
Cofactor: Binds 2 manganese ions per subunit
Subunit: Monomer, homodimer, and homotetramer. Can form filamentous polymers. Interacts in its inactive phosphorylatedform with the BRCT domains of BRCA1 which prevents ACACA dephosphorylation and inhibits lipid synthesis. Interactswith MID1IP1; interaction with MID1IP1 promotes oligomerization and increases its activity
Subcellular location: Cytoplasm
Sequence caution: Sequence=AAP94120.1; Type=Erroneous initiation;
3 PDB 3D structures from  and Proteopedia  for ACACA:2YL2 (3D)
3COJ (3D)
4ASI (3D)
Secondary accessions: B2RP68 Q6KEV6 Q6XDA8 Q7Z2G8 Q7Z561 Q7Z563 Q7Z564 Q86WB2 Q86WB3Alternative promoter usage: 4 isoforms: Q13085-1 Q13085-2 Q13085-3 Q13085-4 Explore the universe of human proteins at neXtProt for ACACA: NX_Q13085
Post-translational modifications:
Phosphorylation on Ser-1263 is required for interaction with BRCA11
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q13085
ACACA Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (5 alternative transcripts):
NP_942131.1 NP_942133.1 NP_942134.1 NP_942135.1 NP_942136.1
ENSEMBL proteins: ENSP00000344789 ENSP00000353898 ENSP00000377928 ENSP00000467820 ENSP00000335323 ENSP00000467354 ENSP00000466486 ENSP00000465478 ENSP00000390132 ENSP00000464763 ENSP00000377925 ENSP00000397282 ENSP00000391737 ENSP00000464991 ENSP00000391001 ENSP00000354565 ENSP00000399445 Reactome Protein details: Q13085
Human Recombinant Protein Products for ACACA:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
ACACA for ontologies About GeneDecksing
ACACA Antibody Products:
Assay Products for ACACA: |
Protein
Domains /
Families
for ACACA gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ACACA for domains About GeneDecksing
5/16 InterPro domains/families (see all 16):Graphical View of Domain Structure for InterPro Entry Q13085ProtoNet protein and cluster: Q13085 2 Blocks protein families: IPB001882 Biotin-requiring enzyme IPB013537 Acetyl-CoA carboxylase
UniProtKB/Swiss-Prot: ACACA_HUMAN, Q13085Similarity: Contains 1 ATP-grasp domainSimilarity: Contains 1 biotin carboxylation domainSimilarity: Contains 1 biotinyl-binding domainSimilarity: Contains 1 carboxyltransferase domain |
Function
for ACACA gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: ACACA_HUMAN, Q13085Function: Catalyzes the rate-limiting reaction in the biogenesis of long-chain fatty acids. Carries out threefunctions: biotin carboxyl carrier protein, biotin carboxylase and carboxyltransferaseCatalytic activity: ATP + acetyl-CoA + HCO(3)(-) = ADP + phosphate + malonyl-CoACatalytic activity: ATP + biotin-[carboxyl-carrier-protein] + CO(2) = ADP + phosphate +carboxy-biotin-[carboxyl-carrier-protein]Enzyme regulation: By phosphorylation (By similarity). Activity is increased by oligomerization. Citrate and MID1IP1promote oligomerization Genatlas biochemistry entry for ACACA:acetyl-CoA carboxylase alpha,265kDa,biotine dependent,expressed in lipogenic tissues,cytosolic,catalyzing the synthesisof malonyl-CoA,an intermediate substrate playing a pivotal role in the regulation of fatty acid metabolism
Enzyme Number (IUBMB): EC 6.4.1.21
Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table
ACACA for ontologies About GeneDecksing
Phenotypes:
1 GenomeRNAi human phenotype for ACACA:
5 MGI mutant phenotypes (inferred from 4 alleles ) (MGI details for Acaca):
ACACA for phenotypes About GeneDecksing
Animal Models:
Mouse knock-outs for ACACA: Acacatm1.1Jkus Acacatm1Sjw
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ACACA (see all 7)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ACACA (see all 5)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 5): ACACA (NM_198838) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ACACA | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACACA |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACACA |
|
Pathways & Interactions
for ACACA gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/18 super-pathways (see all 18) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Saturated fatty acid biosynthesis | | | 2 | Regulation of Cholesterol Biosynthesis by SREBP (SREBF) | | | 3 | Metabolism | | | 4 | Fatty Acyl-CoA Biosynthesis | | | 5 | Development_Leptin signaling via PI3K-dependent pathway | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2 EMD Millipore Pathways for ACACA
1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for ACACA
1 
Cell Signaling Technology (CST) Pathway for ACACA
2  GeneGo (Thomson Reuters) Pathways for ACACA
5  BioSystems Pathways for ACACA
5/12 
Reactome Pathways for ACACA (see all 12)
1  PharmGKB Pathway for ACACA
5 
Kegg Pathways (Kegg details for ACACA):
UniProtKB/Swiss-Prot: ACACA_HUMAN, Q13085Pathway: Lipid metabolism; malonyl-CoA biosynthesis; malonyl-CoA from acetyl-CoA: step 1/1
ACACA for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ACACA
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/47 Interacting proteins for ACACA (Q130851, 3 ENSP000003447894) via UniProtKB, MINT, STRING, and/or I2D (see all 47)
| Interactant | Interaction Details |
|---|
| GeneCard | External ID(s) |
|---|
| BRCA1 | P383981, 3, ENSP000003502834 | EBI-717681,EBI-349905 I2D:
score=4 STRING: ENSP00000350283 | | SIRT1 | Q96EB61, 3, ENSP000002120154 | EBI-717681,EBI-1802965 I2D:
score=4 STRING: ENSP00000212015 | | AKR1B10 | O602181, 3, ENSP000003525844 | EBI-717681,EBI-1572139 I2D:
score=2 STRING: ENSP00000352584 | | ATXN1 | P542533, ENSP000002447694 | I2D:
score=3 STRING: ENSP00000244769 | | CSNK2A2 | P197843, ENSP000002625064 | I2D:
score=2 STRING: ENSP00000262506 |
About this table
Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0001894 | tissue homeostasis |
IEA | -- | | GO:0006084 | acetyl-CoA metabolic process |
ISS | -- | | GO:0006112 | energy reserve metabolic process |
TAS | -- | | GO:0006629 | lipid metabolic process |
-- | -- | | GO:0006633 | fatty acid biosynthetic process |
ISS | -- |
ACACA for ontologies About GeneDecksing
|
Drugs & Compounds
for ACACA gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
ACACA for compounds About GeneDecksing
 Browse Tocris compounds for ACACA
7 HMDB Compounds for ACACA About this table
1 DrugBank Compound for ACACA About this table
10/39 Novoseek chemical compound relationships for ACACA gene (see all 39) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| acetyl-coa |
96.2 |
219 |
19236960 (2), 12810950 (2), 15333468 (2), 16707454 (2) (see all 99) |
| aicar |
84 |
17 |
17173081 (3), 11420304 (2), 10548499 (1), 19190259 (1) (see all 9) |
| fatty acid |
83.7 |
199 |
17173081 (6), 7937924 (3), 18056116 (3), 15749055 (3) (see all 99) |
| malonyl-coa |
81.8 |
14 |
10212840 (2), 18614968 (1), 12392882 (1), 11420304 (1) (see all 7) |
| sterol |
75.6 |
23 |
19054139 (1), 20032471 (1), 15648028 (1), 19932008 (1) (see all 16) |
| cerulenin |
67.5 |
3 |
19932008 (1), 11444828 (1), 20372807 (1) |
| acadesine |
64.2 |
3 |
9781330 (1), 11423479 (1), 17173081 (1) |
| 2-bromopalmitate |
61.5 |
1 |
9032094 (1) |
| 3-hydroxy-3-methylglutaryl-coa |
58.7 |
2 |
19036562 (1) |
| carnitine |
58.1 |
4 |
7882173 (1), 11420304 (1), 15749055 (1), 16371598 (1) |
Search CenterWatch for drugs/clinical trials and news about ACACA
|
Transcripts
for ACACA gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for ACACA gene (7 alternative transcripts): NM_198834.1 NM_198836.1 NM_198837.1 NM_198838.1 NM_198839.1 NM_000664.3 NM_198835.1 Unigene Cluster for ACACA: Acetyl-CoA carboxylase alpha Hs.160556 [show with all ESTs]Unigene Representative Sequence: NM_19883918/26 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 26): ENST00000353139(uc010wdb.2 uc010wdc.2 uc010cuy.3 uc002hnn.3 uc002hno.3 uc002hnq.2)
ENST00000360679(uc002hnl.3) ENST00000394406(uc002hnm.3 uc010cuz.3)
ENST00000591119 ENST00000335166(uc002hnk.3) ENST00000587233 ENST00000586821
ENST00000593055 ENST00000592427 ENST00000586621 ENST00000587598 ENST00000587720
ENST00000590888 ENST00000592243 ENST00000456066 ENST00000591148 ENST00000394403(uc002hnp.1)
ENST00000451642(uc002hnr.1)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ACACA (see all 7)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ACACA (see all 5)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 5): ACACA (NM_198838) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ACACA | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACACA |
Additional cDNA sequence: AB209325.1 AB371587.1 AJ534888.1 AJ534889.1 AJ564444.1 AK129523.1 AK295586.1 AK295735.1 AK295805.1 AK296368.1 AK301579.1 AK308905.1 AK309084.1 AK309424.1 AK311329.1 AY237919.1 AY315619.1 AY315620.1 AY315621.1 AY315622.1 AY315623.1 AY315624.1 AY315625.1 AY315626.1 AY315627.1 BC031485.1 BC041598.1 BC137287.1 20 DOTS entries: DT.100736813 DT.100736812 DT.101985128 DT.101962203 DT.95073752 DT.101985129 DT.453728 DT.40126576 DT.95290901 DT.99980749 DT.306840 DT.40268334 DT.455923 DT.91753337 DT.101959023 DT.120894008 DT.405329 DT.95073749 DT.100804380 DT.120893919 24/310 AceView cDNA sequences (see all 310): BM712779 AL704604 BM553580 BM474453 BM676122 AY315624 BX096741 Z38467 CR614552 BQ215835 BU538128 Z42219 AY315627 BC031485 BM466101 CR598320 NM_198835 H94252 BU188290 CR626022 N95409 BM976528 NM_198837 AA587289
GeneLoc Exon Structure
5/10 Alternative Splicing Database (ASD) splice patterns (SP) for ACACA (see all 10) About this scheme
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | - | | - | | - | | - | | - | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32 | ^ | 33 | ^ | 34 | ^ | 35 | ^ | 36 | ^ | 37 | ^ | 38 | ^ | 39a | · | 39b | ^ | 40 | ^ | 41 | ^ | 42 | ^ | 43 | ^ | 44 | ^ | 45 | ^ | 46 | ^ | 47 | ^ |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 48 | ^ | 49 | ^ | 50 | ^ | 51 | ^ | 52 | ^ | 53 | ^ | 54 | ^ | 55 | ^ | 56 | ^ | 57 | ^ | 58 | ^ | 59 | ^ | 60 | ^ | 61a | · | 61b | ^ | 62 | ^ | 63a | · | 63b |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for ACACA
|
Expression
for ACACA gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| ACACA expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAAGGCTACT
About this image
See ACACA Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ACACA
SOURCE GeneReport for Unigene cluster: Hs.160556
UniProtKB/Swiss-Prot: ACACA_HUMAN, Q13085Tissue specificity: Expressed in brain, placental, skeletal muscle, renal, pancreatic and adipose tissues; expressed atlow level in pulmonary tissue; not detected in the liver
SABiosciences Expression via Pathway-Focused PCR Arrays including ACACA:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ACACA
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ACACA | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ACACA | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ACACA | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACACA |
Orthologs
for ACACA gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for ACACA gene from 8/36 species (see all 36) About this table
ENSEMBL Gene Tree for ACACA (if available)
TreeFam Gene Tree for ACACA (if available) |
Paralogs
for ACACA gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for ACACA gene
- ACACB2
2 SIMAP similar genes for ACACA using alignment to 13 protein entries: ACACA_HUMAN (see all proteins):ACC1 ACACB
ACACA for paralogs About GeneDecksing
|
Genomic Variants
for ACACA gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 17 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ACACA (35441923 - 35691923 bp, first 250kb of ACACA)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 9 variations for ACACA
8 CNVs: 67186 58789 88447 32174 30825 37507 4033 7156
1 Inversion: 37189
Human Gene Mutation Database (HGMD): ACACA
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ACACA |
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Disorders
/ Diseases
for ACACA gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
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ACACA for disorders About GeneDecksing
OMIM gene information: 200350
OMIM disorders: --
UniProtKB/Swiss-Prot: ACACA_HUMAN, Q13085
Defects in ACACA are a cause of acetyl-CoA carboxylase 1 deficiency (ACACAD) [MIM:613933]; also known as ACACdeficiency or ACC deficiency. An inborn error of de novo fatty acid synthesis associated with severe brain damage,persistent myopathy and poor growth
20/29  diseases for ACACA (see all 29): About MalaCardsacetyl-coa carboxylase deficiency multiple carboxylase deficiency insulin resistance fatty liver disease
breast cancer susceptibility hypobetalipoproteinemia breast cancer liver disease
liposarcoma uremia ovarian cancer ischemia
obesity colon cancer lung carcinoma prostate cancer
ataxia carcinoma cholesterol hypoxia
10/12 Novoseek disease relationships for ACACA gene (see all 12) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| fatty liver |
59 |
3 |
20457939 (1), 20139635 (1), 18395093 (1) |
| obesity |
45.1 |
6 |
19618481 (3), 19851294 (1), 20139635 (1), 20036965 (1) |
| insulin sensitivity |
43 |
5 |
16046303 (2), 19169664 (1), 1346611 (1) |
| hyperinsulinemia |
42.6 |
1 |
8869748 (1) |
| dyslipidemia |
33.1 |
1 |
19851294 (1) |
| insulin resistance |
27.7 |
2 |
19390150 (1), 19851294 (1) |
| ovarian cancer |
15.1 |
4 |
15333468 (1), 16707454 (1) |
| breast cancer |
4.89 |
30 |
15333468 (7), 17372234 (4), 17631500 (3), 16707454 (2) (see all 7) |
| ischemia |
0 |
1 |
11052978 (1) |
| shock |
0 |
2 |
12670701 (1) |
Genetic Association Database (GAD): ACACA
Human Genome Epidemiology (HuGE) Navigator: ACACA (15 documents)
Export disorders for ACACA gene to outside databases
|
Publications
for ACACA gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
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|
PubMed articles for ACACA gene, integrated from 9 sources (see all 289):
(articles sorted by number of sources associating them with ACACA) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Acetyl-CoA carboxylase alpha gene and breast cancer susceptibility. (PubMed id 15333468)1, 2, 4, 9 Sinilnikova O.M.... Lenoir G.M. (2004)
- Human acetyl-CoA carboxylase 1 gene: presence of three promoters and heterogeneity at the 5'-untranslated mRNA region. (PubMed id 12810950)1, 2, 9 Mao J.... Wakil S.J. (2003)
- Asymmetric expression of transcripts derived from the shared promoter between the divergently oriented ACACA and TADA2L genes. (PubMed id 15607423)1, 2, 9 Travers M.T....Joulin V. (2005)
- Characterisation of an N-terminal variant of acetyl-CoA carboxylase- alpha: expression in human tissues and evolutionary aspects. (PubMed id 14643797)1, 2, 9 Travers M.T....Barber M.C. (2003)
- BRCA1 affects lipid synthesis through its interaction with acetyl-CoA carboxylase. (PubMed id 16326698)1, 2, 9 Moreau K.... Venezia N.D. (2006)
- Human acetyl-CoA carboxylase: characterization, molecular cloning, and evidence for two isoforms. (PubMed id 7732023)1, 2, 9 Abu-Elheiga L.... Wakil S.J. (1995)
- BRCA1 interacts with acetyl-CoA carboxylase through its tandem of BRCT domains. (PubMed id 12360400)1, 2, 9 Magnard C.... Venezia N.D. (2002)
- ACCA phosphopeptide recognition by the BRCT repeats of BRCA1. (PubMed id 16698035)1, 2 Ray H.... Venezia N.D. (2006)
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
- Up-regulation of acetyl-CoA carboxylase alpha and fatty acid synthase by human epidermal growth factor receptor 2 at the translational level in breast cancer cells. (PubMed id 17631500)1, 9 Yoon S....Kim K.S. (2007)
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External Searches for ACACA gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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|
|
Genome Databases showing ACACA gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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|
Other Databases showing ACACA gene
(According to HUGE)
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| -- |
Specialized Databases showing ACACA gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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|
About This Section
| Patent Information for ACACA gene:
Search GeneIP for patents involving ACACA
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for ACACA gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
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