Human Gene ACAA1 (ENST00000333167.13_7) from GENCODE V47lift37
  Description: acetyl-CoA acyltransferase 1, transcript variant 1 (from RefSeq NM_001607.4)
Gencode Transcript: ENST00000333167.13_7
Gencode Gene: ENSG00000060971.19_10
Transcript (Including UTRs)
   Position: hg19 chr3:38,164,206-38,178,618 Size: 14,413 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg19 chr3:38,164,538-38,178,526 Size: 13,989 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:38,164,206-38,178,618)mRNA (may differ from genome)Protein (424 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: THIK_HUMAN
DESCRIPTION: RecName: Full=3-ketoacyl-CoA thiolase, peroxisomal; EC=2.3.1.16; AltName: Full=Acetyl-CoA acyltransferase; AltName: Full=Beta-ketothiolase; AltName: Full=Peroxisomal 3-oxoacyl-CoA thiolase; Flags: Precursor;
CATALYTIC ACTIVITY: Acyl-CoA + acetyl-CoA = CoA + 3-oxoacyl-CoA.
PATHWAY: Lipid metabolism; fatty acid metabolism.
SUBUNIT: Homodimer.
SUBCELLULAR LOCATION: Peroxisome.
INDUCTION: Peroxisomal thiolase is markedly induced (at the level of transcription) by various hypolipidemic compounds in parallel with the other two enzymes of the peroxisomal beta-oxidation system.
SIMILARITY: Belongs to the thiolase family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ACAA1
Diseases sorted by gene-association score: chondrodysplasia punctata syndrome (12), alpha-methylacetoacetic aciduria (9), alpha-methylacyl-coa racemase deficiency (7), cardiomyopathy, hypertrophic, 20 (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 116.88 RPKM in Liver
Total median expression: 1177.85 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -35.6092-0.387 Picture PostScript Text
3' UTR -99.20332-0.299 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002155 - Thiolase
IPR016039 - Thiolase-like
IPR016038 - Thiolase-like_subgr
IPR020615 - Thiolase_acyl_enz_int_AS
IPR020610 - Thiolase_AS
IPR020617 - Thiolase_C
IPR020613 - Thiolase_CS
IPR020616 - Thiolase_N

Pfam Domains:
PF00108 - Thiolase, N-terminal domain
PF02803 - Thiolase, C-terminal domain

SCOP Domains:
53901 - Thiolase-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2IIK - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P09110
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologGenome Browser
Gene Details    Gene Details
Gene Sorter    Gene Sorter
  Ensembl  SGD
     Protein Sequence
     Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0003988 acetyl-CoA C-acyltransferase activity
GO:0005515 protein binding
GO:0008775 acetate CoA-transferase activity
GO:0016401 palmitoyl-CoA oxidase activity
GO:0016740 transferase activity
GO:0016746 transferase activity, transferring acyl groups
GO:0016747 transferase activity, transferring acyl groups other than amino-acyl groups

Biological Process:
GO:0000038 very long-chain fatty acid metabolic process
GO:0006625 protein targeting to peroxisome
GO:0006629 lipid metabolic process
GO:0006631 fatty acid metabolic process
GO:0006635 fatty acid beta-oxidation
GO:0008152 metabolic process
GO:0008206 bile acid metabolic process
GO:0033540 fatty acid beta-oxidation using acyl-CoA oxidase
GO:0036109 alpha-linolenic acid metabolic process
GO:0043312 neutrophil degranulation

Cellular Component:
GO:0005576 extracellular region
GO:0005777 peroxisome
GO:0005782 peroxisomal matrix
GO:0005829 cytosol
GO:0016020 membrane
GO:0035580 specific granule lumen
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  X51460 - H. sapiens mRNA for peroxisomal 3-oxoacyl-CoA thiolase.
BC011977 - Homo sapiens acetyl-Coenzyme A acyltransferase 1, mRNA (cDNA clone MGC:9371 IMAGE:3860150), complete cds.
GQ900896 - Homo sapiens clone HEL-T-8 epididymis secretory sperm binding protein mRNA, complete cds.
HM005510 - Homo sapiens clone HTL-T-197 testicular tissue protein Li 197 mRNA, complete cds.
AF035295 - Homo sapiens clone 23623 mRNA, partial cds.
BC014474 - Homo sapiens acetyl-Coenzyme A acyltransferase 1, mRNA (cDNA clone MGC:23127 IMAGE:4908159), complete cds.
AK025138 - Homo sapiens cDNA: FLJ21485 fis, clone COL05258, highly similar to HS3OCT Human liver mRNA for 3-oxoacyl-CoA thiolase.
BC025780 - Homo sapiens acetyl-Coenzyme A acyltransferase 1, mRNA (cDNA clone IMAGE:5222787), with apparent retained intron.
BC039837 - Homo sapiens acetyl-Coenzyme A acyltransferase 1, mRNA (cDNA clone IMAGE:5215300), containing frame-shift errors.
BC000635 - Homo sapiens acetyl-Coenzyme A acyltransferase 1, mRNA (cDNA clone MGC:1165 IMAGE:3345271), complete cds.
AK127051 - Homo sapiens cDNA FLJ45108 fis, clone BRAWH3033513, highly similar to 3-ketoacyl-CoA thiolase, peroxisomal precursor (EC 2.3.1.16).
X14813 - Human liver mRNA for 3-oxoacyl-CoA thiolase.
JD363435 - Sequence 344459 from Patent EP1572962.
JD274116 - Sequence 255140 from Patent EP1572962.
JD426493 - Sequence 407517 from Patent EP1572962.
JD281764 - Sequence 262788 from Patent EP1572962.
JD241346 - Sequence 222370 from Patent EP1572962.
JD550148 - Sequence 531172 from Patent EP1572962.
JD367465 - Sequence 348489 from Patent EP1572962.
AK293716 - Homo sapiens cDNA FLJ55549 complete cds, highly similar to 3-ketoacyl-CoA thiolase, peroxisomal precursor (EC 2.3.1.16).
X12966 - Human mRNA for 3-oxoacyl-CoA peroxisomal thiolase.
JD309346 - Sequence 290370 from Patent EP1572962.
JD303759 - Sequence 284783 from Patent EP1572962.
JD067299 - Sequence 48323 from Patent EP1572962.
JD423719 - Sequence 404743 from Patent EP1572962.
JD313464 - Sequence 294488 from Patent EP1572962.
KJ890610 - Synthetic construct Homo sapiens clone ccsbBroadEn_00004 ACAA1 gene, encodes complete protein.
KJ896362 - Synthetic construct Homo sapiens clone ccsbBroadEn_05756 ACAA1 gene, encodes complete protein.
DQ891298 - Synthetic construct clone IMAGE:100003928; FLH170872.01X; RZPDo839C07100D acetyl-Coenzyme A acyltransferase 1 (peroxisomal 3-oxoacyl-Coenzyme A thiolase) (ACAA1) gene, encodes complete protein.
DQ893346 - Synthetic construct clone IMAGE:100005976; FLH196467.01X; RZPDo839D09156D acetyl-Coenzyme A acyltransferase 1 (peroxisomal 3-oxoacyl-Coenzyme A thiolase) (ACAA1) gene, encodes complete protein.
DQ894482 - Synthetic construct Homo sapiens clone IMAGE:100008942; FLH170868.01L; RZPDo839C0799D acetyl-Coenzyme A acyltransferase 1 (peroxisomal 3-oxoacyl-Coenzyme A thiolase) (ACAA1) gene, encodes complete protein.
AB529164 - Synthetic construct DNA, clone: pF1KE1034, Homo sapiens ACAA1 gene for acetyl-Coenzyme A acyltransferase 1, without stop codon, in Flexi system.
AK303251 - Homo sapiens cDNA FLJ61196 complete cds, highly similar to 3-ketoacyl-CoA thiolase, peroxisomal precursor (EC 2.3.1.16).
AK301056 - Homo sapiens cDNA FLJ54941 complete cds, highly similar to 3-ketoacyl-CoA thiolase, peroxisomal precursor (EC 2.3.1.16).
AK316551 - Homo sapiens cDNA, FLJ79450 complete cds, highly similar to 3-ketoacyl-CoA thiolase, peroxisomal precursor (EC 2.3.1.16).
CU680144 - Synthetic construct Homo sapiens gateway clone IMAGE:100019333 5' read ACAA1 mRNA.
CU677013 - Synthetic construct Homo sapiens gateway clone IMAGE:100017034 5' read ACAA1 mRNA.
JD558009 - Sequence 539033 from Patent EP1572962.
JD467175 - Sequence 448199 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-8182 - valproate β-oxidation
PWY66-391 - fatty acid β-oxidation (peroxisome)

Reactome (by CSHL, EBI, and GO)

Protein P09110 (Reactome details) participates in the following event(s):

R-HSA-9033529 TYSND1 cleaves ACAA1
R-HSA-390250 3-ketohexacosanoyl-CoA + CoASH => tetracosanoyl-CoA + acetyl-CoA
R-HSA-2066788 Formation of DHA-CoA catalysed by 3-ketoacyl-CoA thiolase
R-HSA-6798749 Exocytosis of specific granule lumen proteins
R-HSA-9033232 PEX7 binds cargo proteins containing PTS2
R-HSA-9033240 PEX5L binds PEX7:Cargo protein
R-HSA-9033238 PEX5L:PEX7:Cargo binds PEX13:PEX14 of PEX13:PEX14:PEX2:PEX10:PEX12 (Docking and Translocation Complex)
R-HSA-9033500 TYSND1 cleaves peroxisomal proteins
R-HSA-9033241 Peroxisomal protein import
R-HSA-390247 Beta-oxidation of very long chain fatty acids
R-HSA-2046106 alpha-linolenic acid (ALA) metabolism
R-HSA-6798695 Neutrophil degranulation
R-HSA-392499 Metabolism of proteins
R-HSA-390918 Peroxisomal lipid metabolism
R-HSA-2046104 alpha-linolenic (omega3) and linoleic (omega6) acid metabolism
R-HSA-168249 Innate Immune System
R-HSA-8978868 Fatty acid metabolism
R-HSA-168256 Immune System
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: ACAA, ACAA1 , ENST00000333167.1, ENST00000333167.10, ENST00000333167.11, ENST00000333167.12, ENST00000333167.2, ENST00000333167.3, ENST00000333167.4, ENST00000333167.5, ENST00000333167.6, ENST00000333167.7, ENST00000333167.8, ENST00000333167.9, G5E935, NM_001607, P09110, PTHIO, Q96CA6, THIK_HUMAN, uc317tpt.1, uc317tpt.2
UCSC ID: ENST00000333167.13_7
RefSeq Accession: NM_001607.4
Protein: P09110 (aka THIK_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.