Human Gene ACOT2 (ENST00000238651.10) from GENCODE V44
  Description: Homo sapiens acyl-CoA thioesterase 2 (ACOT2), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_006821)
RefSeq Summary (NM_006821): This gene encodes a member of the acyl-CoA thioesterase protein family, and is one of four acyl-CoA hydrolase genes located in a cluster on chromosome 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012].
Gencode Transcript: ENST00000238651.10
Gencode Gene: ENSG00000119673.16
Transcript (Including UTRs)
   Position: hg38 chr14:73,569,213-73,575,655 Size: 6,443 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg38 chr14:73,569,241-73,575,513 Size: 6,273 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:73,569,213-73,575,655)mRNA (may differ from genome)Protein (483 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDMGIneXtProtOMIMPubMed
ReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ACOT2_HUMAN
DESCRIPTION: RecName: Full=Acyl-coenzyme A thioesterase 2, mitochondrial; Short=Acyl-CoA thioesterase 2; EC=3.1.2.2; AltName: Full=Acyl-coenzyme A thioester hydrolase 2a; AltName: Full=CTE-Ia; AltName: Full=Long-chain acyl-CoA thioesterase 2; AltName: Full=ZAP128; Flags: Precursor;
FUNCTION: Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. Displays high levels of activity on medium- and long chain acyl CoAs.
CATALYTIC ACTIVITY: Palmitoyl-CoA + H(2)O = CoA + palmitate.
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=40.3 uM for C10-acyl-CoA; KM=8.9 uM for C12-acyl-CoA; KM=1.6 uM for C14-acyl-CoA; KM=2.0 uM for C16-acyl-CoA; KM=2.8 uM for C18-acyl-CoA; KM=4.8 uM for C20-acyl-CoA; KM=4.5 uM for C16:1-acyl-CoA; KM=6.1 uM for C18:1-acyl-CoA; KM=4.3 uM for C18:1-trans-acyl-CoA; Vmax=212 nmol/min/mg enzyme toward C10-acyl-CoA; Vmax=681 nmol/min/mg enzyme toward C12-acyl-CoA; Vmax=766 nmol/min/mg enzyme toward C14-acyl-CoA; Vmax=656 nmol/min/mg enzyme toward C16-acyl-CoA; Vmax=488 nmol/min/mg enzyme toward C18-acyl-CoA; Vmax=408 nmol/min/mg enzyme toward C20-acyl-CoA; Vmax=661 nmol/min/mg enzyme toward C16:1-acyl-CoA; Vmax=304 nmol/min/mg enzyme toward C18:1-acyl-CoA; Vmax=418 nmol/min/mg enzyme toward C18:1-trans-acyl-CoA;
SUBCELLULAR LOCATION: Mitochondrion.
TISSUE SPECIFICITY: Strongest expression in heart, liver, muscle and kidney. Weak in placenta and pancreas.
SIMILARITY: Belongs to the C/M/P thioester hydrolase family.
CAUTION: Was originally (PubMed:10944470) thought to be peroxisomal but was later shown (PubMed:16940157) to be mitochondrial.
SEQUENCE CAUTION: Sequence=AAC42007.1; Type=Frameshift; Positions=215, 226;

-  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: ACOT2
Diseases sorted by gene-association score: early-onset familial alzheimer disease (2)

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 18.47 RPKM in Esophagus - Muscularis
Total median expression: 428.68 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 -7.4028-0.264 Picture PostScript Text
3' UTR -19.20142-0.135 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
IPR016662 - Acyl-CoA_thioEstase_long-chain
IPR014940 - BAAT_C
IPR006862 - Thio_Ohase/aa_AcTrfase

Pfam Domains:
PF08840 - BAAT / Acyl-CoA thioester hydrolase C terminal
PF04775 - Acyl-CoA thioester hydrolase/BAAT N-terminal region

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


ModBase Predicted Comparative 3D Structure on P49753
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-  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 orthologGenome BrowserNo orthologNo orthologGenome BrowserNo ortholog
      
      
 RGD  WormBase 
 Protein Sequence  Protein Sequence 
 Alignment  Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005102 receptor binding
GO:0005515 protein binding
GO:0016290 palmitoyl-CoA hydrolase activity
GO:0016787 hydrolase activity
GO:0016790 thiolester hydrolase activity
GO:0047617 acyl-CoA hydrolase activity
GO:0052689 carboxylic ester hydrolase activity

Biological Process:
GO:0000038 very long-chain fatty acid metabolic process
GO:0001676 long-chain fatty acid metabolic process
GO:0006625 protein targeting to peroxisome
GO:0006637 acyl-CoA metabolic process

Cellular Component:
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0005782 peroxisomal matrix
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AK300886 - Homo sapiens cDNA FLJ54503 complete cds, highly similar to Acyl-coenzyme A thioesterase 1 (EC 3.1.2.2).
AK093131 - Homo sapiens cDNA FLJ35812 fis, clone TESTI2006051, highly similar to Acyl-coenzyme A thioesterase 1 (EC 3.1.2.2).
AK001939 - Homo sapiens cDNA FLJ11077 fis, clone PLACE1005101, highly similar to Homo sapiens (clone zap128) mRNA, 3' end of cds.
DQ082755 - Homo sapiens mitochondrial acyl-CoA thioesterase 2 (ACOT2) mRNA, complete cds; nuclear gene for mitochondrial product.
AK223635 - Homo sapiens mRNA for peroxisomal long-chain acyl-coA thioesterase variant, clone: FCC135H03.
BC006335 - Homo sapiens acyl-CoA thioesterase 2, mRNA (cDNA clone MGC:12586 IMAGE:4303771), complete cds.
DQ896406 - Synthetic construct Homo sapiens clone IMAGE:100010866; FLH194030.01L; RZPDo839E0969D acyl-CoA thioesterase 2 (ACOT2) gene, encodes complete protein.
DQ893488 - Synthetic construct clone IMAGE:100006118; FLH194034.01X; RZPDo839E0979D acyl-CoA thioesterase 2 (ACOT2) gene, encodes complete protein.
KJ905407 - Synthetic construct Homo sapiens clone ccsbBroadEn_14981 ACOT2 gene, encodes complete protein.
BC004436 - Homo sapiens acyl-CoA thioesterase 2, mRNA (cDNA clone IMAGE:2819682), partial cds.
BC006500 - Homo sapiens acyl-CoA thioesterase 2, mRNA (cDNA clone IMAGE:2819682), partial cds.
L40401 - Homo sapiens hypothetical protein mRNA, partial cds.
AY005822 - Homo sapiens peroxisomal long-chain acyl-coA thioesterase mRNA, complete cds.
CU678722 - Synthetic construct Homo sapiens gateway clone IMAGE:100017230 5' read ACOT2 mRNA.
KJ902181 - Synthetic construct Homo sapiens clone ccsbBroadEn_11575 ACOT2 gene, encodes complete protein.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-5972 - stearate biosynthesis
PWY-5994 - palmitate biosynthesis (cytoplasm)
PWY-5996 - oleate biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein P49753 (Reactome details) participates in the following event(s):

R-HSA-9033233 PEX5S,L binds cargo proteins containing PTS1
R-HSA-5690066 ACOT2,9,THEM4,5 hydrolyse MCFA-CoA, LCFA-CoA
R-HSA-9033236 PEX5S,L:Cargo binds PEX13:PEX14 of PEX13:PEX14:PEX2:PEX10:PEX12 (Docking and Translocation Complex)
R-HSA-9033241 Peroxisomal protein import
R-HSA-77289 Mitochondrial Fatty Acid Beta-Oxidation
R-HSA-392499 Metabolism of proteins
R-HSA-8978868 Fatty acid metabolism
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: ACOT2_HUMAN, ENST00000238651.1, ENST00000238651.2, ENST00000238651.3, ENST00000238651.4, ENST00000238651.5, ENST00000238651.6, ENST00000238651.7, ENST00000238651.8, ENST00000238651.9, NM_006821, P49753, PTE2, PTE2A, Q3I5F8, Q53EK4, Q9NUX4, uc001xon.1, uc001xon.2, uc001xon.3, uc001xon.4, uc001xon.5, uc001xon.6, uc001xon.7
UCSC ID: ENST00000238651.10
RefSeq Accession: NM_006821
Protein: P49753 (aka ACOT2_HUMAN)

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