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    ACOT2 acyl-CoA thioesterase 2 [ Homo sapiens (human) ]

    Gene ID: 10965, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ACOT2provided by HGNC
    Official Full Name
    acyl-CoA thioesterase 2provided by HGNC
    Primary source
    HGNC:HGNC:18431
    See related
    Ensembl:ENSG00000119673 MIM:609972; AllianceGenome:HGNC:18431
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MTE1; PTE2; CTE1A; PTE2A; CTE-IA; ZAP128
    Summary
    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]
    Expression
    Broad expression in fat (RPKM 57.3), liver (RPKM 39.8) and 21 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ACOT2 in Genome Data Viewer
    Location:
    14q24.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (73567620..73575658)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (67775130..67783167)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (74034324..74042362)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene HEAT repeat containing 4 Neighboring gene acyl-CoA thioesterase 1 Neighboring gene uncharacterized LOC124903344 Neighboring gene 5',3'-nucleotidase, cytosolic pseudogene 2 Neighboring gene NANOG hESC enhancer GRCh37_chr14:74020474-74020986 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36531 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:74033223-74033740 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:74034134-74035333 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36532 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8701 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8703 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8702 Neighboring gene 5',3'-nucleotidase, cytosolic pseudogene 1 Neighboring gene tRNA-Lys (TTT) 14-1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:74058811-74059310 Neighboring gene acyl-CoA thioesterase 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. High Expression of ACOT2 Predicts Worse Overall Survival and Abnormal Lipid Metabolism: A Potential Target for Acute Myeloid Leukemia. Yin X, et al. J Healthc Eng, 2022. PMID 36193167, Free PMC Article
    2. Crystal structure of human mitochondrial acyl-CoA thioesterase (ACOT2). Mandel CR, et al. Biochem Biophys Res Commun, 2009 Aug 7. PMID 19497300, Free PMC Article
    3. Acyl-Coa Thioesterases: A Rheostat That Controls Activated Fatty Acids Modulates Dengue Virus Serotype 2 Replication. St Clair LA, et al. Viruses, 2022 Jan 25. PMID 35215835, Free PMC Article
    4. Identification of PTE2, a human peroxisomal long-chain acyl-CoA thioesterase. Jones JM, et al. Biochem Biophys Res Commun, 2000 Aug 18. PMID 10944470
    5. Molecular cloning and characterization of two mouse peroxisome proliferator-activated receptor alpha (PPARalpha)-regulated peroxisomal acyl-CoA thioesterases. Westin MA, et al. J Biol Chem, 2004 May 21. PMID 15007068

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. High Expression of ACOT2 Predicts Worse Overall Survival and Abnormal Lipid Metabolism: A Potential Target for Acute Myeloid Leukemia.
      Title: High Expression of ACOT2 Predicts Worse Overall Survival and Abnormal Lipid Metabolism: A Potential Target for Acute Myeloid Leukemia.
    2. Acyl-Coa Thioesterases: A Rheostat That Controls Activated Fatty Acids Modulates Dengue Virus Serotype 2 Replication.
      Title: Acyl-Coa Thioesterases: A Rheostat That Controls Activated Fatty Acids Modulates Dengue Virus Serotype 2 Replication.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    5. the crystal structure at 2.1A resolution of human mitochondrial ACOT2, a type I enzyme is reported.
      Title: Crystal structure of human mitochondrial acyl-CoA thioesterase (ACOT2).
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables carboxylic ester hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables fatty acyl-CoA hydrolase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables fatty acyl-CoA hydrolase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in acyl-CoA metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in acyl-CoA metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in fatty acid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in long-chain fatty acid metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in very long-chain fatty acid metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in peroxisomal matrix TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    acyl-coenzyme A thioesterase 2, mitochondrial
    Names
    acyl-coenzyme A thioester hydrolase 2a
    long-chain acyl-CoA thioesterase 2
    mitochondrial acyl-CoA thioesterase 1
    peroxisomal long-chain acyl-coA thioesterase 2
    NP_001351106.1
    NP_001351107.1
    NP_006812.3

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001364177.1 → NP_001351106.1  acyl-coenzyme A thioesterase 2, mitochondrial isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC005225
      UniProtKB/TrEMBL
      B3KSA0
      Conserved Domains (1) summary
      pfam08840
      Location:69 → 277
      BAAT_C; BAAT / Acyl-CoA thioester hydrolase C terminal

    2. NM_001364178.1 → NP_001351107.1  acyl-coenzyme A thioesterase 2, mitochondrial isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC005225
      Conserved Domains (2) summary
      pfam04775
      Location:78 → 198
      Bile_Hydr_Trans; Acyl-CoA thioester hydrolase/BAAT N-terminal region
      cl21494
      Location:266 → 282
      Abhydrolase; alpha/beta hydrolases

    3. NM_006821.6 → NP_006812.3  acyl-coenzyme A thioesterase 2, mitochondrial isoform 1

      See identical proteins and their annotated locations for NP_006812.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the functional protein.
      Source sequence(s)
      AC005225
      Consensus CDS
      CCDS9816.1
      UniProtKB/Swiss-Prot
      P49753, Q3I5F8, Q53EK4, Q9NUX4
      UniProtKB/TrEMBL
      A0A087WT95
      Related
      ENSP00000238651.5, ENST00000238651.10
      Conserved Domains (3) summary
      pfam04775
      Location:79 → 198
      Bile_Hydr_Trans; Acyl-CoA thioester hydrolase/BAAT N-terminal region
      pfam08840
      Location:266 → 474
      BAAT_C; BAAT / Acyl-CoA thioester hydrolase C terminal
      cl21494
      Location:207 → 319
      Abhydrolase; alpha/beta hydrolases

    RNA

    1. NR_046028.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC005225, AI537078, AK093131
      Related
      ENST00000538782.2

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      73567620..73575658
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      67775130..67783167
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P49753.6 GenPept UniProtKB/Swiss-Prot:P49753

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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