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    ACOT4 acyl-CoA thioesterase 4 [ Homo sapiens (human) ]

    Gene ID: 122970, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ACOT4provided by HGNC
    Official Full Name
    acyl-CoA thioesterase 4provided by HGNC
    Primary source
    HGNC:HGNC:19748
    See related
    Ensembl:ENSG00000177465 MIM:614314; AllianceGenome:HGNC:19748
    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
    PTE1B; PTE2B; PTE-Ib
    Summary
    Enables fatty acyl-CoA hydrolase activity and succinyl-CoA hydrolase activity. Involved in carboxylic acid metabolic process and succinyl-CoA metabolic process. Located in peroxisome. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in kidney (RPKM 4.8), liver (RPKM 2.8) and 21 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ACOT4 in Genome Data Viewer
    Location:
    14q24.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (73591873..73595766)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (67799383..67803276)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (74058577..74062470)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene HEAT repeat containing 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8701 Neighboring gene acyl-CoA thioesterase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8702 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8703 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 ATAC-STARR-seq lymphoblastoid active region 8704 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:74079399-74079898 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:74080557-74080801 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:74083421-74084009 Neighboring gene acyl-CoA thioesterase 6 Neighboring gene NADH:ubiquinone oxidoreductase subunit B8 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. ACOT4 accumulation via AKT-mediated phosphorylation promotes pancreatic tumourigenesis. Ni C, et al. Cancer Lett, 2021 Feb 1. PMID 33148467
    2. Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project. Auer PL, et al. JAMA Neurol, 2015 Jul. PMID 25961151, Free PMC Article
    3. Identification of PTE2, a human peroxisomal long-chain acyl-CoA thioesterase. Jones JM, et al. Biochem Biophys Res Commun, 2000 Aug 18. PMID 10944470
    4. The identification of a succinyl-CoA thioesterase suggests a novel pathway for succinate production in peroxisomes. Westin MA, et al. J Biol Chem, 2005 Nov 18. PMID 16141203
    5. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Sherrington R, et al. Nature, 1995 Jun 29. PMID 7596406

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ACOT4 accumulation via AKT-mediated phosphorylation promotes pancreatic tumourigenesis.
      Title: ACOT4 accumulation via AKT-mediated phosphorylation promotes pancreatic tumourigenesis.
    2. Exome sequencing revealed an association with ACOT4 and increased risk of ischemic stroke.
      Title: Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project.
    3. ACOT4 and ACOT8 are responsible for the termination of beta-oxidation of dicarboxylic acids of medium-chain length with the concomitant release of the corresponding free acids
      Title: The identification of a succinyl-CoA thioesterase suggests a novel pathway for succinate production in peroxisomes.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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 fatty acyl-CoA hydrolase activity TAS
    Traceable Author Statement
    more info
    		  
    enables succinyl-CoA hydrolase activity IDA
    Inferred from Direct Assay
    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 acyl-CoA metabolic process TAS
    Traceable Author Statement
    more info
    		  
    NOT involved_in butyrate metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in dicarboxylic acid catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in dicarboxylic acid metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in fatty acid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 saturated monocarboxylic acid metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in short-chain fatty acid metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in succinyl-CoA metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in unsaturated monocarboxylic 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 peroxisomal matrix TAS
    Traceable Author Statement
    more info
    		  
    is_active_in peroxisome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in peroxisome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    peroxisomal succinyl-coenzyme A thioesterase
    Names
    PTE-2b
    acyl-coenzyme A thioesterase 4
    peroxisomal acyl coenzyme A thioester hydrolase Ib
    peroxisomal acyl-CoA thioesterase 2B
    peroxisomal long-chain acyl-CoA thioesterase Ib
    NP_689544.3

    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_152331.4 → NP_689544.3  peroxisomal succinyl-coenzyme A thioesterase

      See identical proteins and their annotated locations for NP_689544.3

      Status: VALIDATED

      Source sequence(s)
      AC005225
      Consensus CDS
      CCDS9817.1
      UniProtKB/Swiss-Prot
      Q17RF4, Q5BKT6, Q86TX0, Q86TX1, Q8N9L9, Q96N88
      Related
      ENSP00000323071.4, ENST00000326303.5
      Conserved Domains (2) summary
      pfam08840
      Location:205 → 412
      BAAT_C; BAAT / Acyl-CoA thioester hydrolase C terminal
      pfam04775
      Location:17 → 137
      Bile_Hydr_Trans; Acyl-CoA thioester hydrolase/BAAT N-terminal region

    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
      73591873..73595766
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      67799383..67803276
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N9L9.2 GenPept UniProtKB/Swiss-Prot:Q8N9L9

    Gene LinkOut

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

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