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

Gene ID: 122970, updated on 2-Nov-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, Nov 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 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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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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