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ACOT9 acyl-CoA thioesterase 9 [ Homo sapiens (human) ]

Gene ID: 23597, updated on 7-Apr-2024

Summary

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Official Symbol
ACOT9provided by HGNC
Official Full Name
acyl-CoA thioesterase 9provided by HGNC
Primary source
HGNC:HGNC:17152
See related
Ensembl:ENSG00000123130 MIM:300862; AllianceGenome:HGNC:17152
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ACATE2; CGI-16; MTACT48; MT-ACT48
Summary
The protein encoded by this gene is a mitochondrial acyl-CoA thioesterase of unknown function. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
Expression
Ubiquitous expression in heart (RPKM 10.2), appendix (RPKM 7.2) and 25 other tissues See more
Orthologs
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Genomic context

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See ACOT9 in Genome Data Viewer
Location:
Xp22.11
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (23701055..23743276, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (23284668..23326884, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (23719172..23761393, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U13 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:23526452-23526963 Neighboring gene Sharpr-MPRA regulatory region 9198 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:23677931-23678536 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:23678537-23679142 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:23682591-23683125 Neighboring gene Sharpr-MPRA regulatory region 11823 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20704 Neighboring gene peroxiredoxin 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29490 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20705 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:23770819-23771006 Neighboring gene SAT1 divergent transcript Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:23798968-23799606 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:23800811-23802010 Neighboring gene uncharacterized LOC127933115 Neighboring gene spermidine/spermine N1-acetyltransferase 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. Molecular cloning and characterization of MT-ACT48, a novel mitochondrial acyl-CoA thioesterase. Poupon V, et al. J Biol Chem, 1999 Jul 2. PMID 10383425
  2. A revised nomenclature for mammalian acyl-CoA thioesterases/hydrolases. Hunt MC, et al. J Lipid Res, 2005 Sep. PMID 16103133
  3. FCH domain only-2 organizes clathrin-coated structures and interacts with Disabled-2 for low-density lipoprotein receptor endocytosis. Mulkearns EE, et al. Mol Biol Cell, 2012 Apr. PMID 22323290, Free PMC Article
  4. KCMF1 (potassium channel modulatory factor 1) Links RAD6 to UBR4 (ubiquitin N-recognin domain-containing E3 ligase 4) and lysosome-mediated degradation. Hong JH, et al. Mol Cell Proteomics, 2015 Mar. PMID 25582440, Free PMC Article
  5. NYAP: a phosphoprotein family that links PI3K to WAVE1 signalling in neurons. Yokoyama K, et al. EMBO J, 2011 Sep 23. PMID 21946561, Free PMC Article

See all (77) citations in PubMed

GeneRIFs: Gene References Into Functions

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)

Genotypes

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 acetyl-CoA hydrolase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
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 ISS
Inferred from Sequence or Structural Similarity
more info
  
enables long-chain fatty acyl-CoA hydrolase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
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 ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in mitochondrial matrix ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
acyl-coenzyme A thioesterase 9, mitochondrial
Names
acyl-CoA thioester hydrolase 9
acyl-Coenzyme A thioesterase 2, mitochondrial
mitochondrial Acyl-CoA Thioesterase

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.

Genomic

  1. NG_016780.2 RefSeqGene

    Range
    5015..47236
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001033583.3 → NP_001028755.2  acyl-coenzyme A thioesterase 9, mitochondrial isoform b precursor

    See identical proteins and their annotated locations for NP_001028755.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AC093011, AK000659, BX648512
    Consensus CDS
    CCDS35216.1
    UniProtKB/Swiss-Prot
    B3KNC9, B7ZM94, Q9Y305
    Related
    ENSP00000336580.7, ENST00000336430.11
    Conserved Domains (1) summary
    cd03442
    Location:286 → 395
    BFIT_BACH; Brown fat-inducible thioesterase (BFIT). Brain acyl-CoA hydrolase (BACH). These enzymes deacylate long-chain fatty acids by hydrolyzing acyl-CoA thioesters to free fatty acids and CoA-SH. Eukaryotic members of this family are expressed in brain, testis, ...

  2. NM_001037171.2 → NP_001032248.1  acyl-coenzyme A thioesterase 9, mitochondrial isoform a precursor

    See identical proteins and their annotated locations for NP_001032248.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AC093011, AL548456, BX648512
    Consensus CDS
    CCDS43924.1
    UniProtKB/Swiss-Prot
    Q9Y305
    Related
    ENSP00000368605.5, ENST00000379303.10
    Conserved Domains (1) summary
    cd03442
    Location:295 → 404
    BFIT_BACH; Brown fat-inducible thioesterase (BFIT). Brain acyl-CoA hydrolase (BACH). These enzymes deacylate long-chain fatty acids by hydrolyzing acyl-CoA thioesters to free fatty acids and CoA-SH. Eukaryotic members of this family are expressed in brain, testis, ...

  3. NM_001330259.2 → NP_001317188.1  acyl-coenzyme A thioesterase 9, mitochondrial isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in its 5' UTR and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) has a shorter N-terminus, compared to isoform a.
    Source sequence(s)
    AC093011, AC131011
    Consensus CDS
    CCDS83460.1
    UniProtKB/Swiss-Prot
    Q9Y305
    Related
    ENSP00000368597.1, ENST00000379295.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    23701055..23743276 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    23284668..23326884 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_012332.1: Suppressed sequence

    Description
    NM_012332.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y305.2 GenPept UniProtKB/Swiss-Prot:Q9Y305

Gene LinkOut

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