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

    Gene ID: 23597, updated on 27-Nov-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (23701055..23743276, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (23284668..23326884, complement)
    RS_2024_09 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 (90) 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)

    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
    		  
    located_in mitochondrion HTP PubMed 
    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_2024_08

    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

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

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