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    ACOT6 acyl-CoA thioesterase 6 [ Homo sapiens (human) ]

    Gene ID: 641372, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ACOT6provided by HGNC
    Official Full Name
    acyl-CoA thioesterase 6provided by HGNC
    Primary source
    HGNC:HGNC:33159
    See related
    Ensembl:ENSG00000205669 MIM:614267; AllianceGenome:HGNC:33159
    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
    C14orf42; c14_5530
    Summary
    Predicted to enable fatty acyl-CoA hydrolase activity. Predicted to be involved in acyl-CoA metabolic process and fatty acid metabolic process. Located in cytosol. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See ACOT6 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 (73610945..73619888)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (67818457..67827400)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (74077649..74086592)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene HEAT repeat containing 4 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 acyl-CoA thioesterase 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:74080557-74080801 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:74083421-74084009 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8706 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36549 Neighboring gene NADH:ubiquinone oxidoreductase subunit B8 pseudogene 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36559 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36561 Neighboring gene dynein axonemal light chain 1 Neighboring gene RNA, U6 small nuclear 240, pseudogene

    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. Analysis of the mouse and human acyl-CoA thioesterase (ACOT) gene clusters shows that convergent, functional evolution results in a reduced number of human peroxisomal ACOTs. Hunt MC, et al. FASEB J, 2006 Sep. PMID 16940157
    2. A revised nomenclature for mammalian acyl-CoA thioesterases/hydrolases. Hunt MC, et al. J Lipid Res, 2005 Sep. PMID 16103133
    3. Exome sequencing supports a de novo mutational paradigm for schizophrenia. Xu B, et al. Nat Genet, 2011 Aug 7. PMID 21822266, Free PMC Article
    4. Architecture of the human interactome defines protein communities and disease networks. Huttlin EL, et al. Nature, 2017 May 25. PMID 28514442, Free PMC Article
    5. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article

    See all (7) 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

    Clone Names

    • MGC161656, MGC161658

    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 TAS
    Traceable Author Statement
    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 TAS
    Traceable Author Statement
    more info
    		  
    involved_in fatty acid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in fatty acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol 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 6
    Names
    putative acyl-CoA thioesterase 6
    putative acyl-coenzyme A thioesterase 6
    NP_001032239.1
    NP_001352717.1
    NP_001352718.1

    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_001037162.1 → NP_001032239.1  acyl-coenzyme A thioesterase 6 isoform 2

      See identical proteins and their annotated locations for NP_001032239.1

      Status: VALIDATED

      Source sequence(s)
      DQ082756
      Consensus CDS
      CCDS32118.1
      UniProtKB/TrEMBL
      G3V3W6
      Related
      ENSP00000370531.1, ENST00000381139.1
      Conserved Domains (1) summary
      pfam08840
      Location:1 → 198
      BAAT_C; BAAT / Acyl-CoA thioester hydrolase C terminal

    2. NM_001365788.1 → NP_001352717.1  acyl-coenzyme A thioesterase 6 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC005225
      Consensus CDS
      CCDS91900.1
      UniProtKB/Swiss-Prot
      A0A2R8Y7H3, Q3I5F7
      Related
      ENSP00000496277.1, ENST00000645972.2
      Conserved Domains (2) summary
      pfam04775
      Location:16 → 137
      Bile_Hydr_Trans; Acyl-CoA thioester hydrolase/BAAT N-terminal region
      pfam08840
      Location:203 → 412
      BAAT_C; BAAT / Acyl-CoA thioester hydrolase C terminal

    3. NM_001365789.1 → NP_001352718.1  acyl-coenzyme A thioesterase 6 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC005225
      Consensus CDS
      CCDS32118.1
      UniProtKB/TrEMBL
      G3V3W6
      Related
      ENSP00000451464.1, ENST00000554229.1
      Conserved Domains (1) summary
      pfam08840
      Location:1 → 198
      BAAT_C; BAAT / Acyl-CoA thioester hydrolase C terminal

    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
      73610945..73619888
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      67818457..67827400
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3I5F7.2 GenPept UniProtKB/Swiss-Prot:Q3I5F7

    Gene LinkOut

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

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