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    CROT carnitine O-octanoyltransferase [ Homo sapiens (human) ]

    Gene ID: 54677, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CROTprovided by HGNC
    Official Full Name
    carnitine O-octanoyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:2366
    See related
    Ensembl:ENSG00000005469 MIM:606090; AllianceGenome:HGNC:2366
    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
    COT
    Summary
    This gene encodes a member of the carnitine/choline acetyltransferase family. The encoded protein converts 4,8-dimethylnonanoyl-CoA to its corresponding carnitine ester. This transesterification occurs in the peroxisome and is necessary for transport of medium- and long- chain acyl-CoA molecules out of the peroxisome to the cytosol and mitochondria. The protein thus plays a role in lipid metabolism and fatty acid beta-oxidation. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jan 2009]
    Expression
    Ubiquitous expression in thyroid (RPKM 12.0), urinary bladder (RPKM 8.5) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CROT in Genome Data Viewer
    Location:
    7q21.12
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (87345664..87399794)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (88595278..88649555)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (86974980..87029110)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375384 Neighboring gene NANOG hESC enhancer GRCh37_chr7:86830979-86831516 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26228 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26229 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26230 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18344 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18345 Neighboring gene transmembrane protein 243 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:86959096-86960295 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26231 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18346 Neighboring gene TP53 target 1 Neighboring gene ATP binding cassette subfamily B member 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26232 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18347 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18348 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18349 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 9 Neighboring gene ATP binding cassette subfamily B member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:87218704-87219204 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:87228303-87229502 Neighboring gene small nucleolar RNA U13

    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. Carnitine octanoyltransferase is important for the assimilation of exogenous acetyl-L-carnitine into acetyl-CoA in mammalian cells. Hsu J, et al. J Biol Chem, 2023 Feb. PMID 36587768, Free PMC Article
    2. Structural model of a malonyl-CoA-binding site of carnitine octanoyltransferase and carnitine palmitoyltransferase I: mutational analysis of a malonyl-CoA affinity domain. Morillas M, et al. J Biol Chem, 2002 Mar 29. PMID 11790793
    3. Changes in carnitine octanoyltransferase activity induce alteration in fatty acid metabolism. Le Borgne F, et al. Biochem Biophys Res Commun, 2011 Jun 17. PMID 21619872
    4. In vitro selection of adenine-dependent ribozyme against Tpl2/Cot oncogene. Li YL, et al. FEBS J, 2009 Jan. PMID 19054068
    5. CROT (Carnitine O-Octanoyltransferase) Is a Novel Contributing Factor in Vascular Calcification via Promoting Fatty Acid Metabolism and Mitochondrial Dysfunction. Okui T, et al. Arterioscler Thromb Vasc Biol, 2021 Feb. PMID 33356393, Free PMC Article

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Carnitine octanoyltransferase is important for the assimilation of exogenous acetyl-L-carnitine into acetyl-CoA in mammalian cells.
      Title: Carnitine octanoyltransferase is important for the assimilation of exogenous acetyl-L-carnitine into acetyl-CoA in mammalian cells.
    2. CROT (Carnitine O-Octanoyltransferase) Is a Novel Contributing Factor in Vascular Calcification via Promoting Fatty Acid Metabolism and Mitochondrial Dysfunction.
      Title: CROT (Carnitine O-Octanoyltransferase) Is a Novel Contributing Factor in Vascular Calcification via Promoting Fatty Acid Metabolism and Mitochondrial Dysfunction.
    3. These results suggest that CROT activity, by controlling the peroxisomal amount of medium chain acyls, may control the peroxisomal oxidative pathway.
      Title: Changes in carnitine octanoyltransferase activity induce alteration in fatty acid metabolism.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    6. Selected 'Tpl2/Cot-YL ribozyme' efficiently cleaves its target sequence in cis and in trans; furthermore, the ribozyme efficiently cleaves a longer target sequence of 54 nucleotides in trans, as well as the full-length mRNA.
      Title: In vitro selection of adenine-dependent ribozyme against Tpl2/Cot oncogene.
    7. CROT encodes carnitine octanoyltransferase, an enzyme known from rat studies to act on products of peroxisomal fatty acid oxidation. Medium-chain acylcarnitines are thought to be transported from peroxisomes to mitochondria.
      Title: Genomics of the human carnitine acyltransferase genes.
    8. Human CPT1A, CPT1B, CPT2, CROT and CRAT are known to encode active carnitine acyltransferases. Earlier pfam annotations refer to the non-existing compound CARNITATE. In 2000 this has been changed to CARNITINE.
      Title: Genomics of the human carnitine acyltransferase genes.
    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)

    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 carnitine O-octanoyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables carnitine O-octanoyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables carnitine O-octanoyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in carnitine metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in coenzyme A metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in fatty acid beta-oxidation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in fatty acid beta-oxidation using acyl-CoA oxidase TAS
    Traceable Author Statement
    more info
    		  
    involved_in fatty acid metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in fatty acid transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in generation of precursor metabolites and energy IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in medium-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 intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    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 
    located_in peroxisome NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    peroxisomal carnitine O-octanoyltransferase
    Names
    peroxisomal carnitine acyltransferase
    NP_001137407.1
    NP_001230674.1
    NP_066974.2
    XP_011514639.1
    XP_054214488.1

    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_001143935.2 → NP_001137407.1  peroxisomal carnitine O-octanoyltransferase isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AA062685, AF052187, AK127901, DA518578, DA865171
      Consensus CDS
      CCDS47634.1
      UniProtKB/TrEMBL
      C9J3D7
      Related
      ENSP00000413575.2, ENST00000419147.6
      Conserved Domains (1) summary
      pfam00755
      Location:20 → 631
      Carn_acyltransf; Choline/Carnitine o-acyltransferase

    2. NM_001243745.3 → NP_001230674.1  peroxisomal carnitine O-octanoyltransferase isoform 3

      See identical proteins and their annotated locations for NP_001230674.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) includes an alternate segment and a distinct 3' UTR compared to variant 1. The encoded isoform (3) is significantly shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      BC051874, DA518578
      Consensus CDS
      CCDS59062.1
      UniProtKB/Swiss-Prot
      Q9UKG9
      Related
      ENSP00000404867.2, ENST00000412227.6
      Conserved Domains (1) summary
      pfam00755
      Location:20 → 81
      Carn_acyltransf; Choline/Carnitine o-acyltransferase

    3. NM_021151.4 → NP_066974.2  peroxisomal carnitine O-octanoyltransferase isoform 2

      See identical proteins and their annotated locations for NP_066974.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The resulting isoform (2) is shorter but has the identical N- and C-termini compared to isoform 1.
      Source sequence(s)
      AA062685, BC039004, DA865171
      Consensus CDS
      CCDS5604.1
      UniProtKB/Swiss-Prot
      A4D1D6, E7EQF2, Q86V17, Q8IUW9, Q9UKG9, Q9Y6I2
      UniProtKB/TrEMBL
      C9J3D7
      Related
      ENSP00000331981.4, ENST00000331536.8
      Conserved Domains (1) summary
      pfam00755
      Location:20 → 603
      Carn_acyltransf; Choline/Carnitine o-acyltransferase

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      87345664..87399794
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011516337.4 → XP_011514639.1  peroxisomal carnitine O-octanoyltransferase isoform X1

      UniProtKB/TrEMBL
      C9J3D7
      Conserved Domains (1) summary
      pfam00755
      Location:20 → 573
      Carn_acyltransf; Choline/Carnitine o-acyltransferase

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      88595278..88649555
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358513.1 → XP_054214488.1  peroxisomal carnitine O-octanoyltransferase isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UKG9.2 GenPept UniProtKB/Swiss-Prot:Q9UKG9

    Gene LinkOut

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

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