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

Gene ID: 54677, updated on 11-Sep-2019

Summary

Official Symbol
CROTprovided by HGNC
Official Full Name
carnitine O-octanoyltransferaseprovided by HGNC
Primary source
HGNC:HGNC:2366
See related
Ensembl:ENSG00000005469 MIM:606090
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

Genomic context

See CROT in Genome Data Viewer
Location:
7q21.12
Exon count:
21
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (87345646..87399794)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (86974951..87029112)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375384 Neighboring gene transmembrane protein 243 Neighboring gene TP53 target 1 Neighboring gene ATP binding cassette subfamily B member 4 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 9 Neighboring gene ATP binding cassette subfamily B member 1 Neighboring gene RUN domain containing 3B

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from BioSystems

  • Beta-oxidation of pristanoyl-CoA, organism-specific biosystem (from REACTOME)
    Beta-oxidation of pristanoyl-CoA, organism-specific biosystemPristanoyl-CoA, generated in the peroxisome by alpha-oxidation of dietary phytanic acid, is further catabolized by three cycles of peroxisomal beta-oxidation to yield 4,8-dimethylnonanoyl-CoA, acetyl...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Peroxisomal lipid metabolism, organism-specific biosystem (from REACTOME)
    Peroxisomal lipid metabolism, organism-specific biosystemIn humans, the catabolism of phytanate, pristanate, and very long chain fatty acids as well as the first four steps of the biosynthesis of plasmalogens are catalyzed by peroxisomal enzymes. Defects i...
  • Peroxisome, organism-specific biosystem (from KEGG)
    Peroxisome, organism-specific biosystemPeroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contribute to many crucial metabolic processes such as fatty acid oxidation, biosynthesis of ...
  • Peroxisome, conserved biosystem (from KEGG)
    Peroxisome, conserved biosystemPeroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contribute to many crucial metabolic processes such as fatty acid oxidation, biosynthesis of ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
peroxisomal carnitine O-octanoyltransferase
Names
peroxisomal carnitine acyltransferase
NP_001137407.1
NP_001230674.1
NP_066974.2
XP_011514639.1
XP_016867859.1

NCBI Reference Sequences (RefSeq)

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_001143935.2NP_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/Swiss-Prot
    Q9UKG9
    Related
    ENSP00000413575.2, ENST00000419147.6
    Conserved Domains (1) summary
    pfam00755
    Location:20631
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
  2. NM_001243745.2NP_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)
    AC005045, BC006015, BC051874, DA518578
    Consensus CDS
    CCDS59062.1
    UniProtKB/Swiss-Prot
    Q9UKG9
    Related
    ENSP00000404867.2, ENST00000412227.6
    Conserved Domains (1) summary
    pfam00755
    Location:2081
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
  3. NM_021151.4NP_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
    Q9UKG9
    Related
    ENSP00000331981.3, ENST00000331536.7
    Conserved Domains (1) summary
    pfam00755
    Location:20603
    Carn_acyltransf; Choline/Carnitine o-acyltransferase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    87345646..87399794
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011516337.3XP_011514639.1  peroxisomal carnitine O-octanoyltransferase isoform X1

    Conserved Domains (1) summary
    pfam00755
    Location:20573
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
  2. XM_017012370.1XP_016867859.1  peroxisomal carnitine O-octanoyltransferase isoform X2

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