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

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; 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

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_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
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.
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.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D7S1646 (e-PCR)
- UniSTS:32574

RH36091 (e-PCR)
- UniSTS:65379

SHGC-17232 (e-PCR)
- UniSTS:30576

D8S2089 (e-PCR)
- UniSTS:35716

A004N35 (e-PCR)
- UniSTS:5839

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

EC 2.3.1.137

NP_001230674.1

EC 2.3.1.137

NP_066974.2

EC 2.3.1.137

XP_011514639.1

EC 2.3.1.137

XP_054214488.1

EC 2.3.1.137

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)

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
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
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

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

87345664..87399794

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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