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 rol... See more...

Aliases for CROT Gene

Aliases for CROT Gene

  • Carnitine O-Octanoyltransferase 2 3 5
  • COT 2 3 4
  • Peroxisomal Carnitine O-Octanoyltransferase 3 4
  • EC 2.3.1.137 4 51
  • Peroxisomal Carnitine Acyltransferase 3
  • EC 2.3.1 51
  • CROT 5

External Ids for CROT Gene

Previous GeneCards Identifiers for CROT Gene

  • GC07P085510
  • GC07P086573
  • GC07P086587
  • GC07P086619
  • GC07P086812
  • GC07P086974
  • GC07P081585
  • GC07P087347
  • GC07P087349
  • GC07P087367
  • GC07P087369
  • GC07P087365
  • GC07P087363
  • GC07P087351
  • GC07P087353
  • GC07P087355
  • GC07P087357
  • GC07P087359

Summaries for CROT Gene

Entrez Gene Summary for CROT Gene

  • 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]

GeneCards Summary for CROT Gene

CROT (Carnitine O-Octanoyltransferase) is a Protein Coding gene. Among its related pathways are Peroxisomal lipid metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and carnitine O-octanoyltransferase activity. An important paralog of this gene is CRAT.

UniProtKB/Swiss-Prot Summary for CROT Gene

  • Beta-oxidation of fatty acids. The highest activity concerns the C6 to C10 chain length substrate. Converts the end product of pristanic acid beta oxidation, 4,8-dimethylnonanoyl-CoA, to its corresponding carnitine ester.

Gene Wiki entry for CROT Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CROT Gene

Genomics for CROT Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CROT Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J087343 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 -0.4 -358 4.6 TBP ZBTB10 SP1 MXD4 FEZF1 NR2C1 MBD2 ZNF217 POLR2A ELF1 TP53TG1 CROT ENSG00000273623 ENSG00000276185 HSALNG0059378 TMEM243
GH07J087315 Promoter/Enhancer 1.1 EPDnew ENCODE 250.3 -28.5 -28513 2.4 BCL11A CEBPA CEBPB EP300 EBF1 SMARCA5 STAT3 TCF7L2 BATF SMARCE1 CROT TP53TG1 lnc-CROT-5 piR-36588-417 TMEM243
GH07J086643 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 20.7 -701.6 -701645 2 SIN3A ZNF341 ZBTB48 REST TAF1 ZBTB21 GLIS1 GATA2 L3MBTL2 ZNF560 GRM3 HSALNG0059351 CROT TP53TG1 ELAPOR2
GH07J087318 Enhancer 0.8 FANTOM5 ENCODE 18.2 -26.4 -26393 1 ZNF217 FOXA2 SAP130 RAD21 SIN3A CTCF PRDM10 FOXA1 FOXK2 POLR2A lnc-CROT-5 CROT TP53TG1 LOC101927420 piR-36588-417 TMEM243
GH07J087179 Enhancer 0.5 dbSUPER 27.2 -162.4 -162396 7.7 ATF4 ATF3 POLR2A ZNF121 CEBPG ENSG00000278236 lnc-TMEM243-2 CROT TP53TG1 ENSG00000200397 TMEM243 ELAPOR2 LOC101927420 DMTF1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CROT on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CROT

Top Transcription factor binding sites by QIAGEN in the CROT gene promoter:
  • FOXI1
  • HFH-3
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c
  • Sox5

Genomic Locations for CROT Gene

Latest Assembly
chr7:87,345,646-87,399,794
(GRCh38/hg38)
Size:
54,149 bases
Orientation:
Plus strand

Previous Assembly
chr7:86,974,980-87,029,110
(GRCh37/hg19 by Entrez Gene)
Size:
54,131 bases
Orientation:
Plus strand

chr7:86,974,997-87,029,111
(GRCh37/hg19 by Ensembl)
Size:
54,115 bases
Orientation:
Plus strand

Genomic View for CROT Gene

Genes around CROT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CROT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CROT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CROT Gene

Proteins for CROT Gene

  • Protein details for CROT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UKG9-OCTC_HUMAN
    Recommended name:
    Peroxisomal carnitine O-octanoyltransferase
    Protein Accession:
    Q9UKG9
    Secondary Accessions:
    • A4D1D6
    • E7EQF2
    • Q86V17
    • Q8IUW9
    • Q9Y6I2

    Protein attributes for CROT Gene

    Size:
    612 amino acids
    Molecular mass:
    70178 Da
    Quaternary structure:
    • Monomer.

    Alternative splice isoforms for CROT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CROT Gene

Selected DME Specific Peptides for CROT Gene

Q9UKG9:
  • LHPDTFIQLALQLAYYRLHG
  • PGITRDSI
  • DRHLLGL
  • FYHGRTET
  • RNWLEEWWLNVAYLDVRIPSQLNVNF
  • ALQLAYYR
  • AFAKHNKMM
  • VPMVHNGYGFFYHIRDDRFVV
  • PGCCYETAMTR
  • ETDAEKLV
  • EERTFQYQDSLP

Post-translational modifications for CROT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for CROT Gene

Gene Families for CROT Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins
  • Transporters

Protein Domains for CROT Gene

InterPro:
Blocks:
  • Acyltransferase ChoActase/COT/CPT
ProtoNet:

Suggested Antigen Peptide Sequences for CROT Gene

GenScript: Design optimal peptide antigens:
  • Peroxisomal carnitine O-octanoyltransferase (OCTC_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UKG9

UniProtKB/Swiss-Prot:

OCTC_HUMAN :
  • Belongs to the carnitine/choline acetyltransferase family.
Family:
  • Belongs to the carnitine/choline acetyltransferase family.
genes like me logo Genes that share domains with CROT: view

Function for CROT Gene

Molecular function for CROT Gene

UniProtKB/Swiss-Prot Function:
Beta-oxidation of fatty acids. The highest activity concerns the C6 to C10 chain length substrate. Converts the end product of pristanic acid beta oxidation, 4,8-dimethylnonanoyl-CoA, to its corresponding carnitine ester.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(R)-carnitine + octanoyl-CoA = CoA + O-octanoyl-(R)-carnitine; Xref=Rhea:RHEA:17177, ChEBI:CHEBI:16347, ChEBI:CHEBI:18102, ChEBI:CHEBI:57287, ChEBI:CHEBI:57386; EC=2.3.1.137; Evidence={ECO:0000269|PubMed:10486279};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(R)-carnitine + 4,8-dimethylnonanoyl-CoA = CoA + O-4,8-dimethylnonanoyl-(R)-carnitine; Xref=Rhea:RHEA:44860, ChEBI:CHEBI:16347, ChEBI:CHEBI:57287, ChEBI:CHEBI:77061, ChEBI:CHEBI:84654; Evidence={ECO:0000269|PubMed:10486279};.

Enzyme Numbers (IUBMB) for CROT Gene

Phenotypes From GWAS Catalog for CROT Gene

Gene Ontology (GO) - Molecular Function for CROT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI --
GO:0008458 carnitine O-octanoyltransferase activity TAS --
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
genes like me logo Genes that share ontologies with CROT: view
genes like me logo Genes that share phenotypes with CROT: view

Animal Models for research

  • Taconic Biosciences Mouse Models for CROT

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CROT

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CROT Gene

Localization for CROT Gene

Subcellular locations from UniProtKB/Swiss-Prot for CROT Gene

Peroxisome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CROT gene
Compartment Confidence
peroxisome 5
cytosol 5
extracellular 2
mitochondrion 2
nucleus 2
plasma membrane 1
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CROT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005777 peroxisome IBA,NAS 10486279
GO:0005782 peroxisomal matrix TAS --
GO:0005829 cytosol TAS --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with CROT: view

Pathways & Interactions for CROT Gene

genes like me logo Genes that share pathways with CROT: view

Pathways by source for CROT Gene

UniProtKB/Swiss-Prot Q9UKG9-OCTC_HUMAN

  • Pathway: Lipid metabolism; fatty acid beta-oxidation.

Gene Ontology (GO) - Biological Process for CROT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006091 generation of precursor metabolites and energy IDA 10486279
GO:0006625 protein targeting to peroxisome TAS --
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IMP 21619872
GO:0006635 fatty acid beta-oxidation IEA,IDA 21619872
genes like me logo Genes that share ontologies with CROT: view

No data available for SIGNOR curated interactions for CROT Gene

Drugs & Compounds for CROT Gene

(10) Drugs for CROT Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Carnitine Approved, Investigational Pharma Target 0
lauric acid Approved, Experimental Pharma 0
(3-Carboxy-2-(R)-Hydroxy-Propyl)-Trimethyl-Ammonium Experimental Pharma Target 0
3-Carboxy-N,N,N-Trimethyl-2-(Octanoyloxy)Propan-1-Aminium Experimental Pharma Target 0
Capric acid Experimental Pharma 0

(9) Additional Compounds for CROT Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
4,8 Dimethylnonanoyl carnitine
  • 4,8-Dimethylnonanoylcarnitine
4,8-Dimethylnonanoyl-CoA
  • 4(R)-8-Dimethyl-nonanoyl-CoA
  • 4(R)-8-Dimethyl-nonanoyl-coenzyme A
  • S-(4,8-Dimethylnonanoate
  • S-(4,8-Dimethylnonanoate)-CoA
  • S-(4,8-Dimethylnonanoate)-coenzyme A
204120-61-6
Caproic acid
  • 1-Hexanoic acid
  • 1-Pentanecarboxylic acid
  • 6:0
  • Butylacetic acid
  • C6:0
142-62-1
Cer(d18:1/20:0)
  • Cer(D18:1/20:0)
  • N-(Eicosanoyl)ceramide
  • N-(Eicosanoyl)sphing-4-enine
  • N-(Icosanoyl)ceramide
  • N-(Icosanoyl)sphing-4-enine
7344-02-7
L-Octanoylcarnitine
  • L-Octanoyl-L-carnitine
  • O-Octanoyl-(R)-carnitine
  • O-Octanoyl-R-carnitine
  • (-)-Octanoylcarnitine
  • L-Carnitine octanoyl ester
25243-95-2
genes like me logo Genes that share compounds with CROT: view

Transcripts for CROT Gene

mRNA/cDNA for CROT Gene

3 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CROT

Alternative Splicing Database (ASD) splice patterns (SP) for CROT Gene

No ASD Table

Relevant External Links for CROT Gene

GeneLoc Exon Structure for
CROT

Expression for CROT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CROT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CROT Gene

This gene is overexpressed in Cervix (19.7), Fetal Liver (17.0), Liver (7.9), and Urine (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CROT Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CROT

SOURCE GeneReport for Unigene cluster for CROT Gene:

Hs.125039

Evidence on tissue expression from TISSUES for CROT Gene

  • Nervous system(4.6)
  • Skin(4.4)
  • Liver(2.9)
  • Muscle(2.4)
genes like me logo Genes that share expression patterns with CROT: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CROT Gene

Orthologs for CROT Gene

This gene was present in the common ancestor of animals.

Orthologs for CROT Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CROT 30 31
  • 99.74 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CROT 30 31
  • 87.8 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CROT 30 31
  • 87.47 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Crot 30 17 31
  • 85.29 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Crot 30
  • 83.66 (n)
Oppossum
(Monodelphis domestica)
Mammalia CROT 31
  • 80 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CROT 31
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CROT 30 31
  • 69.83 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CROT 31
  • 67 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia crot 30
  • 67.58 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15914 30
Zebrafish
(Danio rerio)
Actinopterygii crot 30 31
  • 63.18 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7341 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002329 30
  • 45.43 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG12428 30 31 32
  • 42.79 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea CELE_T20B3.1 30
  • 45.18 (n)
T20B3.1 31 32
  • 31 (a)
OneToMany
F41E7.6 31 32
  • 31 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 44 (a)
OneToOne
Species where no ortholog for CROT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CROT Gene

ENSEMBL:
Gene Tree for CROT (if available)
TreeFam:
Gene Tree for CROT (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CROT: view image

Paralogs for CROT Gene

Paralogs for CROT Gene

(4) SIMAP similar genes for CROT Gene using alignment to 2 proteins:

  • OCTC_HUMAN
  • C9J3D7_HUMAN
genes like me logo Genes that share paralogs with CROT: view

Variants for CROT Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CROT Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs199970637 Benign: not provided 87,361,398(+) G/T
NM_021151.4(CROT):c.249G>T (p.Glu83Asp)
MISSENSE
rs374387256 Likely Benign: not provided 87,382,066(+) A/G
NM_021151.4(CROT):c.1063-8A>G
INTRON
rs3827653 - p.Arg94His
rs7785206 - p.Val474Leu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CROT Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CROT Gene

Variant ID Type Subtype PubMed ID
dgv3872e59 CNV tandem duplication 20981092
esv3425460 CNV duplication 20981092
esv3433151 CNV insertion 20981092
esv992601 CNV insertion 20482838
nsv1114982 CNV deletion 24896259
nsv1125915 CNV tandem duplication 24896259
nsv366901 CNV insertion 16902084
nsv428177 CNV loss 18775914
nsv464622 CNV gain 19166990
nsv607725 CNV gain 21841781

Variation tolerance for CROT Gene

Residual Variation Intolerance Score: 84.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.85; 48.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CROT Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CROT

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CROT Gene

Disorders for CROT Gene

Additional Disease Information for CROT

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

No disorders were found for CROT Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CROT Gene

Publications for CROT Gene

  1. Molecular cloning and expression of human carnitine octanoyltransferase: evidence for its role in the peroxisomal beta-oxidation of branched-chain fatty acids. (PMID: 10486279) Ferdinandusse S … Wanders RJ (Biochemical and biophysical research communications 1999) 2 3 4 23
  2. Structural model of a malonyl-CoA-binding site of carnitine octanoyltransferase and carnitine palmitoyltransferase I: mutational analysis of a malonyl-CoA affinity domain. (PMID: 11790793) Morillas M … Asins G (The Journal of biological chemistry 2002) 3 4 23
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for CROT Gene

Sources for CROT Gene