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Aliases for CROT Gene

Aliases for CROT Gene

  • Carnitine O-Octanoyltransferase 2 3 5
  • EC 2.3.1.137 4 61
  • COT 3 4
  • Peroxisomal Carnitine O-Octanoyltransferase 3
  • Peroxisomal Carnitine Acyltransferase 3
  • EC 2.3.1 61

External Ids for CROT Gene

Previous GeneCards Identifiers for CROT Gene

  • GC07P085510
  • GC07P086573
  • GC07P086587
  • GC07P086619
  • GC07P086812
  • GC07P086974
  • GC07P081585
  • GC07P087347
  • GC07P087349
  • GC07P087351
  • GC07P087353

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. Diseases associated with CROT include Refsum Disease. Among its related pathways are Metabolism and Peroxisome. GO annotations related to this gene include receptor binding and carnitine O-octanoyltransferase activity. An important paralog of this gene is CRAT.

UniProtKB/Swiss-Prot 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CROT Gene

Genomics for CROT Gene

Regulatory Elements for CROT Gene

Enhancers for CROT Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F087318 1.2 FANTOM5 Ensembl ENCODE 18.2 -26.4 -26383 1.0 CTCF SAP130 SP5 FOXA3 DMAP1 ZNF48 ZNF644 RAD21 E2F1 GATA3 CROT TP53TG1 LOC101927420 PIR31944 ENSG00000273623
GH07F087331 1 ENCODE 12 -13.7 -13711 2.6 ATF1 ARNT ELK1 GATA2 KLF13 NCOA1 CREB3 MBD2 MEF2D SMARCA4 TP53TG1 CROT LOC101927420 ENSG00000273623 PIR31944
GH07F087375 0.8 ENCODE 11 +30.4 30440 1.0 ESRRA ATF1 ZNF175 FOSL1 GATA3 ZNF766 NFE2 NR2F6 ZNF584 TCF7L2 CROT TP53TG1 GC07P087409
GH07F087369 0.2 ENCODE 12 +23.8 23765 0.2 CROT TP53TG1 GC07P087409
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CROT on UCSC Golden Path with GeneCards custom track

Promoters for CROT Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001561581 -535 3001 HDGF PKNOX1 ATF1 MLX ARID4B SIN3A FEZF1 ZNF48 ZNF2 YY1
ENSR00001893791 1265 200

Genomic Location for CROT Gene

Chromosome:
7
Start:
87,345,635 bp from pter
End:
87,399,796 bp from pter
Size:
54,162 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

Protein Domains for CROT Gene

Suggested Antigen Peptide Sequences for CROT Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for CROT Gene

Function for CROT Gene

Molecular function for CROT Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Octanoyl-CoA + L-carnitine = CoA + L-octanoylcarnitine.
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.

Enzyme Numbers (IUBMB) for CROT Gene

Gene Ontology (GO) - Molecular Function for CROT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding IPI 20178365
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 Model Products

  • Taconic Biosciences Mouse Models for CROT

Inhibitory RNA Products

Flow Cytometry Products

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
mitochondrion 3
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for CROT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005777 peroxisome NAS 10486279
GO:0005782 peroxisomal matrix 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.

Interacting Proteins for CROT Gene

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:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IMP 21619872
GO:0006635 fatty acid beta-oxidation IEA,IDA 21619872
GO:0006810 transport IEA --
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 Pharma Target 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
Caprylic acid Experimental Pharma 0
decanoic acid Experimental Pharma Full agonist, Agonist 139

(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-Hexanoate
  • 1-Hexanoic acid
  • 1-Pentanecarboxylate
  • 1-Pentanecarboxylic acid
  • Butylacetate
142-62-1
Ceramide (d18:1/20:0)
  • (2S,3R,4E)-2-acylamino-1,3-octadec-4-enediol
  • (2S,3R,4E)-2-acylaminooctadec-4-ene-1,3-diol
  • Cer
  • Ceramide
  • N-Acylsphingosine
104404-17-3
L-Octanoylcarnitine
  • (-)-Octanoylcarnitine
  • L-Carnitine octanoyl ester
  • L-O-Octanoylcarnitine
  • L-Octanoylcarnitine
  • Octanoic acid ester with L-(3-carboxy-2-hydroxypropyl)trimethylammonium hydroxide inner salt
25243-95-2
genes like me logo Genes that share compounds with CROT: view

Transcripts for CROT Gene

Unigene Clusters for CROT Gene

Carnitine O-octanoyltransferase:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for CROT Gene

GeneLoc Exon Structure for
CROT
ECgene alternative splicing isoforms 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



NURSA nuclear receptor signaling pathways regulating expression of CROT Gene:

CROT

SOURCE GeneReport for Unigene cluster for CROT Gene:

Hs.125039
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 and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.74 (n)
dog
(Canis familiaris)
Mammalia CROT 34 35
  • 87.8 (n)
cow
(Bos Taurus)
Mammalia CROT 34 35
  • 87.47 (n)
mouse
(Mus musculus)
Mammalia Crot 34 16 35
  • 85.29 (n)
rat
(Rattus norvegicus)
Mammalia Crot 34
  • 83.66 (n)
oppossum
(Monodelphis domestica)
Mammalia CROT 35
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CROT 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves CROT 34 35
  • 69.83 (n)
lizard
(Anolis carolinensis)
Reptilia CROT 35
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia crot 34
  • 67.58 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15914 34
zebrafish
(Danio rerio)
Actinopterygii crot 34 35
  • 63.18 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7341 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002329 34
  • 45.43 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG12428 36 34 35
  • 42.79 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_T20B3.1 34
  • 45.18 (n)
T20B3.1 36 35
  • 32 (a)
F41E7.6 36 35
  • 31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 44 (a)
OneToOne
Species where no ortholog for CROT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for CROT Gene

Paralogs for CROT Gene

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

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

Variants for CROT Gene

Sequence variations from dbSNP and Humsavar for CROT Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs10235461 -- 87,350,992(+) gtggc(C/G/T)ggtgt intron-variant
rs10236924 -- 87,355,349(+) CCTGC(C/T)TTGGC intron-variant
rs10247098 -- 87,368,378(+) GATGA(A/C)AGCAA intron-variant
rs10249416 -- 87,381,213(+) TCACA(A/G)GGAAC intron-variant
rs10259810 -- 87,365,710(+) tctaa(C/T)agtcc intron-variant

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

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

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)

Relevant External Links for CROT Gene

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

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

Disorders for CROT Gene

MalaCards: The human disease database

(1) MalaCards diseases for CROT Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
refsum disease
  • heredopathia atactica polyneuritiformis
- elite association - COSMIC cancer census association via MalaCards
Search CROT in MalaCards View complete list of genes associated with diseases

Relevant External Links for CROT

Genetic Association Database (GAD)
CROT
Human Genome Epidemiology (HuGE) Navigator
CROT
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CROT
genes like me logo Genes that share disorders with CROT: view

No data available for 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 R.J.A. (Biochem. Biophys. Res. Commun. 1999) 2 3 4 22 64
  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. (J. Biol. Chem. 2002) 3 4 22 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for CROT Gene

Sources for CROT Gene

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