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CRAT carnitine O-acetyltransferase [ Homo sapiens (human) ]

Gene ID: 1384, updated on 12-Jan-2019

Summary

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Official Symbol
CRATprovided by HGNC
Official Full Name
carnitine O-acetyltransferaseprovided by HGNC
Primary source
HGNC:HGNC:2342
See related
Ensembl:ENSG00000095321 MIM:600184
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
CAT; CAT1; NBIA8
Summary
This gene encodes carnitine O-acetyltransferase, a member of the carnitine acyltransferase family and a key metabolic pathway enzyme which plays an important role in energy homeostasis and fat metabolism. This enzyme catalyzes the reversible transfer of acyl groups from an acyl-CoA thioester to carnitine and regulates the ratio of acyl-CoA/CoA. It is found in both the mitochondria and the peroxisome. Alternative splicing results in transcript variants encoding different isoforms that may localize to different subcellular compartments. [provided by RefSeq, Oct 2016]
Expression
Broad expression in testis (RPKM 76.6), duodenum (RPKM 25.0) and 23 other tissues See more
Orthologs
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Genomic context

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See CRAT in Genome Data Viewer
Location:
9q34.11
Exon count:
18
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (129094794..129110798, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (131857073..131873070, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene mitoguardin 2 Neighboring gene dolichyldiphosphatase 1 Neighboring gene protein phosphatase 2 phosphatase activator Neighboring gene immediate early response 5 like

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
  • 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. Substrate specificity of human carnitine acetyltransferase: Implications for fatty acid and branched-chain amino acid metabolism. Violante S, et al. Biochim Biophys Acta, 2013 Jun. PMID 23485643
  2. Carnitine, mitochondrial function and therapy. Zammit VA, et al. Adv Drug Deliv Rev, 2009 Nov 30. PMID 19716391
  3. Carnitine insufficiency caused by aging and overnutrition compromises mitochondrial performance and metabolic control. Noland RC, et al. J Biol Chem, 2009 Aug 21. PMID 19553674, Free PMC Article
  4. Structure and function of carnitine acyltransferases. Jogl G, et al. Ann N Y Acad Sci, 2004 Nov. PMID 15591000
  5. A snapshot of carnitine acetyltransferase. Ramsay RR, et al. Trends Biochem Sci, 2003 Jul. PMID 12877997

See all (35) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  1. We provide evidence that the downregulation of hsa-miR-124-3p, hsa-miR-129-5p and hsa-miR-378 induced an increase in both expression and activity of CPT1A, CACT and CrAT in malignant prostate cells.
    Title: Deregulation of MicroRNAs mediated control of carnitine cycle in prostate cancer: molecular basis and pathophysiological consequences.
  2. CrAT turned out to be active towards some but not all the BCAAO intermediates tested and no activity was found with dicarboxylic acyl-CoA esters.
    Title: Substrate specificity of human carnitine acetyltransferase: Implications for fatty acid and branched-chain amino acid metabolism.
  3. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  5. Data show that CrAT overexpression in primary human skeletal myocytes increased glucose uptake and attenuated lipid-induced suppression of glucose oxidation.
    Title: Carnitine insufficiency caused by aging and overnutrition compromises mitochondrial performance and metabolic control.
  6. structure of a binary complex of human peroxisomal carnitine acetyltransferase and the substrate l-carnitine, refined to a resolution of 1.8; site-directed mutagenesis and kinetic characterization
    Title: Structural and mutational characterization of L-carnitine binding to human carnitine acetyltransferase.
  7. The structure and reactions of this enzyme are examined.
    Title: Structure of human carnitine acetyltransferase. Molecular basis for fatty acyl transfer.
  8. the purification, crystallization and preliminary X-ray crystallographic studies of human carnitine acetyltransferase are reported
    Title: Crystallization and preliminary X-ray crystallographic studies on recombinant human carnitine acetyltransferase.
  9. 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

Associated conditions

Description Tests
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8
MedGen: C4693587 OMIM: 617917 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites.
NHGRI GWA Catalog

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 BioSystems

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  • 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...
  • Beta-oxidation of very long chain fatty acids, organism-specific biosystem (from REACTOME)
    Beta-oxidation of very long chain fatty acids, organism-specific biosystemLinear fatty acids containing more than 18 carbons are broken down by beta-oxidation in peroxisomes to yield acetyl-CoA and medium chain-length fatty acyl CoA's such as octanoyl-CoA (Wanders and Wate...
  • Fatty Acid Beta Oxidation, organism-specific biosystem (from WikiPathways)
    Fatty Acid Beta Oxidation, organism-specific biosystemComplete fatty acid beta-oxidation pathway for saturated and unsaturated fatty acids, developed and curated internally by BiGCaT Bioinformatics. This pathway was previously split into three parts p...
  • 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 ...
  • mitochondrial L-carnitine shuttle, organism-specific biosystem (from BIOCYC)
    mitochondrial L-carnitine shuttle, organism-specific biosystemGeneral Background The : FAO-PWY pathway occurs in the mitochondrial matrix and plays an important role in energy production. During fasting, fatty acids are used for hepatic ketone-body synthesis. ...
  • mitochondrial L-carnitine shuttle, conserved biosystem (from BIOCYC)
    mitochondrial L-carnitine shuttle, conserved biosystemGeneral Background The mitochondrial |FRAME: CARNITINE| shuttle pathway is part of the cellular |FRAME: CARNITINE| system that regulates pools of |FRAME: CO-A| derivatives. This system is comprised...

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
carnitine O-acetyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
carnitine O-acetyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
carnitine O-acetyltransferase activity TAS
Traceable Author Statement
more info
  
signaling receptor binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
carnitine metabolic process, CoA-linked IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
carnitine metabolic process, CoA-linked IDA
Inferred from Direct Assay
more info
 PubMed 
fatty acid beta-oxidation using acyl-CoA oxidase TAS
Traceable Author Statement
more info
  
protein targeting to peroxisome TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
  
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
  
mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
  
mitochondrion HDA PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
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 

General protein information

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Preferred Names
carnitine O-acetyltransferase
Names
carnitine acetylase
NP_001244292.1
NP_001333475.1
NP_001333476.1
NP_001333477.1
NP_001333478.1
NP_003994.2
XP_005251765.1
XP_016869764.1
XP_024303182.1

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_000755.5 → NP_000746.3  carnitine O-acetyltransferase isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AL158151
    Consensus CDS
    CCDS6919.1
    Related
    ENSP00000315013.2, ENST00000318080.6
    Conserved Domains (1) summary
    pfam00755
    Location:35 → 611
    Carn_acyltransf; Choline/Carnitine o-acyltransferase

  2. NM_001257363.2 → NP_001244292.1  carnitine O-acetyltransferase isoform 2

    See identical proteins and their annotated locations for NP_001244292.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate exon in the 5' region and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) is shorter at the N-terminus, compared to isoform 1. Variants 2 and 6 encode the same protein.
    Source sequence(s)
    AL158151, BG741927, BI752361, BM553197, CB243402, CF125676, HY328978
    Conserved Domains (1) summary
    pfam00755
    Location:14 → 594
    Carn_acyltransf; Choline/Carnitine o-acyltransferase

  3. NM_001346546.1 → NP_001333475.1  carnitine O-acetyltransferase isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate exon in the 5' region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) is longer and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AL158151, BG741927, BI752361, BM553197, CB243402, CF125676, HY328978

  4. NM_001346547.1 → NP_001333476.1  carnitine O-acetyltransferase isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
    Source sequence(s)
    AL158151, BG741603, BG741927, BI752361, BM553197, CB243402, CF125676, HY328978

  5. NM_001346548.1 → NP_001333477.1  carnitine O-acetyltransferase isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains an alternate exon in the 5' region, initiates translation at a downstream start codon, and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (5) is shorter than isoform 1.
    Source sequence(s)
    AL158151, BG741603, BG741927, BI752361, BM553197, CB243402, CF125676, HY328978

  6. NM_001346549.1 → NP_001333478.1  carnitine O-acetyltransferase isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (6) is shorter than isoform 1.
    Source sequence(s)
    AL158151, BG741927, BI752361, BM553197, CB043845, CB243402, CF125676, HY328978

  7. NM_004003.3 → NP_003994.2  carnitine O-acetyltransferase isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) contains an alternate exon in the 5' region and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) is shorter at the N-terminus, compared to isoform 1. Variants 2 and 6 encode the same protein.
    Source sequence(s)
    AL158151, BG741927, BI752361, BM553197, CB243402, CF125676, HY328978
    Conserved Domains (1) summary
    pfam00755
    Location:14 → 594
    Carn_acyltransf; Choline/Carnitine o-acyltransferase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

    Range
    129094794..129110798 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005251708.4 → XP_005251765.1  carnitine O-acetyltransferase isoform X3

    UniProtKB/Swiss-Prot
    P43155
    Conserved Domains (1) summary
    pfam00755
    Location:14 → 594
    Carn_acyltransf; Choline/Carnitine o-acyltransferase

  2. XM_024447414.1 → XP_024303182.1  carnitine O-acetyltransferase isoform X2

    Conserved Domains (1) summary
    pfam00755
    Location:31 → 607
    Carn_acyltransf; Choline/Carnitine o-acyltransferase

  3. XM_017014275.1 → XP_016869764.1  carnitine O-acetyltransferase isoform X1

    Conserved Domains (1) summary
    pfam00755
    Location:36 → 616
    Carn_acyltransf; Choline/Carnitine o-acyltransferase

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_144782.1: Suppressed sequence

    Description
    NM_144782.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P43155.5 GenPept UniProtKB/Swiss-Prot:P43155

Gene LinkOut

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