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FLASH GENE
Symbol CRAT contributors: mct - updated : 14-03-2018
HGNC name carnitine acetyltransferase
HGNC id 2342
Corresponding disease
CRATD carnitine acetyltransferase deficiency
Location 9q34.11      Physical location : 131.857.074 - 131.873.070
Synonym name
  • carnitine acetylase 1
  • Synonym symbol(s) CAT1, CAT
    EC.number 2.3.1.7
    DNA
    TYPE fragile site
    STRUCTURE 15.99 kb     16 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOC392394 9 similar to hypothetical protein ODF2 9q34 outer dense fiber of sperm tails 2 GLE1L 9q34.13 GLE1 RNA export mediator-like (yeast) SPTAN1 9q34.13 spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) MGC20486 9q34.13 hypothetical protein MGC20486 SET 9q34 SET translocation (myeloid leukemia-associated) pknbeta 9q34.13 protein kinase PKNbeta ZDHHC12 9q34.2 zinc finger, DHHC domain containing 12 C9orf60 9q34.13 chromosome 9 open reading frame 60 TBC1D13 9q34.13 TBC1 domain family, member 13 ENDOG 9q34.1 endonuclease G HSPC109 9q34.13 hypothetical protein HSPC109 CCBL1 9q34.1 cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase) LRRC8 9q34.2 leucine rich repeat containing 8 PHYHD1 9q34.13 phytanoyl-CoA dioxygenase domain containing 1 TMEM15 9q34.13 transmembrane protein 15 KIAA0169 9q34.13 transmembrane protein 15 SH3GLB2 9q34 SH3-domain GRB2-like endophilin B2 C9orf54 9q34.13 chromosome 9 open reading frame 54 DOLPP1 9q34.1 chromosome 9 open reading frame 54 CRAT 9q34.1 carnitine acetyltransferase PPP2R4 9q34.1 protein phosphatase 2A, regulatory subunit B' (PR 53) LOC389792 9 similar to RIKEN cDNA 2610524G09 LOC389793 9 LOC389793 LOC389794 9 LOC389794 LOC375759 9q34.2 hypothetical protein LOC375759 AD-003 9q34.2 AD-003 protein ASB6 9q34.13 ankyrin repeat and SOCS box-containing 6 PRRX2 9q34.1 paired related homeobox 2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 splicing 2558 - 544 - 2003 12562770
  • lacking a segment in the coding region compared to variant 1
  • an 11 aa transit peptide (1.2 kda)
  • a 533 aa mature peptide (60.9 kda)
  • 14 splicing 2768 70 626 . mitochondrial transcript variant 2003 12562770
  • containing a mitochondrial leader peptide
  • 15 - 2865 - 605 peroxisomal transcript variant 2003 12562770
  • including an unique 5' sequence compared to variant 1 . the translation begins at a downstream in-frame start codon
  • 15 - 2964 - 627 - 2003 12562770
    14 - 2717 - 602 - 2003 12562770
    15 - 2816 - 581 - 2003 12562770
    14 - 2669 - 586 - 2003 12562770
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   moderately
     salivary gland   predominantly
     stomach   moderately
    Reproductivefemale systembreastmammary gland moderately
    Skin/Tegumentskin   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • several potential MYOD binding sites
  • potential binding sites for members of HNF family
  • peroxisomal targeting signal
  • microbody targeting signal
  • mono polymer monomer
    HOMOLOGY
    interspecies homolog to murine Crat (90.4 pc)
    homolog to rattus Crat (90.7 pc)
    Homologene
    FAMILY
  • carnitine/choline acetyltransferase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,peroxisome
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text
  • matrix side of the mitochondrial inner membrane
  • basic FUNCTION
  • playing a role in the transesterification of short chain fatty acyl-CoA chains (C2-C4)
  • catalyzing the reversible transfer of acyl groups from an acyl-CoA thioester to carnitine
  • involved as well in the transport of acetyl-CoA into mitochondria
  • acting as a regulator of the ratio of acetyl-CoA/CoA in the subcellular compartments
  • its overexpression in primary skeletal myocytes increased glucose uptake and attenuated lipid-induced suppression of glucose oxidation, implicating carnitine insufficiency and reduced CRAT activity as reversible components of the metabolic syndrome
  • essential role for the mitochondrial matrix enzyme, carnitine acetyltransferase (CRAT), in regulating substrate switching and glucose tolerance
  • role of carnitine acetyl transferase in regulation of nitric oxide signaling in pulmonary arterial endothelial cells
  • catalyze the reversible conversion of acyl-CoAs into acylcarnitine esters
  • converts short- and medium-chain acyl-CoAs (C2 to C10-CoA), whereas no activity was observed with long-chain species
  • is a mitochondrial matrix enzyme that catalyzes the interconversion of acetyl-CoA and acetylcarnitine.
  • unlike muscle cells, substrate switch mechanisms that control macrophage energy metabolism and mitochondrial short-chain acyl-CoA pools during nutrient stress are controlled by pathways that are not solely reliant on CRAT
  • plays a crucial role in the transport of fatty acids for beta-oxidation
  • modulates mitochondrial acetyl-CoA/CoA (coenzyme A) ratios, thus regulating pyruvate dehydrogenase activity and glucose oxidation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism energetic , lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule other,
  • coenzyme A
  • protein
  • lipid-induced antagonism of CRAT might contribute to decreased PDP1 activity and glucose disposal in the context of obesity and diabetes
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CRATD
    related resource MITOP database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    decreased function in the brain of Alzeihmer patients
    constitutional        
    gene silencing disrupted mitochondrial bioenergetics resulting in reduced ATP generation and decreased NO signaling
    constitutional       loss of function
    has previously been shown to result in muscle insulin resistance due to accumulation of long-chain acylcarnitines
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS