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FLASH GENE

Symbol

CRAT

contributors: mct - updated : 14-03-2018

HGNC name	carnitine acetyltransferase
HGNC id	2342

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 3 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) NM_000755 14 splicing 2768 NP_000746 70 626 . mitochondrial transcript variant 2003 12562770 containing a mitochondrial leader peptide NM_001257363 15 - 2865 NP_001244292 - 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 NM_001346546 15 - 2964 NP_001333475 - 627 - 2003 12562770 NM_001346547 14 - 2717 NP_001333476 - 602 - 2003 12562770 NM_001346548 15 - 2816 NP_001333477 - 581 - 2003 12562770 NM_001346549 14 - 2669 NP_001333478 - 586 - 2003 12562770

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver       moderately   salivary gland       predominantly   stomach       moderately Reproductive female system breast mammary gland   moderately Skin/Tegument skin       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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