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FLASH GENE

Symbol

ACAT1

contributors: mct - updated : 01-09-2010

HGNC name	acetyl-Coenzyme A acetyltransferase 1 (acetoacetyl Coenzyme A thiolase)
HGNC id	93

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ACAT1D alpha-methylacetoacetic aciduria 1
Location	11q22.3      Physical location : 107.992.257 - 108.018.889
Synonym name	mitochondrial acetoacetyl coenzyme A thiolase
	acetyl-Coenzyme A acetyltransferase 1
	T2 enzyme
Synonym symbol(s)	ACAT, D11S2051, MAT, THIL, T2
EC.number	2.3.1.9

DNA

TYPE	functioning gene
STRUCTURE	26.63 kb     12 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000019 12 - 2149 NP_000010 - 427 - -

EXPRESSION

Type

constitutive of

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 Cardiovascular heart       moderately Digestive intestine large intestine colon   moderately   liver       lowly   mouth       moderately Endocrine adrenal gland       moderately Reproductive female system breast mammary gland   moderately Respiratory respiratory tract larynx     highly Urinary kidney       lowly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     highly Epithelial secretory glandular endocrine   Muscular striatum skeletal   highly

cells

System Cell Pubmed Species Stage Rna symbol Digestive hepatocyte

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	hepatocytes

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two conserved cysteine residues in N and C terminal region, importante for tiolase activity
	C-terminal end is the putative active site domain due to its high degree of sequence conservation from yeast to humans

mono polymer

homomer , tetramer

isoforms

Precursor

HOMOLOGY

interspecies	homolog to rattus Acat1 (84.20 pc)
	homolog to murine Acat1 (84.20 pc)

Homologene

FAMILY

thiolase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria

basic FUNCTION	acetoacetyl-CoA thiolase 1, branched chain, isoleucine catabolism, fatty acid beta-oxidation
	catalyzes the synthesis of cholesteryl esters from cholesterol and long-chain fatty acids

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

aminoacid , lipid/lipoprotein

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ACAT1D

related resource

MITOP database

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS