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FLASH GENE

Symbol

HMGCS1

contributors: mct - updated : 21/11/2008

HGNC name	3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble)
HGNC id	5007

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	5p12      Physical location : 43.289.493 - 43.313.595
Synonym name	HMG-CoA synthase
Synonym symbol(s)	HMGCS, MGC90332
EC.number	2.3.3.10, 4.1.3.5

DNA

TYPE	functioning gene
STRUCTURE	24.10 kb     11 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 1 11 splicing 3510 57.2 520 - - variant 2 10 splicing 3451 57.2 520 - -

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   mouth       predominantly Hearing/Equilibrium ear       moderately Nervous brain       moderately   nerve       highly Respiratory respiratory tract trachea     highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies	homolog to dog HMGCS1 (96.4 pc)
	homolog to rattus Hmgcs1 (94.8 pc)

Homologene

FAMILY

HMG-CoA synthase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION	condensing acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is the substrate for HMG-CoA reductase
	catalyzes the condensation of acetyl-CoA and acetoacetyl-CoA into 3-hydroxy-3-methylglutaryl CoA
	participates in the mevalonate pathway but its end product is cholesterol

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

lipid/lipoprotein

signaling

	cholesterol biosynthetic process
	isoprenoid biosynthetic process

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

ANIMAL & CELL MODELS