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FLASH GENE

Symbol

GATM

contributors: mct - updated : 29-05-2013

HGNC name	glycine amidinotransferase (L-arginine:glycine amidinotransferase)
HGNC id	4175

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	GATM mental retardation and severe language delay
Location	15q21.1      Physical location : 45.653.323 - 45.670.980
Synonym name	glycine amidinotransferase, mitochondrial
	transamidinase
Synonym symbol(s)	AGAT, AT
EC.number	2.1.4.1

DNA

TYPE	functioning gene
STRUCTURE	17.66 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001482 9 - 2602 NP_001473 48 423 - 2006 16769397 mitochondrial variant 2 - - - isoform 2 - - - 1997 9148748 cytoplasmic

EXPRESSION

Type	ubiquitous

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 ventricle       Digestive liver       highly Endocrine pancreas       highly Urinary bladder       highly   kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Muscular striatum cardiac myocardium

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	placenta, spleen, cochlea

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

secondary structure

five beta-beta-alpha-beta modules

HOMOLOGY

Homologene

FAMILY

amidinotransferase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,inner
	intracellular,cytoplasm,organelle,mitochondria,interspace
	intracellular,cytoplasm,organelle,membrane

basic FUNCTION	first step of the creatine synthesis resulting in the formation of guanidinoacetate
	major part of endogenous synthesis of creatine is thought to occur in kidney, pancreas and liver, the brain widely expresses GATM, GAMT and SLC6A8, both during development and in adulthood

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

energetic

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

GATM

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in all heart failure

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cardiovascular     specific response to heart failure involving elevated local creatine synthesis (implications both for the management of recovery patients undergoing combination therapy and for heart failure in general)

ANIMAL & CELL MODELS

Agat-deficient mice exhibited decreased fat deposition, attenuated gluconeogenesis, reduced cholesterol levels, enhanced glucose tolerance, and reduced muscular nucleoside triphosphate (NTP) concentrations compared with wt mice