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FLASH GENE

Symbol

GGT1

contributors: npt - updated : 24-08-2007

HGNC name	gamma-glutamyltransferase 1
HGNC id	4250

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	GGT1 glutathionuria
Location	22q11.23      Physical location : 24.979.717 - 25.024.972
Synonym name	glutamyl transpeptidase
	gamma-glutamyl transpeptidase
	CD224 antigen
Synonym symbol(s)	GGT, GTG, D22S672, D22S732, CD224, MGC96904, MGC96963, MGC96892
EC.number	2.3.2.2

DNA

TYPE	functioning gene
STRUCTURE	45.26 kb     16 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Binding site
text structure	binding sites for AP1, AP2, CREB, GRE, SP1

MAPPING

cloned

Y

linked

N

status

confirmed

Map

see GGT@

RNA

TRANSCRIPTS	type	messenger

text	all transcripts encode the same protein

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005265 - splicing 2431 NP_005256 61.4 569 - Bulle (1987), Han (2007) also called variant 1 five exons in the 5' UTR NM_013430 - splicing 2381 NP_038347 61.4 569 placenta Bulle (1987), Han (2007) also called variant 3 six exons in the 5'UTR NM_001032364 - splicing 2376 NP_001027536 61.4 569 - Bulle (1987), Han (2007) also called variant 4 seven exons in the 5'UTR NM_001032365 - - 2393 NP_001027537 - 569 - Han (2007) also called variant 5

EXPRESSION

Type	restricted

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 Digestive intestine large intestine colon sigmoid   Respiratory lung         Skin/Tegument skin         Visual eye

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

precursor cleaved, a heavy and a light chain (351 and 189AA)

isoforms

Precursor

HOMOLOGY

interspecies

homolog to murine Ggtp

intraspecies

homolog to GGT2

Homologene

FAMILY

gamma-glutamyltransferase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	plasma membrane
text	type 2 membrane protein

basic FUNCTION

transfer of the glutamyl moiety of glutamine to a variety of AAs and adipocytes acceptors

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

aminoacid

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

GGT1

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS