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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

GGT1 Gene

protein-coding GIFtS: 69
GCID: GC22P024980

gamma-glutamyltransferase 1

(Previous symbol: GGT)

Explore 213 diseases affiliated with
GGT1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Gamma-Glutamyltransferase 1¹ ² ³		EC 2.3.2.2³ ⁸
GGT¹ ² ³ ⁵		GTG²
CD224¹ ²		Gamma-Glutamyl Transpeptidase²
D22S672¹ ²		Gamma-Glutamyltranspeptidase 1²
D22S732¹ ²		Glutamyl Transpeptidase²
Glutathione Hydrolase 1² ³		EC 3.4.19.13³
Leukotriene-C4 Hydrolase² ³		EC 3.4.19.14³
GGT 1² ³		CD224 Antigen³

External Ids:	HGNC: 4250¹	Entrez Gene: 2678²	Ensembl: ENSG00000100031⁷	OMIM: 612346⁵	UniProtKB: P19440³

Export aliases for GGT1 gene to outside databases

Previous GC identifers: GC22P021675 GC22M021675 GC22P023304 GC22P007929

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GGT1:

The enzyme encoded by this gene catalyzes the transfer of the glutamyl moiety of glutathione to a variety of amino

acids and dipeptide acceptors. The enzyme is composed of a heavy chain and a light chain, which are derived from a

single precursor protein, and is present in tissues involved in absorption and secretion. This enzyme is a member of

the gamma-glutamyltransferase protein family, of which many members have not yet been fully characterized and some of

which may represent pseudogenes. This gene is classified as type I gamma-glutamyltransferase. Multiple alternatively

spliced variants, encoding the same protein, have been identified. (provided by RefSeq, Oct 2008)

UniProtKB/Swiss-Prot: GGT1_HUMAN, P19440

Function: Initiates extracellular glutathione (GSH) breakdown, provides cells with a local cysteine supply and

contributes to maintain intracellular GSH level. It is part of the cell antioxidant defense mechanism. Catalyzes the

transfer of the glutamyl moiety of glutathione to amino acids and dipeptide acceptors. Alternatively, glutathione can

be hydrolyzed to give Cys-Gly and gamma glutamate. Isoform 3 seems to be inactive

Gene Wiki entry for GGT1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000022.10 NC_018933.1 NT_011520.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the GGT1 gene promoter:
YY1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): GGT1 promoter sequence

Search SABiosciences Chromatin IP Primers for GGT1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GGT1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q11.23 Ensembl cytogenetic band: 22q11.23 HGNC cytogenetic band: 22q11.23

GGT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GGT1 gene location

GeneLoc information about chromosome 22 GeneLoc Exon Structure

GeneLoc location for GC22P024980: view genomic region (about GC identifiers)

Start:	24,979,718 bp from pter	End:	25,024,972 bp from pter
Size:	45,255 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: GGT1_HUMAN, P19440 (See protein sequence)

Recommended Name: Gamma-glutamyltranspeptidase 1 precursor

Size: 569 amino acids; 61410 Da

Subunit: Heterodimer composed of the light and heavy chains. The active site is located in the light chain

Subcellular location: Membrane; Single-pass type II membrane protein

Miscellaneous: Cys-454 was thought to bind the gamma-glutamyl moiety, but mutagenesis of this residue had no effect on

activity

Sequence caution: Sequence=AAA35899.1; Type=Erroneous initiation;

Secondary accessions: Q08247 Q14404 Q8TBS1 Q9UMK1

Alternative promoter usage, Alternative splicing: 3 isoforms: P19440-1 P19440-2 P19440-3 (Produced by alternative promoter usage)

Explore the universe of human proteins at neXtProt for GGT1: NX_P19440

Post-translational modifications:

N-glycosylated on both chains. Contains hexoses, hexosamines and sialic acid residues. Glycosylation profiles tested in

kidney and liver tissues reveal the presence of tissue-specific and site-specific glycan composition, despite the

overlap in composition among the N-glycans. A total of 36 glycan compositions, with 40 unique structures are observed.

Up to 15 different glycans are observed at a single site, with site-specific variation in glycan composition. The

difference in glycosylation profiles in the 2 tissues do not affect the enzyme activity¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P19440

4/15 DME Specific Peptides for GGT1 (P19440) (see all 15)

LCEVFCR

TIYNSTT

PSPANFI

VVQAIVRT

GGT1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_001027536.1 NP_001027537.1 NP_005256.2 NP_038347.2

ENSEMBL proteins:

ENSP00000248923 ENSP00000415129 ENSP00000389935 ENSP00000393537 ENSP00000393135

ENSP00000395271 ENSP00000383232 ENSP00000403826 ENSP00000415553 ENSP00000408151

ENSP00000383231 ENSP00000415024 ENSP00000417044 ENSP00000400621 ENSP00000398589

ENSP00000387796 ENSP00000415068 ENSP00000387499 ENSP00000384381 ENSP00000385445

ENSP00000384820 ENSP00000385016 ENSP00000385001 ENSP00000383233 ENSP00000385975

Reactome Protein details: P19440
Human Recombinant Protein Products:

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	Novus Biologicals GGT1 Proteins Novus Biologicals GGT1 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	TAS	--
GO:0016020	membrane	NAS	--
GO:0016021	integral to membrane	IEA	--
GO:0031362	anchored to external side of plasma membrane	TAS	18357469

GGT1 for ontologies About GeneDecksing

GGT1 Antibody Products:

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Assay Products for GGT1:

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	GenScript Custom Assay Services for GGT1
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	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

GGT1 for domains About GeneDecksing

1 InterPro domain/family:

IPR000101 GGT_peptidase

Graphical View of Domain Structure for InterPro Entry P19440

ProtoNet protein and cluster: P19440

1 Blocks protein family: IPB000101 Gamma-glutamyltranspeptidase

UniProtKB/Swiss-Prot: GGT1_HUMAN, P19440

Similarity: Belongs to the gamma-glutamyltransferase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: GGT1_HUMAN, P19440

Function: Initiates extracellular glutathione (GSH) breakdown, provides cells with a local cysteine supply and

contributes to maintain intracellular GSH level. It is part of the cell antioxidant defense mechanism. Catalyzes the

transfer of the glutamyl moiety of glutathione to amino acids and dipeptide acceptors. Alternatively, glutathione can

be hydrolyzed to give Cys-Gly and gamma glutamate. Isoform 3 seems to be inactive

Catalytic activity: A (5-L-glutamyl)-peptide + an amino acid = a peptide + a 5-L-glutamyl amino acid

Catalytic activity: Glutathione + H(2)O = L-cysteinylglycine + L-glutamate

Catalytic activity: Leukotriene C(4) + H(2)O = leukotriene D(4) + L-glutamate

Genatlas biochemistry entry for GGT1:

gamma-glutamyltransferase 1,expressed in placenta,sigmoid tissues,gamma-glutamyl cycle

Enzyme Numbers (IUBMB): EC 2.3.2.2¹ ² EC 3.4.19.13¹ EC 3.4.19.14¹

miRNA Products:		OriGene 3'-UTR Clone (see all 4): GGT1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GGT1
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GGT1 (see all 7) OriGene shRNA RFP: GGT1 OriGene siRNA: GGT1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GGT1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for GGT1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GGT1 (see all 6) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GGT1 (see all 6) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 4): GGT1 (NM_001032364)
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GGT1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for GGT1
		Search LifeMap BioReagents cell lines for GGT1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GGT1

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003840	gamma-glutamyltransferase activity	TAS	18357469
GO:0005515	protein binding	IPI	15528406
GO:0016787	hydrolase activity	IEA	--

GGT1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for GGT1:

Increased G1 DNA content

Animal Models:
Mouse knock-out Ggt1^tm1Zuk for GGT1
12 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Ggt1):

endocrine/exocrine gland	growth/size	hematopoietic system	homeostasis/metabolism	immune system
integument	limbs/digits/tail	mortality/aging	pigmentation	reproductive system
skeleton	vision/eye

GGT1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Glutathione metabolism

Glutathione metabolism	1.00	glutathione-mediated detoxification I	0.53
Glutathione metabolism	0.92	Glutathione conjugation	0.50
Glutathione metabolism	0.70	Glutathione metabolism	0.44

gamma-glutamyl cycle

	gamma-glutamyl cycle	1.00			Cyanoamino acid metabolism	0.31
	Glutathione synthesis and recycling	0.50			Taurine and hypotaurine metabolism	0.25

Metabolism

	Metabolism	1.00			Metabolism of lipids and lipoproteins	0.34
	Metabolic pathways	0.38

leukotriene biosynthesis

	leukotriene biosynthesis	1.00			Leukotriene modifiers pathway, Pharmacodynamics	0.33
	Synthesis of Leukotrienes (LT) and Eoxins (EX)	0.47

Arachidonic acid metabolism

	Arachidonic acid metabolism	1.00			Eicosanoid Synthesis	0.31
	Arachidonic acid metabolism	0.42

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for GGT1

Glutathione metabolism

1 GeneGo (Thomson Reuters) Pathway for GGT1

Glutathione metabolism

5/6 BioSystems Pathways for GGT1 (see all 6)

	Eicosanoid Synthesis
	leukotriene biosynthesis
	Selenium Pathway
	glutathione-mediated detoxification I
	Glutathione metabolism

5/8 Reactome Pathways for GGT1 (see all 8)

	Glutathione synthesis and recycling
	Synthesis of Leukotrienes (LT) and Eoxins (EX)
	Metabolism
	Biological oxidations
	Arachidonic acid metabolism

2 PharmGKB Pathways for GGT1

	Busulfan Pathway, Pharmacodynamics
	Leukotriene modifiers pathway, Pharmacodynamics

5 Kegg Pathways (Kegg details for GGT1):

	Taurine and hypotaurine metabolism
	Cyanoamino acid metabolism
	Glutathione metabolism
	Arachidonic acid metabolism
	Metabolic pathways

UniProtKB/Swiss-Prot: GGT1_HUMAN, P19440

Pathway: Sulfur metabolism; glutathione metabolism

GGT1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for GGT1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/60 Interacting proteins for GGT1 (P19440^{2, 3} ENSP00000248923⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 60)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NAMPT	P43490²^,³, ENSP00000222553⁴	MINT-6538755 I2D: score=1 STRING: ENSP00000222553
CD53	P19397³, ENSP00000271324⁴	I2D: score=1 STRING: ENSP00000271324
KCNMA1	Q12791³, ENSP00000286627⁴	I2D: score=1 STRING: ENSP00000286627
ECSIT	Q9BQ95³	I2D: score=2
KPNA4	O00629³	I2D: score=2

About this table

Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002682	regulation of immune system process	ISS	--
GO:0006520	cellular amino acid metabolic process	TAS	2904146
GO:0006749	glutathione metabolic process	TAS	18357469
GO:0006750	glutathione biosynthetic process	TAS	--
GO:0006805	xenobiotic metabolic process	TAS	--

GGT1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

GGT1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for GGT1

10/15 HMDB Compounds for GGT1 (see all 15) About this table

Compound	Synonyms	CAS #	PubMed Ids
Leukotriene F4	LTF4 (see all 3)	--	3001504
5-L-Glutamyl-taurine	5-Glutamyl-taurine	--	--
Carbon dioxide	Carbon oxide (see all 5)	124-38-9	--
Cysteinylglycine	L-Cysteinylglycine (see all 5)	19246-18-5	--
Famotidine	Amfamox (see all 83)	76824-35-6	--
Gamma-Glutamyl-Se-methylselenocysteine		--	--
Glutathione	5-L-Glutamyl-L-cysteinylglycine (see all 32)	70-18-8	--
L-Glutamic acid	(2S)-2-Aminopentanedioate (see all 49)	56-86-0	--
Leukotriene C4	(R-(R,S-(E,E,Z,Z)))-N-(S-(1-(4-carboxy-1-hydroxybutyl)-2,4,6,9-pentadecatetraenyl)-N-L-gamma-glutamyl-L-cysteinyl)-Glycine (see all 12)	72025-60-6	--
Leukotriene C5	LTC(,5)	75207-09-9	--

1 DrugBank Compound for GGT1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Glutathione	5-L-Glutamyl-L-cysteinylglycine (see all 5)	70-18-8	target	--	17316176 17291629 17644279 17569287 17545509

10/136 Novoseek chemical compound relationships for GGT1 gene (see all 136) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
aspartate	87.8	476	8000794 (3), 17353691 (3), 15983331 (2), 17379020 (2) (see all 99)
alanine	87.4	533	17353691 (3), 9695739 (2), 15983331 (2), 19593250 (2) (see all 99)
acivicin	83.1	37	11478776 (3), 7892271 (2), 11384154 (2), 10678765 (2) (see all 23)
ursodeoxycholic acid	80	42	8808432 (3), 14535985 (3), 7712308 (2), 19522030 (2) (see all 25)
cysteinylglycine	78.5	27	18202323 (3), 15998246 (3), 12906924 (2), 18594967 (2) (see all 14)
serine-borate	75.8	4	9882013 (1), 9192821 (1), 1350117 (1), 8674510 (1)
uric acid	68.7	108	16312915 (4), 18499396 (3), 17027827 (2), 16328014 (2) (see all 79)
cholesterol	64.1	265	1346382 (3), 8097894 (3), 16328014 (3), 18371999 (3) (see all 99)
creatinine	61.9	196	18421185 (3), 1977540 (3), 17119530 (3), 18354148 (2) (see all 99)
nash	60	6	17059735 (2), 16385229 (1), 17436095 (1), 8675165 (1) (see all 5)

Search CenterWatch for drugs/clinical trials and news about GGT1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for GGT1 gene (4 alternative transcripts):

NM_001032364.2 NM_001032365.2 NM_005265.2 NM_013430.2

Unigene Cluster for GGT1:

Gamma-glutamyltransferase 1

Hs.645535 [show with all ESTs]

Unigene Representative Sequence: AL832738

18/29 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 29):

ENST00000248923(uc003aan.1) ENST00000456869 ENST00000411974 ENST00000412658

ENST00000445029 ENST00000419133 ENST00000400382(uc003aas.1 uc003aat.1 uc003aau.2 uc003aav.2)

ENST00000438643 ENST00000452551 ENST00000412898 ENST00000400380(uc003aaw.2)

ENST00000455483 ENST00000430289 ENST00000447416 ENST00000432867 ENST00000451366

ENST00000428855 ENST00000425895

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		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GGT1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GGT1 (see all 6) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GGT1 (see all 6) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 4): GGT1 (NM_001032364)
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		SABiosciences RT² qPCR Primer Assay in human, mouse, rat GGT1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GGT1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GGT1

Additional cDNA sequence:

AK022307.1 AL832738.1 BC025927.1 BC035341.1 BC065921.1 BC069326.1 BC069473.1 BC069504.1

BC128234.1 BC128238.1 BC128239.1 CR456494.1 DQ000492.2 J04131.1 L20490.1 L20493.1

L20494.1 M24087.1 M24903.1 X60069.1

22 DOTS entries:

DT.87016250 DT.100843149 DT.102839611 DT.120642722 DT.100016221 DT.91757197 DT.100669181 DT.91757198

DT.100669183 DT.120642791 DT.97855841 DT.120642658 DT.91720315 DT.100733773 DT.120642749 DT.120642831

DT.120642907 DT.100034647 DT.120642656 DT.120642774 DT.120642906 DT.120668227

24/367 AceView cDNA sequences (see all 367):

CR600958 BU164348 BC065921 BU626240 AU077341 BG944859 BQ064444 BE295476

BQ649885 NM_004175 AI418256 BG577265 BE560199 BM983367 W23739 CR456583

L20494 AA310856 BF219926 BM551957 CR456494 BE266867 BM263989 AI929243

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for GGT1 About this scheme

ExUns:	1	^	2a	·	2b	^	3	^	4	^	5a	·	5b
SP1:			-		-
SP2:
SP3:									-

ECgene alternative splicing isoforms for GGT1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

GGT1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTGGGCCAGG

About this image

GGT1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Bone

Bone Marrow

Hematopoietic Stem Cells

Blood

Kidney

Metanephros

Kidney

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See GGT1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for GGT1

SOURCE GeneReport for Unigene cluster: Hs.645535

UniProtKB/Swiss-Prot: GGT1_HUMAN, P19440

Tissue specificity: Detected in fetal and adult kidney and liver, adult pancreas, stomach, intestine, placenta and

lung. Isoform 3 is lung-specific. There are several other tissue-specific forms that arise from alternative promoter

usage but that produce the same protein

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for GGT1 gene from 9/31 species (see all 31) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	GGT1¹	gamma-glutamyltransferase 1	65.9(n) 67.08(a)		416945 XM_415238.3 XP_415238.2
lizard (Anolis carolinensis)	Reptilia	--	--	63(a)	1 → many	GL343947.1(88394-92709)
zebrafish (Danio rerio)	Actinopterygii	zgc64172²	hypothetical protein MGC64172	73.95(n)		393387 BC054631.1
fruit fly (Drosophila melanogaster)	Insecta	CG6461³ CG4829¹	gamma-glutamyl transferase³ CG4829¹	45(a) (best of 4)³ 51.38(n)¹ 41.89(a)¹		17C1³ 32672¹ NM_167550.1¹ NP_728030.2¹
worm (Caenorhabditis elegans)	Secernentea	C53D5.5^{1 , 3}	gamma-glutamyltranspeptidase³ Protein C53D5.5¹	41(a) (best of 3)³ 48.58(n)¹ 43.26(a)¹		I(305901-310788)³ 171619¹ NM_058313.4¹ NP_490714.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	ECM38(YLR299W)⁴ ECM38¹	Gamma-glutamyltranspeptidase, major glutathione-degrading more⁴ Ecm38p¹	42.78(n)¹ 33.91(a)¹		12(726069-728051)⁴ 851006^{1, 4} NP_013402.1^{1, 4}
thale cress (Arabidopsis thaliana)	eudicotyledons	GGT1¹	gamma-glutamyl transpeptidase 1	45.87(n) 41.77(a)		830118 NM_120124.5 NP_195674.2
rice (Oryza sativa)	Liliopsida	-- -- (see all 3)	gamma-glutamyltranspeptidase 1 precursor, putative... gamma-glutamyltranspeptidase 1 precursor, putative... (see all 3)	37(a) 35(a) (see all 3)	many ↔ many many ↔ many (see all 3)	4(22670244-22675891) 1(2775973-2780775)
E. coli (Escherichia coli)	Gamma proteobacteria	ggt⁶	gamma-glutamyltranspeptidase	28(a)	possible ortholog	Chromosome(3583104-3584846)

ENSEMBL Gene Tree for GGT1 (if available)
TreeFam Gene Tree for GGT1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for GGT1 gene

GGT6² GGTLC1² GGT5² GGT7² GGTLC2² GGT2² GGTLC3²

9 SIMAP similar genes for GGT1 using alignment to 20 protein entries: GGT1_HUMAN (see all proteins):

GGT GGT3P GGTLC1 GGT2 GGTLC3 GGTLC2

GGTLA4 GGT7 GGT5

GGT1 for paralogs About GeneDecksing

5 Pseudogenes.org Pseudogenes for GGT1
PGOHUM00000246220 PGOHUM00000246221 PGOHUM00000246287 PGOHUM00000246410 PGOHUM00000246411

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 22 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs201313233^1,2	C,F	other	25023893(+)	`TCCCAG/ACATCA`	8	/N /S	mis¹		1		EU	889
rs9612666^1,2		--	7951577(+)	`tatatA/C/Tatata`	1	--	int¹		1		CSA	1
rs4049925^1,2		--	7951611(+)	`tatatA/C/TataTA`	1	--	int¹		0	--	--	--	--
rs12160828^1,2		--	7962299(-)	`ggtggC/Tgggcg`	1	--	int¹		0	--	--	--	--
rs380131^1,2	C	--	7963335(-)	`CTGCTC/TGAAGA`	1	--	int¹		0	--	--	--	--
rs4049870^1,2	C,	--	7964420(+)	`TCTCGC/AAAGAG`	1	--	int¹		2		NA CSA	3
rs4049851^1,2		--	7964430(+)	`GCAGGG/AGAGTC`	1	--	int¹		1		CSA	1
rs11913428^1,2	C,H,	--	7965140(+)	`ctgcaA/C/Ttccag`	1	--	int¹		1		NA	2
rs3865659^1,2	C	--	7965286(+)	`AAAAGA/GGGCAG`	1	--	int¹ trp³		0	--	--	--	--
rs3984370^1,2		--	7965350(-)	`CCACCC/TTGACC`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for GGT1 (24979718 - 25024972 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 16 variations for GGT1
13 CNVs: 73801 90990 31081 79526 90994 90991 73802 90993 90992 79523 90995 32456 103142
3 Indels: 79525 27027 79524

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

GGT1 for disorders About GeneDecksing

OMIM gene information: 612346 OMIM disorders: --

UniProtKB/Swiss-Prot: GGT1_HUMAN, P19440

Defects in GGT1 are a cause of glutathionuria (GLUTH) [MIM:231950]; also known as gamma-glutamyltranspeptidase

deficiency. It is an autosomal recessive disease

20/213 diseases for GGT1 (see all 213): About MalaCards

glutathione synthetase deficiency recessive dystrophic epidermolysis bullosa biliary atresia extrahepatic protein-energy malnutrition

21-hydroxylase deficiency porphyria cutanea tarda osteogenesis imperfecta type i osteogenesis imperfecta

biliary atresia end stage renal failure hypersensitivity reaction type ii disease nodular regenerative hyperplasia

epidermolysis bullosa factor vii deficiency retinol binding protein creatine phosphokinase

maturity-onset diabetes of the young iron overload microscopic polyangiitis graft versus host disease

9 diseases from the University of Copenhagen DISEASES database for GGT1:

Liver disease Substance abuse Cholestasis Fatty liver disease

Alcohol dependence Hepatitis C Diabetes mellitus Hepatitis B

Hepatocellular carcinoma

10/96 Novoseek disease relationships for GGT1 gene (see all 96) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
liver diseases	81.4	106	20397813 (4), 1972004 (2), 19100265 (2), 17379020 (2) (see all 74)
cholestasis	79.8	50	10777184 (4), 9794902 (2), 11853185 (2), 1673269 (1) (see all 39)
fatty liver	79.7	70	15052692 (4), 16203871 (2), 19709695 (2), 16108838 (2) (see all 46)
cholestasis intrahepatic	73.8	17	19261551 (2), 9794902 (1), 1352544 (1), 20232290 (1) (see all 15)
liver damage	72.1	26	18354148 (2), 9468250 (2), 7903815 (1), 7913793 (1) (see all 23)
biliary cirrhosis primary	69.6	5	15054524 (1), 7723166 (1), 10601067 (1), 12239904 (1) (see all 5)
liver fibrosis	69.1	19	12433643 (2), 1632855 (1), 12546736 (1), 19950810 (1) (see all 17)
alcohol abuse	68.3	40	18337017 (4), 15365303 (4), 7645101 (1), 9547899 (1) (see all 29)
liver dysfunction	68.2	14	15983331 (1), 1362364 (1), 8199687 (1), 15780761 (1) (see all 14)
hepatitis c chronic	68.2	11	10934805 (3), 14748879 (1), 17845689 (1), 16082285 (1) (see all 8)

Human Genome Epidemiology (HuGE) Navigator: GGT1 (8 documents)

Export disorders for GGT1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for GGT1 gene, integrated from 9 sources (see all 1500):
(articles sorted by number of sources associating them with GGT1)

Utopia: connect your pdf to the dynamic
world of online information

Involvement of Ser-451 and Ser-452 in the catalysis of human gamma- glutamyl transpeptidase. (PubMed id 7673200)^{1, 2, 9} Ikeda Y.... Meister A. (1995)
Gamma-glutamyl transpeptidase gene organization and expression: a comparative analysis in rat, mouse, pig and human species. (PubMed id 10392451)^{1, 2, 9} Chikhi N.... Laperche Y. (1999)
Human gamma-glutamyl transpeptidase mutants involving conserved aspartate residues and the unique cysteine residue of the light subunit. (PubMed id 7759490)^{1, 2, 9} Ikeda Y.... Meister A. (1995)
The human gamma-glutamyltransferase gene family. (PubMed id 18357469)^{1, 3} Heisterkamp N.... Sneddon T.P. (2008)
A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)^{1, 2} Collins J.E.... Dunham I. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
A proteomic analysis of human bile. (PubMed id 15084671)^{1, 2} Kristiansen T.Z.... Pandey A. (2004)
The DNA sequence of human chromosome 22. (PubMed id 10591208)^{1, 2} Dunham I....O'Brien K.P. (1999)
Effects of substitutions of the conserved histidine residues in human gamma-glutamyl transpeptidase. (PubMed id 8827453)^{1, 2} Ikeda Y.... Taniguchi N. (1996)
Human lung expresses unique gamma-glutamyl transpeptidase transcripts. (PubMed id 7689219)^{1, 2} Wetmore L.A.... Drazen J.M. (1993)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 2678	HGNC: 4250	AceView: SNRPD3andGGT1	Ensembl:ENSG00000100031	euGenes: HUgn2678
ECgene: GGT1	Kegg: 2678	H-InvDB: GGT1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for GGT1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for GGT1	Genetics and Cytogenetics in Oncology and Haematology
Wikipedia	http://en.wikipedia.org/wiki/Gamma_glutamyl_transpeptidase

Intellectual Property for GGT1 gene
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Patent Information for GGT1 gene:
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GeneCards and IP:
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Fatty Liver
alcohol intoxication
Microalbuminuria
hepatitis G
HEPATITIS CHOLESTATIC
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BYLER DISEASE
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GGT1 Gene

gamma-glutamyltransferase 1

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