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GGT1 Gene

protein-coding GIFtS: 65

GC22P023304

gamma-glutamyltransferase 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: GGT)

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

Aliases
CD224 ^¹, ²
D22S672 ^¹, ²
D22S732 ^¹, ²
EC 2.3.2.2 ^³
GGT ^², ³
GTG ^², ⁵
MGC96892 ^²
MGC96904 ^²
MGC96963 ^²
OTTHUMP00000028921 ^²
OTTHUMP00000159078 ^²

Descriptions
CD224 antigen ^³
GGT 1 ^³
gamma-glutamyl transpeptidase ^²
gamma-glutamyltransferase 1 ^², ³
glutamyl transpeptidase ^²

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

Search outside databases for aliases for GGT1 gene

Previous GC identifers: GC22P021675 GC22M021675

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

EntrezGene 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]

UniProtKB/Swiss-Prot: GGT1_HUMAN, P19440

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

supply and contributes to maintain intracelular 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 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the GGT1 gene

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)

GeneLoc gene densities for chromosome 22 GeneLoc Exon Structure

GeneLoc location for GC22P023304: (about GC identifiers)

Start:	23,309,718 bp from pter
End:	23,354,972 bp from pter
Size:	45,255 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000022.9 NT_011520.11

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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

Secondary accessions: Q08247 Q14404 Q8TBS1 Q9UMK1

Alternative promoter usage, Alternative splicing: 3 isoforms: P19440-1 P19440-2 P19440-3

Post-translational modifications:

N-glycosylated on both chains. Contains hexoses, hexosamines and sialic acid residues. It is not

known if the sialic acid residues are present on N-linked or on O-linked glycans¹

REFSEQ proteins (4 alternative transcripts):

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

ENSEMBL proteins:

ENSP00000383232 ENSP00000383231 ENSP00000384820 ENSP00000385001 ENSP00000385016 ENSP00000385445

ENSP00000384381 ENSP00000248923 ENSP00000383233 ENSP00000385975

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse Abcam for Recombinant Proteins
	Human Recombinant Proteins from Abnova (GGT1)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016020	membrane	NAS	--
GO:0016021	integral to membrane	IEA	--

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Antibodies for GGT1:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for GGT1
	Browse R&D Systems for Antibodies
	Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
	Monoclonal and Polyclonal Antibodies from Abnova (GGT1)
	Novus Biologicals Antibodies for GGT1

Assays for GGT1:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

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

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 MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (GGT1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (GGT1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 5): NM_001032364

Applied Biosystems Silencer® siRNAs for GGT1

Sigma-Aldrich siRNA and siRNA Panels for GGT1

Sigma-Aldrich shRNA for GGT1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for GGT1
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_001032364
Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_001032364
untagged cDNA clones in CMV expression vector (see all 6): NM_001032364

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_001032365

UniProtKB/Swiss-Prot: GGT1_HUMAN, P19440

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

supply and contributes to maintain intracelular 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: (5-L-glutamyl)-peptide + an amino acid = peptide + 5-L-glutamyl amino acid

Enzyme Number (IUBMB): EC 2.3.2.2

Genatlas biochemistry entry for GGT1:

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

10 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Ggt1):

endocrine/exocrine gland	growth/size	homeostasis/metabolism	life span-post-weaning/aging	limbs/digits/tail
pigmentation	reproductive system	skeleton	skin/coat/nails	vision/eye

5 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003674	molecular_function	ND	1968061
GO:0003840	gamma-glutamyltransferase activity	IEA	--
GO:0005515	protein binding	IPI	15528406
GO:0008415	acyltransferase activity	IEA	--
GO:0016740	transferase activity	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

5/6 Sigma-Aldrich "Your Favorite Gene" Pathways for GGT1 (Your Favorite Gene powered by Ingenuity) (see all 6 )

Eicosanoid Signaling
Taurine and Hypotaurine Metabolism
Selenoamino Acid Metabolism
Glutathione Metabolism
Arachidonic Acid Metabolism

GeneDecks GGT1 for the pathways selected above

About GeneDecksing

UniProtKB/Swiss-Prot: GGT1_HUMAN, P19440

Pathway: Sulfur metabolism; glutathione metabolism

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

5/74 Interacting proteins for GGT1 (P19440² ENSP00000248923³) via UniProtKB, MINT, and/or STRING (see all 74 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NAMPT	P43490²	MINT-6538755
ANPEP	ENSP00000300060³	STRING (score=.979)
GSR	ENSP00000221130³	STRING (score=.966)
GSS	ENSP00000216951³	STRING (score=.96)
GCLC	ENSP00000229416³	STRING (score=.959)

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2 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006520	amino acid metabolic process	TAS	2904146
GO:0006750	glutathione biosynthetic process	IEA	--

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for GGT1
10/36 Novoseek chemical compound relationships for GGT1 gene (see all 36 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
cysteinylglycine	78.43	26	18202323 (3), 15998246 (3), 12906924 (2), 18594967 (2) (see all 13)
serine-borate	76.43	4	9882013 (1), 9192821 (1), 1350117 (1), 8674510 (1)
uric acid	67.73	96	16312915 (4), 18499396 (3), 17027827 (2), 16328014 (2) (see all 70)
ethyl glucuronide	63.97	8	19298326 (3), 18503080 (2), 12658113 (1)
cholesterol	62.72	236	1346382 (3), 8097894 (3), 16328014 (3), 18371999 (3) (see all 99)
nash	60.48	5	17059735 (2), 16385229 (1), 17436095 (1), 8675165 (1)
gamma-glutamylcysteine	56.31	16	9829859 (2), 10860939 (1), 15981742 (1), 16082503 (1) (see all 12)
hampshire	53.75	17	8383586 (2), 9119254 (2), 10103015 (1), 9882013 (1) (see all 8)
phosphatidyl ethanol	53.01	14	17407500 (4), 14691072 (2), 16624837 (2), 12658113 (1)
ltd4	52.16	12	1326623 (1), 1416420 (1), 7914721 (1), 12882448 (1) (see all 8)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (GGT1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (GGT1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 5): NM_001032364

Sigma-Aldrich siRNA and siRNA Panels for GGT1

Sigma-Aldrich shRNA for GGT1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001032364 NM_001032365 NM_005265 NM_013430

REFSEQ mRNAs for GGT1 gene (4 alternative transcripts):

NM_001032364.1 NM_001032365.1 NM_005265.2 NM_013430.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001032364 NM_001032365 NM_005265 NM_013430

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_001032364
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_001032364
                                 untagged cDNA clones in CMV expression vector (see all 6): NM_001032364

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

23 DOTS entries:

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

DT.100669183 DT.120642791 DT.91720315 DT.97855841 DT.120642658 DT.120642906 DT.100733773 DT.120642749

DT.120642831 DT.120642907 DT.100034647 DT.120642656 DT.120642774 DT.120668227 DT.400578

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

CR600958 AA310856 BM263989 CR456494 BE560199 L20494 AW612875 L20490

AI050789 BE266867 AU077341 BQ064444 BM668578 BC065921 BE298745 BQ649885

BE295476 BC025927 AI929243 BU857290 AI418256 W23739 CR591143 CR456583

highest scoring ESTs for GGT1:

AI683663 J04131 J05235 L20490 AI305761 AI305952 AI311602 AI311751 AI340524 AI345876

Unigene Cluster for GGT1:

Gamma-glutamyltransferase 1

Hs.645535 [show with all ESTs]

Unigene Representative Sequence: AL832738

GeneLoc Exon Structure

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

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

About this scheme

ECgene alternative splicing isoforms for GGT1

10 Ensembl transcripts including schematic representations:

ENST00000400382 ENST00000400380 ENST00000403838 ENST00000404920 ENST00000404223 ENST00000404532

ENST00000401885 ENST00000248923 ENST00000400383 ENST00000406383

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

GGT1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for GGT1

¹ / ² / ³

16 probe-sets matching GGT1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
41868_at²^{, 3}	U95-A	9	1.00	0.40	0.98	0.96	D87002	0.20	0.04	0.14	1
76993_f_at²^{, 3}	U95-D	5	1.00	0.21	0.95	0.82	AI222095	0.20	0.06	0.15	3
715_s_at²^{, 3}	U95-A	10	1.00	0.11	0.98	1.09	D87002	0.20	0.04	0.14	1
32893_s_at²^{, 3}	U95-A	10	1.00	0.10	0.94	1.15	M30474	0.20	0.02	0.14	3
209919_x_at²^{, 3}	U133-A	10	1.00	0.22	--	--	L20490	0.80	0.83	0.82	1
207131_x_at²^{, 3}	U133-A	10	1.00	0.22	--	--	NM_013430	0.40	0.44	0.42	1
211417_x_at²^{, 3}	U133-A	10	1.00	0.19	--	--	L20493	0.60	0.58	0.59	1
208284_x_at²^{, 3}	U133-A	10	1.00	0.18	--	--	NM_013421	0.40	0.67	0.55	1
215603_x_at²	U133-A	10	0.82	0.09	--	--	--	--	--	--	--
244179_x_at²	U133-B	6	0.36	0.18	--	--	--	--	--	--	--
209919_x_at²	U133Plus2	10	1.00	0.22	--	--	--	--	--	--	--
207131_x_at²	U133Plus2	10	1.00	0.22	--	--	--	--	--	--	--
211417_x_at²	U133Plus2	10	1.00	0.19	--	--	--	--	--	--	--
208284_x_at²	U133Plus2	10	1.00	0.18	--	--	--	--	--	--	--
215603_x_at²	U133Plus2	10	0.82	0.09	--	--	--	--	--	--	--
244179_x_at²	U133Plus2	5	0.36	0.30	--	--	--	--	--	--	--

GeneDecks GGT1 for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: GTGGGCCAGG

SOURCE GeneReport for Unigene cluster: Hs.645535
Expression variation in blood from EXPOLDB for GGT1
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

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for GGT1 gene from 5/18 species (see all 18 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	GGT1¹	--	gamma-glutamyltransferase 1	85.56(n) 83.98(a)	486400 XM_543526.2 XP_543526.2
chimpanzee (Pan troglodytes)	GGT1¹	--	gamma-glutamyltransferase 1	98.83(n) 98.95(a)	470168 XM_001170979.1 XP_001170979.1
cow (Bos taurus)	GGT1¹	--	gamma-glutamyltransferase 1	84.15(n) 83.45(a)	615582 XM_867430.2 XP_872523.2
mouse (Mus musculus)	Ggt1^{1, 5}	10⁵	gamma-glutamyltransferase 1^{1, 5}	80.81(n)¹ 79.05(a)¹	14598¹ NM_008116.2¹ NP_032142.1¹ AI746379⁵ AK079235⁵ (see all 16)
chicken (Gallus gallus)	GGT1¹	--	gamma-glutamyltransferase 1	65.9(n) 67.08(a)	416945 XM_415238.2 XP_415238.2

About this table Species with no ortholog for GGT1

ENSEMBL Gene Tree for GGT1

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

Paralogs for GGT1 gene

ENSG00000216522² GGT5² GGTLC1² GGTLC2² GGT3P² GGTLC3² GGT2²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/461 NCBI SNPs in GGT1 are shown (see all 461 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 34)

AB	SNP ID	Valid	Chr 22 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs2236626^1,2	A,C,F,H,O	23309447(+)	`GAGTAC/TGGCCC`	1	--	ng5¹		13		EA WA NA	2548
	rs2017869^1,2	A,C,F,H,O	23327309(+)	`TGATTC/GCTGGT`	3	--	int¹ ng5¹		7		EU EA WA NA	558
--	rs2073398^1,2	A,C,F,H	23329104(+)	`CGCCCC/GCAGGC`	3	--	ng5¹ int¹		4		EU EA WA	416
--	rs9624507^1,2	A,C,F,H	23327188(+)	`CATTGT/CTCGAT`	3	--	int¹ ng5¹		4		EU EA WA	398
--	rs7284489^1,2	A,F,H	23328201(+)	`CCCCAA/GATCCA`	3	--	int¹ ng5¹		4		EU EA WA	386
--	rs7292010^1,2	A,F,H	23328182(+)	`CTTCCG/ACCTGG`	3	--	ng5¹ int¹		4		EU EA WA	394
	rs5760493^1,2	A,C,H	23328400(+)	`CTTGCT/AAAGAG`	3	--	int¹ ng5¹		4		EU EA WA	418
	rs7285339^1,2	F,H	23308654(+)	`CAGTTC/GCTGGC`	1	--	ng5¹ tfbs³		4		EU EA WA	402
--	rs2330797^1,2	F,H	23328389(+)	`TAAGCG/ATGAGC`	3	--	ng5¹ int¹		4		EU EA WA	418
--	rs5760494^1,2	A,C	23328553(+)	`CTCATC/TCCCCT`	3	--	ng5¹ int¹		0	--	--	--	--

About this table

HapMap Linkage Disequilibrium images for GGT1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 231950

UniProtKB/Swiss-Prot: GGT1_HUMAN, P19440

Defects in GGT1 are a cause of glutathionuria [MIM:231950]; also known as

gamma-glutamyltranspeptidase deficiency. It is an autosomal recessive disease

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

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
liver diseases	80.74	91	1972004 (2), 19100265 (2), 17379020 (2), 8622806 (2) (see all 64)
cholestasis	79.53	49	10777184 (4), 9794902 (2), 11853185 (2), 1673269 (1) (see all 38)
fatty liver	77.74	55	15052692 (4), 16203871 (2), 19065605 (2), 16108838 (2) (see all 35)
cholestasis intrahepatic	73.55	14	9794902 (1), 11420418 (1), 1352544 (1), 11853185 (1) (see all 13)
liver damage	72.97	25	18354148 (2), 9468250 (2), 7903815 (1), 7913793 (1) (see all 22)
biliary cirrhosis primary	68.77	5	15054524 (1), 7723166 (1), 10601067 (1), 12239904 (1) (see all 5)
alcohol abuse	68.19	39	18337017 (4), 15365303 (4), 7645101 (1), 9547899 (1) (see all 28)
alcoholism	66.57	32	15365303 (4), 8622806 (3), 8098887 (2), 8885374 (1) (see all 22)
byler disease	66.47	2	19133130 (1)
function liver abnormal	66.12	6	9684195 (1), 11382183 (1), 11950183 (1), 14686498 (1) (see all 5)

About this table

Human Genome Epidemiology Navigator: GGT1 (3 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

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

10/1160 PubMed articles for GGT1 gene (see all 1160 ):

The human gamma-glutamyltransferase gene family. (PubMed id 18357469)^{2, 3} Heisterkamp N....Sneddon T.P. (2008)
A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)^{3, 4} 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)^{3, 4} Gerhard D.S....Malek J. (2004)
A proteomic analysis of human bile. (PubMed id 15084671)^{3, 4} Kristiansen T.Z.... Pandey A. (2004)
Gamma-glutamyl transpeptidase gene organization and expression: a comparative analysis in rat, mouse, pig and human species. (PubMed id 10392451)^{3, 4} Chikhi N.... Laperche Y. (1999)
The DNA sequence of human chromosome 22. (PubMed id 10591208)^{3, 4} Dunham I....O'Brien K.P. (1999)
Effects of substitutions of the conserved histidine residues in human gamma-glutamyl transpeptidase. (PubMed id 8827453)^{3, 4} Ikeda Y.... Taniguchi N. (1996)
Involvement of Ser-451 and Ser-452 in the catalysis of human gamma- glutamyl transpeptidase. (PubMed id 7673200)^{3, 4} Ikeda Y.... Meister A. (1995)
Human gamma-glutamyl transpeptidase mutants involving conserved aspartate residues and the unique cysteine residue of the light subunit. (PubMed id 7759490)^{3, 4} Ikeda Y.... Meister A. (1995)
Human lung expresses unique gamma-glutamyl transpeptidase transcripts. (PubMed id 7689219)^{3, 4} Wetmore L.A.... Drazen J.M. (1993)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 2678	HGNC: 4250	AceView: SNRPD3andGGT1	Ensembl:ENSG00000100031	euGenes: HUgn2678
ECgene: GGT1	H-InvDB: GGT1

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
ATLAS Chromosomes in Cancer entry for GGT1	Genetics and Cytogenetics in Oncology and Haematology
Wikipedia	http://en.wikipedia.org/wiki/Gamma_glutamyl_transpeptidase

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
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Products for GGT1:

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GGT1 Gene

protein-coding GIFtS: 65

Aliases &
Descriptions
for GGT1

Summaries
for GGT1

Genomic Location
for GGT1

Proteins
for GGT1

Protein Domains/
Families
for GGT1

Gene Function
for GGT1

Pathways & Interactions
for GGT1

Drugs & Compounds
for GGT1

Transcripts
for GGT1

Expression
for GGT1

Orthologs
for GGT1

Paralogs
for GGT1

SNPs/Variants
for GGT1

Disorders & Mutations
for GGT1

Medical News
for GGT1

Publications
for GGT1

Search for GGT1

Genome Databases showing GGT1

Other Databases showing GGT1

Specialized Databases showing GGT1

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for GGT1

Services
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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

GGT1 Gene

protein-coding GIFtS: 65

Aliases & Descriptionsfor GGT1

Summariesfor GGT1

Genomic Locationfor GGT1

Proteinsfor GGT1

Protein Domains/Familiesfor GGT1

Gene Functionfor GGT1

Pathways & Interactionsfor GGT1

Drugs & Compoundsfor GGT1

Transcriptsfor GGT1

Expression for GGT1

Orthologsfor GGT1

Paralogsfor GGT1

SNPs/Variantsfor GGT1

Disorders & Mutationsfor GGT1

Medical Newsfor GGT1

Publicationsfor GGT1

Search for GGT1

Genome Databases showing GGT1

Other Databases showing GGT1

Specialized Databases showing GGT1

Licensable Technologiesfor GGT1

Servicesfor GGT1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for GGT1

Summaries
for GGT1

Genomic Location
for GGT1

Proteins
for GGT1

Protein Domains/
Families
for GGT1

Gene Function
for GGT1

Pathways & Interactions
for GGT1

Drugs & Compounds
for GGT1

Transcripts
for GGT1

Expression
for GGT1

Orthologs
for GGT1

Paralogs
for GGT1

SNPs/Variants
for GGT1

Disorders & Mutations
for GGT1

Medical News
for GGT1

Publications
for GGT1

Licensable Technologies
for GGT1

Services
for GGT1