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Set Analyses:

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GGT3P Gene

pseudogene GIFtS: 33
GCID: GC22M018765

Gamma-Glutamyltransferase 3 Pseudogene

(Previous name: gamma-glutamyltransferase 3)
(Previous symbol: GGT3)

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Gamma-Glutamyltransferase 3 Pseudogene¹ ²		EC 3.4.19.13³
GGT3¹ ² ³		GGT 3³
Gamma-Glutamyltransferase 3¹ ³		Glutathione Hydrolase 3³
EC 2.3.2.2³ ⁸

External Ids:	HGNC: 4252¹	Entrez Gene: 2679²	Ensembl: ENSG00000197421⁷	UniProtKB: A6NGU5³

Export aliases for GGT3P gene to outside databases

Previous GC identifer: GC22M017143

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for GGT3P Gene:

GGT3P (gamma-glutamyltransferase 3 pseudogene) is a pseudogene. Diseases associated with GGT3P include benign recurrent intrahepatic cholestasis, and stickler syndrome. GO annotations related to this gene include glutathione hydrolase activity and gamma-glutamyltransferase activity.

UniProtKB/Swiss-Prot: GGT3_HUMAN, A6NGU5

Function: Initiates extracellular glutathione (GSH) breakdown; catalyzes the transfer of the glutamyl moiety of

glutathione to amino acids and dipeptide acceptors (By similarity)

(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000022.11 NC_018933.2 NT_011520.13

Regulatory elements:

Regulatory transcription factor binding sites in the GGT3P gene promoter:
AhR HOXA9 HOXA9B GATA-2 Arnt Meis-1b IRF-2 CBF-A CBF(2) Meis-1
Other transcription factors

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Search Chromatin IP Primers for GGT3P

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GGT3P

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

Entrez Gene cytogenetic band: 22q11.21 Ensembl cytogenetic band: 22q11.21 HGNC cytogenetic band: 22q11.21

GGT3P Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GGT3P gene location

GeneLoc information about chromosome 22 GeneLoc Exon Structure

GeneLoc location for GC22M018765: view genomic region (about GC identifiers)

Start:	18,761,178 bp from pter	End:	18,830,912 bp from pter
Size:	69,735 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: GGT3_HUMAN, A6NGU5 (See protein sequence)

Recommended Name: Putative gamma-glutamyltranspeptidase 3 precursor

Size: 568 amino acids; 61502 Da

Miscellaneous: In some epileptic patients treated with phenytoin, phenobarbital and carbamazepin, GGT3 is found,

as an additional form of GGT. This group of patients has levels of ceruloplasmin and oxidase activity that were

significantly higher than in the group of patients without GGT3. However, levels of ceruloplasmin and oxidase

activity are significantly higher in this group of patients without GGT3 than those of the control group

Caution: Could be the product of a pseudogene. According to PubMed:18357469, it is not functional

Explore the universe of human proteins at neXtProt for GGT3P: NX_A6NGU5

Post-translational modifications:

Cleaved by autocatalysis into a large and a small subunit (By similarity)¹

Glycosylation² at Asn95, Asn120, Asn230, Asn266, Asn297, Asn344, Asn510

Selected DME Specific Peptides for GGT3P (A6NGU5) (see all 14)

LCEVFCR

TIYNSTT

PSPANFI

VVQAIVRT

GGT3P Human Recombinant Protein Products:

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:

GGT: Gamma-glutamyltransferases

1 InterPro protein domain:

IPR000101 GGT_peptidase

Graphical View of Domain Structure for InterPro Entry A6NGU5

ProtoNet protein and cluster: A6NGU5

UniProtKB/Swiss-Prot: GGT3_HUMAN, A6NGU5

Similarity: Belongs to the gamma-glutamyltransferase family

GGT3P for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: GGT3_HUMAN, A6NGU5

Function: Initiates extracellular glutathione (GSH) breakdown; catalyzes the transfer of the glutamyl moiety of

glutathione to amino acids and dipeptide acceptors (By similarity)

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

Enzyme Numbers (IUBMB): EC 2.3.2.2¹ ² EC 3.4.19.13¹

Gene Ontology (GO): 2 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003840	gamma-glutamyltransferase activity	TAS	18357469
GO:0036374	glutathione hydrolase activity	IEA	--

GGT3P for ontologies About GeneDecksing

Animal Models:

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In Situ Assay
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

GGT3_HUMAN, A6NGU5: Membrane; Single-pass type II membrane protein (By similarity)

Gene Ontology (GO): 2 cellular component terms: About this table

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

GGT3P for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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UniProtKB/Swiss-Prot: GGT3_HUMAN, A6NGU5

Pathway: Sulfur metabolism; glutathione metabolism

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Interactions:

Search GeneGlobe Interaction Network for GGT3P

Gene Ontology (GO): 3 biological process terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006749	glutathione metabolic process	TAS	18357469
GO:0006750	glutathione biosynthetic process	IEA	--
GO:0019370	leukotriene biosynthetic process	ISS	--

GGT3P for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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2 HMDB Compounds for GGT3P About this table

Compound	Synonyms	CAS #	PubMed Ids
Leukotriene C5	LTC(,5)	75207-09-9	--
Leukotriene D5	LTD(,5)	--	--

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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Unigene Cluster for GGT3P:

Gamma-glutamyltransferase 3 pseudogene

Hs.595809 [show with all ESTs]

Unigene Representative Sequence: NR_003267

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000412448(uc010gri.1 uc011ago.1 uc011agp.1 uc002zob.1)

ENST00000453783 ENST00000445651 ENST00000430306

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Additional mRNA sequence:

BC108264.1 BC143607.1 NR_003267.1

13 DOTS entries:

DT.120642084 DT.100034647 DT.120642058 DT.120642063 DT.75136348 DT.100669183 DT.100843149 DT.102839611

DT.120668227 DT.87016250 DT.100016221 DT.100669181 DT.70103474

Selected AceView cDNA sequences (see all 35):

CR613324 BU584289 BV198360 BQ016232 AA775790 BV181075 BV193587 BV198359

BV198943 BV199127 BV176035 BV196122 BF884661 M30474 CD620126 BV185406

AA917932 BU584622 H27285 AW611477 AW242750 BE171984 BF515607 AI222095

GeneLoc Exon Structure

(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™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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GGT3P expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: --

About this image

GGT3P Protein expression data from MOPED¹, PaxDb² and MaxQB³:

--

SOURCE GeneReport for Unigene cluster: Hs.595809

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In Situ
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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)
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This gene was present in the common ancestor of chordates.

Orthologs for GGT3P gene from 1 species (see representative species ) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
tropical clawed frog (Xenopus tropicalis)	Amphibia	CF593197.1²	--	74.16(n)		CF593197.1

ENSEMBL Gene Tree for GGT3P (if available)
TreeFam Gene Tree for GGT3P (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for GGT3P gene

8 SIMAP similar genes for GGT3P using alignment to 1 protein entry: GGT3_HUMAN:

GGTLC3 GGT2 GGT GGT1 GGTLC1 GGTLC2

GGTLA4 GGT5

GGT3P for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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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
				--	--	--		--	--
rs202100249^1,2	F	--	18762635(+)	`TCATCC/TGGCGT`	1	--	nc-transcript-variant		1		EU	269
rs201303117^1,2	F	--	18762712(+)	`GGCAGC/TGAAGA`	1	--	nc-transcript-variant		1		EU	247
rs201273622^1,2	C	--	18763214(+)	`TGGAAA/TGTGGC`	1	--	int¹		0	--	--	--	--
rs201455199^1,2	C	--	18763237(+)	`TGCAAA/GGGCCC`	1	--	int¹		0	--	--	--	--
rs71242077^1,2	C	--	18763277(+)	`TAGGCG/AGAGAG`	1	--	int¹		1		NA	2
rs71242079^1,2	C	--	18763400(+)	`GCAGAG/AGAATG`	1	--	int¹		1		NA	2
rs200721837^1,2	C	--	18763460(+)	`GATAAA/GGATAA`	1	--	int¹		0	--	--	--	--
rs200092407^1,2	C	--	18765116(+)	`GGAAAA/TGGGAA`	1	--	int¹		0	--	--	--	--
rs201850896^1,2	C	--	18765163(+)	`TTTTGC/G/TAGGTG`	1	--	int¹		0	--	--	--	--
rs201067562^1,2	C	--	18765165(+)	`TTGTAA/GGTGCG`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for GGT3P (18761178 - 18830912 bp)

Structural Variations
Database of Genomic Variants (DGV) Selected variations for GGT3P (see all 18): About this table

Variant ID	Type	Subtype	PubMed ID
esv2422290	CNV	Deletion	17116639
nsv821058	CNV	Duplication	20802225
dgv19e196	CNV	Duplication	17116639
nsv471339	CNV	Duplication	19718026
esv2751935	CNV	Loss	17911159
nsv469578	CNV	Gain	16826518
dgv4822n71	CNV	Gain	21882294
dgv4820n71	CNV	Gain	21882294
nsv914164	CNV	Gain	21882294
dgv173e55	CNV	Gain	17911159

Site Specific Mutation Identification with PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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15 diseases for GGT3P:
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benign recurrent intrahepatic cholestasis stickler syndrome hyperthyroxinemia gastroduodenitis

intrahepatic cholestasis cholestasis primary open angle glaucoma open-angle glaucoma

digeorge syndrome glaucoma familial adenomatous polyposis medulloblastoma

insulin resistance alzheimer's disease hepatitis

GGT3P for disorders About GeneDecksing

Congresses - knowledge worth sharing:
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

1 Novoseek inferred disease relationship for GGT3P gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cholestasis intrahepatic	72	5	20038848 (4), 11867191 (1)

Export disorders for GGT3P 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)
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PubMed articles for GGT3P gene, integrated from 10 sources (see all 22):
(articles sorted by number of sources associating them with GGT3P)

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

The human gamma-glutamyltransferase gene family. (PubMed id 18357469)^{1, 2, 3} Heisterkamp N.... Sneddon T.P. (Hum. Genet. 2008)
Mapping of human gamma-glutamyl transpeptidase genes on chromosome 22 and other human autosomes. (PubMed id 8104871)^{1, 3} Figlewicz D.A....Rouleau G.A. (Genomics 1993)
siRNA knock-down of gamma-glutamyl transpeptidase does not affect hypoxic K+ channel inhibition. (PubMed id 14715246)¹ Williams S.E....Kemp P.J. (Biochem. Biophys. Res. Commun. 2004)
Assessment of copper status in epileptic patients treated with anticonvulsant drugs by measuring the specific oxidase activity of ceruloplasmin. (PubMed id 14642999)² Tutor-Crespo M.J.... Tutor J.C. (Epilepsy Res. 2003)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. (PubMed id 10737800)¹ Dias Neto E....Simpson A.J.G. (Proc. Natl. Acad. Sci. U.S.A. 2000)
The DNA sequence of human chromosome 22. (PubMed id 10591208)² Dunham I.... Wright H. (Nature 1999)
Different gamma-glutamyl transpeptidase mRNAs are expressed in human liver and kidney. (PubMed id 2573352)¹ Pawlak A.... Guellaen G. (Biochem. Biophys. Res. Commun. 1989)
Characterization of ATP8B1 gene mutations and a hot-linked mutation found in Chinese children with progressive intrahepatic cholestasis and low GGT. (PubMed id 20038848)⁹ Liu L.Y....Wang J.S. (J. Pediatr. Gastroenterol. Nutr. 2010)
Characterization of the extracellular gamma-glutamyl transpeptidases, GGT1 and GGT2, in Arabidopsis. (PubMed id 17316175)⁹ Ohkama-Ohtsu N....Oliver D.J. (Plant J. 2007)

(in PubMed, OMIM, and NCBI Bookshelf)
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		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)
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Entrez Gene: 2679	HGNC: 4252	AceView: GGT2.1	Ensembl:ENSG00000197421	euGenes: HUgn2679
ECgene: GGT3P	H-InvDB: GGT3P

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Intellectual Property for GGT3P gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for GGT3P gene:
Search GeneIP for patents involving GGT3P

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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	OriGene Custom Mass Spec		OriGene clones in human, mouse for GGT3P
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	Block miRNA regulation of human, mouse, rat GGT3P using miScript Target Protectors		SeqTarget long-range PCR primers for resequencing GGT3P
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	Custom PCR Arrays for GGT3P		Search Chromatin IP Primers for GGT3P
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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Hot genes Disease genes GGT3P gene at Home site.

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GGT3P Gene

Gamma-Glutamyltransferase 3 Pseudogene

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GGT3P Gene

Gamma-Glutamyltransferase 3 Pseudogene

Aliasesfor GGT3P gene

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