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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GGT3P Gene

pseudogene   GIFtS: 33
GCID: GC22M018765

Gamma-Glutamyltransferase 3 Pseudogene

(Previous name: gamma-glutamyltransferase 3)
(Previous symbol: GGT3)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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

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 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.2  NT_011519.10  
Regulatory elements:
   SABiosciences 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

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for GGT3P

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: GGT3_HUMAN, A6NGU5 (See protein sequence)
Recommended Name: Putative gamma-glutamyltranspeptidase 3 precursor  
Size: 568 amino acids; 61502 Da
Subcellular location: Membrane; Single-pass type II membrane protein (By similarity)
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

4/14 DME Specific Peptides for GGT3P (A6NGU5) (see all 14)
 LCEVFCR  TIYNSTT  PSPANFI  VVQAIVRT 

GGT3P Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --

Human Recombinant Protein Products for GGT3P: 
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Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016021integral to membrane IEA--
GO:0031362anchored to external side of plasma membrane TAS18357469

GGT3P for ontologies           About GeneDecksing



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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
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,
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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

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 (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003840gamma-glutamyltransferase activity TAS18357469
GO:0036374glutathione hydrolase activity IEA--
     
GGT3P for ontologies           About GeneDecksing


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(Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
About This Section



UniProtKB/Swiss-Prot: GGT3_HUMAN, A6NGU5
Pathway: Sulfur metabolism; glutathione metabolism

Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GGT3P

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

GO IDQualified GO termEvidencePubMed IDs
GO:0006749glutathione metabolic process TAS18357469
GO:0006750glutathione biosynthetic process IEA--
GO:0019370leukotriene biosynthetic process ISS--

GGT3P for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
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Browse Tocris compounds for GGT3P (GGT3)

2 HMDB Compounds for GGT3P    About this table
CompoundSynonyms CAS #PubMed Ids
Leukotriene C5LTC(,5) 75207-09-9--
Leukotriene D5LTD(,5) ----

Search CenterWatch for drugs/clinical trials and news about GGT3P

(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,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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

miRNA
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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 

24/35 AceView cDNA sequences (see all 35):

CR613324 BU584289 M30474 BV198359 BV176035 BV196122 BV198360 BV198943 
BV199127 BV193587 BV181075 AA775790 BF884661 BQ016232 BV185406 CD620126 
BU584622 AA917932 BF515607 BE171984 AW611477 H27285 AW242750 CD620127 

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™, 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

GGT3P expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
GGT3P Expression
About this image


Genevestigator expression for GGT3P

SOURCE GeneReport for Unigene cluster: Hs.595809
    SABiosciences Custom PCR Arrays for GGT3P
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GGT3P

(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 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)
About This Section
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) 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

10/360 SNPs in GGT3P are shown (see all 360)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 22 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs2021002491,2
F--18762635(+) TCATCC/TGGCGT 1 -- nc-transcript-variant1Minor allele frequency- T:0.01EU 269
rs2013031171,2
F--18762712(+) GGCAGC/TGAAGA 1 -- nc-transcript-variant1Minor allele frequency- T:0.11EU 247
rs2012736221,2
C--18763214(+) TGGAAA/TGTGGC 1 -- int10--------
rs2014551991,2
C--18763237(+) TGCAAA/GGGCCC 1 -- int10--------
rs712420771,2
C--18763277(+) TAGGCG/AGAGAG 1 -- int11Minor allele frequency- A:0.50NA 2
rs712420791,2
C--18763400(+) GCAGAG/AGAATG 1 -- int11Minor allele frequency- A:0.50NA 2
rs2007218371,2
C--18763460(+) GATAAA/GGATAA 1 -- int10--------
rs2000924071,2
C--18765116(+) GGAAAA/TGGGAA 1 -- int10--------
rs2018508961,2
C--18765163(+) TTTTGC/G/TAGGTG 1 -- int10--------
rs2010675621,2
C--18765165(+) TTGTAA/GGTGCG 1 -- int10--------

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

Structural Variations
     Database of Genomic Variants (DGV) 10/18 variations for GGT3P (see all 18):    About this table     
Variant IDTypeSubtypePubMed ID
esv2422290CNV Deletion17116639
nsv821058CNV Duplication20802225
dgv19e196CNV Duplication17116639
nsv471339CNV Duplication19718026
esv2751935CNV Loss17911159
nsv469578CNV Gain16826518
dgv4822n71CNV Gain21882294
dgv4820n71CNV Gain21882294
nsv914164CNV Gain21882294
dgv173e55CNV Gain17911159

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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.)
About This Section
16 diseases for GGT3P:    About MalaCards
benign recurrent intrahepatic cholestasis    stickler syndrome    hyperthyroxinemia    gastroduodenitis
intrahepatic cholestasis    cholestasis    open-angle glaucoma    primary open angle glaucoma
digeorge syndrome    glaucoma    familial adenomatous polyposis    medulloblastoma
insulin resistance    alcoholism    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)
About This Section

PubMed articles for GGT3P gene, integrated from 9 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

  1. The human gamma-glutamyltransferase gene family. (PubMed id 18357469)1, 2, 3 Heisterkamp N.... Sneddon T.P. (2008)
  2. 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. (1993)
  3. siRNA knock-down of gamma-glutamyl transpeptidase does not affect hypoxic K+ channel inhibition. (PubMed id 14715246)1 Williams S.E....Kemp P.J. (2004)
  4. 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. (2003)
  5. 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. (2002)
  6. Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. (PubMed id 10737800)1 Dias Neto E....Simpson A.J.G. (2000)
  7. The DNA sequence of human chromosome 22. (PubMed id 10591208)2 Dunham I....O'Brien K.P. (1999)
  8. Different gamma-glutamyl transpeptidase mRNAs are expressed in human liver and kidney. (PubMed id 2573352)1 Pawlak A.... Guellaen G. (1989)
  9. Characterization of ATP8B1 gene mutations and a hot-l inked mutation found in Chinese children with progressive intrahepatic cholesta sis and low GGT. (PubMed id 20038848)9 Liu L.Y....Wang J.S. (2010)
  10. Characterization of the extracellular gamma-glutamyl transpeptidases, GGT1 and GGT2, in Arabidopsis. (PubMed id 17316175)9 Ohkama-Ohtsu N....Oliver D.J. (2007)

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

(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
  --

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

 
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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