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Atlas / Gene / GGT6

GGT6

gene
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Also known as FLJ90165

Summary

GGT6 (gamma-glutamyltransferase 6, HGNC:26891) is a protein-coding gene on chromosome 17p13.2, encoding Glutathione hydrolase 6 (Q6P531). Hydrolyzes and transfers gamma-glutamyl moieties from glutathione and other gamma-glutamyl compounds to acceptors.

GGT6 belongs to the gamma-glutamyltransferase (GGT; EC 2.3.2.2) gene family. GGT is a membrane-bound extracellular enzyme that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides and transfers the gamma-glutamyl moiety to acceptors. GGT is also key to glutathione homeostasis because it provides substrates for glutathione synthesis (Heisterkamp et al., 2008 [PubMed 18357469]).

Source: NCBI Gene 124975 — RefSeq curated summary.

At a glance

  • GWAS associations: 2
  • Clinical variants (ClinVar): 104 total
  • MANE Select transcript: NM_001288702

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:26891
Approved symbolGGT6
Namegamma-glutamyltransferase 6
Location17p13.2
Locus typegene with protein product
StatusApproved
AliasesFLJ90165
Ensembl geneENSG00000167741
Ensembl biotypeprotein_coding
OMIM612341
Entrez124975

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 5 protein_coding, 1 retained_intron

ENST00000301395, ENST00000381550, ENST00000573591, ENST00000574154, ENST00000574584, ENST00000575573

RefSeq mRNA: 5 — MANE Select: NM_001288702 NM_001122890, NM_001288702, NM_001288703, NM_001288704, NM_153338

CCDS: CCDS11047, CCDS45582, CCDS73942

Canonical transcript exons

ENST00000381550 — 4 exons

ExonStartEnd
ENSE0000111630045595584559760
ENSE0000124315245569274559057
ENSE0000267567945603824560577
ENSE0000353968245593434559456

Expression profiles

Bgee: expression breadth ubiquitous, 160 present calls, max score 98.14.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.8102 / max 97.2319, expressed in 125 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
1639210.8007124
1639220.00955

Top tissues by expression

239 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
pancreatic ductal cellCL:000207998.14gold quality
upper arm skinUBERON:000426397.40gold quality
mucosa of transverse colonUBERON:000499195.93gold quality
nasal cavity epitheliumUBERON:000538495.36gold quality
lower esophagus mucosaUBERON:003583495.13gold quality
ileal mucosaUBERON:000033194.71gold quality
parotid glandUBERON:000183193.04gold quality
kidney epitheliumUBERON:000481992.83gold quality
skin of abdomenUBERON:000141692.05gold quality
skin of legUBERON:000151191.55gold quality
esophagus mucosaUBERON:000246991.25gold quality
zone of skinUBERON:000001491.02gold quality
rectumUBERON:000105290.25gold quality
body of pancreasUBERON:000115090.15gold quality
olfactory segment of nasal mucosaUBERON:000538689.95gold quality
adult mammalian kidneyUBERON:000008289.54gold quality
duodenumUBERON:000211488.84gold quality
epithelial cell of pancreasCL:000008388.63silver quality
colonic mucosaUBERON:000031788.39gold quality
nasal cavity mucosaUBERON:000182688.37gold quality
saliva-secreting glandUBERON:000104488.19gold quality
minor salivary glandUBERON:000183086.78gold quality
mouth mucosaUBERON:000372986.34gold quality
renal medullaUBERON:000036286.28gold quality
mucosa of sigmoid colonUBERON:000499386.20gold quality
upper leg skinUBERON:000426285.76gold quality
transverse colonUBERON:000115785.13gold quality
mammalian vulvaUBERON:000099784.94gold quality
gingival epitheliumUBERON:000194984.39gold quality
palpebral conjunctivaUBERON:000181284.36gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes12.90
E-GEOD-81383no6.11

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

28 targeting GGT6, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-4795-3P100.0074.624024
HSA-MIR-126-5P100.0072.713180
HSA-MIR-6748-5P100.0065.811057
HSA-MIR-4747-5P100.0067.902681
HSA-MIR-5196-5P100.0067.982761
HSA-MIR-150-5P99.9966.691976
HSA-MIR-512-3P99.9767.351049
HSA-MIR-6778-3P99.9667.292693
HSA-MIR-302E99.9670.742669
HSA-MIR-182799.6368.573265
HSA-MIR-6727-3P99.4965.921333
HSA-MIR-568399.3668.592083
HSA-MIR-4722-3P99.3565.221099
HSA-MIR-504-3P99.3067.181745
HSA-MIR-6504-3P99.1769.312891
HSA-MIR-6768-3P99.1467.381319
HSA-MIR-7151-3P99.0469.722370
HSA-MIR-1227-5P98.6565.321549
HSA-MIR-1910-3P98.4467.511695
HSA-MIR-807898.3265.73361
HSA-MIR-660-3P98.1466.041434
HSA-MIR-3130-5P98.1466.00711
HSA-MIR-6511A-5P98.1367.471770
HSA-MIR-6747-3P97.7364.841596
HSA-MIR-4482-5P97.5365.68598
HSA-MIR-320E97.4965.96865
HSA-MIR-64597.2866.30486
HSA-MIR-552-3P96.6864.121026

Literature-anchored findings (GeneRIF, showing 1)

  • Variants of GGT6 were associated with rheumatoid arthritis in an Arab population. (PMID:28118524)

Cross-species orthologs

8 orthologs

OrganismSymbolGene ID
mus_musculusGgt6ENSMUSG00000040471
rattus_norvegicusGgt6ENSRNOG00000015210
drosophila_melanogasterCG17636FBGN0025837
drosophila_melanogasterCG1492FBGN0030361
drosophila_melanogasterCG4829FBGN0030796
drosophila_melanogasterGgt-1FBGN0030932
caenorhabditis_elegansWBGENE00012416
caenorhabditis_elegansC53D5.5WBGENE00016906

Paralogs (6): GGT5 (ENSG00000099998), GGT1 (ENSG00000100031), GGTLC2 (ENSG00000100121), GGT7 (ENSG00000131067), GGTLC1 (ENSG00000149435), GGTLC3 (ENSG00000274252)

Protein

Protein identifiers

Glutathione hydrolase 6 — Q6P531 (reviewed: Q6P531)

Alternative names: Gamma-glutamyltransferase 6, Gamma-glutamyltranspeptidase 6

All UniProt accessions (4): B4DPG6, Q6P531, I3L2G6, J3KPJ0

UniProt curated annotations — full annotation on UniProt →

Function. Hydrolyzes and transfers gamma-glutamyl moieties from glutathione and other gamma-glutamyl compounds to acceptors.

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

Subcellular location. Membrane.

Post-translational modifications. Cleaved by autocatalysis into a large and a small subunit and the autocatalytic cleavage is essential to the functional activation of the enzyme.

Pathway. Sulfur metabolism; glutathione metabolism.

Similarity. Belongs to the gamma-glutamyltransferase family.

Isoforms (2)

UniProt IDNamesCanonical?
Q6P531-11yes
Q6P531-22

RefSeq proteins (5): NP_001116362, NP_001275631, NP_001275632, NP_001275633, NP_699169 (=MANE)

Domains & families (InterPro)

IDNameType
IPR029055Ntn_hydrolases_NHomologous_superfamily
IPR043137GGT_ssub_CHomologous_superfamily
IPR052688Gamma-glutamyltransfaseFamily

Pfam: PF01019

Catalyzed reactions (Rhea), 3 shown:

  • an N-terminal (5-L-glutamyl)-[peptide] + an alpha-amino acid = 5-L-glutamyl amino acid + an N-terminal L-alpha-aminoacyl-[peptide] (RHEA:23904)
  • glutathione + H2O = L-cysteinylglycine + L-glutamate (RHEA:28807)
  • an S-substituted glutathione + H2O = an S-substituted L-cysteinylglycine + L-glutamate (RHEA:59468)

UniProt features (15 total): region of interest 3, chain 2, glycosylation site 2, sequence variant 2, topological domain 2, compositionally biased region 2, splice variant 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q6P531-F170.430.37

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (2): 161, 370

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

IDPathway
R-HSA-174403Glutathione synthesis and recycling
R-HSA-5423646Aflatoxin activation and detoxification
R-HSA-9753281Paracetamol ADME

MSigDB gene sets: 77 (showing top): REACTOME_BIOLOGICAL_OXIDATIONS, GOBP_LEUKOTRIENE_BIOSYNTHETIC_PROCESS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, GOBP_PEPTIDE_METABOLIC_PROCESS, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, GOBP_SULFUR_COMPOUND_BIOSYNTHETIC_PROCESS, KEGG_TAURINE_AND_HYPOTAURINE_METABOLISM, GOBP_AMIDE_METABOLIC_PROCESS, GOBP_NONRIBOSOMAL_PEPTIDE_BIOSYNTHETIC_PROCESS, GOBP_AMIDE_BIOSYNTHETIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, LYF1_01, REACTOME_GLUTATHIONE_CONJUGATION, GOBP_LIPID_BIOSYNTHETIC_PROCESS

GO Biological Process (3): glutathione biosynthetic process (GO:0006750), leukotriene D4 biosynthetic process (GO:1901750), glutathione metabolic process (GO:0006749)

GO Molecular Function (6): glutathione gamma-glutamate hydrolase (GO:0036374), obsolete leukotriene C4 gamma-glutamyl transferase activity (GO:0103068), protein binding (GO:0005515), transferase activity (GO:0016740), acyltransferase activity (GO:0016746), hydrolase activity (GO:0016787)

GO Cellular Component (2): membrane (GO:0016020), extracellular exosome (GO:0070062)

Reactome top-level categories

Rollup of top-3 pathways:

CategoryPathways
Glutathione conjugation1
Biological oxidations1
Drug ADME1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
sulfur compound biosynthetic process2
catalytic activity2
glutathione metabolic process1
nonribosomal peptide biosynthetic process1
modified amino acid biosynthetic process1
leukotriene biosynthetic process1
fatty acid derivative biosynthetic process1
modified amino acid metabolic process1
sulfur compound metabolic process1
omega peptidase activity1
threonine-type peptidase activity1
binding1
transferase activity1
cellular anatomical structure1
extracellular vesicle1

Protein interactions and networks

STRING

774 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
GGT6GGTLC2Q14390848
GGT6GGTLC1Q9BX51844
GGT6GGTLC3B5MD39801
GGT6ALPGP10696772
GGT6GOT1L1Q8NHS2733
GGT6ALPIP09923670
GGT6ALPPP05187665
GGT6NPEPPSP55786638
GGT6LDHAL6BQ9BYZ2635
GGT6GOT1P17174634
GGT6LDHAL6AQ6ZMR3633
GGT6LDHCP07864630
GGT6ALPLP05186592
GGT6GGT5P36269532
GGT6GOT2P00505503

IntAct

30 interactions, top by confidence:

ABTypeScore
GGT6FAM3Cpsi-mi:“MI:0915”(physical association)0.560
GGT6TMBIM1psi-mi:“MI:0915”(physical association)0.560
ADAM33GGT6psi-mi:“MI:0915”(physical association)0.560
BMP10GGT6psi-mi:“MI:0915”(physical association)0.560
GGT6FAIM2psi-mi:“MI:0915”(physical association)0.560
GGT6GRINApsi-mi:“MI:0915”(physical association)0.560
ENTPD3GGT6psi-mi:“MI:0915”(physical association)0.560
GGT6SEC22Apsi-mi:“MI:0915”(physical association)0.560
GGT6TNMDpsi-mi:“MI:0915”(physical association)0.560
CUL4ADDX39Apsi-mi:“MI:0914”(association)0.350
FAM3CGGT6psi-mi:“MI:0915”(physical association)0.000
TNMDGGT6psi-mi:“MI:0915”(physical association)0.000
SEC22AGGT6psi-mi:“MI:0915”(physical association)0.000
TMBIM1GGT6psi-mi:“MI:0915”(physical association)0.000
ADAM33GGT6psi-mi:“MI:0915”(physical association)0.000
BMP10GGT6psi-mi:“MI:0915”(physical association)0.000
FAIM2GGT6psi-mi:“MI:0915”(physical association)0.000
GRINAGGT6psi-mi:“MI:0915”(physical association)0.000
ENTPD3GGT6psi-mi:“MI:0915”(physical association)0.000
GGT6hpaEpsi-mi:“MI:0915”(physical association)0.000

BioGRID (14): GGT6 (Reconstituted Complex), GGT6 (Affinity Capture-MS), GGT6 (Affinity Capture-MS), GGT6 (Two-hybrid), GGT6 (Two-hybrid), GGT6 (Two-hybrid), GGT6 (Two-hybrid), GGT6 (Two-hybrid), GGT6 (Two-hybrid), ENTPD3 (Two-hybrid), GRINA (Two-hybrid), FAM3C (Two-hybrid), GGT6 (Positive Genetic), FAM19A2 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A1B0GTW7, A0A286YEC0, A6NE52, A7YWM1, D3ZT86, D3ZVB0, G7PWZ3, O08852, O77755, P05111, P07994, P17490, P20863, P27106, P29474, P49000, P98161, Q04997, Q05932, Q16671, Q28680, Q3TAP4, Q4TUC0, Q5TJE4, Q62893, Q6IE08, Q6P531, Q6PDE7, Q6QNU9, Q6ZS72, Q76MJ5, Q7M733, Q7TQH7, Q7Z4F1, Q866Y3, Q8IZF5, Q8K0R6, Q8K592, Q8R2S1, Q8VCS0

Diamond homologs: A7YWM1, P07314, Q0V8L2, Q60928, Q6IE08, Q6P531, Q6PDE7, Q8VYW6, Q99JP7, Q99MZ4, Q9UJ14, A6NGU5, B5MD39, B8NM71, D4B387, O14194, P0DPU3, P0DPU6, P15557, P18956, P19440, P20735, P36267, P36268, Q05053, Q05902, Q14390, Q51693, Q680I5, Q9BX51, Q9CAR5, Q9I406, Q9M0G0, Q9QWE9, Q9US04, Q9Z2A9, A6T9C8, O05218

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

104 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance89
Likely benign11
Benign2

Top pathogenic / likely-pathogenic (0)

SpliceAI

372 predictions. Top by Δscore:

VariantEffectΔscore
17:4560378:TTAC:Tdonor_loss1.0000
17:4560379:TAC:Tdonor_loss1.0000
17:4560380:A:ACdonor_gain1.0000
17:4560381:C:CTdonor_gain1.0000
17:4560381:CCT:Cdonor_gain1.0000
17:4559345:AGC:Adonor_gain0.9900
17:4559345:AGCC:Adonor_gain0.9900
17:4559452:TGTGG:Tacceptor_gain0.9900
17:4559552:A:ACdonor_gain0.9900
17:4559553:C:CCdonor_gain0.9900
17:4559556:A:ATdonor_loss0.9900
17:4559761:C:CCacceptor_gain0.9900
17:4559762:T:Aacceptor_loss0.9900
17:4560377:CTTA:Cdonor_gain0.9900
17:4560380:AC:Adonor_gain0.9900
17:4560381:CC:Cdonor_gain0.9900
17:4560381:CCTG:Cdonor_gain0.9900
17:4560381:CCTGG:Cdonor_gain0.9900
17:4559338:CTGA:Cdonor_loss0.9800
17:4559339:TGACC:Tdonor_loss0.9800
17:4559340:GACCT:Gdonor_loss0.9800
17:4559341:A:Cdonor_loss0.9800
17:4559345:AG:Adonor_gain0.9800
17:4559454:TGG:Tacceptor_gain0.9800
17:4559457:C:CCacceptor_gain0.9800
17:4559553:CTGA:Cdonor_gain0.9800
17:4559758:TTC:Tacceptor_gain0.9800
17:4560379:TACC:Tdonor_gain0.9800
17:4559056:ACCT:Aacceptor_loss0.9700
17:4559058:CT:Cacceptor_loss0.9700

AlphaMissense

3134 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
17:4558858:G:CF213L0.977
17:4558858:G:TF213L0.977
17:4558860:A:GF213L0.977
17:4559565:G:CS112R0.966
17:4559565:G:TS112R0.966
17:4559567:T:GS112R0.966
17:4558859:A:GF213S0.939
17:4558859:A:CF213C0.912
17:4558871:G:TA209D0.909
17:4559043:C:GG152R0.909
17:4559403:C:GD127H0.901
17:4558790:C:GC236S0.896
17:4558791:A:TC236S0.896
17:4559047:A:CF150L0.896
17:4559047:A:TF150L0.896
17:4559049:A:GF150L0.896
17:4559393:A:TV130D0.888
17:4558903:C:AW198C0.887
17:4558903:C:GW198C0.887
17:4558916:C:TG194D0.886
17:4558916:C:AG194V0.883
17:4559402:T:AD127V0.882
17:4558744:G:CN251K0.880
17:4558744:G:TN251K0.880
17:4558248:C:GG417R0.872
17:4558248:C:TG417R0.872
17:4559400:C:GA128P0.871
17:4559401:A:CD127E0.867
17:4559401:A:TD127E0.867
17:4558378:A:CF373L0.866

dbSNP variants (sampled 300 via entrez): RS1000454827 (17:4560961 G>A,T), RS1001384175 (17:4557519 T>C), RS1001450481 (17:4556616 G>A), RS1001573915 (17:4561830 C>T), RS1001734713 (17:4556807 G>A,C), RS1002803380 (17:4561941 T>C), RS1003454601 (17:4559198 G>A,C,T), RS1003531361 (17:4555829 C>T), RS1003709593 (17:4556104 A>G,T), RS1004867923 (17:4560398 G>A), RS1005275588 (17:4557798 A>G,T), RS1005295281 (17:4556182 C>T), RS1005406108 (17:4555977 A>C,T), RS1005465461 (17:4561590 G>A), RS1005763562 (17:4561754 G>A,C,T)

Disease associations

OMIM: gene MIM:612341 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

StudyTraitp-value
GCST004172_3Rheumatoid arthritis7.000000e-07
GCST004174_3Rheumatoid arthritis (rheumatoid factor and/or anti-cyclic citrullinated peptide seropositive)6.000000e-09

EFO canonical traits (2, from GWAS)

EFO IDTrait name
EFO:0007791rheumatoid factor seropositivity measurement
EFO:0007837anti-citrullinated protein antibody seropositivity

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

ChemicalActions (top 5)PubMed papers
sodium arsenitedecreases expression, increases expression2
(+)-JQ1 compounddecreases expression2
Air Pollutantsaffects methylation, increases abundance, decreases expression2
Estradiolaffects cotreatment, decreases expression, increases expression2
Particulate Matterdecreases expression, increases abundance, affects methylation2
sodium arsenatedecreases expression, increases abundance1
butyraldehydedecreases expression1
CGP 52608affects binding, increases reaction1
nutlin 3increases expression, affects cotreatment1
Acetaminophenincreases expression1
Arsenicdecreases expression, increases abundance1
Benzo(a)pyrenedecreases methylation1
Cannabidioldecreases expression1
Dactinomycinaffects cotreatment, increases expression1
Nitrogen Dioxideaffects methylation, increases abundance1
Tobacco Smoke Pollutionincreases expression1
Urethanedecreases expression1
Valproic Acidincreases methylation1
Copper Sulfateincreases expression1
S-Nitrosoglutathioneincreases expression1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.4
BioBTree
v2.0.2

Sources 75

This page pulls from 75 datasets indexed by BioBTree:

alphafoldalphamissenseantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticsccdscellosauruschembl_activitychembl_targetciviccivic_evidenceclingen_dosageclingen_gene_validityclinical_trialsclinvarcollectrictd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityexonfantom5_genefantom5_promotergenccgenerifgogoparentgtopdbgwasgwas_studyhgnchpointactinterprointogenjasparmeshmimmirdbmondomsigdborphanetorthologparalogpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assaypubmedreactomereactomeparentrefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorspliceaistring_interactiontranscriptufeatureuniprot