Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 2944
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol GSTM1   Gene   UCSC   Ensembl
Aliases GST1, GSTM1-1, GSTM1a-1a, GSTM1b-1b, GTH4, GTM1, H-B, MU, MU-1
Gene name glutathione S-transferase mu 1
Alternate names glutathione S-transferase Mu 1, GST HB subunit 4, GST class-mu 1, HB subunit 4, S-(hydroxyalkyl)glutathione lyase, glutathione S-alkyltransferase, glutathione S-aralkyltransferase, glutathione S-aryltransferase, glutathione S-transferase M1,
Gene location 1p13.3 (109687795: 109693744)     Exons: 8     NC_000001.11
Gene summary(Entrez) Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Null mutations of this class mu gene have been linked with an increase in a number of cancers, likely due to an increased susceptibility to environmental toxins and carcinogens. Multiple protein isoforms are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008]
OMIM 138350

Protein Summary
Protein general information P09488  

Name: Glutathione S transferase Mu 1 (EC 2.5.1.18) (GST HB subunit 4) (GST class mu 1) (GSTM1 1) (GSTM1a 1a) (GSTM1b 1b) (GTH4)

Length: 218  Mass: 25,712

Tissue specificity: Liver (at protein level). {ECO

Sequence MPMILGYWDIRGLAHAIRLLLEYTDSSYEEKKYTMGDAPDYDRSQWLNEKFKLGLDFPNLPYLIDGAHKITQSNA
ILCYIARKHNLCGETEEEKIRVDILENQTMDNHMQLGMICYNPEFEKLKPKYLEELPEKLKLYSEFLGKRPWFAG
NKITFVDFLVYDVLDLHRIFEPKCLDAFPNLKDFISRFEGLEKISAYMKSSRFLPRPVFSKMAVWGNK
Structural information
Protein Domains
 GST (2-88)
GST (90-208)
Interpro:  IPR010987 IPR004045 IPR004046 IPR003081 IPR012336
Prosite:   PS50405 PS50404

Pfam:  		 PF14497 PF02798

PDB:  		 1GTU 1XW6 1XWK 1YJ6 2F3M
PDBsum:   1GTU 1XW6 1XWK 1YJ6 2F3M
STRING:   ENSP00000311469;
Other Databases GeneCards:  GSTM1;  Malacards:  GSTM1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0004364 glutathione transferase a
ctivity
 IDA molecular_function
GO:0004364 glutathione transferase a
ctivity
 TAS molecular_function
GO:0005737 cytoplasm
 IDA cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0006749 glutathione metabolic pro
cess
 IDA biological_process
GO:0018916 nitrobenzene metabolic pr
ocess
 IDA biological_process
GO:0019899 enzyme binding
 IPI molecular_function
GO:0042178 xenobiotic catabolic proc
ess
 IDA biological_process
GO:0042803 protein homodimerization
activity
 IPI molecular_function
GO:0043295 glutathione binding
 IDA molecular_function
GO:0070458 cellular detoxification o
f nitrogen compound
 IDA biological_process
GO:1901687 glutathione derivative bi
osynthetic process
 TAS biological_process
GO:0004364 glutathione transferase a
ctivity
 IEA molecular_function
GO:0004364 glutathione transferase a
ctivity
 IEA molecular_function
GO:0004364 glutathione transferase a
ctivity
 IDA molecular_function
GO:0004364 glutathione transferase a
ctivity
 TAS molecular_function
GO:0004364 glutathione transferase a
ctivity
 TAS molecular_function
GO:0005737 cytoplasm
 IEA cellular_component
GO:0005737 cytoplasm
 IEA cellular_component
GO:0005737 cytoplasm
 IDA cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0006749 glutathione metabolic pro
cess
 IDA biological_process
GO:0008152 metabolic process
 IEA biological_process
GO:0016740 transferase activity
 IEA molecular_function
GO:0018916 nitrobenzene metabolic pr
ocess
 IDA biological_process
GO:0019899 enzyme binding
 IPI molecular_function
GO:0042178 xenobiotic catabolic proc
ess
 IDA biological_process
GO:0042803 protein homodimerization
activity
 IPI molecular_function
GO:0043295 glutathione binding
 IDA molecular_function
GO:0070458 cellular detoxification o
f nitrogen compound
 IDA biological_process
GO:1901687 glutathione derivative bi
osynthetic process
 TAS biological_process
GO:0004364 glutathione transferase a
ctivity
 IDA molecular_function
GO:0004364 glutathione transferase a
ctivity
 TAS molecular_function
GO:0004364 glutathione transferase a
ctivity
 TAS molecular_function
GO:0005737 cytoplasm
 IDA cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0006749 glutathione metabolic pro
cess
 IDA biological_process
GO:0018916 nitrobenzene metabolic pr
ocess
 IDA biological_process
GO:0019899 enzyme binding
 IPI molecular_function
GO:0042178 xenobiotic catabolic proc
ess
 IDA biological_process
GO:0042803 protein homodimerization
activity
 IPI molecular_function
GO:0043295 glutathione binding
 IDA molecular_function
GO:0070458 cellular detoxification o
f nitrogen compound
 IDA biological_process
GO:1901687 glutathione derivative bi
osynthetic process
 TAS biological_process

KEGG pathways

hsa05418  Fluid shear stress and atherosclerosis
hsa01524  Platinum drug resistance
hsa05204  Chemical carcinogenesis
hsa00980  Metabolism of xenobiotics by cytochrome P450
hsa00982  Drug metabolism - cytochrome P450
hsa00480  Glutathione metabolism

Diseases

Associated diseases References
Anemia PMID: 14752874
Aplastic anemia PMID: 14681495
Asthenozoospermia PMID: 25825237
Asthma PMID: 12018173
Atherosclerosis PMID: 15167446
Autism PMID: 16472391
Azoospermia PMID: 23450492
Cancer PMID: 20056743
Cataract PMID: 8631631
Chronic obstructive pulmonary disease (COPD) PMID: 12149538
Chronic toxic encephalopathy PMID: 14992466
Cleft lip PMID: 18449058
Crohn's disease PMID: 12631667
Cystic fibrosis PMID: 15125256
Dermatitis PMID: 19842992
Diabetes PMID: 19752172
Diabetic neuropathy PMID: 15125229
Ehlers-Danlos syndrome PMID: 17020091
Encephalopathy PMID: 17022435
Endometriosis PMID: 10381818
Exfoliation syndrome PMID: 18334963
Eye diseases PMID: 18447907
Fatty liver PMID: 18492019
Fetal growth retardation PMID: 19440446
Gastric disease PMID: 15734972
Genital diseases PMID: 19799358
Glaucoma PMID: 11040079
Hearing loss PMID: 19643173
Hepatic veno-occlusive disease PMID: 18641537
Idiopathic azoospermia PMID: 25532576
Idiopathic male infertility PMID: 20505681
Impaired spermatogenesis PMID: 23311983
Keratosis PMID: 12485442
Leiomyoma PMID: 18829006
Limb deficiency defects PMID: 16906563
Male infertility PMID: 21561808
Mental development PMID: 19860743
Miscarriage PMID: 19892789
Myelodysplastic syndrome PMID: 16620556
Nephrotic syndrome PMID: 18594869
Neuropathy PMID: 15838728
Neutropenia PMID: 19074750
Non-allergic nasal polyposis PMID: 19701760
Obesity PMID: 19057702
Oligoasthenoteratozoospermia PMID: 23324581
Oligoasthenozoospermia PMID: 22648520
Oligozoospermia PMID: 20629642
Optic nerve diseases PMID: 19286687
Osteoarthritis PMID: 12421093
Pancreatitis PMID: 15131792
Parkinson's disease PMID: 11688992
Peripheral nervous system diseases PMID: 19223573
Polycystic ovaries (PCO) PMID: 15333250
Preeclampsia PMID: 11751440
Premature birth PMID: 18706519
Premature ovarian failure ( POF) PMID: 18630123
Preterm delivery PMID: 11520401
Preterm delivery PMID: 18589596
Endometriosis INFBASE9358003
Proteinuria PMID: 18455004
Psoriasis PMID: 12713578
Rheumatoid arthritis PMID: 11920399
Sarcoma PMID: 15459223
Schizophrenia PMID: 11181039
Spermatogenetic defects PMID: 22648520
Spermatogenetic defects PMID: 8876265
Systemic lupus erythematosus PMID: 12563680
Tardive dyskinesia PMID: 16160620
Varicocele PMID: 21546615

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
26350109 Endometrio
sis
 Brazili
an
 218 (121 confir
med endometrios
is, 97 women wi
thout evidence
of endometriosi
s)
 Female infertility
Show abstract
19535834 Endometrio
sis
 GSTM1 null (*0/*0)
199 (102 women
without endomet
riosis, 97 wome
n with endomet
riosis)
Show abstract
15861041 Endometrio
sis
 CYP1A1 (6235T>C) polymorphism and GSTM1, GSTT1 null mutations South I
ndian
 525 (310 women
with laparoscop
ically proven e
ndometriosis (r
AFS III=101; IV
=209), 215 wome
n without endom
etriosis)
 GSTM1
GSTT1
CYP1A1
 Show abstract
12760253 Endometrio
sis
74 patients wit
h extragenital
endometriosis
 CYP1A1
mEPHX1
CYP2E1
NAT2
and GSTM1
 Show abstract
12620480 Endometrio
sis
 CYP19 VNTR (TTTA)(10) allele, CYP1A1 m1 polymorphism, GSTM1 null deletion, GSTT1 null deletion
621 (275 women
with sporadic e
ndometriosis, 3
46 fertile endo
metriosis-free
women)
 Female infertility CYP1A1
CYP19
GSTM1
and GSTT1
 Show abstract
11730751 Endometrio
sis
 CYP1A1 m1 polymorphism, GSTM1 null deletion, GSTT1 null deletion

GSTT1
CYP1A1
GSTM1
 Show abstract
11675474 Endometrio
sis
 GSTM1, GSTT1, CYP1A1 French
and Sla
vic pop
ulation
s
 276 (148 women
each with endom
etriosis (spora
dic cases, n =
91; familial ca
ses, n = 57), a
population con
trol of 95 male
blood donors,
and a control g
roup of 53 wome
n with a normal
pelvis at hyst
erectomy)
 GSTM1
GSTT1
CYP1A1
 Show abstract
25549292 Endometrio
sis
 Tunisia
n
 255 (105 women
with endometrio
sis, 150 health
y women with no
laparoscopic e
vidence of dise
ase)
 GSTM1
GSTT1
 Show abstract
25461363 Endometrio
sis
 Caucasi
ans, As
ians
GSTM1 (2593 cas
es, 2732 contro
ls), GSTT1 (252
0 cases and 250
8 controls)
 GSTM1
GSTT1
 Show abstract
25443469 Endometrio
sis
 Caucasi
an
 5803 (2,684 end
ometriosis case
s, 3,119 contro
l cases)
Show abstract
25208225 Endometrio
sis
 Chinese
GSTM1
GSTT1
 Show abstract
23979901 Endometrio
sis
96 (50 women di
agnosed with en
dometriosis, 46
women without
endometriosis)
 GSTM1
GSTT1
Show abstract
22017422 Endometrio
sis
 Taiwane
se Han
CYP1A1
CYP1B1
GSTM1
GSTT1
GSTP1
AhR
ARNT
and AhRR
 Show abstract
20504102 Endometrio
sis
 Iranian
 320 (120 patien
ts, 200 healthy
volunteers)
 GSTM1
 Show abstract
15299090 Endometrio
sis
 GSTM1*null genotype, MPO-463*G/A
309 (150 patien
ts with endomet
riosis, 159 pat
ients without e
ndometriosis)
 GSTM1
MPO
 Show abstract
12875700 Endometrio
sis
 Han Chi
nese
 96 (68 women w
ith endometrios
is, 28 without
endometriosis)
 GSTM1
GSTT1
 Show abstract
12754129 Endometrio
sis
156 (76 patient
s with endometr
iosis, 80 contr
ols (surgical p
atients for gyn
ecological prob
lems other than
endometriosis)
)
 GSTM1
 Show abstract
10381818 Endometrio
sis
 NAT2*5 allele French
 137 (36 minimal
/mild endometri
osis, 29 modera
te/severe endom
etriosis, 72 co
ntrols)
 GSTT1
NAT2
GSTM1
 Show abstract
9358003 Endometrio
sis
 French
 122 (50 patient
s with differen
t stages of end
ometriosis, 72
controls)
 GSTM1
 Show abstract