GSS (glutathione synthetase) - Rat Genome Database
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Gene: GSS (glutathione synthetase) Homo sapiens
Analyze
Symbol: GSS
Name: glutathione synthetase
RGD ID: 735330
HGNC Page HGNC
Description: Exhibits anion binding activity; magnesium ion binding activity; and protein homodimerization activity. Predicted to be involved in several processes, including cellular amino acid metabolic process; glutathione biosynthetic process; and response to oxidative stress. Localizes to extracellular exosome. Implicated in Alzheimer's disease and glutathione synthetase deficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: epididymis secretory sperm binding protein Li 64p; epididymis secretory sperm binding protein Li 88n; glutathione synthase; GSH synthetase; GSH-S; GSHS; HEL-S-64p; HEL-S-88n; MGC14098
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2034,928,432 - 34,956,027 (-)EnsemblGRCh38hg38GRCh38
GRCh382034,928,432 - 34,956,027 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372033,516,236 - 33,543,794 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362032,979,897 - 33,007,262 (-)NCBINCBI36hg18NCBI36
Build 342032,979,897 - 33,007,262NCBI
Celera2030,265,329 - 30,292,695 (-)NCBI
Cytogenetic Map20q11.22NCBI
HuRef2030,294,556 - 30,321,979 (-)NCBIHuRef
CHM1_12033,417,456 - 33,445,055 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP,ISO)
(-)-quinic acid  (EXP)
(R)-lipoic acid  (ISO)
1,2-dimethylhydrazine  (ISO)
1,4-benzoquinone  (EXP)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
1H-pyrazole  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-trinitrotoluene  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-acetamidofluorene  (ISO)
2-nitrofluorene  (ISO)
2-tert-butylhydroquinone  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,7-dihydropurine-6-thione  (EXP)
3-chloropropane-1,2-diol  (ISO)
3-methylcholanthrene  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
4-amino-2,6-dinitrotoluene  (ISO)
4-hydroxynon-2-enal  (ISO)
7,12-dimethyltetraphene  (ISO)
acrylamide  (ISO)
aflatoxin B1  (ISO)
alpha-D-galactose  (EXP)
ammonium chloride  (ISO)
Anetholtrithion  (EXP)
arecoline  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
azathioprine  (EXP)
benzo[a]pyrene  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (ISO)
butan-1-ol  (EXP)
cadmium dichloride  (EXP,ISO)
cadmium sulfide  (EXP)
celecoxib  (ISO)
chloroprene  (ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
curcumin  (ISO)
dextran sulfate  (ISO)
dibutyl phthalate  (ISO)
dichlorine  (ISO)
diethyl malate  (ISO)
diethyl maleate  (ISO)
diethylstilbestrol  (ISO)
enilconazole  (ISO)
erdosteine  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
fenamidone  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
furan  (ISO)
galactose  (EXP)
genistein  (EXP)
glafenine  (ISO)
glutathione  (EXP)
Hexachloro-1,3-butadiene  (ISO)
hydrogen peroxide  (EXP)
hydroquinone  (EXP)
hypochlorous acid  (ISO)
iron atom  (EXP)
iron(0)  (EXP)
lead diacetate  (ISO)
leflunomide  (ISO)
lipoic acid  (ISO)
lithocholic acid  (EXP)
LY294002  (EXP)
mercaptopurine  (EXP)
mercury atom  (EXP)
mercury(0)  (EXP)
methapyrilene  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP,ISO)
microcystin-LR  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
N-nitrosomorpholine  (ISO)
naphthalene  (ISO)
nefazodone  (ISO)
nimesulide  (ISO)
nitrogen dioxide  (ISO)
ochratoxin A  (ISO)
oligopeptide  (ISO)
ozone  (ISO)
paracetamol  (ISO)
paraoxon  (EXP)
paraquat  (ISO)
pentachlorophenol  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
PhIP  (ISO)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
purine-6-thiol  (EXP)
quercetin  (ISO)
rotenone  (ISO)
S-adenosyl-L-methioninate  (EXP)
S-adenosyl-L-methionine  (EXP)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
sodium arsenite  (EXP)
sodium fluoride  (ISO)
sunitinib  (ISO)
T-2 toxin  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
triclosan  (EXP)
tris(2-butoxyethyl) phosphate  (ISO)
trovafloxacin  (ISO)
ursodeoxycholic acid  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
zinc oxide  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytosol  (IBA,TAS)
extracellular exosome  (HDA)

Molecular Function

References

Additional References at PubMed
PMID:465367   PMID:1518371   PMID:6112263   PMID:6137189   PMID:7646467   PMID:8825653   PMID:9501919   PMID:10369661   PMID:10450861   PMID:10652368   PMID:10756096   PMID:10861239  
PMID:11167850   PMID:11780052   PMID:12477932   PMID:12638941   PMID:14990577   PMID:15173170   PMID:15489334   PMID:15890065   PMID:17206463   PMID:17234469   PMID:17503480   PMID:17601350  
PMID:18977241   PMID:19056867   PMID:19111905   PMID:19672693   PMID:19913121   PMID:20200426   PMID:20413906   PMID:20439344   PMID:20485444   PMID:20628086   PMID:20800579   PMID:20802163  
PMID:21044950   PMID:21105962   PMID:21683691   PMID:21771585   PMID:21873635   PMID:21988832   PMID:22443383   PMID:22863883   PMID:22939629   PMID:23376485   PMID:23533145   PMID:24323765  
PMID:24480751   PMID:25070563   PMID:25416956   PMID:25851338   PMID:25851806   PMID:26059756   PMID:26344197   PMID:26669244   PMID:26871637   PMID:28849249   PMID:31741433   PMID:31881666  
PMID:32296183   PMID:32694731  


Genomics

Comparative Map Data
GSS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2034,928,432 - 34,956,027 (-)EnsemblGRCh38hg38GRCh38
GRCh382034,928,432 - 34,956,027 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372033,516,236 - 33,543,794 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362032,979,897 - 33,007,262 (-)NCBINCBI36hg18NCBI36
Build 342032,979,897 - 33,007,262NCBI
Celera2030,265,329 - 30,292,695 (-)NCBI
Cytogenetic Map20q11.22NCBI
HuRef2030,294,556 - 30,321,979 (-)NCBIHuRef
CHM1_12033,417,456 - 33,445,055 (-)NCBICHM1_1
Gss
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392155,405,101 - 155,434,730 (-)NCBIGRCm39mm39
GRCm382155,563,181 - 155,592,810 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2155,563,181 - 155,592,810 (-)EnsemblGRCm38mm10GRCm38
MGSCv372155,388,919 - 155,418,442 (-)NCBIGRCm37mm9NCBIm37
MGSCv362155,254,624 - 155,284,147 (-)NCBImm8
Celera2161,495,432 - 161,524,969 (-)NCBICelera
Cytogenetic Map2H1NCBI
Gss
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.03151,076,254 - 151,106,557 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3151,076,254 - 151,106,557 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03157,443,738 - 157,474,042 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43146,057,517 - 146,087,820 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.13145,963,138 - 145,993,442 (-)NCBI
Celera3142,772,407 - 142,802,700 (-)NCBICelera
Cytogenetic Map3q42NCBI
Gss
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542226,427,581 - 26,463,781 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542226,427,581 - 26,483,380 (+)NCBIChiLan1.0ChiLan1.0
GSS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12032,381,745 - 32,409,327 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2032,381,745 - 32,409,297 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02031,256,734 - 31,284,356 (-)NCBIMhudiblu_PPA_v0panPan3
GSS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl2423,901,045 - 23,997,286 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.12423,973,807 - 24,000,281 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Gss
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365615,765,637 - 5,793,951 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GSS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1738,312,720 - 38,342,304 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11738,316,199 - 38,342,253 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21743,511,098 - 43,539,281 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GSS
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1239,230,629 - 39,258,511 (-)NCBI
ChlSab1.1 Ensembl239,230,487 - 39,254,648 (-)Ensembl
Gss
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248424,445,015 - 4,470,124 (+)NCBI

Position Markers
A006I18  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372033,516,255 - 33,516,531UniSTSGRCh37
Build 362032,979,916 - 32,980,192RGDNCBI36
Celera2030,265,348 - 30,265,624RGD
Cytogenetic Map20q11.2UniSTS
HuRef2030,294,575 - 30,294,851UniSTS
GeneMap99-GB4 RH Map20200.16UniSTS
MARC_11817-11818:1029268323:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372033,516,715 - 33,517,351UniSTSGRCh37
Celera2030,265,808 - 30,266,444UniSTS
HuRef2030,295,035 - 30,295,671UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:918
Count of miRNA genes:459
Interacting mature miRNAs:507
Transcripts:ENST00000216951, ENST00000451957, ENST00000541098
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2437 2609 1720 618 1695 459 4280 2009 3487 417 1458 1613 175 1 1202 2712 6 2
Low 2 382 6 6 256 6 77 188 247 2 2 2 76
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB459500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF485789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU076581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC328543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ074975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU668322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU794618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U34683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000451957   ⟹   ENSP00000407517
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,928,828 - 34,951,852 (-)Ensembl
RefSeq Acc Id: ENST00000642493   ⟹   ENSP00000493524
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,932,026 - 34,955,756 (-)Ensembl
RefSeq Acc Id: ENST00000642498   ⟹   ENSP00000493631
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,928,473 - 34,955,783 (-)Ensembl
RefSeq Acc Id: ENST00000642538   ⟹   ENSP00000493927
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,928,975 - 34,955,788 (-)Ensembl
RefSeq Acc Id: ENST00000643188   ⟹   ENSP00000493903
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,928,479 - 34,956,027 (-)Ensembl
RefSeq Acc Id: ENST00000643203
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,951,482 - 34,955,808 (-)Ensembl
RefSeq Acc Id: ENST00000643271   ⟹   ENSP00000496125
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,942,577 - 34,952,843 (-)Ensembl
RefSeq Acc Id: ENST00000643443   ⟹   ENSP00000495572
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,928,806 - 34,955,755 (-)Ensembl
RefSeq Acc Id: ENST00000643502   ⟹   ENSP00000494819
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,928,600 - 34,942,980 (-)Ensembl
RefSeq Acc Id: ENST00000643628
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,949,429 - 34,955,783 (-)Ensembl
RefSeq Acc Id: ENST00000643690
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,942,661 - 34,955,783 (-)Ensembl
RefSeq Acc Id: ENST00000643908
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,928,473 - 34,955,778 (-)Ensembl
RefSeq Acc Id: ENST00000644197
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,942,626 - 34,955,790 (-)Ensembl
RefSeq Acc Id: ENST00000644538
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,928,750 - 34,946,729 (-)Ensembl
RefSeq Acc Id: ENST00000644608   ⟹   ENSP00000493500
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,951,762 - 34,955,798 (-)Ensembl
RefSeq Acc Id: ENST00000644694
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,929,092 - 34,931,583 (-)Ensembl
RefSeq Acc Id: ENST00000644793   ⟹   ENSP00000495750
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,928,479 - 34,955,635 (-)Ensembl
RefSeq Acc Id: ENST00000645102   ⟹   ENSP00000495829
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,942,944 - 34,952,317 (-)Ensembl
RefSeq Acc Id: ENST00000645328   ⟹   ENSP00000495404
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,928,571 - 34,937,009 (-)Ensembl
RefSeq Acc Id: ENST00000645408   ⟹   ENSP00000496142
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,929,405 - 34,942,578 (-)Ensembl
RefSeq Acc Id: ENST00000645723
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,928,473 - 34,955,643 (-)Ensembl
RefSeq Acc Id: ENST00000646405   ⟹   ENSP00000493744
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,928,444 - 34,955,783 (-)Ensembl
RefSeq Acc Id: ENST00000646497
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,932,013 - 34,946,702 (-)Ensembl
RefSeq Acc Id: ENST00000646502
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,933,596 - 34,955,409 (-)Ensembl
RefSeq Acc Id: ENST00000646512
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,928,492 - 34,951,762 (-)Ensembl
RefSeq Acc Id: ENST00000646735   ⟹   ENSP00000493763
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,928,433 - 34,955,785 (-)Ensembl
RefSeq Acc Id: ENST00000646766   ⟹   ENSP00000494333
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,935,614 - 34,951,864 (-)Ensembl
RefSeq Acc Id: ENST00000651619   ⟹   ENSP00000498303
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,928,432 - 34,955,806 (-)Ensembl
RefSeq Acc Id: NM_000178   ⟹   NP_000169
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382034,928,432 - 34,955,806 (-)NCBI
GRCh372033,516,236 - 33,543,794 (-)NCBI
Build 362032,979,897 - 33,007,262 (-)NCBI Archive
HuRef2030,294,556 - 30,321,979 (-)ENTREZGENE
CHM1_12033,417,456 - 33,444,845 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322494   ⟹   NP_001309423
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382034,928,433 - 34,956,027 (-)NCBI
CHM1_12033,417,456 - 33,445,055 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322495   ⟹   NP_001309424
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382034,928,433 - 34,955,635 (-)NCBI
CHM1_12033,417,456 - 33,444,663 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000169   ⟸   NM_000178
- UniProtKB: P48637 (UniProtKB/Swiss-Prot),   V9HWJ1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309423   ⟸   NM_001322494
- UniProtKB: P48637 (UniProtKB/Swiss-Prot),   V9HWJ1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309424   ⟸   NM_001322495
- UniProtKB: P48637 (UniProtKB/Swiss-Prot),   V9HWJ1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000407517   ⟸   ENST00000451957
RefSeq Acc Id: ENSP00000498303   ⟸   ENST00000651619
RefSeq Acc Id: ENSP00000493631   ⟸   ENST00000642498
RefSeq Acc Id: ENSP00000493524   ⟸   ENST00000642493
RefSeq Acc Id: ENSP00000493927   ⟸   ENST00000642538
RefSeq Acc Id: ENSP00000496125   ⟸   ENST00000643271
RefSeq Acc Id: ENSP00000493903   ⟸   ENST00000643188
RefSeq Acc Id: ENSP00000494819   ⟸   ENST00000643502
RefSeq Acc Id: ENSP00000495572   ⟸   ENST00000643443
RefSeq Acc Id: ENSP00000493500   ⟸   ENST00000644608
RefSeq Acc Id: ENSP00000495750   ⟸   ENST00000644793
RefSeq Acc Id: ENSP00000495829   ⟸   ENST00000645102
RefSeq Acc Id: ENSP00000496142   ⟸   ENST00000645408
RefSeq Acc Id: ENSP00000495404   ⟸   ENST00000645328
RefSeq Acc Id: ENSP00000493744   ⟸   ENST00000646405
RefSeq Acc Id: ENSP00000494333   ⟸   ENST00000646766
RefSeq Acc Id: ENSP00000493763   ⟸   ENST00000646735
Protein Domains
GSH_synthase

Promoters
RGD ID:6798824
Promoter ID:HG_KWN:39161
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_020884,   OTTHUMT00000078821,   UC002XBH.1,   UC010GEZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362033,007,021 - 33,007,521 (-)MPROMDB
RGD ID:6851950
Promoter ID:EP73781
Type:initiation region
Name:HS_GSS
Description:Glutathione synthetase.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 362033,007,265 - 33,007,325EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GSS, 1-BP DEL, NT3/4G deletion Gluthathione synthetase deficiency [RCV000009052] Chr20:20q11.2 pathogenic
NM_000178.4(GSS):c.73C>G (p.Arg25Gly) single nucleotide variant Gluthathione synthetase deficiency [RCV000547918] Chr20:34951780 [GRCh38]
Chr20:33539583 [GRCh37]
Chr20:20q11.22
uncertain significance
NM_000178.4(GSS):c.491G>A (p.Arg164Gln) single nucleotide variant Gluthathione synthetase deficiency [RCV000009051] Chr20:34942488 [GRCh38]
Chr20:33530291 [GRCh37]
Chr20:20q11.22
pathogenic
NM_000178.4(GSS):c.799C>T (p.Arg267Trp) single nucleotide variant Gluthathione synthetase deficiency [RCV000009053] Chr20:34935611 [GRCh38]
Chr20:33523414 [GRCh37]
Chr20:20q11.22
pathogenic
NM_000178.4(GSS):c.847C>T (p.Arg283Cys) single nucleotide variant Gluthathione synthetase deficiency [RCV000009054] Chr20:34932121 [GRCh38]
Chr20:33519924 [GRCh37]
Chr20:20q11.22
pathogenic
NM_000178.4(GSS):c.373C>T (p.Arg125Cys) single nucleotide variant Gluthathione synthetase deficiency [RCV000009055] Chr20:34942606 [GRCh38]
Chr20:33530409 [GRCh37]
Chr20:20q11.22
pathogenic
NM_000178.4(GSS):c.941C>T (p.Pro314Leu) single nucleotide variant Gluthathione synthetase deficiency [RCV000009056]|not specified [RCV000601337] Chr20:34932027 [GRCh38]
Chr20:33519830 [GRCh37]
Chr20:20q11.22
pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000178.4(GSS):c.656A>G (p.Asp219Gly) single nucleotide variant Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to [RCV000009057]|Gluthathione synthetase deficiency [RCV000984989] Chr20:34936976 [GRCh38]
Chr20:33524779 [GRCh37]
Chr20:20q11.22
pathogenic
NM_000178.2(GSS):c.130-2029G>T single nucleotide variant Lung cancer [RCV000101543] Chr20:34948127 [GRCh38]
Chr20:33535930 [GRCh37]
Chr20:20q11.22
uncertain significance
GRCh38/hg38 20q11.22-12(chr20:34541747-39663219)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052766]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052766]|See cases [RCV000052766] Chr20:34541747..39663219 [GRCh38]
Chr20:33129551..38291861 [GRCh37]
Chr20:32593212..37725275 [NCBI36]
Chr20:20q11.22-12
pathogenic
GRCh38/hg38 20q11.22-13.11(chr20:34249453-43359749)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053002]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053002]|See cases [RCV000053002] Chr20:34249453..43359749 [GRCh38]
Chr20:32837259..41988389 [GRCh37]
Chr20:32300920..41421803 [NCBI36]
Chr20:20q11.22-13.11
pathogenic
GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3 copy number gain See cases [RCV000052999] Chr20:9811433..39316956 [GRCh38]
Chr20:9792081..37945599 [GRCh37]
Chr20:9740081..37379013 [NCBI36]
Chr20:20p12.2-q12
pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33
pathogenic
GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1 copy number loss See cases [RCV000135440] Chr20:33432363..36821881 [GRCh38]
Chr20:32020169..35450284 [GRCh37]
Chr20:31483830..34883698 [NCBI36]
Chr20:20q11.21-11.23
pathogenic
GRCh38/hg38 20q11.22(chr20:34796981-34952986)x3 copy number gain See cases [RCV000138924] Chr20:34796981..34952986 [GRCh38]
Chr20:33384784..33540789 [GRCh37]
Chr20:32848445..33004450 [NCBI36]
Chr20:20q11.22
likely benign
GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3 copy number gain See cases [RCV000141833] Chr20:32062768..35906606 [GRCh38]
Chr20:30650571..34494528 [GRCh37]
Chr20:30114232..33957942 [NCBI36]
Chr20:20q11.21-11.23
pathogenic
NM_000178.4(GSS):c.130G>T (p.Val44Leu) single nucleotide variant not provided [RCV000756217] Chr20:34946098 [GRCh38]
Chr20:33533901 [GRCh37]
Chr20:20q11.22
uncertain significance
NM_000178.4(GSS):c.596A>G (p.Tyr199Cys) single nucleotide variant not provided [RCV000756219] Chr20:34941725 [GRCh38]
Chr20:33529528 [GRCh37]
Chr20:20q11.22
uncertain significance
NM_000178.4(GSS):c.1388C>T (p.Ala463Val) single nucleotide variant not provided [RCV000224278] Chr20:34928865 [GRCh38]
Chr20:33516668 [GRCh37]
Chr20:20q11.22
uncertain significance
NM_000178.4(GSS):c.275+20T>G single nucleotide variant not provided [RCV000590365]|not specified [RCV000253772] Chr20:34945933 [GRCh38]
Chr20:33533736 [GRCh37]
Chr20:20q11.22
benign
NM_000178.4(GSS):c.275+20del deletion not specified [RCV000249218] Chr20:34945933 [GRCh38]
Chr20:33533736 [GRCh37]
Chr20:20q11.22
benign
NM_000178.4(GSS):c.1260C>G (p.Val420=) single nucleotide variant Gluthathione synthetase deficiency [RCV000274182] Chr20:34929442 [GRCh38]
Chr20:33517245 [GRCh37]
Chr20:20q11.22
uncertain significance
NM_000178.4(GSS):c.1253G>A (p.Arg418Gln) single nucleotide variant Gluthathione synthetase deficiency [RCV000319674]|not provided [RCV000756218] Chr20:34929449 [GRCh38]
Chr20:33517252 [GRCh37]
Chr20:20q11.22
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000178.4(GSS):c.768-3C>T single nucleotide variant Gluthathione synthetase deficiency [RCV000320565]|not specified [RCV000421573] Chr20:34935645 [GRCh38]
Chr20:33523448 [GRCh37]
Chr20:20q11.22
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000178.4(GSS):c.-16G>A single nucleotide variant Gluthathione synthetase deficiency [RCV000391180]|not specified [RCV000603494] Chr20:34955734 [GRCh38]
Chr20:33543537 [GRCh37]
Chr20:20q11.22
likely benign|uncertain significance
NM_000178.4(GSS):c.1203C>T (p.Ile401=) single nucleotide variant Gluthathione synthetase deficiency [RCV000355838] Chr20:34929499 [GRCh38]
Chr20:33517302 [GRCh37]
Chr20:20q11.22
uncertain significance
NM_000178.4(GSS):c.-80G>C single nucleotide variant Gluthathione synthetase deficiency [RCV000356805] Chr20:34955798 [GRCh38]
Chr20:33543601 [GRCh37]
Chr20:20q11.22
uncertain significance
NM_000178.4(GSS):c.-63G>C single nucleotide variant Gluthathione synthetase deficiency [RCV000311385] Chr20:34955781 [GRCh38]
Chr20:33543584 [GRCh37]
Chr20:20q11.22
likely benign|uncertain significance
NM_000178.4(GSS):c.*181C>T single nucleotide variant Gluthathione synthetase deficiency [RCV000363016] Chr20:34928647 [GRCh38]
Chr20:33516450 [GRCh37]
Chr20:20q11.22
uncertain significance
NM_000178.4(GSS):c.*69G>T single nucleotide variant Gluthathione synthetase deficiency [RCV000313996] Chr20:34928759 [GRCh38]
Chr20:33516562 [GRCh37]
Chr20:20q11.22
likely benign|uncertain significance
NM_000178.4(GSS):c.*2G>A single nucleotide variant Gluthathione synthetase deficiency [RCV000368789] Chr20:34928826 [GRCh38]
Chr20:33516629 [GRCh37]
Chr20:20q11.22
benign|uncertain significance
NM_000178.4(GSS):c.834+4G>C single nucleotide variant Gluthathione synthetase deficiency [RCV000284320]|not specified [RCV000432158] Chr20:34935572 [GRCh38]
Chr20:33523375 [GRCh37]
Chr20:20q11.22
likely benign|uncertain significance
NM_000178.4(GSS):c.957G>A (p.Met319Ile) single nucleotide variant Gluthathione synthetase deficiency [RCV000378758] Chr20:34932011 [GRCh38]
Chr20:33519814 [GRCh37]
Chr20:20q11.22
uncertain significance
NM_000178.4(GSS):c.448G>A (p.Ala150Thr) single nucleotide variant Gluthathione synthetase deficiency [RCV000384492] Chr20:34942531 [GRCh38]
Chr20:33530334 [GRCh37]
Chr20:20q11.22
uncertain significance
NM_000178.4(GSS):c.1186A>G (p.Ile396Val) single nucleotide variant Gluthathione synthetase deficiency [RCV000261146] Chr20:34929516 [GRCh38]
Chr20:33517319 [GRCh37]
Chr20:20q11.22
uncertain significance
NM_000178.4(GSS):c.4del (p.Ala2fs) deletion Gluthathione synthetase deficiency [RCV000345182] Chr20:34951849 [GRCh38]
Chr20:33539652 [GRCh37]
Chr20:20q11.22
conflicting interpretations of pathogenicity|uncertain significance
NM_000178.4(GSS):c.1158G>A (p.Leu386=) single nucleotide variant Gluthathione synthetase deficiency [RCV000316359] Chr20:34929544 [GRCh38]
Chr20:33517347 [GRCh37]
Chr20:20q11.22
uncertain significance
NM_000178.4(GSS):c.*90A>G single nucleotide variant Gluthathione synthetase deficiency [RCV000403814] Chr20:34928738 [GRCh38]
Chr20:33516541 [GRCh37]
Chr20:20q11.22
benign|uncertain significance
NM_000178.4(GSS):c.-46A>G single nucleotide variant Gluthathione synthetase deficiency [RCV000402933]|not specified [RCV000420233] Chr20:34955764 [GRCh38]
Chr20:33543567 [GRCh37]
Chr20:20q11.22
likely benign|uncertain significance
NM_000178.4(GSS):c.*391A>T single nucleotide variant Gluthathione synthetase deficiency [RCV000404151] Chr20:34928437 [GRCh38]
Chr20:33516240 [GRCh37]
Chr20:20q11.22
uncertain significance
NM_000178.4(GSS):c.-29T>A single nucleotide variant Gluthathione synthetase deficiency [RCV000350582] Chr20:34955747 [GRCh38]
Chr20:33543550 [GRCh37]
Chr20:20q11.22
uncertain significance
NM_000178.4(GSS):c.-18A>G single nucleotide variant Gluthathione synthetase deficiency [RCV000296189] Chr20:34955736 [GRCh38]
Chr20:33543539 [GRCh37]
Chr20:20q11.22
uncertain significance
NM_000178.4(GSS):c.*390G>T single nucleotide variant Gluthathione synthetase deficiency [RCV000308298] Chr20:34928438 [GRCh38]
Chr20:33516241 [GRCh37]
Chr20:20q11.22
uncertain significance
NM_000178.4(GSS):c.-28C>A single nucleotide variant not specified [RCV000427205] Chr20:34955746 [GRCh38]
Chr20:33543549 [GRCh37]
Chr20:20q11.22
likely benign
NM_000178.4(GSS):c.399C>T (p.Ser133=) single nucleotide variant not specified [RCV000442149] Chr20:34942580 [GRCh38]
Chr20:33530383 [GRCh37]
Chr20:20q11.22
likely benign
NM_000178.4(GSS):c.1302-3T>C single nucleotide variant not specified [RCV000428154] Chr20:34928954 [GRCh38]
Chr20:33516757 [GRCh37]
Chr20:20q11.22
likely benign
NM_000178.4(GSS):c.981T>C (p.Ala327=) single nucleotide variant not specified [RCV000421478] Chr20:34931987 [GRCh38]
Chr20:33519790 [GRCh37]
Chr20:20q11.22
likely benign
NM_000178.4(GSS):c.468C>T (p.Ala156=) single nucleotide variant Gluthathione synthetase deficiency [RCV000877193]|not specified [RCV000419354] Chr20:34942511 [GRCh38]
Chr20:33530314 [GRCh37]
Chr20:20q11.22
likely benign
NM_000178.4(GSS):c.1159A>C (p.Lys387Gln) single nucleotide variant not provided [RCV000483675] Chr20:34929543 [GRCh38]
Chr20:33517346 [GRCh37]
Chr20:20q11.22
uncertain significance
NM_000178.4(GSS):c.911C>T (p.Thr304Ile) single nucleotide variant not specified [RCV000507898] Chr20:34932057 [GRCh38]
Chr20:33519860 [GRCh37]
Chr20:20q11.22
uncertain significance
NM_000178.4(GSS):c.3G>A (p.Met1Ile) single nucleotide variant not provided [RCV000493170] Chr20:34951850 [GRCh38]
Chr20:33539653 [GRCh37]
Chr20:20q11.22
likely pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
NM_000178.4(GSS):c.816T>G (p.Pro272=) single nucleotide variant Gluthathione synthetase deficiency [RCV000874962]|not specified [RCV000600178] Chr20:34935594 [GRCh38]
Chr20:33523397 [GRCh37]
Chr20:20q11.22
benign|likely benign|conflicting interpretations of pathogenicity
NM_000178.4(GSS):c.246C>T (p.Asn82=) single nucleotide variant not provided [RCV000904081]|not specified [RCV000607116] Chr20:34945982 [GRCh38]
Chr20:33533785 [GRCh37]
Chr20:20q11.22
likely benign
NM_000178.4(GSS):c.1362C>T (p.Ile454=) single nucleotide variant not specified [RCV000615994] Chr20:34928891 [GRCh38]
Chr20:33516694 [GRCh37]
Chr20:20q11.22
likely benign
NM_000178.4(GSS):c.1056C>T (p.Ala352=) single nucleotide variant not specified [RCV000607344] Chr20:34931391 [GRCh38]
Chr20:33519194 [GRCh37]
Chr20:20q11.22
likely benign
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
NM_000178.4(GSS):c.-9+5G>A single nucleotide variant Gluthathione synthetase deficiency [RCV000587316] Chr20:34955722 [GRCh38]
Chr20:33543525 [GRCh37]
Chr20:20q11.22
pathogenic
NM_000178.4(GSS):c.462C>T (p.Gly154=) single nucleotide variant not specified [RCV000606086] Chr20:34942517 [GRCh38]
Chr20:33530320 [GRCh37]
Chr20:20q11.22
likely benign
NC_000020.10:g.(?_31996293)_(33761838_?)del deletion Long QT syndrome [RCV000708204] Chr20:31996293..33761838 [GRCh37]
Chr20:20q11.21-11.22
uncertain significance
NM_000178.4(GSS):c.754C>T (p.Arg252Ter) single nucleotide variant Gluthathione synthetase deficiency [RCV000778631] Chr20:34936776 [GRCh38]
Chr20:33524579 [GRCh37]
Chr20:20q11.22
uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20q11.22(chr20:33449560-33570007)x3 copy number gain not provided [RCV000741182] Chr20:33449560..33570007 [GRCh37]
Chr20:20q11.22
benign
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33
pathogenic
NM_000178.4(GSS):c.973C>T (p.Pro325Ser) single nucleotide variant Gluthathione synthetase deficiency [RCV000865382] Chr20:34931995 [GRCh38]
Chr20:33519798 [GRCh37]
Chr20:20q11.22
likely benign
NM_000178.4(GSS):c.1029+4C>T single nucleotide variant not provided [RCV000827181] Chr20:34931935 [GRCh38]
Chr20:33519738 [GRCh37]
Chr20:20q11.22
likely benign
NM_000178.4(GSS):c.1054G>A (p.Ala352Thr) single nucleotide variant Gluthathione synthetase deficiency [RCV000805849] Chr20:34931393 [GRCh38]
Chr20:33519196 [GRCh37]
Chr20:20q11.22
uncertain significance
NM_000178.4(GSS):c.631C>G (p.Gln211Glu) single nucleotide variant Gluthathione synthetase deficiency [RCV000809202] Chr20:34937001 [GRCh38]
Chr20:33524804 [GRCh37]
Chr20:20q11.22
uncertain significance
NM_000178.4(GSS):c.*185C>T single nucleotide variant Gluthathione synthetase deficiency [RCV001137369] Chr20:34928643 [GRCh38]
Chr20:33516446 [GRCh37]
Chr20:20q11.22
uncertain significance
NM_000178.4(GSS):c.*183C>T single nucleotide variant Gluthathione synthetase deficiency [RCV001137370] Chr20:34928645 [GRCh38]
Chr20:33516448 [GRCh37]
Chr20:20q11.22
uncertain significance
NM_000178.4(GSS):c.707G>A (p.Arg236Gln) single nucleotide variant Gluthathione synthetase deficiency [RCV000981770] Chr20:34936823 [GRCh38]
Chr20:33524626 [GRCh37]
Chr20:20q11.22
likely benign
NM_000178.4(GSS):c.1301+14G>C single nucleotide variant not provided [RCV000840734] Chr20:34929387 [GRCh38]
Chr20:33517190 [GRCh37]
Chr20:20q11.22
likely benign
GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3 copy number gain not provided [RCV000849735] Chr20:29833608..35087952 [GRCh37]
Chr20:20q11.21-11.23
pathogenic
NM_000178.4(GSS):c.368_382del (p.Leu123_Tyr128delinsHis) deletion Gluthathione synthetase deficiency [RCV001226368] Chr20:34942597..34942611 [GRCh38]
Chr20:33530400..33530414 [GRCh37]
Chr20:20q11.22
uncertain significance
NM_000178.4(GSS):c.*20G>C single nucleotide variant Gluthathione synthetase deficiency [RCV001139606] Chr20:34928808 [GRCh38]
Chr20:33516611 [GRCh37]
Chr20:20q11.22
uncertain significance
NM_000178.4(GSS):c.*31C>T single nucleotide variant Gluthathione synthetase deficiency [RCV001137372] Chr20:34928797 [GRCh38]
Chr20:33516600 [GRCh37]
Chr20:20q11.22
uncertain significance
NM_000178.4(GSS):c.1121T>G (p.Leu374Arg) single nucleotide variant Gluthathione synthetase deficiency [RCV001140370] Chr20:34929581 [GRCh38]
Chr20:33517384 [GRCh37]
Chr20:20q11.22
uncertain significance
NM_000178.4(GSS):c.394C>T (p.Arg132Cys) single nucleotide variant Gluthathione synthetase deficiency [RCV001207775] Chr20:34942585 [GRCh38]
Chr20:33530388 [GRCh37]
Chr20:20q11.22
uncertain significance
NM_000178.4(GSS):c.126G>A (p.Ser42=) single nucleotide variant Gluthathione synthetase deficiency [RCV001220231] Chr20:34951727 [GRCh38]
Chr20:33539530 [GRCh37]
Chr20:20q11.22
uncertain significance
NM_000178.4(GSS):c.415G>A (p.Ala139Thr) single nucleotide variant Gluthathione synthetase deficiency [RCV001246738] Chr20:34942564 [GRCh38]
Chr20:33530367 [GRCh37]
Chr20:20q11.22
uncertain significance
NM_000178.4(GSS):c.-45G>C single nucleotide variant Gluthathione synthetase deficiency [RCV001142230] Chr20:34955763 [GRCh38]
Chr20:33543566 [GRCh37]
Chr20:20q11.22
uncertain significance
NM_000178.4(GSS):c.1030-1G>C single nucleotide variant Gluthathione synthetase deficiency [RCV001069940] Chr20:34931418 [GRCh38]
Chr20:33519221 [GRCh37]
Chr20:20q11.22
likely pathogenic
NM_000178.4(GSS):c.*68G>T single nucleotide variant Gluthathione synthetase deficiency [RCV001137371] Chr20:34928760 [GRCh38]
Chr20:33516563 [GRCh37]
Chr20:20q11.22
uncertain significance
NM_000178.4(GSS):c.1126G>A (p.Gly376Arg) single nucleotide variant Gluthathione synthetase deficiency [RCV001139607] Chr20:34929576 [GRCh38]
Chr20:33517379 [GRCh37]
Chr20:20q11.22
uncertain significance
NM_000178.4(GSS):c.14G>T (p.Trp5Leu) single nucleotide variant Gluthathione synthetase deficiency [RCV001217289] Chr20:34951839 [GRCh38]
Chr20:33539642 [GRCh37]
Chr20:20q11.22
uncertain significance
NM_000178.4(GSS):c.*323G>A single nucleotide variant Gluthathione synthetase deficiency [RCV001137368] Chr20:34928505 [GRCh38]
Chr20:33516308 [GRCh37]
Chr20:20q11.22
uncertain significance
NM_000178.4(GSS):c.709C>T (p.Arg237Ter) single nucleotide variant Gluthathione synthetase deficiency [RCV001042779] Chr20:34936821 [GRCh38]
Chr20:33524624 [GRCh37]
Chr20:20q11.22
pathogenic|likely pathogenic
NM_000178.4(GSS):c.602C>T (p.Ser201Leu) single nucleotide variant Gluthathione synthetase deficiency [RCV001142229] Chr20:34941719 [GRCh38]
Chr20:33529522 [GRCh37]
Chr20:20q11.22
uncertain significance
NM_000178.4(GSS):c.988C>T (p.Arg330Cys) single nucleotide variant Gluthathione synthetase deficiency [RCV001140371] Chr20:34931980 [GRCh38]
Chr20:33519783 [GRCh37]
Chr20:20q11.22
likely benign
NM_000178.4(GSS):c.787G>A (p.Val263Met) single nucleotide variant Gluthathione synthetase deficiency [RCV001140372] Chr20:34935623 [GRCh38]
Chr20:33523426 [GRCh37]
Chr20:20q11.22
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4624 AgrOrtholog
COSMIC GSS COSMIC
Ensembl Genes ENSG00000100983 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000407517 UniProtKB/Swiss-Prot
  ENSP00000493500 UniProtKB/TrEMBL
  ENSP00000493524 UniProtKB/TrEMBL
  ENSP00000493631 UniProtKB/TrEMBL
  ENSP00000493744 UniProtKB/TrEMBL
  ENSP00000493763 UniProtKB/Swiss-Prot
  ENSP00000493903 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000493927 UniProtKB/TrEMBL
  ENSP00000494333 UniProtKB/TrEMBL
  ENSP00000494819 UniProtKB/TrEMBL
  ENSP00000495404 UniProtKB/TrEMBL
  ENSP00000495572 UniProtKB/TrEMBL
  ENSP00000495750 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000495829 UniProtKB/TrEMBL
  ENSP00000496125 UniProtKB/TrEMBL
  ENSP00000496142 UniProtKB/TrEMBL
  ENSP00000498303 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000451957 UniProtKB/Swiss-Prot
  ENST00000642493 UniProtKB/TrEMBL
  ENST00000642498 UniProtKB/TrEMBL
  ENST00000642538 UniProtKB/TrEMBL
  ENST00000643188 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000643271 UniProtKB/TrEMBL
  ENST00000643443 UniProtKB/TrEMBL
  ENST00000643502 UniProtKB/TrEMBL
  ENST00000644608 UniProtKB/TrEMBL
  ENST00000644793 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000645102 UniProtKB/TrEMBL
  ENST00000645328 UniProtKB/TrEMBL
  ENST00000645408 UniProtKB/TrEMBL
  ENST00000646405 UniProtKB/TrEMBL
  ENST00000646735 UniProtKB/Swiss-Prot
  ENST00000646766 UniProtKB/TrEMBL
  ENST00000651619 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.1080.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.1490.50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.1490.80 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.1760 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000100983 GTEx
HGNC ID HGNC:4624 ENTREZGENE
Human Proteome Map GSS Human Proteome Map
InterPro Glutathione_synthase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glutathione_synthase_a-hlx UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glutathione_synthase_C_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glutathione_synthase_N_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GSH-S_sub-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GSH_synth_subst-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PreATP-grasp_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2937 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2937 ENTREZGENE
OMIM 231900 OMIM
  266130 OMIM
  601002 OMIM
PANTHER PTHR11130 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam GSH_synth_ATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GSH_synthase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB GSS RGD, PharmGKB
PIRSF GSHase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52440 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs glut_syn_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.82327 ENTREZGENE
UniProt A0A0S2Z4J7_HUMAN UniProtKB/TrEMBL
  A0A2R8Y2F2_HUMAN UniProtKB/TrEMBL
  A0A2R8Y2X9_HUMAN UniProtKB/TrEMBL
  A0A2R8Y430_HUMAN UniProtKB/TrEMBL
  A0A2R8Y446_HUMAN UniProtKB/TrEMBL
  A0A2R8Y4V9_HUMAN UniProtKB/TrEMBL
  A0A2R8Y5T7_HUMAN UniProtKB/TrEMBL
  A0A2R8Y6Q7_HUMAN UniProtKB/TrEMBL
  A0A2R8Y6Y6_HUMAN UniProtKB/TrEMBL
  A0A2R8Y790_HUMAN UniProtKB/TrEMBL
  A0A2R8Y7I7_HUMAN UniProtKB/TrEMBL
  A0A2R8YF34_HUMAN UniProtKB/TrEMBL
  GSHB_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  V9HWJ1 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B2R697 UniProtKB/Swiss-Prot
  B6F210 UniProtKB/Swiss-Prot
  E1P5P9 UniProtKB/Swiss-Prot
  Q4TTD9 UniProtKB/Swiss-Prot