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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

GSS Gene

protein-coding GIFtS: 66
GCID: GC20M033517

glutathione synthetase

Explore 40 diseases affiliated with
GSS via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Glutathione Synthetase¹ ²
Glutathione Synthase² ³
GSH-S² ³
GSH Synthetase² ³
EC 6.3.2.3³ ⁸
GSHS² ⁵

External Ids:	HGNC: 4624¹	Entrez Gene: 2937²	Ensembl: ENSG00000100983⁷	OMIM: 601002⁵	UniProtKB: P48637³

Export aliases for GSS gene to outside databases

Previous GC identifers: GC20M033274 GC20M034184 GC20M034232 GC20M034233 GC20M032980 GC20M030294

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

Entrez Gene summary for GSS:

Glutathione is important for a variety of biological functions, including protection of cells from oxidative damage by

free radicals, detoxification of xenobiotics, and membrane transport. The protein encoded by this gene functions as a

homodimer to catalyze the second step of glutathione biosynthesis, which is the ATP-dependent conversion of

gamma-L-glutamyl-L-cysteine to glutathione. Defects in this gene are a cause of glutathione synthetase deficiency.

(provided by RefSeq, Jul 2008)

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000020.10 NC_018931.1 NT_011362.10

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the GSS gene promoter:
PPAR-alpha AML1a USF-1 STAT3 Ik-3 HNF-4alpha1 Arnt
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: GSS promoter sequence

Search SABiosciences Chromatin IP Primers for GSS

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GSS

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

Entrez Gene cytogenetic band: 20q11.2 Ensembl cytogenetic band: 20q11.22 HGNC cytogenetic band: 20q11.2

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

GeneLoc information about chromosome 20 GeneLoc Exon Structure

GeneLoc location for GC20M033517: view genomic region (about GC identifiers)

Start:	33,516,236 bp from pter	End:	33,543,620 bp from pter
Size:	27,385 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: GSHB_HUMAN, P48637 (See protein sequence)

Recommended Name: Glutathione synthetase

Size: 474 amino acids; 52385 Da

Cofactor: Binds 1 magnesium ion per subunit

Subunit: Homodimer

1 PDB 3D structure from and Proteopedia for GSS:

2HGS (3D)

Secondary accessions: B2R697 E1P5P9 Q4TTD9

Explore the universe of human proteins at neXtProt for GSS: NX_P48637

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P48637

4/12 DME Specific Peptides for GSS (P48637) (see all 12)

ALKQIEINT

KPQREGGGNN

NCLLRPGSPA

DRALAEGVLLR

GSS Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000169.1

ENSEMBL proteins:

ENSP00000216951 ENSP00000407517 ENSP00000439744

Reactome Protein details: P48637
Human Recombinant Protein Products for GSS:

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	Novus Biologicals GSS Proteins Novus Biologicals GSS Lysate
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for GSS
	Uscn Proteins for GSS

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005625	soluble fraction	--	--
GO:0005829	cytosol	TAS	--

GSS for ontologies About GeneDecksing

GSS Antibody Products:

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	Novus Biologicals GSS Antibodies
	Abcam antibodies for GSS
	Uscn Antibodies for GSS
	Search ThermoFisher Antibodies for GSS

Assay Products for GSS:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
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	GenScript Custom Assay Services for GSS
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for GSS

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

GSS for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR014049 Glutathione_synthase_N_euk

IPR014042 Glutathione_synthase_a-hlx_euk

IPR016185 PreATP-grasp_dom

IPR014709 Glutathione_synthase_dom

IPR004887 Glutathione_synth_subst-bd_euk

Graphical View of Domain Structure for InterPro Entry P48637

ProtoNet protein and cluster: P48637

1 Blocks protein family: IPB004887 Eukaryotic glutathione synthase

UniProtKB/Swiss-Prot: GSHB_HUMAN, P48637

Similarity: Belongs to the eukaryotic GSH synthase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: GSHB_HUMAN, P48637

Catalytic activity: ATP + gamma-L-glutamyl-L-cysteine + glycine = ADP + phosphate + glutathione

Genatlas biochemistry entry for GSS:

glutathione synthetase,52.4kDa

Enzyme Number (IUBMB): EC 6.3.2.3¹ ²

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000287	magnesium ion binding	IDA	10369661
GO:0004363	glutathione synthase activity	TAS	--
GO:0005524	ATP binding	IDA	10369661
GO:0016594	glycine binding	IEA	--
GO:0042277	peptide binding	--	--

GSS for ontologies About GeneDecksing

Phenotypes:
1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Gss):

mortality/aging

GSS for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Gss^tm1Wink for GSS

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for GSS

miRNA Products:		OriGene 3'-UTR Clone: GSS Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GSS
		5 QIAGEN miScript miRNA Assays for microRNAs that regulate GSS:
		hsa-miR-3910 hsa-miR-124 hsa-miR-506 hsa-miR-1910 hsa-miR-3714
		SwitchGear 3'UTR luciferase reporter plasmid: GSS 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GSS (see all 7) OriGene shRNA RFP: GSS OriGene siRNA: GSS
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GSS
		Sirion Biotech Custom design and validation of potent shRNA sequences against GSS

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for GSS
			Sirion Biotech Customized adenovirus for overexpression of GSS Sirion Biotech Customized adenovirus for potent knockdown of GSS

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		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GSS (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GSS OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: GSS (NM_000178)
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GSS

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for GSS
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		Sirion Biotech Customized stable knockdown cell line services for GSS Sirion Biotech Customized inducible knockdown cell line services for GSS Sirion Biotech Customized stable overexpressing cell line services for GSS Sirion Biotech Customized inducible overexpressing cell line services for GSS

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GSS

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Glutathione metabolism

Glutathione metabolism	1.00	Glutathione conjugation	0.50
Glutathione metabolism	0.92	Glutathione metabolism	0.44
Glutathione metabolism	0.70

Biological oxidations

	Biological oxidations	1.00			metapathway biotransformation	0.41
	Phase II conjugation	0.52

gamma-glutamyl cycle

gamma-glutamyl cycle

1.00

Glutathione synthesis and recycling

0.50

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

glutathione biosynthesis

glutathione biosynthesis

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for GSS

Glutathione metabolism

1 GeneGo (Thomson Reuters) Pathway for GSS

Glutathione metabolism

4 BioSystems Pathways for GSS

	Glutathione metabolism
	metapathway biotransformation
	glutathione biosynthesis
	gamma-glutamyl cycle

5 Reactome Pathways for GSS

	Glutathione synthesis and recycling
	Metabolism
	Biological oxidations
	Glutathione conjugation
	Phase II conjugation

2 Kegg Pathways (Kegg details for GSS):

	Glutathione metabolism
	Metabolic pathways

UniProtKB/Swiss-Prot: GSHB_HUMAN, P48637

Pathway: Sulfur metabolism; glutathione biosynthesis; glutathione from L-cysteine and L-glutamate: step 2/2

GSS for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for GSS

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/61 Interacting proteins for GSS (P48637^{2, 3} ENSP00000216951⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 61)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
GAPDH	P04406²^,³, ENSP00000229239⁴	MINT-6540721 I2D: score=1 STRING: ENSP00000229239
IRF3	Q14653²^,³, ENSP00000310127⁴	MINT-6540711 I2D: score=1 STRING: ENSP00000310127
GSTZ1	O43708³, ENSP00000216465⁴	I2D: score=2 STRING: ENSP00000216465
GCLC	P48506³, ENSP00000229416⁴	I2D: score=1 STRING: ENSP00000229416
OXSM	Q9NWU1³, ENSP00000280701⁴	I2D: score=1 STRING: ENSP00000280701

About this table

Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006520	cellular amino acid metabolic process	TAS	8896573
GO:0006750	glutathione biosynthetic process	TAS	--
GO:0006805	xenobiotic metabolic process	TAS	--
GO:0006979	response to oxidative stress	TAS	465367
GO:0007399	nervous system development	TAS	8896573

GSS for ontologies About GeneDecksing

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

GSS for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for GSS

9 HMDB Compounds for GSS About this table

Compound	Synonyms	CAS #	PubMed Ids
ADP	adenosindiphosphorsaeure (see all 8)	58-64-0	--
Adenosine triphosphate	5'-(tetrahydrogen triphosphate) Adenosine (see all 24)	56-65-5	--
Gamma-Glutamylcysteine	(Des-Gly)-Glutathione (see all 18)	636-58-8	--
Glutathione	5-L-Glutamyl-L-cysteinylglycine (see all 32)	70-18-8	--
Glycine	2-Aminoacetate (see all 15)	56-40-6	--
L-Cysteine	(+)-2-Amino-3-mercaptopropionic acid (see all 37)	52-90-4	--
L-Glutamic acid	(2S)-2-Aminopentanedioate (see all 49)	56-86-0	--
Phosphate	NFB Orthophosphate (see all 13)	14265-44-2	--
Phosphite	Hyopophosphite (see all 11)	14901-63-4	--

6 DrugBank Compounds for GSS About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Glutathione	5-L-Glutamyl-L-cysteinylglycine (see all 5)	70-18-8	target	--	17467761 17607728 17630655 17401648 17452339
Glycine	2-Aminoacetic acid (see all 4)	56-40-6	target	--	17397529 17124497 17401648 16996193 17452339
Gamma-Glutamylcysteine	--	686-58-8	target	--	17139284 17016423 10592235
Phosphoaminophosphonic Acid-Adenylate Ester	--	--	target	--	17139284 17016423 10592235
Adenosine-5'-Diphosphate	--	20398-34-9	target	--	17139284 17016423
L-Cysteine	(R)-2-Amino-3-mercaptopropanoic acid (see all 13)	52-90-4	target	--	16940754

10/32 Novoseek chemical compound relationships for GSS gene (see all 32) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
gamma-glutamylcysteine	92.3	42	1945285 (1), 8432334 (1), 9724699 (1), 12442906 (1) (see all 37)
pyroglutamate	77.2	5	8295398 (2), 18072147 (1), 8896573 (1)
buthionine sulfoximine	70.5	8	2121508 (1), 16671059 (1), 16820894 (1), 9135855 (1) (see all 7)
phytochelatin	70.5	1	16477125 (1)
glutathion	65.6	1	10569625 (1)
gssg	54.1	2	7903354 (1), 15286141 (1)
acivicin	54	2	16671059 (1)
n acetylcysteine	52.7	2	16671059 (1), 8301428 (1)
cysteine	42.2	9	8432334 (1), 15887520 (1), 1411253 (1), 16477124 (1) (see all 8)
arsenite	37.6	3	14530437 (1), 12018983 (1), 18779381 (1)

Search CenterWatch for drugs/clinical trials and news about GSS / GSHB

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for GSS gene:

NM_000178.2

Unigene Cluster for GSS:

Glutathione synthetase

Hs.82327 [show with all ESTs]

Unigene Representative Sequence: BC007927

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

ENST00000216951(uc010zuo.2 uc002xbg.3 uc010zup.2 uc010gez.1)

ENST00000451957 ENST00000541098(uc010zun.2)

miRNA Products:		OriGene 3'-UTR Clone: GSS Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GSS
		5 QIAGEN miScript miRNA Assays for microRNAs that regulate GSS:
		hsa-miR-3910 hsa-miR-124 hsa-miR-506 hsa-miR-1910 hsa-miR-3714
		SwitchGear 3'UTR luciferase reporter plasmid: GSS 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GSS (see all 7) OriGene shRNA RFP: GSS OriGene siRNA: GSS
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GSS
		Sirion Biotech Custom design and validation of potent shRNA sequences against GSS

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GSS (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GSS OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: GSS (NM_000178)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for GSS
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GSS

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GSS Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat GSS
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GSS
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GSS

Additional cDNA sequence:

AB459500.1 AK293144.1 AK298292.1 AK311421.1 AK311567.1 AK312492.1 BC007927.1 U34683.1

16 DOTS entries:

DT.100799504 DT.446685 DT.95087411 DT.120802389 DT.120802451 DT.95087408 DT.95087451 DT.120802334

DT.100038434 DT.100825211 DT.100825224 DT.100808857 DT.120802421 DT.120802414 DT.120802348 DT.95355346

24/507 AceView cDNA sequences (see all 507):

BM716198 AA421128 AU076581 BQ641376 BM787260 BQ439136 BM511564 CR611077

CR602068 L42531 BQ887354 T35967 BU752062 CB130294 BM749331 BQ229476

BQ653049 BM705915 BI253346 BM729898 BU735257 AW074577 BM756721 CF146665

GeneLoc Exon Structure

5/11 Alternative Splicing Database (ASD) splice patterns (SP) for GSS (see all 11) About this scheme

ExUns:	1a	·	1b	^	2a	·	2b	^	3	^	4a	·	4b	·	4c	·	4d	^	5a	·	5b	·	5c	·	5d	·	5e	^	6a	·	6b	^	7	^	8a	·	8b	·	8c	^	9	^	10	^	11	^	12a	·	12b	^	13a	·
SP1:									-												-		-		-		-																				-
SP2:																																											-				-
SP3:																																															-				-
SP4:
SP5:																																															-

ExUns:	13b	·	13c	^	14	^	15a	·	15b	·	15c
SP1:			-		-
SP2:
SP3:	-		-		-
SP4:
SP5:

ECgene alternative splicing isoforms for GSS

(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

GSS expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AACCCTGCCC

About this image

GSS expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Lens

Eye

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See GSS Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for GSS

SOURCE GeneReport for Unigene cluster: Hs.82327

SABiosciences Expression via Pathway-Focused PCR Arrays including GSS:

Oxidative Stress in human mouse rat

Nitric Oxide Signaling Pathway in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GSS Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GSS

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GSS

(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 eukaryotes.

Orthologs for GSS gene from 10/33 species (see all 33) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Gss^{1 , 5}	glutathione synthetase^{1, 5}	88.33(n)¹ 88.61(a)¹		2 (77.26 cM)⁵ 14854¹ NM_008180.1¹ NP_032206.1¹ 155563181⁵
chicken (Gallus gallus)	Aves	GSS¹	glutathione synthetase	70.32(n) 70.89(a)		428135 XM_425692.3 XP_425692.3
lizard (Anolis carolinensis)	Reptilia	GSS⁶	--	68(a)	1 ↔ 1	4(135366970-135380062)
African clawed frog (Xenopus laevis)	Amphibia	X69662.1²	--	75.1(n)		X69662.1
zebrafish (Danio rerio)	Actinopterygii	gss¹	glutathione synthetase	62.77(n) 63.27(a)		450084 NM_001006104.1 NP_001006104.1
fruit fly (Drosophila melanogaster)	Insecta	GS¹	Glutathione Synthetase	52.31(n) 42.86(a)		32775 NM_176752.2 NP_788925.2
worm (Caenorhabditis elegans)	Secernentea	M176.2³ gss-1¹	glutathione synthase³ Protein GSS-1¹	39(a)³ 47.2(n)¹ 40.31(a)¹		II(9414622-9416341)³ 174493¹ NM_063610.4¹ NP_496011.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	GSH2(YOL049W)⁴ GSH2¹	Glutathione synthetase, catalyzes the ATP-dependent more⁴ Gsh2p¹	45.2(n)¹ 38.02(a)¹		15(238619-240094)⁴ 854108^{1, 4} NP_014593.1^{1, 4}
thale cress (Arabidopsis thaliana)	eudicotyledons	GSH2¹	glutathione synthetase	49.67(n) 42.38(a)		832797 NM_122620.3 NP_568495.2
rice (Oryza sativa)	Liliopsida	Os11g0642800¹	hypothetical protein	49.96(n) 42.06(a)		4351008 NM_001074888.1 NP_001068356.1

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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

SNP ID	Valid	Clinical significance	Chr 20 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs28936396^1,2	C	pathogenic	33530409(-)	`TGAATC/TGCTCA`	2	R C	mis¹ ese³		2	NA	4
rs112426185^1,2		--	30294158(+)	`TGGCAG/CATGGG`	3	--	ds500¹		1	CSA	2
rs35673942^1,2	C,F	--	30294348(-)	`TGGCAG/CGAGCC`	3	--	ds500¹		8	NS NA WA	196
rs112034934^1,2	F	--	30320323(+)	`ACAACG/TCTGAA`	1	--	us2k¹		2	CSA	4
rs111304968^1,2	C	--	30320704(+)	`CACTCC/TAGCCT`	1	--	us2k¹		1	NA	2
rs12106084^1,2	C,F,A	--	30320749(+)	`aaaaaG/Aaaaaa`	1	--	us2k¹ trp³		7	NS WA CSA	189
rs34695538^1,2	C	--	30321331(-)	`GTAGAA/GTGTAG`	1	--	us2k¹		5	NS	184
rs34058755^1,2	C	--	30321332(-)	`TGTAGA/GATGTA`	1	--	us2k¹		6	NS WA	302
rs17092185^1,2	C,F,H	--	30321509(+)	`GGTCGC/GACTTT`	1	--	us2k¹		27	NA NS EA WA CSA	2048
rs80267580^1,2	C	--	30321721(+)	`CCGGAA/GAGTCT`	1	--	us2k¹		1	EA	120

HapMap Linkage Disequilibrium report for GSS (33516236 - 33543620 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for GSS
1 CNV: 5134
Human Gene Mutation Database (HGMD): GSS

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GSS

DNA2.0 Custom Variant and Variant Library Synthesis for GSS

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

GSS for disorders           About GeneDecksing

OMIM gene information: 601002
OMIM disorders: 231900  266130
UniProtKB/Swiss-Prot: GSHB_HUMAN, P48637

Defects in GSS are the cause of glutathione synthetase deficiency (GSS deficiency) [MIM:266130]; also known as

5-oxoprolinuria or pyroglutamic aciduria. It is a severe form characterized by an increased rate of hemolysis and

defective function of the central nervous system

Defects in GSS are the cause of glutathione synthetase deficiency of erythrocytes (GLUSYNDE)[MIM:231900].

Glutathione synthetase deficiency of erythrocytes is a mild form causing hemolytic anemia

20/40 diseases for GSS (see all 40): About MalaCards

glutathione synthetase deficiency hemolytic anemia due to glutathione synthetase deficiency hemolytic anemia alcohol abuse

cone dystrophy fatty liver disease cystinosis chronic myeloid leukemia

prion disease maculopathy small cell carcinoma myeloid leukemia

metabolic disorders anemia liver disease renal cell carcinoma

cataract anoxia amyloidosis homocysteine

9 Novoseek disease relationships for GSS gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
glutathione synthetase deficiency	99	58	7623442 (4), 15617191 (3), 14635114 (3), 15243982 (3) (see all 36)
anemia hemolytic	70.4	7	8896573 (2), 16435214 (1), 8634459 (1), 9679548 (1) (see all 5)
metabolic acidosis	61.6	5	15519833 (1), 18072147 (1), 8896573 (1), 17397529 (1)
hemolysis	28.7	3	15519833 (1), 8301428 (1), 11167850 (1)
bacterial infections	5.43	1	17397529 (1)
genetic disorder	0	1	9215686 (1)
necrosis	0	1	16728981 (1)
cataract	0	3	1945285 (1), 8098321 (1)
tumors	0	5	7659181 (2), 17234469 (1), 16728981 (1)

Genatlas disease: GSS

pyroglutamicaciduria,including a severe form characterized by acute metabolic acidosis from the neonatal

period,hemolytic anemia progressive encephalopathy and 5-oxyprolinuria. A milder form is restricted to erythrocyctes

Human Genome Epidemiology (HuGE) Navigator: GSS (106 documents)

Export disorders for GSS 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 GSS gene, integrated from 9 sources (see all 184):
(articles sorted by number of sources associating them with GSS)

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

Mutations in the glutathione synthetase gene cause 5-oxoprolinuria. (PubMed id 8896573)^{1, 2, 9} Shi Z.-Z....Lieberman M.W. (1996)
Sequencing and expression of a cDNA for human glutathione synthetase. (PubMed id 7646467)^{1, 2, 9} Gali R.R. and Board P.G. (1995)
Molecular basis of glutathione synthetase deficiency and a rare gene permutation event. (PubMed id 10369661)^{1, 2, 9} Polekhina G.... Parker M.W. (1999)
The gene encoding human glutathione synthetase (GSS) maps to the long arm of chromosome 20 at band 11.2. (PubMed id 8825653)^{1, 3, 9} Webb G.C....Board P.G. (1995)
Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction. (PubMed id 9215686)^{1, 2, 9} Dahl N.... Board P. (1997)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)^{1, 2} Deloukas P....Rogers J. (2001)
Cloning and characterization of the human glutathione synthetase 5'-flanking region. (PubMed id 15890065)^{1, 9} Lee T.D....Lu S.C. (2005)
Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency. (PubMed id 10450861)^{1, 9} Al-Jishi E....Kambouris M. (1999)
Function of conserved residues of human glutathione synthetase: implications for the ATP-grasp enzymes. (PubMed id 14990577)^{1, 9} Dinescu A....Anderson M.E. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		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)
About This Section

Entrez Gene: 2937	HGNC: 4624	AceView: GSS	Ensembl:ENSG00000100983	euGenes: HUgn2937
ECgene: GSS	Kegg: 2937	H-InvDB: GSS

(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

Name	Description
PharmGKB entry for GSS	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GSS
NIEHS-SNPs	http://egp.gs.washington.edu/data/gss/

Intellectual Property for GSS 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 GSS gene:
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GeneCards and IP:
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