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Protein

Glutathione synthetase

Gene

GSS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Mg2+1 PublicationNote: Binds 1 Mg2+ ion per subunit.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: glutathione biosynthesis

This protein is involved in step 2 of the subpathway that synthesizes glutathione from L-cysteine and L-glutamate.
Proteins known to be involved in the 2 steps of the subpathway in this organism are:
  1. Glutamate--cysteine ligase regulatory subunit (GCLM), Glutamate--cysteine ligase catalytic subunit (GCLC)
  2. Glutathione synthetase (HEL-S-64p), Glutathione synthetase, Glutathione synthetase (GSS), Glutathione synthetase, Glutathione synthetase (GSS)
This subpathway is part of the pathway glutathione biosynthesis, which is itself part of Sulfur metabolism.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes glutathione from L-cysteine and L-glutamate, the pathway glutathione biosynthesis and in Sulfur metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei125Substrate1
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi144Magnesium1
Binding sitei144ATP1
Metal bindingi146Magnesium1
Binding sitei220Substrate1
Binding sitei305ATP1
Metal bindingi368Magnesium1
Binding sitei375ATP1
Binding sitei425ATP1
Binding sitei450Substrate1
Binding sitei452ATP1
Binding sitei458ATP; via carbonyl oxygen1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi364 – 373ATP10
Nucleotide bindingi398 – 401ATP4

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • ATP binding Source: UniProtKB
  • glutathione binding Source: UniProtKB
  • glutathione synthase activity Source: GO_Central
  • glycine binding Source: Ensembl
  • identical protein binding Source: IntAct
  • magnesium ion binding Source: UniProtKB
  • protein homodimerization activity Source: UniProtKB

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionLigase
Biological processGlutathione biosynthesis
LigandATP-binding, Magnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:HS02174-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
6.3.2.3 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-174403 Glutathione synthesis and recycling
R-HSA-5579006 Defective GSS causes Glutathione synthetase deficiency (GSS deficiency)

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
P48637

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00142;UER00210

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Glutathione synthetase (EC:6.3.2.3)
Short name:
GSH synthetase
Short name:
GSH-S
Alternative name(s):
Glutathione synthase
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GSS
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 20

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000100983.9

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4624 GSS

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
601002 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P48637

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Glutathione synthetase deficiency (GSS deficiency)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionSevere form characterized by an increased rate of hemolysis and defective function of the central nervous system.
See also OMIM:266130
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_00360226A → D in GSS deficiency. Corresponds to variant dbSNP:rs759253242Ensembl.1
Natural variantiVAR_003603188L → P in GSS deficiency; 100-fold reduction of activity. 1
Natural variantiVAR_003604219D → A in GSS deficiency. 1
Natural variantiVAR_003605219D → G in GSS deficiency. 2 PublicationsCorresponds to variant dbSNP:rs28938472EnsemblClinVar.1
Natural variantiVAR_003606254L → R in GSS deficiency. 1
Natural variantiVAR_003607267R → W in GSS deficiency. 1 PublicationCorresponds to variant dbSNP:rs121909308EnsemblClinVar.1
Natural variantiVAR_003608270Y → C in GSS deficiency; 100-fold reduction of activity. Corresponds to variant dbSNP:rs1325986563Ensembl.1
Natural variantiVAR_003609270Y → H in GSS deficiency; 100-fold reduction of activity. 1
Natural variantiVAR_003610283R → C in GSS deficiency; 10-fold reduction of activity. 1 PublicationCorresponds to variant dbSNP:rs121909309EnsemblClinVar.1
Natural variantiVAR_003611286L → Q in GSS deficiency. Corresponds to variant dbSNP:rs1296000099Ensembl.1
Natural variantiVAR_078567301L → P in GSS deficiency. 1 Publication1
Natural variantiVAR_003612330R → C in GSS deficiency. Corresponds to variant dbSNP:rs148640446Ensembl.1
Natural variantiVAR_003613464G → V in GSS deficiency. 1
Natural variantiVAR_003614469D → E in GSS deficiency. 1
Glutathione synthetase deficiency of erythrocytes (GLUSYNDE)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionMild form causing hemolytic anemia.
See also OMIM:231900

Keywords - Diseasei

Disease mutation, Hereditary hemolytic anemia

Organism-specific databases

DisGeNET

More...
DisGeNETi
2937

MalaCards human disease database

More...
MalaCardsi
GSS
MIMi231900 phenotype
266130 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000100983

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
289846 Glutathione synthetase deficiency with 5-oxoprolinuria
289849 Glutathione synthetase deficiency without 5-oxoprolinuria

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA29015

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB06151 Acetylcysteine
DB03408 gamma-Glutamylcysteine
DB00143 Glutathione
DB00145 Glycine
DB00151 L-Cysteine
DB04395 Phosphoaminophosphonic Acid-Adenylate Ester

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GSS

Domain mapping of disease mutations (DMDM)

More...
DMDMi
1346191

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002112602 – 474Glutathione synthetaseAdd BLAST473

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineCombined sources1
Modified residuei415PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P48637

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P48637

PeptideAtlas

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PeptideAtlasi
P48637

PRoteomics IDEntifications database

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PRIDEi
P48637

ProteomicsDB human proteome resource

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ProteomicsDBi
55917

2D gel databases

USC-OGP 2-DE database

More...
OGPi
P48637

REPRODUCTION-2DPAGE

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REPRODUCTION-2DPAGEi
IPI00010706

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P48637

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P48637

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000100983 Expressed in 234 organ(s), highest expression level in cerebral cortex

CleanEx database of gene expression profiles

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CleanExi
HS_GSS

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P48637 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P48637 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA054508
HPA059315

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer.1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
109192, 27 interactors

Protein interaction database and analysis system

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IntActi
P48637, 3 interactors

Molecular INTeraction database

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MINTi
P48637

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000216951

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1474
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P48637

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P48637

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
P48637

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni148 – 151Substrate binding4
Regioni214 – 216Substrate binding3
Regioni267 – 270Substrate binding4
Regioni461 – 462Substrate binding2

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the eukaryotic GSH synthase family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0021 Eukaryota
ENOG410XPHH LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000013764

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000172641

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG002458

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P48637

KEGG Orthology (KO)

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KOi
K21456

Identification of Orthologs from Complete Genome Data

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OMAi
DQRHLEY

Database of Orthologous Groups

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OrthoDBi
EOG091G05V8

Database for complete collections of gene phylogenies

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PhylomeDBi
P48637

TreeFam database of animal gene trees

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TreeFami
TF105187

Family and domain databases

Conserved Domains Database

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CDDi
cd00228 eu-GS, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.1080.10, 1 hit
3.30.1490.50, 1 hit
3.30.1490.80, 1 hit
3.40.50.1760, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR005615 Glutathione_synthase
IPR014042 Glutathione_synthase_a-hlx
IPR014709 Glutathione_synthase_C_euk
IPR014049 Glutathione_synthase_N_euk
IPR037013 GSH-S_sub-bd_sf
IPR004887 GSH_synth_subst-bd
IPR016185 PreATP-grasp_dom_sf

The PANTHER Classification System

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PANTHERi
PTHR11130 PTHR11130, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF03917 GSH_synth_ATP, 1 hit
PF03199 GSH_synthase, 1 hit

PIRSF; a whole-protein classification database

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PIRSFi
PIRSF001558 GSHase, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF52440 SSF52440, 1 hit

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR01986 glut_syn_euk, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 12 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P48637-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MATNWGSLLQ DKQQLEELAR QAVDRALAEG VLLRTSQEPT SSEVVSYAPF
60 70 80 90 100
TLFPSLVPSA LLEQAYAVQM DFNLLVDAVS QNAAFLEQTL SSTIKQDDFT
110 120 130 140 150
ARLFDIHKQV LKEGIAQTVF LGLNRSDYMF QRSADGSPAL KQIEINTISA
160 170 180 190 200
SFGGLASRTP AVHRHVLSVL SKTKEAGKIL SNNPSKGLAL GIAKAWELYG
210 220 230 240 250
SPNALVLLIA QEKERNIFDQ RAIENELLAR NIHVIRRTFE DISEKGSLDQ
260 270 280 290 300
DRRLFVDGQE IAVVYFRDGY MPRQYSLQNW EARLLLERSH AAKCPDIATQ
310 320 330 340 350
LAGTKKVQQE LSRPGMLEML LPGQPEAVAR LRATFAGLYS LDVGEEGDQA
360 370 380 390 400
IAEALAAPSR FVLKPQREGG GNNLYGEEMV QALKQLKDSE ERASYILMEK
410 420 430 440 450
IEPEPFENCL LRPGSPARVV QCISELGIFG VYVRQEKTLV MNKHVGHLLR
460 470
TKAIEHADGG VAAGVAVLDN PYPV
Length:474
Mass (Da):52,385
Last modified:February 1, 1996 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i3C25EF7072EFE058
GO
Isoform 2 (identifier: P48637-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     93-203: Missing.

Note: Detected in colon, kidney, lung, liver, placenta, peripheral blood and uterus, but not in heart, skeletal muscle and spleen.
Show »
Length:363
Mass (Da):40,349
Checksum:i931DA0F137EE1634
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 12 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8Y430A0A2R8Y430_HUMAN
Glutathione synthetase
GSS
450Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y5T7A0A2R8Y5T7_HUMAN
Glutathione synthetase
GSS
360Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0S2Z4J7A0A0S2Z4J7_HUMAN
Glutathione synthetase isoform 2
GSS
132Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y7I7A0A2R8Y7I7_HUMAN
Glutathione synthetase
GSS
155Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y6Q7A0A2R8Y6Q7_HUMAN
Glutathione synthetase
GSS
169Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y446A0A2R8Y446_HUMAN
Glutathione synthetase
GSS
124Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y4V9A0A2R8Y4V9_HUMAN
Glutathione synthetase
GSS
97Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y790A0A2R8Y790_HUMAN
Glutathione synthetase
GSS
112Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YF34A0A2R8YF34_HUMAN
Glutathione synthetase
GSS
134Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y6Y6A0A2R8Y6Y6_HUMAN
Glutathione synthetase
GSS
81Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00360226A → D in GSS deficiency. Corresponds to variant dbSNP:rs759253242Ensembl.1
Natural variantiVAR_003603188L → P in GSS deficiency; 100-fold reduction of activity. 1
Natural variantiVAR_003604219D → A in GSS deficiency. 1
Natural variantiVAR_003605219D → G in GSS deficiency. 2 PublicationsCorresponds to variant dbSNP:rs28938472EnsemblClinVar.1
Natural variantiVAR_025047236R → Q1 PublicationCorresponds to variant dbSNP:rs34239729Ensembl.1
Natural variantiVAR_003606254L → R in GSS deficiency. 1
Natural variantiVAR_003607267R → W in GSS deficiency. 1 PublicationCorresponds to variant dbSNP:rs121909308EnsemblClinVar.1
Natural variantiVAR_003608270Y → C in GSS deficiency; 100-fold reduction of activity. Corresponds to variant dbSNP:rs1325986563Ensembl.1
Natural variantiVAR_003609270Y → H in GSS deficiency; 100-fold reduction of activity. 1
Natural variantiVAR_003610283R → C in GSS deficiency; 10-fold reduction of activity. 1 PublicationCorresponds to variant dbSNP:rs121909309EnsemblClinVar.1
Natural variantiVAR_003611286L → Q in GSS deficiency. Corresponds to variant dbSNP:rs1296000099Ensembl.1
Natural variantiVAR_078567301L → P in GSS deficiency. 1 Publication1
Natural variantiVAR_003612330R → C in GSS deficiency. Corresponds to variant dbSNP:rs148640446Ensembl.1
Natural variantiVAR_025048437K → E2 PublicationsCorresponds to variant dbSNP:rs34852238Ensembl.1
Natural variantiVAR_003613464G → V in GSS deficiency. 1
Natural variantiVAR_003614469D → E in GSS deficiency. 1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_04761793 – 203Missing in isoform 2. 1 PublicationAdd BLAST111

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
L42531 mRNA Translation: AAA69492.1
AB459500 mRNA Translation: BAG75452.1
U34683 mRNA Translation: AAB62390.1
AK312492 mRNA Translation: BAG35394.1
DQ074975 Genomic DNA Translation: AAY57328.1
AL133324 Genomic DNA No translation available.
CH471077 Genomic DNA Translation: EAW76239.1
CH471077 Genomic DNA Translation: EAW76240.1
BC007927 mRNA Translation: AAH07927.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS13245.1 [P48637-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
S56748

NCBI Reference Sequences

More...
RefSeqi
NP_000169.1, NM_000178.3 [P48637-1]
NP_001309423.1, NM_001322494.1 [P48637-1]
NP_001309424.1, NM_001322495.1 [P48637-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.82327

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000216951; ENSP00000216951; ENSG00000100983 [P48637-1]
ENST00000451957; ENSP00000407517; ENSG00000100983 [P48637-2]
ENST00000643188; ENSP00000493903; ENSG00000100983 [P48637-1]
ENST00000644793; ENSP00000495750; ENSG00000100983 [P48637-1]
ENST00000646735; ENSP00000493763; ENSG00000100983 [P48637-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
2937

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:2937

UCSC genome browser

More...
UCSCi
uc010zuo.3 human [P48637-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L42531 mRNA Translation: AAA69492.1
AB459500 mRNA Translation: BAG75452.1
U34683 mRNA Translation: AAB62390.1
AK312492 mRNA Translation: BAG35394.1
DQ074975 Genomic DNA Translation: AAY57328.1
AL133324 Genomic DNA No translation available.
CH471077 Genomic DNA Translation: EAW76239.1
CH471077 Genomic DNA Translation: EAW76240.1
BC007927 mRNA Translation: AAH07927.1
CCDSiCCDS13245.1 [P48637-1]
PIRiS56748
RefSeqiNP_000169.1, NM_000178.3 [P48637-1]
NP_001309423.1, NM_001322494.1 [P48637-1]
NP_001309424.1, NM_001322495.1 [P48637-1]
UniGeneiHs.82327

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2HGSX-ray2.10A1-474[»]
ProteinModelPortaliP48637
SMRiP48637
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109192, 27 interactors
IntActiP48637, 3 interactors
MINTiP48637
STRINGi9606.ENSP00000216951

Chemistry databases

DrugBankiDB06151 Acetylcysteine
DB03408 gamma-Glutamylcysteine
DB00143 Glutathione
DB00145 Glycine
DB00151 L-Cysteine
DB04395 Phosphoaminophosphonic Acid-Adenylate Ester

PTM databases

iPTMnetiP48637
PhosphoSitePlusiP48637

Polymorphism and mutation databases

BioMutaiGSS
DMDMi1346191

2D gel databases

OGPiP48637
REPRODUCTION-2DPAGEiIPI00010706

Proteomic databases

EPDiP48637
PaxDbiP48637
PeptideAtlasiP48637
PRIDEiP48637
ProteomicsDBi55917

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
2937
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000216951; ENSP00000216951; ENSG00000100983 [P48637-1]
ENST00000451957; ENSP00000407517; ENSG00000100983 [P48637-2]
ENST00000643188; ENSP00000493903; ENSG00000100983 [P48637-1]
ENST00000644793; ENSP00000495750; ENSG00000100983 [P48637-1]
ENST00000646735; ENSP00000493763; ENSG00000100983 [P48637-2]
GeneIDi2937
KEGGihsa:2937
UCSCiuc010zuo.3 human [P48637-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2937
DisGeNETi2937
EuPathDBiHostDB:ENSG00000100983.9

GeneCards: human genes, protein and diseases

More...
GeneCardsi
GSS
HGNCiHGNC:4624 GSS
HPAiHPA054508
HPA059315
MalaCardsiGSS
MIMi231900 phenotype
266130 phenotype
601002 gene
neXtProtiNX_P48637
OpenTargetsiENSG00000100983
Orphaneti289846 Glutathione synthetase deficiency with 5-oxoprolinuria
289849 Glutathione synthetase deficiency without 5-oxoprolinuria
PharmGKBiPA29015

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0021 Eukaryota
ENOG410XPHH LUCA
GeneTreeiENSGT00390000013764
HOGENOMiHOG000172641
HOVERGENiHBG002458
InParanoidiP48637
KOiK21456
OMAiDQRHLEY
OrthoDBiEOG091G05V8
PhylomeDBiP48637
TreeFamiTF105187

Enzyme and pathway databases

UniPathwayi
UPA00142;UER00210

BioCyciMetaCyc:HS02174-MONOMER
BRENDAi6.3.2.3 2681
ReactomeiR-HSA-174403 Glutathione synthesis and recycling
R-HSA-5579006 Defective GSS causes Glutathione synthetase deficiency (GSS deficiency)
SABIO-RKiP48637

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
GSS human
EvolutionaryTraceiP48637

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
2937

Protein Ontology

More...
PROi
PR:P48637

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000100983 Expressed in 234 organ(s), highest expression level in cerebral cortex
CleanExiHS_GSS
ExpressionAtlasiP48637 baseline and differential
GenevisibleiP48637 HS

Family and domain databases

CDDicd00228 eu-GS, 1 hit
Gene3Di1.10.1080.10, 1 hit
3.30.1490.50, 1 hit
3.30.1490.80, 1 hit
3.40.50.1760, 1 hit
InterProiView protein in InterPro
IPR005615 Glutathione_synthase
IPR014042 Glutathione_synthase_a-hlx
IPR014709 Glutathione_synthase_C_euk
IPR014049 Glutathione_synthase_N_euk
IPR037013 GSH-S_sub-bd_sf
IPR004887 GSH_synth_subst-bd
IPR016185 PreATP-grasp_dom_sf
PANTHERiPTHR11130 PTHR11130, 1 hit
PfamiView protein in Pfam
PF03917 GSH_synth_ATP, 1 hit
PF03199 GSH_synthase, 1 hit
PIRSFiPIRSF001558 GSHase, 1 hit
SUPFAMiSSF52440 SSF52440, 1 hit
TIGRFAMsiTIGR01986 glut_syn_euk, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGSHB_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P48637
Secondary accession number(s): B2R697
, B6F210, E1P5P9, Q4TTD9
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: February 1, 1996
Last modified: December 5, 2018
This is version 191 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  7. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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