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Protein

Glutamate--cysteine ligase catalytic subunit

Gene

GCLC

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 describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Feedback inhibition by glutathione.

<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 1 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 (GSS), Glutathione synthetase (GSS), Glutathione synthetase, Glutathione synthetase, Glutathione synthetase (HEL-S-64p)
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.

<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

  • ADP binding Source: UniProtKB
  • ATP binding Source: UniProtKB-KW
  • coenzyme binding Source: UniProtKB
  • glutamate binding Source: UniProtKB
  • glutamate-cysteine ligase activity Source: UniProtKB
  • magnesium ion binding Source: UniProtKB
  • protein heterodimerization activity Source: Ensembl

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, Nucleotide-binding

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:ENSG00000001084-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
6.3.2.2 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-174403 Glutathione synthesis and recycling
R-HSA-5578999 Defective GCLC causes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD)

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P48506

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

More...
UniPathwayi
UPA00142;UER00209

<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:
Glutamate--cysteine ligase catalytic subunit (EC:6.3.2.2)
Alternative name(s):
GCS heavy chain
Gamma-ECS
Gamma-glutamylcysteine synthetase
<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:GCLC
Synonyms:GLCL, GLCLC
<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 6

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000001084.10

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4311 GCLC

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606857 gene+phenotype

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P48506

<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

Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by hemolytic anemia, glutathione deficiency, myopathy, late-onset spinocerebellar degeneration, and peripheral neuropathy.
See also OMIM:230450
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_021110127R → C in HAGGSD. 1 PublicationCorresponds to variant dbSNP:rs760031222Ensembl.1
Natural variantiVAR_015403158P → L in HAGGSD. 1 Publication1
Natural variantiVAR_013514370H → L in HAGGSD. 1 PublicationCorresponds to variant dbSNP:rs121907946EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Hereditary hemolytic anemia

Organism-specific databases

DisGeNET

More...
DisGeNETi
2729

MalaCards human disease database

More...
MalaCardsi
GCLC
MIMi230450 phenotype
606857 gene+phenotype

Open Targets

More...
OpenTargetsi
ENSG00000001084

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

More...
Orphaneti
33574 Glutamate-cysteine ligase deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA28612

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL4055

Drug and drug target database

More...
DrugBanki
DB00151 L-Cysteine
DB00142 L-Glutamic Acid
DB00163 Vitamin E

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GCLC

Domain mapping of disease mutations (DMDM)

More...
DMDMi
1346190

<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 ‘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_00001925631 – 637Glutamate--cysteine ligase catalytic subunitAdd BLAST637

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 residuei1N-acetylmethionineCombined sources1
Modified residuei5PhosphoserineCombined sources1
Modified residuei8PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P48506

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P48506

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

More...
PaxDbi
P48506

PeptideAtlas

More...
PeptideAtlasi
P48506

PRoteomics IDEntifications database

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PRIDEi
P48506

ProteomicsDB human proteome resource

More...
ProteomicsDBi
55896

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P48506

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

More...
PhosphoSitePlusi
P48506

Miscellaneous databases

CutDB - Proteolytic event database

More...
PMAP-CutDBi
P48506

<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
ENSG00000001084 Expressed in 229 organ(s), highest expression level in female gonad

CleanEx database of gene expression profiles

More...
CleanExi
HS_GCLC

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P48506 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P48506 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB009569
HPA036359
HPA036360

<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

Heterodimer of a catalytic heavy chain and a regulatory light chain.

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
108991, 11 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
P48506

Protein interaction database and analysis system

More...
IntActi
P48506, 2 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000229416

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P48506

<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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
P48506

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

More...
SMRi
P48506

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<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

<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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3754 Eukaryota
ENOG410XQIG LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000011908

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000199354

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG005924

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P48506

KEGG Orthology (KO)

More...
KOi
K11204

Identification of Orthologs from Complete Genome Data

More...
OMAi
PIYRGYL

Database of Orthologous Groups

More...
OrthoDBi
575052at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P48506

TreeFam database of animal gene trees

More...
TreeFami
TF105644

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR004308 GCS
IPR014746 Gln_synth/guanido_kin_cat_dom

The PANTHER Classification System

More...
PANTHERi
PTHR11164 PTHR11164, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF03074 GCS, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF55931 SSF55931, 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>Sequence (1+)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.

This entry has 1 described isoform and 7 potential isoforms that are computationally mapped.Show allAlign All

P48506-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MGLLSQGSPL SWEETKRHAD HVRRHGILQF LHIYHAVKDR HKDVLKWGDE
60 70 80 90 100
VEYMLVSFDH ENKKVRLVLS GEKVLETLQE KGERTNPNHP TLWRPEYGSY
110 120 130 140 150
MIEGTPGQPY GGTMSEFNTV EANMRKRRKE ATSILEENQA LCTITSFPRL
160 170 180 190 200
GCPGFTLPEV KPNPVEGGAS KSLFFPDEAI NKHPRFSTLT RNIRHRRGEK
210 220 230 240 250
VVINVPIFKD KNTPSPFIET FTEDDEASRA SKPDHIYMDA MGFGMGNCCL
260 270 280 290 300
QVTFQACSIS EARYLYDQLA TICPIVMALS AASPFYRGYV SDIDCRWGVI
310 320 330 340 350
SASVDDRTRE ERGLEPLKNN NYRISKSRYD SIDSYLSKCG EKYNDIDLTI
360 370 380 390 400
DKEIYEQLLQ EGIDHLLAQH VAHLFIRDPL TLFEEKIHLD DANESDHFEN
410 420 430 440 450
IQSTNWQTMR FKPPPPNSDI GWRVEFRPME VQLTDFENSA YVVFVVLLTR
460 470 480 490 500
VILSYKLDFL IPLSKVDENM KVAQKRDAVL QGMFYFRKDI CKGGNAVVDG
510 520 530 540 550
CGKAQNSTEL AAEEYTLMSI DTIINGKEGV FPGLIPILNS YLENMEVDVD
560 570 580 590 600
TRCSILNYLK LIKKRASGEL MTVARWMREF IANHPDYKQD SVITDEMNYS
610 620 630
LILKCNQIAN ELCECPELLG SAFRKVKYSG SKTDSSN
Length:637
Mass (Da):72,766
Last modified:January 23, 2007 - v2
<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:i511F33F106A15504
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 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E1CEI4E1CEI4_HUMAN
Glutamate--cysteine ligase catalyti...
GCLC
599Annotation 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>
A0A0C4DGB2A0A0C4DGB2_HUMAN
Glutamate--cysteine ligase catalyti...
GCLC
252Annotation 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>
D6RGF8D6RGF8_HUMAN
Glutamate--cysteine ligase catalyti...
GCLC
54Annotation 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>
B4E2I4B4E2I4_HUMAN
Glutamate--cysteine ligase catalyti...
GCLC
584Annotation 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>
A0A2R8Y648A0A2R8Y648_HUMAN
Glutamate--cysteine ligase catalyti...
GCLC
361Annotation 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>
A0A2R8YEL6A0A2R8YEL6_HUMAN
Glutamate--cysteine ligase catalyti...
GCLC
639Annotation 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>
D6RIT4D6RIT4_HUMAN
Glutamate--cysteine ligase catalyti...
GCLC
18Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01488455L → S. Corresponds to variant dbSNP:rs2066512Ensembl.1
Natural variantiVAR_021110127R → C in HAGGSD. 1 PublicationCorresponds to variant dbSNP:rs760031222Ensembl.1
Natural variantiVAR_015403158P → L in HAGGSD. 1 Publication1
Natural variantiVAR_013514370H → L in HAGGSD. 1 PublicationCorresponds to variant dbSNP:rs121907946EnsemblClinVar.1
Natural variantiVAR_021100462P → S1 PublicationCorresponds to variant dbSNP:rs17883718Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
M90656 mRNA Translation: AAA58499.1
AY780794 Genomic DNA Translation: AAV31778.1
AL033397 Genomic DNA No translation available.
BC022487 mRNA Translation: AAH22487.1
BC039894 mRNA Translation: AAH39894.1
L39773 Genomic DNA Translation: AAC41751.1
AF118846 Genomic DNA Translation: AAD18031.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS4952.1

Protein sequence database of the Protein Information Resource

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PIRi
JH0611

NCBI Reference Sequences

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RefSeqi
NP_001184044.1, NM_001197115.1
NP_001489.1, NM_001498.3

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.654465

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000229416; ENSP00000229416; ENSG00000001084
ENST00000650454; ENSP00000497574; ENSG00000001084

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
2729

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:2729

UCSC genome browser

More...
UCSCi
uc003pbx.5 human

Keywords - Coding sequence diversityi

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
M90656 mRNA Translation: AAA58499.1
AY780794 Genomic DNA Translation: AAV31778.1
AL033397 Genomic DNA No translation available.
BC022487 mRNA Translation: AAH22487.1
BC039894 mRNA Translation: AAH39894.1
L39773 Genomic DNA Translation: AAC41751.1
AF118846 Genomic DNA Translation: AAD18031.1
CCDSiCCDS4952.1
PIRiJH0611
RefSeqiNP_001184044.1, NM_001197115.1
NP_001489.1, NM_001498.3
UniGeneiHs.654465

3D structure databases

ProteinModelPortaliP48506
SMRiP48506
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108991, 11 interactors
CORUMiP48506
IntActiP48506, 2 interactors
STRINGi9606.ENSP00000229416

Chemistry databases

BindingDBiP48506
ChEMBLiCHEMBL4055
DrugBankiDB00151 L-Cysteine
DB00142 L-Glutamic Acid
DB00163 Vitamin E

PTM databases

iPTMnetiP48506
PhosphoSitePlusiP48506

Polymorphism and mutation databases

BioMutaiGCLC
DMDMi1346190

Proteomic databases

EPDiP48506
jPOSTiP48506
PaxDbiP48506
PeptideAtlasiP48506
PRIDEiP48506
ProteomicsDBi55896

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
2729
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000229416; ENSP00000229416; ENSG00000001084
ENST00000650454; ENSP00000497574; ENSG00000001084
GeneIDi2729
KEGGihsa:2729
UCSCiuc003pbx.5 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
2729
DisGeNETi2729
EuPathDBiHostDB:ENSG00000001084.10

GeneCards: human genes, protein and diseases

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GeneCardsi
GCLC
HGNCiHGNC:4311 GCLC
HPAiCAB009569
HPA036359
HPA036360
MalaCardsiGCLC
MIMi230450 phenotype
606857 gene+phenotype
neXtProtiNX_P48506
OpenTargetsiENSG00000001084
Orphaneti33574 Glutamate-cysteine ligase deficiency
PharmGKBiPA28612

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3754 Eukaryota
ENOG410XQIG LUCA
GeneTreeiENSGT00390000011908
HOGENOMiHOG000199354
HOVERGENiHBG005924
InParanoidiP48506
KOiK11204
OMAiPIYRGYL
OrthoDBi575052at2759
PhylomeDBiP48506
TreeFamiTF105644

Enzyme and pathway databases

UniPathwayi
UPA00142;UER00209

BioCyciMetaCyc:ENSG00000001084-MONOMER
BRENDAi6.3.2.2 2681
ReactomeiR-HSA-174403 Glutathione synthesis and recycling
R-HSA-5578999 Defective GCLC causes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD)
SIGNORiP48506

Miscellaneous databases

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

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ChiTaRSi
GCLC human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
GCLC

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

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GenomeRNAii
2729
PMAP-CutDBiP48506

Protein Ontology

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PROi
PR:P48506

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000001084 Expressed in 229 organ(s), highest expression level in female gonad
CleanExiHS_GCLC
ExpressionAtlasiP48506 baseline and differential
GenevisibleiP48506 HS

Family and domain databases

InterProiView protein in InterPro
IPR004308 GCS
IPR014746 Gln_synth/guanido_kin_cat_dom
PANTHERiPTHR11164 PTHR11164, 1 hit
PfamiView protein in Pfam
PF03074 GCS, 1 hit
SUPFAMiSSF55931 SSF55931, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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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 nameiGSH1_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: P48506
Secondary accession number(s): Q14399
<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: January 23, 2007
Last modified: January 16, 2019
This is version 170 of the entry and version 2 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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