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Aliases for GSR Gene

Aliases for GSR Gene

  • Glutathione-Disulfide Reductase 2 3 5
  • Glutathione S-Reductase 2 3
  • GRase 3 4
  • GR 3 4
  • Epididymis Secretory Sperm Binding Protein Li 122m 3
  • Glutathione Reductase, Mitochondrial 3
  • Epididymis Luminal Protein 75 3
  • Glutathione Reductase 2
  • HEL-S-122m 3
  • EC 1.8.1.7 4
  • HEL-75 3
  • GLUR 4
  • GRD1 4

External Ids for GSR Gene

Previous GeneCards Identifiers for GSR Gene

  • GC08M030441
  • GC08M030989
  • GC08M030594
  • GC08M030593
  • GC08M029081
  • GC08M030535

Summaries for GSR Gene

Entrez Gene Summary for GSR Gene

  • This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. This enzyme is a homodimeric flavoprotein. It is a central enzyme of cellular antioxidant defense, and reduces oxidized glutathione disulfide (GSSG) to the sulfhydryl form GSH, which is an important cellular antioxidant. Rare mutations in this gene result in hereditary glutathione reductase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Aug 2010]

GeneCards Summary for GSR Gene

GSR (Glutathione-Disulfide Reductase) is a Protein Coding gene. Diseases associated with GSR include Hemolytic Anemia Due To Glutathione Reductase Deficiency and Riboflavin Deficiency. Among its related pathways are Gene Expression and Sulfation Biotransformation Reaction. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and flavin adenine dinucleotide binding. An important paralog of this gene is TXNRD2.

UniProtKB/Swiss-Prot for GSR Gene

  • Maintains high levels of reduced glutathione in the cytosol.

Gene Wiki entry for GSR Gene

Additional gene information for GSR Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GSR Gene

Genomics for GSR Gene

GeneHancer (GH) Regulatory Elements for GSR Gene

Promoters and enhancers for GSR Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J030721 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 660.5 +1.2 1156 10.3 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 GSR GTF2E2 WRN UBXN8 ENSG00000272375 RBPMS-AS1
GH08J030742 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 9.7 -16.1 -16143 2.5 PKNOX1 SMAD1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B UBXN8 GC08M030742 LOC105379355 WRN GTF2E2 RPS15AP24 PPP2CB RNU5A-3P GSR
GH08J030681 Promoter 0.6 EPDnew 11.3 +46.1 46051 0.1 RUNX3 GTF2E2 UBXN8 GSR PPP2CB
GH08J030743 Enhancer 0.7 ENCODE 8.8 -14.7 -14677 0.3 TAF1 SAP130 MAX ERF CEBPG RAD21 ZNF205 POLR2A EGR1 THAP11 GC08M030742 LOC105379355 PPP2CB RNU5A-3P GSR PIR49055 UBXN8
GH08J030737 Enhancer 0.6 FANTOM5 9 -9.3 -9336 0.3 MEIS2 AFF1 CEBPB RAD21 SP1 HNF4G HNF4A NFE2 ZNF558 GSR PIR49055 UBXN8 LOC105379355
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GSR on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GSR gene promoter:
  • AP-1
  • p53
  • c-Jun
  • ATF-2
  • GR-alpha
  • GR
  • NF-kappaB1
  • c-Fos

Genomic Locations for GSR Gene

Genomic Locations for GSR Gene
chr8:30,678,061-30,727,999
(GRCh38/hg38)
Size:
49,939 bases
Orientation:
Minus strand
chr8:30,535,578-30,585,486
(GRCh37/hg19)
Size:
49,909 bases
Orientation:
Minus strand

Genomic View for GSR Gene

Genes around GSR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GSR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GSR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GSR Gene

Proteins for GSR Gene

  • Protein details for GSR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P00390-GSHR_HUMAN
    Recommended name:
    Glutathione reductase, mitochondrial
    Protein Accession:
    P00390
    Secondary Accessions:
    • C8KIL8
    • C8KIL9
    • C8KIM0
    • D3DSV3
    • Q7Z5C9
    • Q9NP63

    Protein attributes for GSR Gene

    Size:
    522 amino acids
    Molecular mass:
    56257 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Homodimer; disulfide-linked.
    Miscellaneous:
    • The active site is a redox-active disulfide bond.
    SequenceCaution:
    • Sequence=AAP88037.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GSR Gene

    Alternative splice isoforms for GSR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GSR Gene

Post-translational modifications for GSR Gene

  • Ubiquitination at Lys456, isoforms=3, 2300, and Lys181
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GSR Gene

Domains & Families for GSR Gene

Gene Families for GSR Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for GSR Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P00390

UniProtKB/Swiss-Prot:

GSHR_HUMAN :
  • Each subunit can be divided into 4 domains that are consecutive along the polypeptide chain. Domains 1 and 2 bind FAD and NADPH, respectively. Domain 4 forms the interface.
  • Belongs to the class-I pyridine nucleotide-disulfide oxidoreductase family.
Domain:
  • Each subunit can be divided into 4 domains that are consecutive along the polypeptide chain. Domains 1 and 2 bind FAD and NADPH, respectively. Domain 4 forms the interface.
Family:
  • Belongs to the class-I pyridine nucleotide-disulfide oxidoreductase family.
genes like me logo Genes that share domains with GSR: view

Function for GSR Gene

Molecular function for GSR Gene

UniProtKB/Swiss-Prot Function:
Maintains high levels of reduced glutathione in the cytosol.
UniProtKB/Swiss-Prot CatalyticActivity:
2 glutathione + NADP(+) = glutathione disulfide + NADPH.
GENATLAS Biochemistry:
glutathione reductase (NADPH) FAD dependent,maintaining glutathione in the reduced state

Enzyme Numbers (IUBMB) for GSR Gene

Phenotypes From GWAS Catalog for GSR Gene

Gene Ontology (GO) - Molecular Function for GSR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004362 glutathione-disulfide reductase activity TAS --
GO:0009055 electron transfer activity TAS 947404
GO:0016491 oxidoreductase activity IEA --
GO:0016668 oxidoreductase activity, acting on a sulfur group of donors, NAD(P) as acceptor IEA --
GO:0050660 flavin adenine dinucleotide binding IEA --
genes like me logo Genes that share ontologies with GSR: view
genes like me logo Genes that share phenotypes with GSR: view

Animal Model Products

  • Taconic Biosciences Mouse Models for GSR

miRNA for GSR Gene

miRTarBase miRNAs that target GSR

Transcription Factor Targets for GSR Gene

Selected GeneGlobe predicted Target genes for GSR

Clone Products

No data available for Human Phenotype Ontology , Animal Models and HOMER Transcription for GSR Gene

Localization for GSR Gene

Subcellular locations from UniProtKB/Swiss-Prot for GSR Gene

Isoform Mitochondrial: Mitochondrion.
Isoform Cytoplasmic: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GSR gene
Compartment Confidence
extracellular 5
mitochondrion 5
cytosol 5
plasma membrane 4
nucleus 2
cytoskeleton 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GSR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA,IBA --
GO:0005759 mitochondrial matrix TAS --
GO:0005829 cytosol TAS --
GO:0009897 external side of plasma membrane IEA --
genes like me logo Genes that share ontologies with GSR: view

Pathways & Interactions for GSR Gene

genes like me logo Genes that share pathways with GSR: view

Gene Ontology (GO) - Biological Process for GSR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006749 glutathione metabolic process IEA --
GO:0015949 nucleobase-containing small molecule interconversion TAS --
GO:0022900 electron transport chain IEA --
GO:0034599 cellular response to oxidative stress TAS --
GO:0045454 cell redox homeostasis IEA --
genes like me logo Genes that share ontologies with GSR: view

No data available for SIGNOR curated interactions for GSR Gene

Drugs & Compounds for GSR Gene

(102) Drugs for GSR Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carmustine Approved, Investigational Pharma Target, inhibitor 219
NADH Approved Nutra Target 0
FAD Approved Pharma Target 0
Oxidized glutathione Approved, Experimental, Investigational Pharma Target 0
Glutathione Approved, Investigational Nutra Target 0

(74) Additional Compounds for GSR Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
3-Deoxy-D-glycero-D-galacto-2-nonulosonic acid
  • 2-KDN
  • 2-keto-3-Deoxy-D-glycero-D-galacto-NONONate
  • 2-keto-3-Deoxy-D-glycero-D-galacto-NONONic acid
  • 2-oxo-3-Deoxy-D-glycero-galactononulosonate
  • 2-oxo-3-Deoxy-D-glycero-galactononulosonic acid
22594-61-2
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
NADP
  • beta-Nicotinamide adenine dinucleotide phosphate
  • NADP+
  • Nicotinamide adenine dinucleotide phosphate
  • Oxidized nicotinamide-adenine dinucleotide phosphate
  • TPN
53-59-8
genes like me logo Genes that share compounds with GSR: view

Transcripts for GSR Gene

mRNA/cDNA for GSR Gene

Unigene Clusters for GSR Gene

Glutathione reductase:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GSR Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1:
SP2:
SP3: - -

Relevant External Links for GSR Gene

GeneLoc Exon Structure for
GSR
ECgene alternative splicing isoforms for
GSR

Expression for GSR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GSR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GSR Gene

This gene is overexpressed in Lymph node (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GSR Gene



Protein tissue co-expression partners for GSR Gene

NURSA nuclear receptor signaling pathways regulating expression of GSR Gene:

GSR

SOURCE GeneReport for Unigene cluster for GSR Gene:

Hs.271510

Evidence on tissue expression from TISSUES for GSR Gene

  • Blood(4.6)
  • Liver(4.6)
  • Lung(4.5)
  • Nervous system(3.2)
  • Kidney(2.9)
  • Eye(2.4)
  • Heart(2.4)
  • Intestine(2.2)
  • Muscle(2.2)
  • Stomach(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GSR Gene

Germ Layers:
  • mesoderm
Systems:
  • cardiovascular
Regions:
General:
  • blood
  • red blood cell
genes like me logo Genes that share expression patterns with GSR: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for GSR Gene

Orthologs for GSR Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GSR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GSR 34 33
  • 98.98 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GSR 34 33
  • 87.69 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GSR 34 33
  • 86.83 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GSR 34
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gsr 33
  • 82.85 (n)
mouse
(Mus musculus)
Mammalia Gsr 16 34 33
  • 82.4 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GSR 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves GSR 34 33
  • 69.98 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GSR 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gsr 33
  • 71.76 (n)
zebrafish
(Danio rerio)
Actinopterygii gsr 34 33
  • 65.47 (n)
OneToOne
Dr.17468 33
worm
(Caenorhabditis elegans)
Secernentea gsr-1 34 33
  • 58.24 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR196W 33
  • 55.36 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GLR1 36 34 33
  • 53.18 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E24069g 33
  • 52.99 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons GR 33
  • 50.11 (n)
rice
(Oryza sativa)
Liliopsida Os03g0163300 33
  • 48.87 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 62 (a)
OneToOne
Cin.12083 33
bread mold
(Neurospora crassa)
Ascomycetes NCU03339 33
  • 56.85 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pgr1 33
  • 54.96 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12083 33
Species where no ortholog for GSR was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GSR Gene

ENSEMBL:
Gene Tree for GSR (if available)
TreeFam:
Gene Tree for GSR (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GSR: view image

Paralogs for GSR Gene

Paralogs for GSR Gene

(5) SIMAP similar genes for GSR Gene using alignment to 4 proteins:

  • GSHR_HUMAN
  • E5RI06_HUMAN
  • H0YBD4_HUMAN
  • H0YC68_HUMAN
genes like me logo Genes that share paralogs with GSR: view

Variants for GSR Gene

Sequence variations from dbSNP and Humsavar for GSR Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs28641651 benign, not provided 30,709,907(-) A/G/T intron_variant
rs35272936 benign, not specified 30,709,907(-) AAAAAAAAAAAAAAAAAA/AAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAAAAAAA intron_variant
rs8190996 benign, not specified 30,696,489(-) G/A/C intron_variant
rs1000006113 -- 30,726,044(-) A/G intron_variant
rs1000014435 -- 30,718,224(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GSR Gene

Variant ID Type Subtype PubMed ID
esv2657353 CNV deletion 23128226
esv2671289 CNV deletion 23128226
esv3616792 CNV loss 21293372
nsv473830 CNV novel sequence insertion 20440878
nsv478854 CNV novel sequence insertion 20440878
nsv516544 CNV loss 19592680
nsv824585 CNV gain 20364138

Variation tolerance for GSR Gene

Residual Variation Intolerance Score: 69.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.81; 66.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GSR Gene

Human Gene Mutation Database (HGMD)
GSR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GSR

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GSR Gene

Disorders for GSR Gene

MalaCards: The human disease database

(20) MalaCards diseases for GSR Gene - From: HGMD, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hemolytic anemia due to glutathione reductase deficiency
riboflavin deficiency
  • rbfvd
von economo's disease
  • encephalitis lethargica
transitional meningioma
  • transitional meningioma
pyridoxine deficiency
  • vitamin b6 deficiency
- elite association - COSMIC cancer census association via MalaCards
Search GSR in MalaCards View complete list of genes associated with diseases

Genatlas disease for GSR Gene

hemolytic crisis

Additional Disease Information for GSR

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GSR: view

No data available for UniProtKB/Swiss-Prot for GSR Gene

Publications for GSR Gene

  1. Enzyme inactivation through sulfhydryl oxidation by physiologic NO-carriers. (PMID: 9546215) Becker K … Karplus PA (Nature structural biology 1998) 3 4 22 58
  2. Glutathione reductase turned into trypanothione reductase: structural analysis of an engineered change in substrate specificity. (PMID: 9174360) Stoll VS … Pai EF (Biochemistry 1997) 3 4 22 58
  3. Kinetics and crystallographic analysis of human glutathione reductase in complex with a xanthene inhibitor. (PMID: 8626496) Savvides SN … Karplus PA (The Journal of biological chemistry 1996) 3 4 22 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58

Products for GSR Gene

Sources for GSR Gene

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