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GSR (glutathione-disulfide reductase)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2936
Gene nameGene Name - the full gene name approved by the HGNC.
Glutathione-disulfide reductase
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
GSR
SynonymsGene synonyms aliases
CNSHA10, GR, GSRD, HEL-75, HEL-S-122m
ChromosomeChromosome number
8
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8p12
SummarySummary of gene provided in NCBI Entrez 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 sulf
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1345036090 C>T Pathogenic Stop gained, intron variant, coding sequence variant
rs1586033745 C>G Pathogenic Coding sequence variant, missense variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT029742 hsa-miR-26b-5p Sequencing 20371350
MIRT032416 hsa-let-7b-5p Proteomics 18668040
MIRT032416 hsa-let-7b-5p CLASH 23622248
MIRT047077 hsa-miR-183-5p CLASH 23622248
MIRT037682 hsa-miR-744-5p CLASH 23622248
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004362 Function Glutathione-disulfide reductase activity IBA 21873635
GO:0005739 Component Mitochondrion IBA 21873635
GO:0005759 Component Mitochondrial matrix TAS
GO:0005829 Component Cytosol IBA 21873635
GO:0005829 Component Cytosol IDA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID P00390
Protein name Glutathione reductase, mitochondrial (GR) (GRase) (EC 1.8.1.7)
Protein function Catalyzes the reduction of glutathione disulfide (GSSG) to reduced glutathione (GSH). Constitutes the major mechanism to maintain a high GSH:GSSG ratio in the cytosol.
PDB 1ALG , 1BWC , 1DNC , 1GRA , 1GRB , 1GRE , 1GRF , 1GRG , 1GRH , 1GRT , 1GSN , 1K4Q , 1XAN , 2AAQ , 2GH5 , 2GRT , 3DJG , 3DJJ , 3DK4 , 3DK8 , 3DK9 , 3GRS , 3GRT , 3SQP , 4GR1 , 4GRT , 5GRT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00070 Pyr_redox
233 312
Domain
PF02852 Pyr_redox_dim
411 522
Pyridine nucleotide-disulphide oxidoreductase, dimerisation domain
Domain
Sequence
MALLPRALSAGAGPSWRRAARAFRGFLLLLPEPAALTRALSRAMACRQEPQPQGPPPAAG
AVASYDYLVIGGGSGGLASARRAAELGARAAVVESHKLGGTCVNVGCVPKKVMWNTAVHS
EFMHDHADYGFPSCEGKFNWRVIKEKRDAYVSRLNAIYQNNLTKSHIEIIRGHAAFTSDP
KPTIEVSGKKYTAPHILIATGGMPSTPHESQIPGASLGITSDGFFQLEELPGRSVIVGAG
YIAVEMAGILSALGSKTSLMIRHDKVLRSFDSMISTNCTEELENAGVEVLKFSQVKEVKK
TLSGLEVSMVTA
VPGRLPVMTMIPDVDCLLWAIGRVPNTKDLSLNKLGIQTDDKGHIIVD
EFQNTNVKGIYAVGDVCGKALLTPVAIAAGRKLAHRLFEYKEDSKLDYNNIPTVVFSHPP
IGTVGLTEDEAIHKYGIENVKTYSTSFTPMYHAVTKRKTKCVMKMVCANKEEKVVGIHMQ
GLGCDEMLQGFAVAVKMGATKADFDNTVAIHPTSSEELVTLR
Sequence length 522
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Glutathione metabolism
Metabolic pathways
Thyroid hormone synthesis
Diabetic cardiomyopathy
  Detoxification of Reactive Oxygen Species
Interconversion of nucleotide di- and triphosphates
TP53 Regulates Metabolic Genes
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis, Amyotrophic Lateral Sclerosis, Guam Form rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733, rs80356731, rs80356726, rs267606928, rs267606929, rs1885090126, rs121434591, rs121912431, rs121912432, rs121912433, rs121912434, rs121912435, rs121912440, rs121912436, rs121912437, rs121912438, rs121912439, rs74315452, rs121912442, rs121912443, rs121912444, rs121912446, rs121912447, rs1197141604, rs121912448, rs121912449, rs121912450, rs121912451, rs121912452, rs121912453, rs121912454, rs369600566, rs121912455, rs121912456, rs121912457, rs121912458, rs1555836889, rs121909667, rs121909668, rs121909669, rs121909671, rs121909535, rs121909537, rs121909538, rs121909539, rs121909540, rs121909542, rs121909544, rs80356734, rs367543041, rs80356740, rs80356719, rs80356721, rs80356723, rs80356725, rs387906627, rs387906628, rs387906709, rs387906710, rs387906711, rs387906829, rs387907264, rs387907265, rs387907266, rs312262739, rs312262709, rs312262749, rs200793464, rs147713329, rs312262788, rs397514262, rs63751180, rs587777132, rs730880025, rs730880026, rs730880027, rs368743618, rs730880029, rs730882255, rs730882256, rs786205611, rs121912441, rs199947197, rs780136067, rs772731615, rs879253926, rs879254294, rs764717219, rs886041390, rs750159428, rs753207473, rs267607087, rs767350733, rs778305085, rs1554707680, rs1554707622, rs1393363759, rs750959420, rs1555509569, rs1554716504, rs11556620, rs1247392012, rs142083484, rs140385286, rs749428135, rs371575563, rs1402429085, rs1218712729, rs1555179091, rs1555179087, rs746971952, rs1555836950, rs368276916, rs140376902, rs747220413, rs76731700, rs770684782, rs1200906022, rs1804449, rs1482760341, rs769898852, rs140599944, rs757972700, rs1555451521, rs1592362719, rs1555836803, rs763455928, rs1378590183, rs1583695322, rs1362178149, rs1197928094, rs368751524, rs1555509609, rs1574787779, rs1601157750, rs1301635320, rs1341055534, rs1402092579, rs1568809172, rs1555836170, rs1315541036, rs1339283341, rs1643659556, rs1644506661, rs1435710212, rs1553122918, rs1689580631, rs374047961, rs775935265, rs2076486420, rs1820836522, rs757260058, rs1844420892, rs1833371664, rs1833438306, rs1833451208, rs2083790483, rs1303294230, rs1226110412, rs2053207945, rs2053208751, rs2053501632, rs2053539304, rs1567479067, rs544088874, rs1228194239, rs1568807400, rs1169198442, rs2049594204, rs2049594311, rs1568810641, rs1568811372, rs2049618449, rs1476760624, rs2079347087 16681429
Anemia Anemia, Anemia, Hemolytic, Anemia, Hemolytic, Acquired, Anemia, Microangiopathic rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505 5984971, 13931269
Dermatitis Contact Dermatitis rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174 25724174
Hemolytic anemia Hemolytic anemia due to glutathione reductase deficiency rs104894025, rs104894026, rs397518435, rs397518436, rs104894027, rs397518437, rs104894028, rs397518438, rs104894029, rs137853583, rs137853585, rs137853586, rs137853587, rs267606851, rs267606852, rs267606853, rs137853249, rs33924146, rs104894101, rs104894102, rs137853203, rs137853204, rs137853205, rs387906582, rs387906583, rs398122379, rs1064794848, rs774419705, rs1555367318, rs1345036090, rs1586033745, rs1571436535, rs2022057
Unknown
Disease name Disease term dbSNP ID References
Amyotrophic lateral sclerosis with dementia Amyotrophic Lateral Sclerosis With Dementia 16681429
Degenerative diseases, central nervous system Degenerative Diseases, Central Nervous System, Degenerative Diseases, Spinal Cord 15964507
Enzymopathy Enzymopathy 8533822
Hypoglycemia Hypoglycemia 20620209

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