Human Gene GLRX (uc003kln.4) Description and Page Index
  Description: Homo sapiens glutaredoxin (thioltransferase) (GLRX), transcript variant 1, mRNA.
RefSeq Summary (NM_002064): This gene encodes a member of the glutaredoxin family. The encoded protein is a cytoplasmic enzyme catalyzing the reversible reduction of glutathione-protein mixed disulfides. This enzyme highly contributes to the antioxidant defense system. It is crucial for several signalling pathways by controlling the S-glutathionylation status of signalling mediators. It is involved in beta-amyloid toxicity and Alzheimer's disease. Multiple alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Aug 2011].
Transcript (Including UTRs)
   Position: hg19 chr5:95,149,553-95,158,577 Size: 9,025 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg19 chr5:95,152,217-95,158,366 Size: 6,150 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr5:95,149,553-95,158,577)mRNA (may differ from genome)Protein (106 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
OMIMPubMedReactomeStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Glutaredoxin-1; AltName: Full=Thioltransferase-1; Short=TTase-1;
FUNCTION: Has a glutathione-disulfide oxidoreductase activity in the presence of NADPH and glutathione reductase. Reduces low molecular weight disulfides and proteins.
SIMILARITY: Belongs to the glutaredoxin family.
SIMILARITY: Contains 1 glutaredoxin domain.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): GLRX
CDC HuGE Published Literature: GLRX
Positive Disease Associations: Blood Pressure , cognitive trait
Related Studies:
  1. Blood Pressure
    , , . [PubMed 0]
  2. cognitive trait
    Sarah E Harris , et al. BMC genetics 2007 8:43, A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition., BMC genetics 2007 8:43. [PubMed 17601350]

-  MalaCards Disease Associations
  MalaCards Gene Search: GLRX
Diseases sorted by gene-association score: alzheimer disease (2), deafness, autosomal recessive 25 (2), pancreatic cystadenocarcinoma (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 56.06 RPKM in Muscle - Skeletal
Total median expression: 468.96 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -66.70211-0.316 Picture PostScript Text
3' UTR -285.741115-0.256 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011767 - GLR_AS
IPR002109 - Glutaredoxin
IPR011899 - Glutaredoxin_euk/vir
IPR014025 - Glutaredoxin_subgr
IPR012336 - Thioredoxin-like_fold

Pfam Domains:
PF00462 - Glutaredoxin
PF05768 - Glutaredoxin-like domain (DUF836)

SCOP Domains:
52833 - Thioredoxin-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help



ModBase Predicted Comparative 3D Structure on P35754
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 Protein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0009055 electron carrier activity
GO:0015035 protein disulfide oxidoreductase activity
GO:0015038 glutathione disulfide oxidoreductase activity
GO:0047485 protein N-terminus binding
GO:0097573 glutathione oxidoreductase activity

Biological Process:
GO:0015949 nucleobase-containing small molecule interconversion
GO:0022900 electron transport chain
GO:0045454 cell redox homeostasis
GO:0045838 positive regulation of membrane potential
GO:0055114 oxidation-reduction process
GO:0080058 protein deglutathionylation
GO:2000651 positive regulation of sodium ion transmembrane transporter activity

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0070062 extracellular exosome

-  Descriptions from all associated GenBank mRNAs
  D21238 - Homo sapiens mRNA for glutaredoxin, complete cds.
AF069668 - Homo sapiens glutaredoxin mRNA, complete cds.
X76648 - H.sapiens mRNA for glutaredoxin.
BC010965 - Homo sapiens glutaredoxin (thioltransferase), mRNA (cDNA clone MGC:13682 IMAGE:4333310), complete cds.
BC005304 - Homo sapiens glutaredoxin (thioltransferase), mRNA (cDNA clone MGC:12375 IMAGE:3682161), complete cds.
AF162769 - Homo sapiens thioltransferase mRNA, complete cds.
KJ891254 - Synthetic construct Homo sapiens clone ccsbBroadEn_00648 GLRX gene, encodes complete protein.
CR542165 - Homo sapiens full open reading frame cDNA clone RZPDo834D0524D for gene GLRX, glutaredoxin (thioltransferase); complete cds, incl. stopcodon.
AK311868 - Homo sapiens cDNA, FLJ92134, Homo sapiens glutaredoxin (thioltransferase) (GLRX), mRNA.
BT006689 - Homo sapiens glutaredoxin (thioltransferase) mRNA, complete cds.
DQ892497 - Synthetic construct clone IMAGE:100005127; FLH186865.01X; RZPDo839B0472D glutaredoxin (thioltransferase) (GLRX) gene, encodes complete protein.
DQ895709 - Synthetic construct Homo sapiens clone IMAGE:100010169; FLH186861.01L; RZPDo839B0462D glutaredoxin (thioltransferase) (GLRX) gene, encodes complete protein.
CR450312 - Homo sapiens full open reading frame cDNA clone RZPDo834F061D for gene GLRX, glutaredoxin (thioltransferase); complete cds; without stopcodon.
CU679866 - Synthetic construct Homo sapiens gateway clone IMAGE:100018487 5' read GLRX mRNA.
AK094753 - Homo sapiens cDNA FLJ37434 fis, clone BRAWH2002635.
AK125636 - Homo sapiens cDNA FLJ43648 fis, clone SYNOV4001224.
JD552929 - Sequence 533953 from Patent EP1572962.
JD377354 - Sequence 358378 from Patent EP1572962.
JD324114 - Sequence 305138 from Patent EP1572962.
JD412320 - Sequence 393344 from Patent EP1572962.
JD259221 - Sequence 240245 from Patent EP1572962.
JD556931 - Sequence 537955 from Patent EP1572962.
JD183623 - Sequence 164647 from Patent EP1572962.
JD049873 - Sequence 30897 from Patent EP1572962.
JD049874 - Sequence 30898 from Patent EP1572962.
JD496499 - Sequence 477523 from Patent EP1572962.
JD502690 - Sequence 483714 from Patent EP1572962.
JD502689 - Sequence 483713 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P35754 (Reactome details) participates in the following event(s):

R-HSA-111742 RNR (M1M2) reduces nucleotide diphosphates to deoxynucleotide diphosphates (glutaredoxin)
R-HSA-8866405 RNR (M1M2B) reduces nucleotide diphosphates to deoxynucleotide diphosphates (glutaredoxin)
R-HSA-111746 glutaredoxin (oxidized) + glutathione (reduced) => glutaredoxin (reduced) + glutathione (oxidized)
R-HSA-499943 Interconversion of nucleotide di- and triphosphates
R-HSA-15869 Metabolism of nucleotides
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B2R4L2, GLRX1_HUMAN, GRX, NM_002064, NP_002055, P35754, Q3KQS1, Q6ICT1
UCSC ID: uc003kln.4
RefSeq Accession: NM_002064
Protein: P35754 (aka GLRX1_HUMAN)
CCDS: CCDS4078.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_002064.2
exon count: 3CDS single in 3' UTR: no RNA size: 1661
ORF size: 321CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 812.00frame shift in genome: no % Coverage: 99.16
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.