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Aliases & Descriptionsfor GLRX5 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section Aliases & Descriptions glutaredoxin 51 2 FLB47392 5 C14orf872 3 5 glutaredoxin 5 homolog (S. cerevisiae)1 PR012381 2 chromosome 14 open reading frame 871 GRX51 2 glutaredoxin-related protein 5, mitochondrial2 Monothiol glutaredoxin-52 3 glutaredoxin 5 homolog2 PRO12382 5 MGC141292
Export aliases for GLRX5 gene to outside databases Previous GC identifers: GC14P095072 GC14P096001
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Summariesfor GLRX5 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for GLRX5 : This gene encodes a mitochondrial protein, which is evolutionarily conserved. It is involved in the biogenesis of iron-sulfur clusters, which are required for normal iron homeostasis. Mutations in this gene are associated with autosomal recessive pyridoxine-refractory sideroblastic anemia. (provided by RefSeq) UniProtKB/Swiss-Prot: GLRX5_HUMAN, Q86SX6 Function : Monothiol glutaredoxin involved in the biogenesis of iron-sulfur clusters. Required for normal ironhomeostasis. Required for normal regulation of hemoglobin synthesis by the iron-sulfur protein ACO1
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Genomic Viewsfor GLRX5 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 60) ,
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences )About This Section Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the GLRX5 gene promoter: PPAR-gamma1 PPAR-gamma2 NF-AT3 NF-AT4 NF-AT2 NF-AT1 RFX1 c-Rel c-Jun JunB Other transcription factors Search SABiosciences Chromatin IP Primers for GLRX5 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for GLRX5
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 14q32.13 Ensembl cytogenetic band: 14q32.13 HGNC cytogenetic band: 14q32.2 GLRX5 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 14 GeneLoc Exon Structure
GeneLoc location for GC14P076186: view genomic region
(about GC identifiers )
Start:
76,186,979 bp from pter
End:
76,196,711 bp from pter
Size:
9,733 bases
Orientation:
plus strand
1 alternative location : Chr 14+ 96,001,323-96,011,055
RefSeq DNA sequence: NC_000014.8 NT_026437.12
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Proteinsfor GLRX5 gene
(According to
1 UniProtKB ,
neXtProt ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological , and/or
ProSpec ,
Biochemical Assays by
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene ,
Antibodies by
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals , and/or
Epitomics )
About This Section UniProtKB/Swiss-Prot: GLRX5_HUMAN, Q86SX6 (See
protein sequence )Recommended Name: Glutaredoxin-related protein 5, mitochondrial precursor Size : 157 amino acids; 16628 Da
Subunit : Homodimer (Probable)
Subcellular location : Mitochondrion (By similarity)
Sequence caution : Sequence=CAD62364.1; Type=Erroneous initiation;
PDB structures from and Proteopedia : 2WUL (3D)
 
Secondary accessions : Q0X088 Q3YML0 Q86WY3 Q8IZ54Explore the universe of human proteins at neXtProt for GLRX5: NX_Q86SX6 Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins: NP_057501.2 ENSEMBL proteins: ENSP00000328570 Human Recombinant Proteins 1 Gene Ontology (GO) cellular component term (GO ID links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0005739 mitochondrion
ISS --
About this table
GLRX5 for ontologies About GeneDecksing Antibodies for GLRX5: Assays for GLRX5:
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Protein
Domains/ Familiesfor GLRX5 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
GLRX5 for domains About GeneDecksing 4 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry Q86SX6 ProtoNet protein and cluster: Q86SX6
1 Blocks protein family : IPB002109 Glutaredoxin UniProtKB/Swiss-Prot: GLRX5_HUMAN, Q86SX6 Similarity : Belongs to the glutaredoxin family. Monothiol subfamilySimilarity : Contains 1 glutaredoxin domain
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Gene Functionfor GLRX5 gene
(According to UniProtKB ,
IUBMB ,and/or
Genatlas , Animal models from MGI Dec 24 2010,
shRNA from
OriGene ,
Sigma-Aldrich ,
RNAi from
Millipore ,
siRNAs from
Sigma-Aldrich ,
OriGene ,
Qiagen ,
Super-pooled esiRNAs from Sigma-Aldrich ,
microRNA from Sigma-Aldrich ,
Qiagen ,
SABiosciences ,
Clones from Millipore ,
Sigma-Aldrich ,
OriGene ,
GenScript ,
Sino Biological ,
Cell Lines from GenScript ,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene .)
About This Section UniProtKB/Swiss-Prot: GLRX5_HUMAN, Q86SX6 Function : Monothiol glutaredoxin involved in the biogenesis of iron-sulfur clusters. Required for normal ironhomeostasis. Required for normal regulation of hemoglobin synthesis by the iron-sulfur protein ACO1
4 Gene Ontology (GO) molecular function terms (GO ID links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0009055 electron carrier activity
IEA -- GO:0015035 protein disulfide oxidoreductase activity
IEA -- GO:0046872 metal ion binding
IEA -- GO:0051537 2 iron, 2 sulfur cluster binding
IEA --
About this table
GLRX5 for ontologies About GeneDecksing
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Pathways & Interactionsfor GLRX5 gene
(Pathways according to
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
PCR Arrays from
SABiosciences ,
Proteins Network according to
SABiosciences ,
Sigma-Aldrich ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene) .
About This Section SABiosciences Custom Pathway-Focused PCR Arrays for GLRX5 Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GLRX5 2 Gene Ontology (GO) biological process terms (GO ID links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0030097 hemopoiesis
ISS -- GO:0045454 cell redox homeostasis
IEA --
About this table
GLRX5 for ontologies About GeneDecksing
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Drugs & Compoundsfor GLRX5 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
About This Section Browse Tocris compounds for GLRX5
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Transcriptsfor GLRX5 gene (GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
Millipore ,
siRNAs from
Sigma-Aldrich ,
OriGene ,
Qiagen ,
Super-pooled esiRNAs from Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
microRNA from Sigma-Aldrich ,
Qiagen ,
SABiosciences ,
Tagged/untagged cDNA clones from
OriGene ,
Sigma-Aldrich ,
GenScript ,
Primers from
OriGene and/or
SABiosciences )About This Section REFSEQ mRNAs for GLRX5 gene: NM_016417.2
Additional cDNA sequence: AB223038.1 AF113691.1 BC023528.2 BC047680.1 BC071690.1 BC105275.1 BX248075.1 CR936698.1 DQ083331.1
7 DOTS entries : DT.115000 DT.428883 DT.95170065 DT.91727762 DT.95170067 DT.99929797 DT.86849096
24/155 AceView cDNA sequences (see all 155 ):
AI051722 H90725 AA335842 AA694246 BI259789 BX116512 T92599 NM_016417 CR598908 CR622540 W80609 BX248075 BM925367 BG679356 AA644458 BM720080 AI076460 BU607738 BI834047 AW069332 AI276516 BP432046 AI735116 AA991188
highest scoring ESTs for GLRX5 :AI973147 N36909 AA133341 AA133382 AA203566 AA314626 AA482495 AA482645 AA644458 AA677563 Unigene Cluster for GLRX5:
Glutaredoxin 5 Hs.728210 [show with all ESTs ] Unigene Representative Sequence: CR936698 GeneLoc Exon Structure 1 Ensembl transcript including schematic representation, and UCSC links where relevant : ENST00000331334 (uc001yem.1 )
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Expression for GLRX5 gene
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 228 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Primers from
OriGene and/or
SABiosciences
)
About This Section GLRX5 expression in normal and diseased human tissues 1 / 2 / 3
4 probe-sets matching GLRX5 gene
Affymetrix probe-set
Array
GeneAnnot data
GeneNote data
GeneTide data
# genes
Sensitivity
Specificity
Correlation
Length
Gb_Accession
Consensus
Uniqueness
Score
Rank
65171_at2 , 3
U95-C
1
0.75
1.00
1.00
1.00
N36909
1.00
1.00
1.00
1
59721_at2 , 3
U95-C
1
0.62
1.00
0.99
1.00
AI973147
1.00
1.00
1.00
1
221932_s_at2 , 3
U133-A
1
0.82
1.00
--
--
AA133341
0.80
1.00
0.91
1
221932_s_at2
U133Plus2
1
0.82
1.00
--
--
--
--
--
--
--
About this table
GLRX5 for expression About GeneDecksing Data from
Genenote  
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: CCTGAGTTGA SOURCE GeneReport for Unigene cluster: Hs.728210 SABiosciences Custom PCR Arrays for GLRX5
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Orthologsfor GLRX5 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
About This Section
Orthologs for GLRX5 gene from 5/17 species (see all 17 )
About this table Species with no ortholog for GLRX5 ENSEMBL Gene Tree for GLRX5 (if available)
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Paralogsfor GLRX5 gene (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section --
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Genomic Variantsfor GLRX5 gene (SNPs according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Resequencing Primers from Qiagen )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Chr 14 pos Sequence Recs AA Chg Type More Recs Allele freq Pop Total sample More
About this table HapMap Linkage Disequilibrium images for GLRX5 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 1 variation for GLRX5 1 CNV : 8775
QIAGEN SeqTarget long-range PCR primers for resequencing GLRX5
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Disorders & Mutationsfor GLRX5 gene
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
LSDB, HGMD, GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
GLRX5 for disorders About GeneDecksing
OMIM: 609588 disorders : 205950 UniProtKB/Swiss-Prot: GLRX5_HUMAN, Q86SX6
Defects in GLRX5 are a cause of anemia sideroblastic pyridoxine-refractory autosomal recessive (PRARSA) [MIM:205950]. A form of sideroblastic anemia not responsive to pyridoxine. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus Human Gene Mutation Database (HGMD) : GLRX5 Human Genome Epidemiology (HuGE) Navigator: GLRX5 (2 documents) Export disorders and mutations for GLRX5 gene to outside databases
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Medical Newsfor GLRX5 gene (Possibly Related Articles in
Doctor's Guide )
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Publicationsfor GLRX5 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 UniProtKB/TrEMBL , and/or
7 Novoseek )
About This Section 10/11 PubMed articles for GLRX5 gene, integrated from 7 sources (see all 11 ): (articles sorted by number of sources associating them with GLRX5) The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload. (PubMed id 17485548) 1 , 2 , 7 Camaschella C.... Iolascon A. (2007) Deficiency of glutaredoxin 5 reveals Fe-S clusters are required for vertebrate haem synthesis. (PubMed id 16110529) 1 , 2 Wingert R.A....Zon L.I. (2005) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 1 , 2 Gerhard D.S....Malek J. (2004) Glutaredoxin 5 deficiency causes sideroblastic anemia by specifically impairing heme biosynthesis and depleting cytosolic iron in hu man erythroblasts. (PubMed id 20364084) 1 , 7 Ye H....Rouault T.A. (2010) Systematic molecular genetic analysis of congenital s ideroblastic anemia: evidence for genetic heterogeneity and identification of n ovel mutations. (PubMed id 19731322) 1 , 7 Bergmann A.K....Neufeld E.J. (2010) Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614) 1 Rose J.E....Uhl G.R. (2010) Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624) 1 Hendrickson S.L....O'Brien S.J. (2010) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932) 1 Strausberg R.L....Marra M.A. (2002) Thioltransferase (glutaredoxin) is detected within HIV-1 and can regulate the activity of glutathionylated HIV-1 protease in vitro. (PubMed id 9325327) 1 Davis D.A....Yarchoan R. (1997) Hereditary sideroblastic anemias: pathophysiology, di agnosis, and treatment. (PubMed id 19786205) 7 Camaschella C. (2009)
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External Searches for GLRX5 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing GLRX5 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
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Other Databases showing GLRX5 gene
(According to HUGE )
About This Section --
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Specialized Databases showing GLRX5 gene (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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About This Section Patent Information for GLRX5 gene: Search GeneIP for patents involving GLRX5 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor GLRX5 gene (Antibodies, recombinant proteins, and assays by Millipore , Sigma-Aldrich , R&D Systems , Qiagen , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Epitomics , ProSpec , Uscn , Clones available from Millipore , Sigma-Aldrich , OriGene , GenScript , Sino Biological , PCR Arrays from SABiosciences , Drugs and/or compounds by Sigma-Aldrich , Tocris Bioscience , and/or
Enzo Life Sciences )About This Section
Search Tocris compounds for GLRX5
Recombinant Protein for GLRX5
ELISAs and CLIAs for GLRX5
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