GLRX5 Gene
protein-coding GIFtS: 53
GCID: GC14P096001
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glutaredoxin 5(Previous names: chromosome 14 open reading frame 87, glutaredoxin 5 homolog...)
(Previous symbol: C14orf87)
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Aliases
for GLRX5 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Glutaredoxin 51 2 | | PRO12382 5 | | C14orf871 2 3 5 | | Chromosome 14 Open Reading Frame 871 | | GRX51 2 | | Glutaredoxin 5 Homolog (S. Cerevisiae)1 | | PR012381 2 | | Glutaredoxin 5 Homolog2 | | Monothiol Glutaredoxin-52 3 | | Glutaredoxin-Related Protein 5, Mitochondrial2 | | FLB47392 5 | | |
Export aliases for GLRX5 gene to outside databasesPrevious GC identifers: GC14P095072 GC14P076186 |
Summaries
for GLRX5 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
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 ofiron-sulfur clusters, which are required for normal iron homeostasis. Mutations in this gene are associated withautosomal recessive pyridoxine-refractory sideroblastic anemia. (provided by RefSeq, May 2010)
UniProtKB/Swiss-Prot: GLRX5_HUMAN, Q86SX6Function: 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
Gene Wiki entry for GLRX5
|
Genomic Views
for 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000014.8 NC_018925.1 NT_026437.12
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the GLRX5 gene promoter:
GR Pax-5 AML1a GR-beta Nkx2-5 Nkx5-1 AREB6 POU2F1 POU2F1a GR-alpha
Other transcription factors
Search SABiosciences Chromatin IP Primers for GLRX5
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat 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: 14q32.2GLRX5 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 14 GeneLoc Exon Structure GeneLoc location for GC14P096001: view genomic region
(about GC identifiers)
Start:
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95,999,840 bp from pter |
End:
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96,011,061 bp from pter |
Size:
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11,222 bases |
Orientation:
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plus strand |
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Proteins
for GLRX5 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
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;
1 PDB 3D structure from  and Proteopedia  for GLRX5:2WUL (3D)
Secondary accessions: Q0X088 Q3YML0 Q86WY3 Q8IZ54Explore the universe of human proteins at neXtProt for GLRX5: NX_Q86SX6
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q86SX6
GLRX5 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_057501.2
ENSEMBL proteins: ENSP00000328570 ENSP00000451800
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
GLRX5 for ontologies About GeneDecksing
GLRX5 Antibody Products:
Assay Products for GLRX5: |
Protein
Domains /
Families
for 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
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q86SX6ProtoNet protein and cluster: Q86SX6 1 Blocks protein family: IPB002109 Glutaredoxin
UniProtKB/Swiss-Prot: GLRX5_HUMAN, Q86SX6Similarity: Belongs to the glutaredoxin family. Monothiol subfamilySimilarity: Contains 1 glutaredoxin domain |
Function
for GLRX5 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: GLRX5_HUMAN, Q86SX6Function: 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
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GLRX5
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GLRX5 |
Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table | 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 | -- |
GLRX5 for ontologies About GeneDecksing
|
Pathways & Interactions
for GLRX5 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GLRX5
STRING Interaction
Network Preview (showing 5 interactants - click image to see 13)
5/24 Interacting proteins for GLRX5 (Q86SX63 ENSP000003285704) via UniProtKB, MINT, STRING, and/or I2D (see all 24)About this table
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0030097 | hemopoiesis |
ISS | -- | | GO:0045454 | cell redox homeostasis |
IEA | -- |
GLRX5 for ontologies About GeneDecksing
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Drugs & Compounds
for GLRX5 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for GLRX5
Search CenterWatch for drugs/clinical trials and news about GLRX5
|
Transcripts
for GLRX5 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for GLRX5 gene: NM_016417.2 Unigene Cluster for GLRX5: Glutaredoxin 5 Hs.532683 [show with all ESTs]Unigene Representative Sequence: CR9366983 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000553672 ENST00000331334(uc001yem.1) ENST00000557731
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GLRX5 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GLRX5
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: GLRX5 (NM_016417) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for GLRX5 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GLRX5 |
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.91727762 DT.95170065 DT.95170067 DT.99929797 DT.86849096 24/155 AceView cDNA sequences (see all 155): BX116512 BI259789 CR622540 H90725 AA335842 W80609 T92599 AI051722 CR598908 AA694246 NM_016417 BX248075 BU607738 AA699466 AA991188 BV179258 N90549 AA482495 BX371178 BX395035 BQ222826 BE384262 AI139435 AI089763
GeneLoc Exon Structure
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Expression
for GLRX5 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| GLRX5 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCTGAGTTGA
About this image
See GLRX5 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for GLRX5
SOURCE GeneReport for Unigene cluster: Hs.532683
SABiosciences Custom PCR Arrays for GLRX5
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GLRX5
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GLRX5 |
Orthologs
for GLRX5 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the last universal common ancestor (LUCA).
Orthologs for GLRX5 gene from 9/31 species (see all 31) About this table
ENSEMBL Gene Tree for GLRX5 (if available)
TreeFam Gene Tree for GLRX5 (if available) |
Paralogs
for GLRX5 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for GLRX5 gene
1 SIMAP similar gene for GLRX5 using alignment to 3 protein entries: GLRX5_HUMAN (see all proteins):GLRX
GLRX5 for paralogs About GeneDecksing
3 Pseudogenes.org Pseudogenes for GLRX5
PGOHUM00000247778 PGOHUM00000245044 PGOHUM00000241973
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Genomic Variants
for GLRX5 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 14 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for GLRX5 (95999840 - 96011061 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for GLRX5
1 CNV: 8775
Human Gene Mutation Database (HGMD): GLRX5
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GLRX5 |
|
Disorders
/ Diseases
for GLRX5 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
GLRX5 for disorders About GeneDecksing
OMIM gene information: 609588
OMIM 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 byanemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronicineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized byiron-loaded mitochondria clustered around the nucleus
8  diseases for GLRX5: About MalaCardssideroblastic anemia anemia iron overload microcytic anemia
pearson syndrome friedreich ataxia ataxia malaria
2 diseases from the University of Copenhagen DISEASES database for GLRX5:Sideroblastic anemia Pearson syndrome Human Genome Epidemiology (HuGE) Navigator: GLRX5 (2 documents)
Export disorders for GLRX5 gene to outside databases
|
Publications
for GLRX5 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for GLRX5 gene, integrated from 9 sources (see all 15):
(articles sorted by number of sources associating them with GLRX5) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload. (PubMed id 17485548)1, 2, 9 Camaschella C.... Iolascon A. (2007)
- The crystal structure of human GLRX5: iron-sulfur clu ster co-ordination, tetrameric assembly and monomer activity. (PubMed id 21029046)1, 2 Johansson C....Kavanagh K.L. (2010)
- 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, 9 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, 9 Bergmann A.K....Neufeld E.J. (2010)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
- Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
- 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)
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External Searches for GLRX5 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing GLRX5 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing GLRX5 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing GLRX5 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for GLRX5 | Pharmacogenomics, SNPs, Pathways |
|
| | |
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
|
Products
for GLRX5 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GLRX5 |
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