Human Gene GLRX5 (ENST00000331334.5) from GENCODE V44
  Description: Homo sapiens glutaredoxin 5 (GLRX5), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_016417)
RefSeq Summary (NM_016417): 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, May 2010].
Gencode Transcript: ENST00000331334.5
Gencode Gene: ENSG00000182512.5
Transcript (Including UTRs)
   Position: hg38 chr14:95,535,050-95,544,714 Size: 9,665 Total Exon Count: 2 Strand: +
Coding Region
   Position: hg38 chr14:95,535,090-95,544,125 Size: 9,036 Coding Exon Count: 2 

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RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:95,535,050-95,544,714)mRNA (may differ from genome)Protein (157 aa)
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-  Comments and Description Text from UniProtKB
  ID: GLRX5_HUMAN
DESCRIPTION: RecName: Full=Glutaredoxin-related protein 5, mitochondrial; AltName: Full=Monothiol glutaredoxin-5; Flags: Precursor;
FUNCTION: Monothiol glutaredoxin involved in the biogenesis of iron-sulfur clusters. Required for normal iron homeostasis. Required for normal regulation of hemoglobin synthesis by the iron-sulfur protein ACO1.
SUBUNIT: Homodimer (Probable).
SUBCELLULAR LOCATION: Mitochondrion (By similarity).
DISEASE: 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.
SIMILARITY: Belongs to the glutaredoxin family. Monothiol subfamily.
SIMILARITY: Contains 1 glutaredoxin domain.
SEQUENCE CAUTION: Sequence=CAD62364.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GLRX5
Diseases sorted by gene-association score: anemia, sideroblastic, 3, pyridoxine-refractory* (1580), spasticity, childhood-onset, with hyperglycinemia* (1269), pyridoxine-refractory autosomal recessive sideroblastic anemia* (354), anemia, sideroblastic, 2, pyridoxine-refractory* (283), far eastern spotted fever (18), sideroblastic anemia (18), alcohol-related neurodevelopmental disorder (7), glycine encephalopathy (6), mitochondrial complex i deficiency (1)
* = Manually curated disease association

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 26.59 RPKM in Testis
Total median expression: 664.24 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -20.0040-0.500 Picture PostScript Text
3' UTR -151.70589-0.258 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
IPR002109 - Glutaredoxin
IPR004480 - Monothiol_GRX-rel
IPR012336 - Thioredoxin-like_fold

Pfam Domains:
PF00462 - Glutaredoxin

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2WUL - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q86SX6
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-  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
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0009055 electron carrier activity
GO:0015035 protein disulfide oxidoreductase activity
GO:0015036 disulfide oxidoreductase activity
GO:0046872 metal ion binding
GO:0051536 iron-sulfur cluster binding
GO:0051537 2 iron, 2 sulfur cluster binding

Biological Process:
GO:0009249 protein lipoylation
GO:0022900 electron transport chain
GO:0030097 hemopoiesis
GO:0044281 small molecule metabolic process
GO:0045454 cell redox homeostasis
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005634 nucleus
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0030425 dendrite
GO:0043025 neuronal cell body


-  Descriptions from all associated GenBank mRNAs
  LF384884 - JP 2014500723-A/192387: Polycomb-Associated Non-Coding RNAs.
MA620461 - JP 2018138019-A/192387: Polycomb-Associated Non-Coding RNAs.
BX248075 - human full-length cDNA clone CS0DL002YE04 of B cells (Ramos cell line) of Homo sapiens (human).
BC023528 - Homo sapiens glutaredoxin 5, mRNA (cDNA clone MGC:14129 IMAGE:3613760), complete cds.
BC047680 - Homo sapiens glutaredoxin 5, mRNA (cDNA clone MGC:51839 IMAGE:6066312), complete cds.
GQ891474 - Homo sapiens clone HEL-S-195 epididymis secretory sperm binding protein mRNA, complete cds.
AB223038 - Homo sapiens GLRX5 mRNA for glutaredoxin 5 homolog (S. cerevisiae), complete cds.
DQ083331 - Homo sapiens glutaredoxin 5 mRNA, complete cds.
LF330329 - JP 2014500723-A/137832: Polycomb-Associated Non-Coding RNAs.
MA565906 - JP 2018138019-A/137832: Polycomb-Associated Non-Coding RNAs.
AF113691 - Homo sapiens clone FLB4739 PRO1238 mRNA, complete cds.
BC071690 - Homo sapiens cDNA clone IMAGE:4369991, partial cds.
JD310944 - Sequence 291968 from Patent EP1572962.
BC105275 - Homo sapiens cDNA clone IMAGE:4069903.
JD023171 - Sequence 4195 from Patent EP1572962.
JD183485 - Sequence 164509 from Patent EP1572962.
LF330331 - JP 2014500723-A/137834: Polycomb-Associated Non-Coding RNAs.
MA565908 - JP 2018138019-A/137834: Polycomb-Associated Non-Coding RNAs.
JD343444 - Sequence 324468 from Patent EP1572962.

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

Protein Q86SX6 (Reactome details) participates in the following event(s):

R-HSA-8878815 Formation of 4Fe-4S cluster on ISCA1:ISCA2
R-HSA-1362409 Mitochondrial iron-sulfur cluster biogenesis
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: C14orf87, ENST00000331334.1, ENST00000331334.2, ENST00000331334.3, ENST00000331334.4, GLRX5_HUMAN, NM_016417, Q0X088, Q3YML0, Q86SX6, Q86WY3, Q8IZ54, uc001yem.1, uc001yem.2, uc001yem.3
UCSC ID: ENST00000331334.5
RefSeq Accession: NM_016417
Protein: Q86SX6 (aka GLRX5_HUMAN)
CCDS: CCDS9936.1

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