GLRX5

GLRX5
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2MMZ, 2WUL
Identifiers
Aliases	GLRX5, C14orf87, FLB4739, GRX5, PR01238, PRO1238, PRSA, SIDBA3, SPAHGC, glutaredoxin 5
External IDs	OMIM: 609588; MGI: 1920296; HomoloGene: 31984; GeneCards: GLRX5; OMA:GLRX5 - orthologs
Gene location (Human) Chr. Chromosome 14 (human)[1] Band 14q32.13 Start 95,533,503 bp[1] End 95,544,724 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12|12 E Start 104,998,947 bp[2] End 105,009,165 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in trabecular bone thoracic diaphragm triceps brachii muscle Skeletal muscle tissue of biceps brachii vastus lateralis muscle glutes myocardium of left ventricle endothelial cell cardiac muscle tissue of right atrium right ventricle Top expressed in otolith organ utricle hand human fetus parotid gland bone marrow lacrimal gland endothelial cell of lymphatic vessel primitive streak facial motor nucleus More reference expression data BioGPS n/a
Gene ontology Molecular function protein-disulfide reductase activity electron transfer activity iron-sulfur cluster binding metal ion binding 2 iron, 2 sulfur cluster binding disulfide oxidoreductase activity protein binding glutathione disulfide oxidoreductase activity Cellular component neuronal cell body dendrite nucleus mitochondrion mitochondrial matrix Biological process cell redox homeostasis protein lipoylation small molecule metabolic process electron transport chain hemopoiesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 51218 73046 Ensembl ENSG00000182512 ENSMUSG00000021102 UniProt Q86SX6 Q80Y14 RefSeq (mRNA) NM_016417 NM_028419 RefSeq (protein) NP_057501 NP_082695 Location (UCSC) Chr 14: 95.53 – 95.54 Mb Chr 12: 105 – 105.01 Mb PubMed search [3] [4]
Wikidata
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Glutaredoxin 5, also known as GLRX5, is a protein which in humans is encoded by the GLRX5 gene located on chromosome 14.^[5] 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.^[6]

Structure

The GLRX5 gene contains 2 exons and encodes for a protein that is 13 kDa in size. The protein is highly expressed in erythroid cells.^[7] Crystal structure of the GLRX5 protein reveals that the protein likely exists as a tetramer with two Fe-S clusters buried in the interior.^[8]

Function

GLRX5 is a mitochondrial protein is conserved evolutionarily and plays a role in the formation of iron-sulfur clusters, which function to maintain iron homeostasis within the mitochondria and in the cell. GLRX5 is required for the steps in haem synthesis that involves mitochondrial enzymes,^[9] and is therefore involved in hematopoiesis. GLRX5 activity is required for normal regulation of hemoglobin synthesis by the iron-sulfur protein ACO1. The function of GLRX5 is highly conserved evolutionarily.^[10]

Clinical significance

Mutations in the GLRX5 gene have been associated with sideroblastic anemia,^[11] variant glycine encephalopathy (also known as non-ketotic hyperglycinemia, NKH).^[12] as well as pyridoxine-refractory, autosomal recessive anemia (PRARSA).^[10] Cells with mutations in GLRX5 activity show deficiency in Fe-S cluster synthesis, which is likely causative of the observed symptoms.^[7]

See also

• glutaredoxin

References

Further reading

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