Protein-coding gene in the species Homo sapiens
GLRX5 |
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Available structures |
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PDB | Ortholog search: PDBe RCSB |
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List of PDB id codes |
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2MMZ, 2WUL |
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Identifiers |
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Aliases | GLRX5, C14orf87, FLB4739, GRX5, PR01238, PRO1238, PRSA, SIDBA3, SPAHGC, glutaredoxin 5 |
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External IDs | OMIM: 609588; MGI: 1920296; HomoloGene: 31984; GeneCards: GLRX5; OMA:GLRX5 - orthologs |
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Gene location (Human) |
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| Chr. | Chromosome 14 (human)[1] |
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| Band | 14q32.13 | Start | 95,533,503 bp[1] |
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End | 95,544,724 bp[1] |
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Gene location (Mouse) |
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| Chr. | Chromosome 12 (mouse)[2] |
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| Band | 12|12 E | Start | 104,998,947 bp[2] |
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End | 105,009,165 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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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
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| 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
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| More reference expression data |
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BioGPS | |
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Gene ontology |
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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 |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | | |
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RefSeq (protein) | | |
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Location (UCSC) | Chr 14: 95.53 – 95.54 Mb | Chr 12: 105 – 105.01 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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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
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000182512 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021102 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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- ^ "GLRX5 glutaredoxin 5 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2016-10-26.
- ^ a b Ye H, Jeong SY, Ghosh MC, Kovtunovych G, Silvestri L, Ortillo D, Uchida N, Tisdale J, Camaschella C, Rouault TA (2010). "Glutaredoxin 5 deficiency causes sideroblastic anemia by specifically impairing heme biosynthesis and depleting cytosolic iron in human erythroblasts". J. Clin. Invest. 120 (5): 1749–61. doi:10.1172/JCI40372. PMC 2860907. PMID 20364084.
- ^ Johansson C, Roos AK, Montano SJ, Sengupta R, Filippakopoulos P, Guo K, von Delft F, Holmgren A, Oppermann U, Kavanagh KL (2011). "The crystal structure of human GLRX5: iron-sulfur cluster co-ordination, tetrameric assembly and monomer activity". Biochem. J. 433 (2): 303–11. doi:10.1042/BJ20101286. hdl:10616/41576. PMID 21029046.
- ^
- ^ a b Camaschella C, Campanella A, De Falco L, Boschetto L, Merlini R, Silvestri L, Levi S, Iolascon A (2007). "The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload". Blood. 110 (4): 1353–8. doi:10.1182/blood-2007-02-072520. PMID 17485548.
- ^ Camaschella C (Oct 2008). "Recent advances in the understanding of inherited sideroblastic anaemia". British Journal of Haematology. 143 (1): 27–38. doi:10.1111/j.1365-2141.2008.07290.x. PMID 18637800. S2CID 11780617.
- ^ Baker PR, Friederich MW, Swanson MA, Shaikh T, Bhattacharya K, Scharer GH, Aicher J, Creadon-Swindell G, Geiger E, MacLean KN, Lee WT, Deshpande C, Freckmann ML, Shih LY, Wasserstein M, Rasmussen MB, Lund AM, Procopis P, Cameron JM, Robinson BH, Brown GK, Brown RM, Compton AG, Dieckmann CL, Collard R, Coughlin CR, Spector E, Wempe MF, Van Hove JL (Feb 2014). "Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5". Brain. 137 (Pt 2): 366–79. doi:10.1093/brain/awt328. PMC 3914472. PMID 24334290.
Further reading
- Davis DA, Newcomb FM, Starke DW, Ott DE, Mieyal JJ, Yarchoan R (Oct 1997). "Thioltransferase (glutaredoxin) is detected within HIV-1 and can regulate the activity of glutathionylated HIV-1 protease in vitro". The Journal of Biological Chemistry. 272 (41): 25935–40. doi:10.1074/jbc.272.41.25935. PMID 9325327.
- Camaschella C, Campanella A, De Falco L, Boschetto L, Merlini R, Silvestri L, Levi S, Iolascon A (Aug 2007). "The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload". Blood. 110 (4): 1353–8. doi:10.1182/blood-2007-02-072520. PMID 17485548.
- Bergmann AK, Campagna DR, McLoughlin EM, Agarwal S, Fleming MD, Bottomley SS, Neufeld EJ (Feb 2010). "Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations". Pediatric Blood & Cancer. 54 (2): 273–8. doi:10.1002/pbc.22244. PMC 2843911. PMID 19731322.
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