GLRX5 - glutaredoxin 5 Gene
Also Known as GRX5; PRSA; SIDBA3; SPAHGC; FLB4739; PR01238; PRO1238; C14orf87
Species: Homo sapiens
About GLRX5
This gene has 3 transcripts (splice variants), 203 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in bone marrow (RPKM 64.9), kidney (RPKM 37.3) and 25 other tissues.
Summary
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]
GLRX5 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_016417.3 | NP_057501.2 | glutaredoxin-related protein 5, mitochondrial precursor |
| Molecular Function GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
24606901 | GOA |
| Biological Process GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| involved in [2Fe-2S] cluster assembly |
IGI
IGI: Inferred from genetic interaction
|
23615440 | GOA |
| involved in protein maturation by [2Fe-2S] cluster transfer |
IGI
IGI: Inferred from genetic interaction
|
23615440 | GOA |
| involved in protein maturation by [4Fe-4S] cluster transfer |
IGI
IGI: Inferred from genetic interaction
|
23615440 | GOA |
| Cellular Component GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| part of iron-sulfur cluster assembly complex |
IPI
IPI: Inferred from physical interaction
|
27532772 | GOA |
| located in mitochondrial matrix |
IDA
IDA: Inferred from direct assay
|
20364084 | GOA |
GLRX5 Protein Structure
Glutaredoxin: Glutaredoxin (54 - 119)
- 0
- 100
- 157 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
glutaredoxin-related protein 5, mitochondrial |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
|
| Spasticity, Childhood-Onset, With Hyperglycinemia |
|
|
| Sideroblastic Anemia |
|
|
| Far Eastern Spotted Fever |
|
|
| Anemia, Sideroblastic, 1 |
|
|
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
|
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
|
| Combined Oxidative Phosphorylation Deficiency 19 |
|
|
| Multiple Mitochondrial Dysfunctions Syndrome |
|
|
| Epidemic Typhus |
|
|
| Brill-Zinsser Disease |
|
|
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
|
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
|
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
|
| Glycine Encephalopathy |
|
|
| Pearson Marrow-Pancreas Syndrome |
|
|
| Friedreich Ataxia |
|
|
| Protoporphyria, Erythropoietic, 1 |
|
|
| Microcytic Anemia |
|
|
| Leukodystrophy |
|
|
| Aplastic Anemia |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | GLRX5 | RGD | RGD:1308383 |
| Felis catus | GLRX5 | VGNC | VGNC:62593 |
| Bos taurus | GLRX5 | VGNC | VGNC:29418 |
| Mus musculus | GLRX5 | MGD | MGI:1920296 |
| Macaca mulatta | GLRX5 | VGNC | VGNC:108299 |
| Canis familiaris | GLRX5 | VGNC | VGNC:50528 |
| Others | GLRX5 | NCBI |