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
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;
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.
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.