NFS1 - NFS1 cysteine desulfurase Gene
Also Known as IscS; NIFS; COXPD52; HUSSY-08
Species: Homo sapiens
About NFS1
This gene has 14 transcripts (splice variants), 207 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in kidney (RPKM 16.1), testis (RPKM 12.1) and 25 other tissues.
Summary
Iron-sulfur clusters are required for the function of many cellular Enzymes. The proteins encoded by this gene supply inorganic sulfur to these clusters by removing the sulfur from cysteine, creating alanine in the process. This gene uses alternate in-frame translation initiation sites to generate mitochondrial forms and cytoplasmic/nuclear forms. Selection of the alternative initiation sites is determined by the cytosolic pH. The encoded proteins belong to the class-V family of pyridoxal phosphate-dependent aminotransferases. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2010]
NFS1 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001198989.2 | NP_001185918.1 | cysteine desulfurase, mitochondrial isoform b precursor |
| NM_021100.5 | NP_066923.3 | cysteine desulfurase, mitochondrial isoform a precursor |
NFS1 Protein Structure
Aminotran_5: Aminotransferase class-V (60 - 421)
- 0
- 100
- 200
- 300
- 400
- 457 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
cysteine desulfurase, mitochondrial |
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Related Diseases
| Diseases | Alias | |
|---|---|---|
| Combined Oxidative Phosphorylation Deficiency 52 |
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| Combined Oxidative Phosphorylation Deficiency 19 |
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| Combined Oxidative Phosphorylation Deficiency |
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| Autosomal Recessive Cerebellar Ataxia |
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| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
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| Hereditary Ataxia |
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| Cerebellar Disease |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | NFS1 | RGD | RGD:620912 |
| Felis catus | NFS1 | VGNC | VGNC:99687 |
| Canis familiaris | NFS1 | VGNC | VGNC:99670 |
| Bos taurus | NFS1 | VGNC | VGNC:99675 |
| Mus musculus | NFS1 | MGD | MGI:1316706 |
| Macaca mulatta | NFS1 | VGNC | VGNC:97105 |
| Others | NFS1 | NCBI |