2. Gene
  3. NFS1 - NFS1 cysteine desulfurase Gene

NFS1 - NFS1 cysteine desulfurase Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as IscS; NIFS; COXPD52; HUSSY-08

Gene ID: 9054 | Gene type: protein coding

About NFS1

Cytogenetic location: 20q11.22 Genomic coordinates (GRCh38): 20:35,668,052-35,699,352 (from NCBI)

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

Aminotran_5: Aminotransferase class-V (60 - 421)

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  • 457 a.a.
Protein Preferred Names Protein Names

cysteine desulfurase, mitochondrial

NFS1 nitrogen fixation 1 homolog

Related Diseases

Diseases Alias
Combined Oxidative Phosphorylation Deficiency 52

COXPD52
Combined Oxidative Phosphorylation Deficiency 19

COXPD19

Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency

Combined Oxidative Phosphorylation Deficiency, Type 19
Combined Oxidative Phosphorylation Deficiency
Autosomal Recessive Cerebellar Ataxia

Arca
Anemia, Sideroblastic, And Spinocerebellar Ataxia

X-Linked Sideroblastic Anemia With Ataxia

ASAT

X-Linked Sideroblastic Anemia And Ataxia

X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia

Anemia, Sideroblastic, With Ataxia

Anemia Sideroblastic And Spinocerebellar Ataxia

Pagon Bird Detter Syndrome

Pagon-Bird-Detter Syndrome

Xlsa-A

X-Linked Sideroblastic Anaemia And Ataxia

X-Linked Sideroblastic Anaemia With Ataxia

Sideroblastic Anemia With Spinocerebellar Ataxia

Xlsa/A

Anemia, Sideroblastic, Spinocerebellar Ataxia

Sideroblastic Anemia And Ataxia

Anemia Sideroblastic, And Spinocerebellar Ataxia
Hereditary Ataxia

Sca

Spinocerebellar Ataxia

Ataxias Hereditary

Ataxias, Hereditary
Cerebellar Disease

Cerebellar Diseases

Cerebellar Dysfunction

Cerebellar Abnormality

Cerebellar Disorders
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS09267 NFS1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

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