• Gene id: 9054

Gene Summary

• Gene Symbol: NFS1   Gene   UCSC   Ensembl
• Aliases: HUSSY-08, IscS, NIFS
• Gene name: NFS1 cysteine desulfurase
• Alternate names: cysteine desulfurase, mitochondrial, NFS1 nitrogen fixation 1 homolog, nitrogen fixation 1 (S. cerevisiae, homolog), nitrogen-fixing bacteria S-like protein,
• Gene location: 20q11.22 (35699351: 35668051)     Exons: 14     NC_000020.11
• Gene summary(Entrez): 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-fra
• OMIM: 603485

Protein Summary

• Protein general information: Q9Y697  
  • Name: Cysteine desulfurase, mitochondrial (EC 2.8.1.7)
  • Length: 457  
  • Mass: 50196
  • Tissue specificity: Predominantly expressed in heart and skeletal muscle. Also found in brain, liver and pancreas.
• Sequence:

  MLLRAAWRRAAVAVTAAPGPKPAAPTRGLRLRVGDRAPQSAVPADTAAAPEVGPVLRPLYMDVQATTPLDPRVLD
  AMLPYLINYYGNPHSRTHAYGWESEAAMERARQQVASLIGADPREIIFTSGATESNNIAIKGVARFYRSRKKHLI
  TTQTEHKCVLDSCRSLEAEGFQVTYLPVQKSGIIDLKELEAAIQPDTSLVSVMTVNNEIGVKQPIAEIGRICSSR
  KVYFHTDAAQAVGKIPLDVNDMKIDLMSISGHKIYGPKGVGAIYIRRRPRVRVEALQSGGGQERGMRSGTVPTPL
  VVGLGAACEVAQQEMEYDHKRISKLSERLIQNIMKSLPDVVMNGDPKHHYPGCINLSFAYVEGESLLMALKDVAL
  SSGSACTSASLEPSYVLRAIGTDEDLAHSSIRFGIGRFTTEEEVDYTVEKCIQHVKRLREMSPLWEMVQDGIDLK
  SIKWTQH

• Structural information:
  • Interpro: IPR000192  IPR020578  IPR010240  IPR016454  IPR015424   IPR015422  IPR015421  
  • Prosite: PS00595
  • PDB: 5KZ5 5USR 5WGB 5WKP 5WLW 6NZU 6UXE
  • PDBsum: 5KZ5 5USR 5WGB 5WKP 5WLW 6NZU 6UXE
  • STRING: ENSP00000363205
• Other Databases: GeneCards:  NFS1  Malacards:  NFS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031071	cysteine desulfurase activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0005759	mitochondrial matrix	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0018283	iron incorporation into metallo-sulfur cluster	IDA	biological process
GO:0031071	cysteine desulfurase activity	IBA	molecular function
GO:0016226	iron-sulfur cluster assembly	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0005739	mitochondrion	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030170	pyridoxal phosphate binding	IEA	molecular function
GO:0031071	cysteine desulfurase activity	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0044571	[2Fe-2S] cluster assembly	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0006777	Mo-molybdopterin cofactor biosynthetic process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0051536	iron-sulfur cluster binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0005739	mitochondrion	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0031071	cysteine desulfurase activity	IEA	molecular function
GO:0031071	cysteine desulfurase activity	EXP	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0032324	molybdopterin cofactor biosynthetic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0044281	small molecule metabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00730	Thiamine metabolism
hsa04122	Sulfur relay system

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq