• Gene id: 27247

Gene Summary

• Gene Symbol: NFU1   Gene   UCSC   Ensembl
• Aliases: CGI-33, HIRIP, HIRIP5, MMDS1, NIFUC, Nfu, NifU
• Gene name: NFU1 iron-sulfur cluster scaffold
• Alternate names: NFU1 iron-sulfur cluster scaffold homolog, mitochondrial, HIRA-interacting protein 5, NifU-like C-terminal domain containing, iron-sulfur cluster scaffold protein,
• Gene location: 2p13.3 (123275540: 123248449)     Exons: 5     NC_000008.11
• Gene summary(Entrez): This gene encodes a protein that is localized to mitochondria and plays a critical role in iron-sulfur cluster biogenesis. The encoded protein assembles and transfers 4Fe-4S clusters to target apoproteins including succinate dehydrogenase and lipoic acid
• OMIM: 608100

Protein Summary

• Protein general information: Q9UMS0  
  • Name: NFU1 iron sulfur cluster scaffold homolog, mitochondrial (HIRA interacting protein 5)
  • Length: 254  
  • Mass: 28463
  • Tissue specificity: Ubiquitous. Expression in adult lung is weak compared to fetal lung. {ECO
• Sequence:

  MAATARRGWGAAAVAAGLRRRFCHMLKNPYTIKKQPLHQFVQRPLFPLPAAFYHPVRYMFIQTQDTPNPNSLKFI
  PGKPVLETRTMDFPTPAAAFRSPLARQLFRIEGVKSVFFGPDFITVTKENEELDWNLLKPDIYATIMDFFASGLP
  LVTEETPSGEAGSEEDDEVVAMIKELLDTRIRPTVQEDGGDVIYKGFEDGIVQLKLQGSCTSCPSSIITLKNGIQ
  NMLQFYIPEVEGVEQVMDDESDEKEANSP

• Structural information:
  • Interpro: IPR034904  IPR014824  IPR036498  IPR035433  IPR001075  
  • PDB: 2LTM 2M5O
  • PDBsum: 2LTM 2M5O
  • STRING: ENSP00000387219
• Other Databases: GeneCards:  NFU1  Malacards:  NFU1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0097428	protein maturation by iron-sulfur cluster transfer	IBA	biological process
GO:0051539	4 iron, 4 sulfur cluster binding	IBA	molecular function
GO:0016226	iron-sulfur cluster assembly	IBA	biological process
GO:0005506	iron ion binding	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0016226	iron-sulfur cluster assembly	IDA	biological process
GO:0051539	4 iron, 4 sulfur cluster binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0016226	iron-sulfur cluster assembly	IEA	biological process
GO:0051536	iron-sulfur cluster binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0051536	iron-sulfur cluster binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0016226	iron-sulfur cluster assembly	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0005506	iron ion binding	IDA	molecular function
GO:0051539	4 iron, 4 sulfur cluster binding	IDA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component

Diseases

Associated diseases	References
Multiple mitochondrial dysfunctions syndrome	KEGG:H01894
Multiple mitochondrial dysfunctions syndrome	KEGG:H01894
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)