• Gene id: 200205

Gene Summary

• Gene Symbol: IBA57   Gene   UCSC   Ensembl
• Aliases: C1orf69, MMDS3, SPG74
• Gene name: iron-sulfur cluster assembly factor IBA57
• Alternate names: putative transferase CAF17, mitochondrial, IBA57 homolog, iron-sulfur cluster assembly, IBA57, iron-sulfur cluster assembly homolog, iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa, puta,
• Gene location: 1q42.13 (228165803: 228182256)     Exons: 4     NC_000001.11
• Gene summary(Entrez): The protein encoded by this gene localizes to the mitochondrion and is part of the iron-sulfur cluster assembly pathway. The encoded protein functions late in the biosynthesis of mitochondrial 4Fe-4S proteins. Defects in this gene have been associated wit
• OMIM: 615316

Protein Summary

• Protein general information: Q5T440  
  • Name: Putative transferase CAF17, mitochondrial (EC 2.1. . ) (Iron sulfur cluster assembly factor homolog)
  • Length: 356  
  • Mass: 38155
  • Tissue specificity: Expressed in skin fibroblasts and skeletal muscle (at protein level). {ECO
• Sequence:

  MATAALLRGATPGRGGPVWRWRLRAAPRCRLAHSSCSPGGDPTAGAAWACFRLDGRTLLRVRGPDAAPFLLGLLT
  NELPLPSPAAAGAPPAARAGYAHFLNVQGRTLYDVILYGLQEHSEVSGFLLECDSSVQGALQKHLALYRIRRKVT
  VEPHPELRVWAVLPSSPEACGAASLQERAGAAAILIRDPRTARMGWRLLTQDEGPALVPGGRLGDLWDYHQHRYL
  QGVPEGVRDLPPGVALPLESNLAFMNGVSFTKGCYIGQELTARTHHMGVIRKRLFPVRFLDPLPTSGITPGATVL
  TASGQTVGKFRAGQGNVGLALLWSEKIKGPLHIRASEGAQVALAASVPDWWPTVSK

• Structural information:
  • Interpro: IPR027266  IPR017703  
  • PDB: 6GEU 6QE3 6QE4
  • PDBsum: 6GEU 6QE3 6QE4
  • STRING: ENSP00000355672
• Other Databases: GeneCards:  IBA57  Malacards:  IBA57

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016226	iron-sulfur cluster assembly	IBA	biological process
GO:0005759	mitochondrial matrix	IBA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0006783	heme biosynthetic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Hereditary spastic paraplegia	KEGG:H00266
Multiple mitochondrial dysfunctions syndrome	KEGG:H01894
Hereditary spastic paraplegia	KEGG:H00266
Multiple mitochondrial dysfunctions syndrome	KEGG:H01894
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)