• Gene id: 9391

Gene Summary

• Gene Symbol: CIAO1   Gene   UCSC   Ensembl
• Aliases: CIA1, WDR39
• Gene name: cytosolic iron-sulfur assembly component 1
• Alternate names: probable cytosolic iron-sulfur protein assembly protein CIAO1, WD repeat domain 39, WD repeat-containing protein 39, WD40 protein Ciao1, cytosolic iron-sulfur protein assembly 1 homolog,
• Gene location: 2q11.2 (96266158: 96274172)     Exons: 7     NC_000002.12
• OMIM: 604333

Protein Summary

• Protein general information: O76071  
  • Name: Probable cytosolic iron sulfur protein assembly protein CIAO1 (WD repeat containing protein 39)
  • Length: 339  
  • Mass: 37840
• Sequence:

  MKDSLVLLGRVPAHPDSRCWFLAWNPAGTLLASCGGDRRIRIWGTEGDSWICKSVLSEGHQRTVRKVAWSPCGNY
  LASASFDATTCIWKKNQDDFECVTTLEGHENEVKSVAWAPSGNLLATCSRDKSVWVWEVDEEDEYECVSVLNSHT
  QDVKHVVWHPSQELLASASYDDTVKLYREEEDDWVCCATLEGHESTVWSLAFDPSGQRLASCSDDRTVRIWRQYL
  PGNEQGVACSGSDPSWKCICTLSGFHSRTIYDIAWCQLTGALATACGDDAIRVFQEDPNSDPQQPTFSLTAHLHQ
  AHSQDVNCVAWNPKEPGLLASCSDDGEVAFWKYQRPEGL

• Structural information:
  • Interpro: IPR028608  IPR015943  IPR001680  IPR019775  IPR017986   IPR036322  
  • Prosite: PS00678 PS50082 PS50294
  • PDB: 3FM0
  • PDBsum: 3FM0
  • STRING: ENSP00000418287
• Other Databases: GeneCards:  CIAO1  Malacards:  CIAO1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0097361	CIA complex	IBA	cellular component
GO:0016226	iron-sulfur cluster assembly	IBA	biological process
GO:0097361	CIA complex	IDA	cellular component
GO:0097361	CIA complex	IDA	cellular component
GO:0097361	CIA complex	IDA	cellular component
GO:0097361	CIA complex	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0071817	MMXD complex	IDA	cellular component
GO:0097428	protein maturation by iron-sulfur cluster transfer	IMP	biological process
GO:0016226	iron-sulfur cluster assembly	IMP	biological process
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:0016226	iron-sulfur cluster assembly	IEA	biological process
GO:0097361	CIA complex	IEA	cellular component
GO:0007059	chromosome segregation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	TAS	biological process
GO:0008284	positive regulation of cell population proliferation	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: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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0097361	CIA complex	IEA	cellular component
GO:0016226	iron-sulfur cluster assembly	IEA	biological process
GO:0071817	MMXD complex	IEA	cellular component
GO:0016226	iron-sulfur cluster assembly	IGI	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq