• Gene id: 55847

Gene Summary

• Gene Symbol: CISD1   Gene   UCSC   Ensembl
• Aliases: C10orf70, MDS029, ZCD1, mitoNEET
• Gene name: CDGSH iron sulfur domain 1
• Alternate names: CDGSH iron-sulfur domain-containing protein 1, zinc finger CDGSH-type domain 1,
• Gene location: 10q21.1 (58269161: 58289585)     Exons: 3     NC_000010.11
• Gene summary(Entrez): This gene encodes a protein with a CDGSH iron-sulfur domain and has been shown to bind a redox-active [2Fe-2S] cluster. The encoded protein has been localized to the outer membrane of mitochondria and is thought to play a role in regulation of oxidation.
• OMIM: 611932

Protein Summary

• Protein general information: Q9NZ45  
  • Name: CDGSH iron sulfur domain containing protein 1 (MitoNEET)
  • Length: 108  
  • Mass: 12199
  • Tissue specificity: Expression is reduced in cells derived from cystic fibrosis patients. {ECO
• Sequence:

  MSLTSSSSVRVEWIAAVTIAAGTAAIGYLAYKRFYVKDHRNKAMINLHIQKDNPKIVHAFDMEDLGDKAVYCRCW
  RSKKFPFCDGAHTKHNEETGDNVGPLIIKKKET

• Structural information:
  • Interpro: IPR018967  IPR042216  IPR019610  
  • PDB: 2QD0 2QH7 2R13 3EW0 3LPQ 3REE 4EZF 4F1E 4F28 4F2C 6DE9
  • PDBsum: 2QD0 2QH7 2R13 3EW0 3LPQ 3REE 4EZF 4F1E 4F28 4F2C 6DE9
  • DIP: 46446
  • STRING: ENSP00000363041
• Other Databases: GeneCards:  CISD1  Malacards:  CISD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0051537	2 iron, 2 sulfur cluster binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0051537	2 iron, 2 sulfur cluster binding	IEA	molecular function
GO:0051536	iron-sulfur cluster binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0032473	cytoplasmic side of mitochondrial outer membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0043457	regulation of cellular respiration	IEA	biological process
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	HDA	cellular component
GO:0005739	mitochondrion	ISS	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R