• Gene id: 152100

Gene Summary

• Gene Symbol: CMC1   Gene   UCSC   Ensembl
• Aliases: C3orf68
• Gene name: C-X9-C motif containing 1
• Alternate names: COX assembly mitochondrial protein homolog, C-x(9)-C motif containing 1, COX assembly mitochondrial protein 1 homolog, CX9C mitochondrial protein required for full expression of COX 1, cmc1p, mitochondrial metallochaperone-like protein,
• Gene location: 3p24.1 (28241592: 28325141)     Exons: 15     NC_000003.12
• OMIM: 615166

Protein Summary

• Protein general information: Q7Z7K0  
  • Name: COX assembly mitochondrial protein homolog (Cmc1p)
  • Length: 106  
  • Mass: 12490
• Sequence:

  MALDPADQHLRHVEKDVLIPKIMREKAKERCSEQVQDFTKCCKNSGVLMVVKCRKENSALKECLTAYYNDPAFYE
  ECKMEYLKEREEFRKTGIPTKKRLQKLPTSM

• Structural information:
  • Protein Domains: (28..7-)
    (/note="CHCH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01150"-)
  • Interpro: IPR013892  
  • Prosite: PS51808
  • STRING: ENSP00000418348
• Other Databases: GeneCards:  CMC1  Malacards:  CMC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IBA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component

Diseases

Associated diseases	References
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)