• Gene id: 118487

Gene Summary

• Gene Symbol: CHCHD1   Gene   UCSC   Ensembl
• Aliases: C10orf34, C2360, MRP-S37
• Gene name: coiled-coil-helix-coiled-coil-helix domain containing 1
• Alternate names: coiled-coil-helix-coiled-coil-helix domain-containing protein 1, 28S ribosomal protein S37, mitochondrial, mitochondrial small ribosomal subunit protein mS37, nuclear protein C2360,
• Gene location: 10q22.2 (73782047: 73783651)     Exons: 3     NC_000010.11
• OMIM: 602327

Protein Summary

• Protein general information: Q96BP2  
  • Name: Coiled coil helix coiled coil helix domain containing protein 1 (28S ribosomal protein S37, mitochondrial) (MRP S37) (Mitochondrial small ribosomal subunit protein mS37) (Nuclear protein C2360)
  • Length: 118  
  • Mass: 13475
• Sequence:

  MATPSLRGRLARFGNPRKPVLKPNKPLILANRVGERRREKGEATCITEMSVMMACWKQNEFRDDACRKEIQGFLD
  CAARAQEARKMRSIQETLGESGSLLPNKLNKLLQRFPNKPYLS

• Structural information:
  • Protein Domains: (42..8-)
    (/note="CHCH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01150"-)
  • Interpro: IPR010625  IPR033620  IPR009069  
  • Prosite: PS51808
  • PDB: 3J9M 6NU2 6NU3
  • PDBsum: 3J9M 6NU2 6NU3
  • STRING: ENSP00000361923
• Other Databases: GeneCards:  CHCHD1  Malacards:  CHCHD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IBA	cellular component
GO:0005654	nucleoplasm	IBA	cellular component
GO:0032543	mitochondrial translation	IEA	biological process
GO:0005761	mitochondrial ribosome	IEA	cellular component
GO:0005840	ribosome	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0070125	mitochondrial translational elongation	TAS	biological process
GO:0070126	mitochondrial translational termination	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:0005739	mitochondrion	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0001650	fibrillar center	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881