• Gene id: 51759

Gene Summary

• Gene Symbol: C9orf78   Gene   UCSC   Ensembl
• Aliases: CSU2, HCA59, HSPC220, bA409K20.3
• Gene name: chromosome 9 open reading frame 78
• Alternate names: telomere length and silencing protein 1 homolog, hepatocellular carcinoma-associated antigen 59, uncharacterized protein C9orf78,
• Gene location: 9q34.11 (129835306: 129827289)     Exons: 9     NC_000009.12

Protein Summary

• Protein general information: Q9NZ63  
  • Name: Telomere length and silencing protein 1 homolog (Hepatocellular carcinoma associated antigen 59)
  • Length: 289  
  • Mass: 33688
• Sequence:

  MPVVRKIFRRRRGDSESEEDEQDSEEVRLKLEETREVQNLRKRPNGVSAVALLVGEKVQEETTLVDDPFQMKTGG
  MVDMKKLKERGKDKISEEEDLHLGTSFSAETNRRDEDADMMKYIETELKKRKGIVEHEEQKVKPKNAEDCLYELP
  ENIRVSSAKKTEEMLSNQMLSGIPEVDLGIDAKIKNIISTEDAKARLLAEQQNKKKDSETSFVPTNMAVNYVQHN
  RFYHEELNAPIRRNKEEPKARPLRVGDTEKPEPERSPPNRKRPANEKATDDYHYEKFKKMNRRY

• Structural information:
  • Interpro: IPR010756  
  • STRING: ENSP00000361524
• Other Databases: GeneCards:  C9orf78  Malacards:  C9orf78

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005681	spliceosomal complex	IBA	cellular component
GO:0048024	regulation of mRNA splicing, via spliceosome	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)