• Gene id: 138162

Gene Summary

• Gene Symbol: C9orf116   Gene   UCSC   Ensembl
• Aliases: PIERCE1, RbEST47
• Gene name: chromosome 9 open reading frame 116
• Alternate names: UPF0691 protein C9orf116, p53-induced expression 1 in Rb-/- cells, p53-induced expression 1 in Rba^'/a^' cells, p53-induced expression in RB-null cells protein 1, pierce 1,
• Gene location: 9q34.3 (135499868: 135495180)     Exons: 3     NC_000009.12
• OMIM: 614502

Protein Summary

• Protein general information: Q5BN46  
  • Name: UPF0691 protein C9orf116 (p53 induced expression in RB null cells protein 1) (Pierce1)
  • Length: 136  
  • Mass: 15260
• Sequence:

  MAEECPRACAEPVAPKATAPPERTSDYYRVSADLPGRFNNPGWFRGYRTQKAVSVYRTSNQAYGSRAPTVHEMPK
  VFYPNSNKFSQQLAAGGMFRNNTLNVYLEKSIVTGPDNCITSCDRLNFHPSYNINRPSICD

• Structural information:
  • Interpro: IPR026507  
  • STRING: ENSP00000395281
• Other Databases: GeneCards:  C9orf116  Malacards:  C9orf116

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0071494	cellular response to UV-C	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0007368	determination of left/right symmetry	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
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
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray