• Gene id: 148423

Gene Summary

• Gene Symbol: C1orf52   Gene   UCSC   Ensembl
• Aliases: gm117
• Gene name: chromosome 1 open reading frame 52
• Alternate names: UPF0690 protein C1orf52, BCL10-associated gene protein,
• Gene location: 1p22.3 (26514030: 26658174)     Exons: 16     NC_000008.11

Protein Summary

• Protein general information: Q8N6N3  
  • Name: UPF0690 protein C1orf52 (BCL10 associated gene protein)
  • Length: 182  
  • Mass: 20599
  • Tissue specificity: Expressed in all tissues tested including heart, placenta, liver, skeletal muscle, kidney and pancreas. Weak expression in brain and lung. {ECO
• Sequence:

  MAAEEKDPLSYFAAYGSSSSGSSDEEDNIEPEETSRRTPDPAKSAGGCRNKAEKRLPGPDELFRSVTRPAFLYNP
  LNKQIDWERHVVKAPEEPPKEFKIWKSNYVPPPETYTTEKKPPPPELDMAIKWSNIYEDNGDDAPQNAKKARLLP
  EGEETLESDDEKDEHTSKKRKVEPGEPAKKKK

• Structural information:
  • Interpro: IPR029089  
  • STRING: ENSP00000419417
• Other Databases: GeneCards:  C1orf52  Malacards:  C1orf52

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005654	nucleoplasm	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function

Diseases

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