• Gene id: 203069

Gene Summary

• Gene Symbol: R3HCC1   Gene   UCSC   Ensembl
• Gene name: R3H domain and coiled-coil containing 1
• Alternate names: R3H and coiled-coil domain-containing protein 1,
• Gene location: 8p21.3 (23288091: 23296278)     Exons: 24     NC_000008.11

Protein Summary

• Protein general information: Q9Y3T6  
  • Name: R3H and coiled coil domain containing protein 1
  • Length: 440  
  • Mass: 49092
• Sequence:

  MALLCLDGVFLSSAENDFVHRIQEELDRFLLQKQLSKVLLFPPLSSRLRYLIHRTAENFDLLSSFSVGEGWKRRT
  VICHQDIRVPSSDGLSGPCRAPASCPSRYHGPRPISNQGAAAVPRGARAGRWYRGRKPDQPLYVPRVLRRQEEWG
  LTSTSVLKREAPAGRDPEEPGDVGAGDPNSDQGLPVLMTQGTEDLKGPGQRCENEPLLDPVGPEPLGPESQSGKG
  DMVEMATRFGSTLQLDLEKGKESLLEKRLVAEEEEDEEEVEEDGPSSCSEDDYSELLQEITDNLTKKEIQIEKIH
  LDTSSFVEELPGEKDLAHVVEIYDFEPALKTEDLLATFSEFQEKGFRIQWVDDTHALGIFPCLASAAEALTREFS
  VLKIRPLTQGTKQSKLKALQRPKLLRLVKERPQTNATVARRLVARALGLQHKKKERPAVRGPLPP

• Structural information:
  • Protein Domains: (16..8-)
    (/note="R3H-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00382"-)
  • Interpro: IPR012677  IPR001374  IPR036867  IPR039884  
  • Prosite: PS51061
  • STRING: ENSP00000265806
• Other Databases: GeneCards:  R3HCC1  Malacards:  R3HCC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035145	exon-exon junction complex	IBA	colocalizes with
GO:0003676	nucleic acid binding	IEA	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq