• Gene id: 23518

Gene Summary

• Gene Symbol: R3HDM1   Gene   UCSC   Ensembl
• Aliases: R3HDM
• Gene name: R3H domain containing 1
• Alternate names: R3H domain-containing protein 1, R3H domain (binds single-stranded nucleic acids) containing,
• Gene location: 2q21.3 (135531428: 135725269)     Exons: 34     NC_000002.12

Protein Summary

• Protein general information: Q15032  
  • Name: R3H domain containing protein 1
  • Length: 1099  
  • Mass: 120696
• Sequence:

  MRMSDTVTVKDETATMKDLEAEVKDTTRVENLIKSENYGKILVEKNEHCIENNIDLQRPLQSFGQTGKRSKSSSK
  LKLVRSLAVCEESPPPPAPEISQENQEKIQIQLTQSFEKEEKPSKDEAEKEKASDKLPRKMLSRDSSQEYTDSTG
  IDLHEFLVNTLKNNPRDRMMLLKLEQEILDFIGNNESPRKKFPPMTSYHRMLLHRVAAYFGLDHNVDQSGKSVIV
  NKTSNTRIPDQKFNEHIKDDKGEDFQKRYILKRDNSSFDKDDNQMRIRLKDDRRSKSIEEREEEYQRARDRIFSQ
  DSLCSQENYIIDKRLQDEDASSTQQRRQIFRVNKDASGRSTNSHQSSTENELKYSEPRPWSSTDSDSSLRNLKPA
  VTKASSFSGISVLTRGDSSGSSKSIGRLSKTGSESSGSVGSSTGSLSHIQQPLPGTALSQSSHGAPVVYPTVSTH
  SSLSFDGGLNGQVASPSTSFFLLPLEAAGIPPGSILINPQTGQPFINPDGSPVVYNPPMTQQPVRSQVPGPPQPP
  LPAPPQQPAANHIFSQDNLGSQFSHMSLARQPSADGSDPHAAMFQSTVVLQSPQQSGYIMTAAPPPHPPPPPPPP
  PPPPPLPPGQPVPTAGYPASGHPVSQPVLQQQGYIQQPSPQMPACYCAPGHYHSSQPQYRPVPSVHYNSHLNQPL
  PQPAQQTGYQVIPNQQQNYQGIVGVQQPQSQSLVSGQPNSIGNQIQGVVIPYTSVPTYQVSLPQGSQGIPHQTYQ
  QPVMFPNQSNQGSMPTTGMPVYYSVIPPGQQNNLSSSVGYLQHPGSEQVQFPRTTSPCSSQQLQGHQCTAGPPPP
  PGGGMVMMQLSVPNNPQSCAHSPPQWKQNKYYCDHQRGQKCVEFSSVDNIVQHSPQLSSPIISPAQSPAPAQLST
  LKTVRPSGPPLSIMPQFSRPFVPGQGDSRYPLLGQPLQYNPPAVLHGHIPNQQGQPGSRHGNRGRRQAKKAASTD
  LGAGETVVGKVLEITELPDGITRMEAEKLFGELFKIGAKIRWLRDPQSQPRRHPLCCGSGDNTANPERSKPSDLA
  STYTVLATFPSISAAQNALKKQINSVNKFKLRTSKKHYDFHILERASSQ

• Structural information:
  • Protein Domains: (168..23-)
    (/note="R3H-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00382-)
    (232..30-)
    (/note="SUZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01009"-)
  • Interpro: IPR001374  IPR036867  IPR024771  
  • Prosite: PS51061 PS51673
  • STRING: ENSP00000387010
• Other Databases: GeneCards:  R3HDM1  Malacards:  R3HDM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	HDA	molecular function
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			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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881