• Gene id: 246243

Gene Summary

• Gene Symbol: RNASEH1   Gene   UCSC   Ensembl
• Aliases: H1RNA, PEOB2, RNH1
• Gene name: ribonuclease H1
• Alternate names: ribonuclease H1, ribonuclease H type II,
• Gene location: 2p25.3 (3558366: 3531812)     Exons: 15     NC_000002.12
• Gene summary(Entrez): This gene encodes an endonuclease that specifically degrades the RNA of RNA-DNA hybrids and plays a key role in DNA replication and repair. Alternate in-frame start codon initiation results in the production of alternate isoforms that are directed to the
• OMIM: 171760

Protein Summary

• Protein general information: O60930  
  • Name: Ribonuclease H1 (RNase H1) (EC 3.1.26.4) (Ribonuclease H type II)
  • Length: 286  
  • Mass: 32064
  • Tissue specificity: Ubiquitous.
• Sequence:

  MSWLLFLAHRVALAALPCRRGSRGFGMFYAVRRGRKTGVFLTWNECRAQVDRFPAARFKKFATEDEAWAFVRKSA
  SPEVSEGHENQHGQESEAKASKRLREPLDGDGHESAEPYAKHMKPSVEPAPPVSRDTFSYMGDFVVVYTDGCCSS
  NGRRRPRAGIGVYWGPGHPLNVGIRLPGRQTNQRAEIHAACKAIEQAKTQNINKLVLYTDSMFTINGITNWVQGW
  KKNGWKTSAGKEVINKEDFVALERLTQGMDIQWMHVPGHSGFIGNEEADRLAREGAKQSED

• Structural information:
  • Protein Domains: (136..28-)
    (/note="RNase-H)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00408"-)
  • Interpro: IPR009027  IPR017067  IPR011320  IPR037056  IPR012337   IPR002156  IPR036397  
  • Prosite: PS50879
  • PDB: 2QK9 2QKB 2QKK 3BSU
  • PDBsum: 2QK9 2QKB 2QKK 3BSU
  • STRING: ENSP00000313350
• Other Databases: GeneCards:  RNASEH1  Malacards:  RNASEH1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043137	DNA replication, removal of RNA primer	IBA	biological process
GO:0004523	RNA-DNA hybrid ribonuclease activity	IBA	molecular function
GO:0090502	RNA phosphodiester bond hydrolysis, endonucleolytic	IBA	biological process
GO:0004523	RNA-DNA hybrid ribonuclease activity	IDA	molecular function
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0004523	RNA-DNA hybrid ribonuclease activity	IEA	molecular function
GO:0004518	nuclease activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004519	endonuclease activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0003676	nucleic acid binding	TAS	molecular function
GO:0003723	RNA binding	TAS	molecular function
GO:0004540	ribonuclease activity	TAS	molecular function
GO:0006401	RNA catabolic process	TAS	biological process
GO:0004523	RNA-DNA hybrid ribonuclease activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03030	DNA replication

Diseases

Associated diseases	References
Autosomal recessive progressive external ophthalmoplegia	KEGG:H01395
Autosomal recessive progressive external ophthalmoplegia	KEGG:H01395
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq