RNASEH1 (ribonuclease H1)

2014-11-01  

Identity

HGNC
LOCATION
2p25.3
LOCUSID
ALIAS
H1RNA,PEOB2,RNH1

Other Information

Locus ID:

NCBI: 246243
MIM: 604123
HGNC: 18466
Ensembl: ENSG00000171865

Variants:

dbSNP: 246243
ClinVar: 246243
TCGA: ENSG00000171865
COSMIC: RNASEH1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000171865ENST00000315212O60930
ENSG00000171865ENST00000315212E5KN15
ENSG00000171865ENST00000436842F8WD93
ENSG00000171865ENST00000454734F8WBP0

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
DNA replicationKEGGko03030
DNA replicationKEGGhsa03030

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
179642652007Structure of human RNase H1 complexed with an RNA/DNA hybrid: insight into HIV reverse transcription.131
253308492014RNaseH1 regulates TERRA-telomeric DNA hybrids and telomere maintenance in ALT tumour cells.102
149605862004Determination of the role of the human RNase H1 in the pharmacology of DNA-like antisense drugs.85
282577002017Functions of Replication Protein A as a Sensor of R Loops and a Regulator of RNaseH1.59
183377492008Specific recognition of RNA/DNA hybrid and enhancement of human RNase H1 activity by HBD.33
170281582007Human RNase H1 discriminates between subtle variations in the structure of the heteroduplex substrate.29
152054592004Structural requirements at the catalytic site of the heteroduplex substrate for human RNase H1 catalysis.27
260945732015RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy.26
274027642016Pathological ribonuclease H1 causes R-loop depletion and aberrant DNA segregation in mitochondria.23
239909202013Human RNase H1 is associated with protein P32 and is involved in mitochondrial pre-rRNA processing.18

Citation

Dessen P

RNASEH1 (ribonuclease H1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72673/rnaseh1