RNASEH1
entrez
246243
canonical
uniprot
O60930
canonical
ensembl
ENSG00000171865
resolver
ensembl
ENSG00000286905
resolver
ensp
ENSP00000313350
resolver
ensp
ENSP00000499330
resolver
ensp
ENSP00000499604
resolver
ensp
ENSP00000638563
resolver
ensp
ENSP00000717322
resolver
enst
ENST00000315212
resolver
enst
ENST00000654051
resolver
enst
ENST00000658393
resolver
genesymbol
RNASEH1
resolver
genesymbol_syn
RNH1
resolver
hgnc
HGNC:18466
resolver
uniprot
B3KQU4
resolver
uniprot
B3KUD4
resolver
uniprot
E5KN15
resolver
uniprot
O60523
resolver
uniprot
O60857
resolver
uniprot
Q57Z93
resolver
uniprot
Q5U0C1
resolver
uniprot
Q6FHD4
resolver
uniprot_entry
B3KUD4_HUMAN
resolver
uniprot_entry
E5KN15_HUMAN
resolver
uniprot_entry
RNH1_HUMAN
resolver
uniprot_sec
B3KQU4
resolver
uniprot_sec
O60523
resolver
uniprot_sec
O60857
resolver
uniprot_sec
Q57Z93
resolver
uniprot_sec
Q5U0C1
resolver
uniprot_sec
Q6FHD4
resolver
activity_regulation
ACTIVITY REGULATION: In the presence of magnesium, manganese is inhibitory.
uniprot
proteins
amino_acid_sequence
MSWLLFLAHRVALAALPCRRGSRGFGMFYAVRRGRKTGVFLTWNECRAQVDRFPAARFKKFATEDEAWAFVRKSASPEVSEGHENQHGQESEAKASKRLREPLDGDGHESAEPYAKHMKPSVEPAPPVSRDTFSYMGDFVVVYTDGCCSSNGRRRPRAGIGVYWGPGHPLNVGIRLPGRQTNQRAEIHAACKAIEQAKTQNINKLVLYTDSMFTINGITNWVQGWKKNGWKTSAGKEVINKEDFVALERLTQGMDIQWMHVPGHSGFIGNEEADRLAREGAKQSED
uniprot
proteins
disease_involvement
DISEASE: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 (PEOB2) [MIM:616479]: A form of progressive external ophthalmoplegia, a mitochondrial myopathy characterized by progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. PEOB2 patients manifest exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia, such as impaired gait and dysarthria. Some patients may have respiratory insufficiency. {ECO:0000269|PubMed:26094573}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.26.4
uniprot
proteins
function
FUNCTION: Endonuclease that specifically degrades the RNA of RNA-DNA hybrids (PubMed:10497183). Plays a role in RNA polymerase II (RNAp II) transcription termination by degrading R-loop RNA-DNA hybrid formation at G-rich pause sites located downstream of the poly(A) site and behind the elongating RNAp II (PubMed:21700224). {ECO:0000269|PubMed:10497183, ECO:0000269|PubMed:21700224}.
uniprot
proteins
mass_dalton
32064
uniprot
proteins
protein_family
RNase H family
uniprot
proteins
pubmed
10497183
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16303743
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21700224
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
26094573
uniprot
proteins
pubmed
9512096
uniprot
proteins
pubmed
9799596
uniprot
proteins
pubmed
9894807
uniprot
proteins
sequence_length
286
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
uniprot
proteins