RNASEH2A
entrez
10535
canonical
uniprot
O75792
canonical
ensembl
ENSG00000104889
resolver
ensp
ENSP00000221486
resolver
enst
ENST00000221486
resolver
genesymbol
RNASEH2A
resolver
genesymbol_syn
RNASEHI
resolver
genesymbol_syn
RNHIA
resolver
hgnc
HGNC:18518
resolver
uniprot
B2RCY1
resolver
uniprot
Q96F11
resolver
uniprot_entry
RNH2A_HUMAN
resolver
uniprot_sec
B2RCY1
resolver
uniprot_sec
Q96F11
resolver
amino_acid_sequence
MDLSELERDNTGRCRLSSPVPAVCRKEPCVLGVDEAGRGPVLGPMVYAICYCPLPRLADLEALKVADSKTLLESERERLFAKMEDTDFVGWALDVLSPNLISTSMLGRVKYNLNSLSHDTATGLIQYALDQGVNVTQVFVDTVGMPETYQARLQQSFPGIEVTVKAKADALYPVVSAASICAKVARDQAVKKWQFVEKLQDLDTDYGSGYPNDPKTKAWLKEHVEPVFGFPQFVRFSWRTAQTILEKEAEDVIWEDSASENQEGLRKITSYFLNEGSQARPRSSHRYFLERGLESATSL
uniprot
proteins
disease_involvement
DISEASE: Aicardi-Goutieres syndrome 4 (AGS4) [MIM:610333]: A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. {ECO:0000269|PubMed:16845400, ECO:0000269|PubMed:17846997, ECO:0000269|PubMed:20131292}. 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: Catalytic subunit of RNase HII, an endonuclease that specifically degrades the RNA of RNA:DNA hybrids. Participates in DNA replication, possibly by mediating the removal of lagging-strand Okazaki fragment RNA primers during DNA replication. Mediates the excision of single ribonucleotides from DNA:RNA duplexes. {ECO:0000269|PubMed:16845400, ECO:0000269|PubMed:21177858}.
uniprot
proteins
mass_dalton
33395
uniprot
proteins
mutagenesis
MUTAGEN 67; /note="D->A: Loss of enzyme activity."; /evidence="ECO:0000269|PubMed:21177858"; MUTAGEN 69; /note="K->A: Strongly reduced enzyme activity."; /evidence="ECO:0000269|PubMed:21177858"; MUTAGEN 112; /note="N->A: Reduced enzyme activity."; /evidence="ECO:0000269|PubMed:21177858"; MUTAGEN 210; /note="Y->A: Strongly reduced enzyme activity."; /evidence="ECO:0000269|PubMed:21177858"; MUTAGEN 210; /note="Y->F: Loss of enzyme activity."; /evidence="ECO:0000269|PubMed:21177858"; MUTAGEN 240; /note="T->A: Strongly reduced enzyme activity."; /evidence="ECO:0000269|PubMed:21177858
uniprot
proteins
protein_family
Eukaryotic subfamily
uniprot
proteins
protein_family
RNase HII family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16845400
uniprot
proteins
pubmed
17846997
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20131292
uniprot
proteins
pubmed
21177858
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
9789007
uniprot
proteins
sequence_length
299
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
uniprot
proteins