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Protein

Ribonuclease H2 subunit A

Gene

RNASEH2A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.2 Publications

Catalytic activityi

Endonucleolytic cleavage to 5'-phosphomonoester.1 Publication

Cofactori

Mn2+By similarity, Mg2+By similarityNote: Manganese or magnesium. Binds 1 divalent metal ion per monomer in the absence of substrate. May bind a second metal ion after substrate binding.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi34Divalent metal cationBy similarity1
Metal bindingi35Divalent metal cationBy similarity1
Metal bindingi141Divalent metal cationBy similarity1

GO - Molecular functioni

  • metal ion binding Source: UniProtKB-KW
  • ribonuclease activity Source: ProtInc
  • RNA binding Source: InterPro
  • RNA-DNA hybrid ribonuclease activity Source: UniProtKB

GO - Biological processi

  • DNA replication Source: UniProtKB
  • DNA replication, removal of RNA primer Source: GO_Central
  • mismatch repair Source: MGI
  • RNA catabolic process Source: UniProtKB

Keywordsi

Molecular functionEndonuclease, Hydrolase, Nuclease
LigandMetal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS02645-MONOMER

Names & Taxonomyi

Protein namesi
Recommended name:
Ribonuclease H2 subunit A (EC:3.1.26.4)
Short name:
RNase H2 subunit A
Alternative name(s):
Aicardi-Goutieres syndrome 4 protein
Short name:
AGS4
RNase H(35)
Ribonuclease HI large subunit
Short name:
RNase HI large subunit
Ribonuclease HI subunit A
Gene namesi
Name:RNASEH2A
Synonyms:RNASEHI, RNHIA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000104889.4
HGNCiHGNC:18518 RNASEH2A
MIMi606034 gene
neXtProtiNX_O75792

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Aicardi-Goutieres syndrome 4 (AGS4)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:610333
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0706232 – 3DL → YP in AGS4. 2
Natural variantiVAR_02737737G → S in AGS4; strongly impairs enzyme activity but not interaction with RNASEH2B and RNASEH2C. 2 PublicationsCorresponds to variant dbSNP:rs76857106EnsemblClinVar.1
Natural variantiVAR_070625108R → W in AGS4. 1 PublicationCorresponds to variant dbSNP:rs76436818EnsemblClinVar.1
Natural variantiVAR_070626186R → W in AGS4. 2 PublicationsCorresponds to variant dbSNP:rs77103971EnsemblClinVar.1
Natural variantiVAR_070628230F → L in AGS4. 1 PublicationCorresponds to variant dbSNP:rs79767407EnsemblClinVar.1
Natural variantiVAR_070629235R → Q in AGS4. 1 PublicationCorresponds to variant dbSNP:rs75718910EnsemblClinVar.1
Natural variantiVAR_070630240T → M in AGS4. 1 PublicationCorresponds to variant dbSNP:rs79843600EnsemblClinVar.1
Natural variantiVAR_070632291R → H in AGS4. 1 PublicationCorresponds to variant dbSNP:rs75037667EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi67D → A: Loss of enzyme activity. 1 Publication1
Mutagenesisi69K → A: Strongly reduced enzyme activity. 1 Publication1
Mutagenesisi112N → A: Reduced enzyme activity. 1 Publication1
Mutagenesisi210Y → A: Strongly reduced enzyme activity. 1 Publication1
Mutagenesisi210Y → F: Loss of enzyme activity. 1 Publication1
Mutagenesisi240T → A: Strongly reduced enzyme activity. 1 Publication1

Keywords - Diseasei

Aicardi-Goutieres syndrome, Disease mutation

Organism-specific databases

DisGeNETi10535
GeneReviewsiRNASEH2A
MalaCardsiRNASEH2A
MIMi610333 phenotype
OpenTargetsiENSG00000104889
Orphaneti51 Aicardi-Goutieres syndrome
PharmGKBiPA38565

Polymorphism and mutation databases

BioMutaiRNASEH2A

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001117101 – 299Ribonuclease H2 subunit AAdd BLAST299

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei204PhosphothreonineCombined sources1
Modified residuei216PhosphothreonineCombined sources1
Modified residuei257PhosphoserineBy similarity1
Modified residuei277PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiO75792
MaxQBiO75792
PaxDbiO75792
PeptideAtlasiO75792
PRIDEiO75792
ProteomicsDBi50197

PTM databases

iPTMnetiO75792
PhosphoSitePlusiO75792

Expressioni

Gene expression databases

BgeeiENSG00000104889 Expressed in 164 organ(s), highest expression level in endometrium epithelium
CleanExiHS_RNASEH2A
GenevisibleiO75792 HS

Organism-specific databases

HPAiHPA042692

Interactioni

Subunit structurei

The RNase H2 complex is a heterotrimer composed of the catalytic subunit RNASEH2A and the non-catalytic subunits RNASEH2B and RNASEH2C.1 Publication

Protein-protein interaction databases

BioGridi115789, 47 interactors
IntActiO75792, 27 interactors
STRINGi9606.ENSP00000221486

Structurei

Secondary structure

1299
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliO75792
SMRiO75792
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO75792

Family & Domainsi

Sequence similaritiesi

Belongs to the RNase HII family. Eukaryotic subfamily.Curated

Phylogenomic databases

eggNOGiKOG2299 Eukaryota
COG0164 LUCA
GeneTreeiENSGT00390000010768
HOGENOMiHOG000100290
HOVERGENiHBG023585
InParanoidiO75792
KOiK10743
OMAiREECRFF
OrthoDBiEOG091G0E06
PhylomeDBiO75792
TreeFamiTF314302

Family and domain databases

Gene3Di1.10.10.460, 1 hit
3.30.420.10, 1 hit
InterProiView protein in InterPro
IPR004649 RNase_H2_suA
IPR001352 RNase_HII/HIII
IPR024567 RNase_HII/HIII_dom
IPR023160 RNase_HII_hlx-loop-hlx_cap_dom
IPR012337 RNaseH-like_sf
IPR036397 RNaseH_sf
PANTHERiPTHR10954 PTHR10954, 1 hit
PfamiView protein in Pfam
PF01351 RNase_HII, 1 hit
SUPFAMiSSF53098 SSF53098, 1 hit
TIGRFAMsiTIGR00729 TIGR00729, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

O75792-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MDLSELERDN TGRCRLSSPV PAVCRKEPCV LGVDEAGRGP VLGPMVYAIC
60 70 80 90 100
YCPLPRLADL EALKVADSKT LLESERERLF AKMEDTDFVG WALDVLSPNL
110 120 130 140 150
ISTSMLGRVK YNLNSLSHDT ATGLIQYALD QGVNVTQVFV DTVGMPETYQ
160 170 180 190 200
ARLQQSFPGI EVTVKAKADA LYPVVSAASI CAKVARDQAV KKWQFVEKLQ
210 220 230 240 250
DLDTDYGSGY PNDPKTKAWL KEHVEPVFGF PQFVRFSWRT AQTILEKEAE
260 270 280 290
DVIWEDSASE NQEGLRKITS YFLNEGSQAR PRSSHRYFLE RGLESATSL
Length:299
Mass (Da):33,395
Last modified:May 15, 2002 - v2
Checksum:i34992FE85130157B
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8Y658A0A2R8Y658_HUMAN
Ribonuclease
RNASEH2A
138Annotation score:
A0A2R8Y606A0A2R8Y606_HUMAN
Ribonuclease
RNASEH2A
71Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti152R → Q in CAB09725 (PubMed:9789007).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0706232 – 3DL → YP in AGS4. 2
Natural variantiVAR_02737737G → S in AGS4; strongly impairs enzyme activity but not interaction with RNASEH2B and RNASEH2C. 2 PublicationsCorresponds to variant dbSNP:rs76857106EnsemblClinVar.1
Natural variantiVAR_07062499N → D1 Publication1
Natural variantiVAR_070625108R → W in AGS4. 1 PublicationCorresponds to variant dbSNP:rs76436818EnsemblClinVar.1
Natural variantiVAR_070626186R → W in AGS4. 2 PublicationsCorresponds to variant dbSNP:rs77103971EnsemblClinVar.1
Natural variantiVAR_024617202L → S1 PublicationCorresponds to variant dbSNP:rs7247284EnsemblClinVar.1
Natural variantiVAR_070627205D → E1 PublicationCorresponds to variant dbSNP:rs62619782EnsemblClinVar.1
Natural variantiVAR_070628230F → L in AGS4. 1 PublicationCorresponds to variant dbSNP:rs79767407EnsemblClinVar.1
Natural variantiVAR_070629235R → Q in AGS4. 1 PublicationCorresponds to variant dbSNP:rs75718910EnsemblClinVar.1
Natural variantiVAR_070630240T → M in AGS4. 1 PublicationCorresponds to variant dbSNP:rs79843600EnsemblClinVar.1
Natural variantiVAR_027378258A → G. Corresponds to variant dbSNP:rs15389Ensembl.1
Natural variantiVAR_070631260E → G1 PublicationCorresponds to variant dbSNP:rs770898096Ensembl.1
Natural variantiVAR_070632291R → H in AGS4. 1 PublicationCorresponds to variant dbSNP:rs75037667EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z97029 mRNA Translation: CAB09725.1
AK315327 mRNA Translation: BAG37728.1
CH471106 Genomic DNA Translation: EAW84313.1
BC011748 mRNA Translation: AAH11748.1
CCDSiCCDS12282.1
RefSeqiNP_006388.2, NM_006397.2
UniGeneiHs.532851

Genome annotation databases

EnsembliENST00000221486; ENSP00000221486; ENSG00000104889
GeneIDi10535
KEGGihsa:10535
UCSCiuc002mvg.2 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z97029 mRNA Translation: CAB09725.1
AK315327 mRNA Translation: BAG37728.1
CH471106 Genomic DNA Translation: EAW84313.1
BC011748 mRNA Translation: AAH11748.1
CCDSiCCDS12282.1
RefSeqiNP_006388.2, NM_006397.2
UniGeneiHs.532851

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3P56X-ray4.06A/D1-299[»]
3PUFX-ray3.10A/D/G/J/M/P1-299[»]
ProteinModelPortaliO75792
SMRiO75792
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115789, 47 interactors
IntActiO75792, 27 interactors
STRINGi9606.ENSP00000221486

PTM databases

iPTMnetiO75792
PhosphoSitePlusiO75792

Polymorphism and mutation databases

BioMutaiRNASEH2A

Proteomic databases

EPDiO75792
MaxQBiO75792
PaxDbiO75792
PeptideAtlasiO75792
PRIDEiO75792
ProteomicsDBi50197

Protocols and materials databases

DNASUi10535
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000221486; ENSP00000221486; ENSG00000104889
GeneIDi10535
KEGGihsa:10535
UCSCiuc002mvg.2 human

Organism-specific databases

CTDi10535
DisGeNETi10535
EuPathDBiHostDB:ENSG00000104889.4
GeneCardsiRNASEH2A
GeneReviewsiRNASEH2A
HGNCiHGNC:18518 RNASEH2A
HPAiHPA042692
MalaCardsiRNASEH2A
MIMi606034 gene
610333 phenotype
neXtProtiNX_O75792
OpenTargetsiENSG00000104889
Orphaneti51 Aicardi-Goutieres syndrome
PharmGKBiPA38565
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2299 Eukaryota
COG0164 LUCA
GeneTreeiENSGT00390000010768
HOGENOMiHOG000100290
HOVERGENiHBG023585
InParanoidiO75792
KOiK10743
OMAiREECRFF
OrthoDBiEOG091G0E06
PhylomeDBiO75792
TreeFamiTF314302

Enzyme and pathway databases

BioCyciMetaCyc:HS02645-MONOMER

Miscellaneous databases

EvolutionaryTraceiO75792
GeneWikiiRNASEH2A
GenomeRNAii10535
PROiPR:O75792
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000104889 Expressed in 164 organ(s), highest expression level in endometrium epithelium
CleanExiHS_RNASEH2A
GenevisibleiO75792 HS

Family and domain databases

Gene3Di1.10.10.460, 1 hit
3.30.420.10, 1 hit
InterProiView protein in InterPro
IPR004649 RNase_H2_suA
IPR001352 RNase_HII/HIII
IPR024567 RNase_HII/HIII_dom
IPR023160 RNase_HII_hlx-loop-hlx_cap_dom
IPR012337 RNaseH-like_sf
IPR036397 RNaseH_sf
PANTHERiPTHR10954 PTHR10954, 1 hit
PfamiView protein in Pfam
PF01351 RNase_HII, 1 hit
SUPFAMiSSF53098 SSF53098, 1 hit
TIGRFAMsiTIGR00729 TIGR00729, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiRNH2A_HUMAN
AccessioniPrimary (citable) accession number: O75792
Secondary accession number(s): B2RCY1, Q96F11
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 15, 2002
Last modified: October 10, 2018
This is version 165 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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