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Protein

Ribonuclease H2 subunit A

Gene

RNASEH2A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>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
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi34Divalent metal cationBy similarity1
Metal bindingi35Divalent metal cationBy similarity1
Metal bindingi141Divalent metal cationBy similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>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

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionEndonuclease, Hydrolase, Nuclease
LigandMetal-binding

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS02645-MONOMER

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:RNASEH2A
Synonyms:RNASEHI, RNHIA
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 19

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000104889.4

Human Gene Nomenclature Database

More...
HGNCi
HGNC:18518 RNASEH2A

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606034 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O75792

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
10535

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
RNASEH2A

MalaCards human disease database

More...
MalaCardsi
RNASEH2A
MIMi610333 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000104889

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
51 Aicardi-Goutieres syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA38565

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
RNASEH2A

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001117101 – 299Ribonuclease H2 subunit AAdd BLAST299

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1N-acetylmethionineCombined sources1
Modified residuei204PhosphothreonineCombined sources1
Modified residuei216PhosphothreonineCombined sources1
Modified residuei257PhosphoserineBy similarity1
Modified residuei277PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
O75792

MaxQB - The MaxQuant DataBase

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MaxQBi
O75792

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
O75792

PeptideAtlas

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PeptideAtlasi
O75792

PRoteomics IDEntifications database

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PRIDEi
O75792

ProteomicsDB human proteome resource

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ProteomicsDBi
50197

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O75792

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
O75792

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000104889 Expressed in 164 organ(s), highest expression level in endometrium epithelium

CleanEx database of gene expression profiles

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CleanExi
HS_RNASEH2A

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O75792 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA042692

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
115789, 47 interactors

Protein interaction database and analysis system

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IntActi
O75792, 27 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000221486

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
O75792

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
O75792

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
O75792

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the RNase HII family. Eukaryotic subfamily.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG2299 Eukaryota
COG0164 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000010768

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000100290

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG023585

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O75792

KEGG Orthology (KO)

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KOi
K10743

Identification of Orthologs from Complete Genome Data

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OMAi
REECRFF

Database of Orthologous Groups

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OrthoDBi
EOG091G0E06

Database for complete collections of gene phylogenies

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PhylomeDBi
O75792

TreeFam database of animal gene trees

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TreeFami
TF314302

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.10.460, 1 hit
3.30.420.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View 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

The PANTHER Classification System

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PANTHERi
PTHR10954 PTHR10954, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF01351 RNase_HII, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF53098 SSF53098, 1 hit

TIGRFAMs; a protein family database

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TIGRFAMsi
TIGR00729 TIGR00729, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i34992FE85130157B
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

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

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y658A0A2R8Y658_HUMAN
Ribonuclease
RNASEH2A
138Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
Z97029 mRNA Translation: CAB09725.1
AK315327 mRNA Translation: BAG37728.1
CH471106 Genomic DNA Translation: EAW84313.1
BC011748 mRNA Translation: AAH11748.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS12282.1

NCBI Reference Sequences

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RefSeqi
NP_006388.2, NM_006397.2

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.532851

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000221486; ENSP00000221486; ENSG00000104889

Database of genes from NCBI RefSeq genomes

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GeneIDi
10535

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:10535

UCSC genome browser

More...
UCSCi
uc002mvg.2 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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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

The DNASU plasmid repository

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DNASUi
10535
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
10535
DisGeNETi10535
EuPathDBiHostDB:ENSG00000104889.4

GeneCards: human genes, protein and diseases

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GeneCardsi
RNASEH2A
GeneReviewsiRNASEH2A
HGNCiHGNC:18518 RNASEH2A
HPAiHPA042692
MalaCardsiRNASEH2A
MIMi606034 gene
610333 phenotype
neXtProtiNX_O75792
OpenTargetsiENSG00000104889
Orphaneti51 Aicardi-Goutieres syndrome
PharmGKBiPA38565

GenAtlas: human gene database

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GenAtlasi
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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

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
RNASEH2A

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
10535

Protein Ontology

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PROi
PR:O75792

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiRNH2A_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O75792
Secondary accession number(s): B2RCY1, Q96F11
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 15, 2002
Last modified: December 5, 2018
This is version 166 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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