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Protein

Ribonuclease H2 subunit C

Gene

RNASEH2C

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

Functioni

Non catalytic subunit of RNase H2, 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

Miscellaneous

The T6 pseudogene located upstream of SRY on chromosome Y is derived from the transcript of this gene.

GO - Biological processi

  • RNA catabolic process Source: UniProtKB

Enzyme and pathway databases

BioCyciMetaCyc:HS16149-MONOMER
BRENDAi3.1.26.4 2681

Names & Taxonomyi

Protein namesi
Recommended name:
Ribonuclease H2 subunit C
Short name:
RNase H2 subunit C
Alternative name(s):
Aicardi-Goutieres syndrome 3 protein
Short name:
AGS3
RNase H1 small subunit
Ribonuclease HI subunit C
Gene namesi
Name:RNASEH2C
Synonyms:AYP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000172922.8
HGNCiHGNC:24116 RNASEH2C
MIMi610330 gene
neXtProtiNX_Q8TDP1

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 3 (AGS3)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:610329
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07061813R → H in AGS3. 1 PublicationCorresponds to variant dbSNP:rs75328625Ensembl.1
Natural variantiVAR_07061939D → Y in AGS3. 1 PublicationCorresponds to variant dbSNP:rs773527127EnsemblClinVar.1
Natural variantiVAR_02728769R → W in AGS3. 3 PublicationsCorresponds to variant dbSNP:rs78635798EnsemblClinVar.1
Natural variantiVAR_07062076P → L in AGS3. 1 PublicationCorresponds to variant dbSNP:rs76091978Ensembl.1
Natural variantiVAR_070621138P → L in AGS3. 1 Publication1
Natural variantiVAR_027288143K → I in AGS3. 2 PublicationsCorresponds to variant dbSNP:rs75146158EnsemblClinVar.1
Natural variantiVAR_070622151P → S in AGS3. 1 PublicationCorresponds to variant dbSNP:rs78464826EnsemblClinVar.1

Keywords - Diseasei

Aicardi-Goutieres syndrome, Disease mutation

Organism-specific databases

DisGeNETi84153
GeneReviewsiRNASEH2C
MalaCardsiRNASEH2C
MIMi610329 phenotype
OpenTargetsiENSG00000172922
Orphaneti51 Aicardi-Goutieres syndrome
PharmGKBiPA162401445

Polymorphism and mutation databases

DMDMi74730607

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002483851 – 164Ribonuclease H2 subunit CAdd BLAST164

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei3PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ8TDP1
MaxQBiQ8TDP1
PaxDbiQ8TDP1
PeptideAtlasiQ8TDP1
PRIDEiQ8TDP1
ProteomicsDBi74315

PTM databases

iPTMnetiQ8TDP1
PhosphoSitePlusiQ8TDP1

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiENSG00000172922 Expressed in 200 organ(s), highest expression level in tendon of biceps brachii
CleanExiHS_RNASEH2C
ExpressionAtlasiQ8TDP1 baseline and differential
GenevisibleiQ8TDP1 HS

Organism-specific databases

HPAiHPA065375

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

BioGridi123916, 13 interactors
IntActiQ8TDP1, 4 interactors
STRINGi9606.ENSP00000308193

Structurei

Secondary structure

1164
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ8TDP1
SMRiQ8TDP1
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ8TDP1

Family & Domainsi

Sequence similaritiesi

Belongs to the RNase H2 subunit C family.Curated

Phylogenomic databases

eggNOGiENOG410J0SE Eukaryota
ENOG41126TY LUCA
GeneTreeiENSGT00390000001568
HOGENOMiHOG000230780
HOVERGENiHBG093917
InParanoidiQ8TDP1
KOiK10745
PhylomeDBiQ8TDP1
TreeFamiTF324370

Family and domain databases

CDDicd09271 RNase_H2-C, 1 hit
InterProiView protein in InterPro
IPR013924 RNase_H2_suC
PfamiView protein in Pfam
PF08615 RNase_H2_suC, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

Q8TDP1-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MESGDEAAIE RHRVHLRSAT LRDAVPATLH LLPCEVAVDG PAPVGRFFTP
60 70 80 90 100
AIRQGPEGLE VSFRGRCLRG EEVAVPPGLV GYVMVTEEKK VSMGKPDPLR
110 120 130 140 150
DSGTDDQEEE PLERDFDRFI GATANFSRFT LWGLETIPGP DAKVRGALTW
160
PSLAAAIHAQ VPED
Length:164
Mass (Da):17,840
Last modified:June 1, 2002 - v1
Checksum:i13D0F1D039963671
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PN81E9PN81_HUMAN
Ribonuclease H2 subunit C
RNASEH2C
247Annotation score:
H0YCP5H0YCP5_HUMAN
Ribonuclease H2 subunit C
RNASEH2C
129Annotation score:
H0YEF3H0YEF3_HUMAN
Ribonuclease H2 subunit C
RNASEH2C
158Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07061813R → H in AGS3. 1 PublicationCorresponds to variant dbSNP:rs75328625Ensembl.1
Natural variantiVAR_07061939D → Y in AGS3. 1 PublicationCorresponds to variant dbSNP:rs773527127EnsemblClinVar.1
Natural variantiVAR_02728769R → W in AGS3. 3 PublicationsCorresponds to variant dbSNP:rs78635798EnsemblClinVar.1
Natural variantiVAR_07062076P → L in AGS3. 1 PublicationCorresponds to variant dbSNP:rs76091978Ensembl.1
Natural variantiVAR_070621138P → L in AGS3. 1 Publication1
Natural variantiVAR_027288143K → I in AGS3. 2 PublicationsCorresponds to variant dbSNP:rs75146158EnsemblClinVar.1
Natural variantiVAR_070622151P → S in AGS3. 1 PublicationCorresponds to variant dbSNP:rs78464826EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF312034 mRNA Translation: AAL87739.1
AF346605 Genomic DNA Translation: AAO49176.1
AF346606 mRNA Translation: AAO49177.1
AK024627 mRNA Translation: BAB14937.1
BC023588 mRNA Translation: AAH23588.1
CCDSiCCDS8111.1
RefSeqiNP_115569.2, NM_032193.3
UniGeneiHs.718438

Genome annotation databases

EnsembliENST00000308418; ENSP00000308193; ENSG00000172922
ENST00000531596; ENSP00000435717; ENSG00000172922
ENST00000534482; ENSP00000432081; ENSG00000172922
ENST00000644142; ENSP00000493695; ENSG00000172922
GeneIDi84153
KEGGihsa:84153
UCSCiuc001ofn.4 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF312034 mRNA Translation: AAL87739.1
AF346605 Genomic DNA Translation: AAO49176.1
AF346606 mRNA Translation: AAO49177.1
AK024627 mRNA Translation: BAB14937.1
BC023588 mRNA Translation: AAH23588.1
CCDSiCCDS8111.1
RefSeqiNP_115569.2, NM_032193.3
UniGeneiHs.718438

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3P56X-ray4.06C/F1-164[»]
3PUFX-ray3.10C/F/I/L/O/R1-164[»]
ProteinModelPortaliQ8TDP1
SMRiQ8TDP1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123916, 13 interactors
IntActiQ8TDP1, 4 interactors
STRINGi9606.ENSP00000308193

PTM databases

iPTMnetiQ8TDP1
PhosphoSitePlusiQ8TDP1

Polymorphism and mutation databases

DMDMi74730607

Proteomic databases

EPDiQ8TDP1
MaxQBiQ8TDP1
PaxDbiQ8TDP1
PeptideAtlasiQ8TDP1
PRIDEiQ8TDP1
ProteomicsDBi74315

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000308418; ENSP00000308193; ENSG00000172922
ENST00000531596; ENSP00000435717; ENSG00000172922
ENST00000534482; ENSP00000432081; ENSG00000172922
ENST00000644142; ENSP00000493695; ENSG00000172922
GeneIDi84153
KEGGihsa:84153
UCSCiuc001ofn.4 human

Organism-specific databases

CTDi84153
DisGeNETi84153
EuPathDBiHostDB:ENSG00000172922.8
GeneCardsiRNASEH2C
GeneReviewsiRNASEH2C
HGNCiHGNC:24116 RNASEH2C
HPAiHPA065375
MalaCardsiRNASEH2C
MIMi610329 phenotype
610330 gene
neXtProtiNX_Q8TDP1
OpenTargetsiENSG00000172922
Orphaneti51 Aicardi-Goutieres syndrome
PharmGKBiPA162401445
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410J0SE Eukaryota
ENOG41126TY LUCA
GeneTreeiENSGT00390000001568
HOGENOMiHOG000230780
HOVERGENiHBG093917
InParanoidiQ8TDP1
KOiK10745
PhylomeDBiQ8TDP1
TreeFamiTF324370

Enzyme and pathway databases

BioCyciMetaCyc:HS16149-MONOMER
BRENDAi3.1.26.4 2681

Miscellaneous databases

ChiTaRSiRNASEH2C human
EvolutionaryTraceiQ8TDP1
GenomeRNAii84153
PROiPR:Q8TDP1
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000172922 Expressed in 200 organ(s), highest expression level in tendon of biceps brachii
CleanExiHS_RNASEH2C
ExpressionAtlasiQ8TDP1 baseline and differential
GenevisibleiQ8TDP1 HS

Family and domain databases

CDDicd09271 RNase_H2-C, 1 hit
InterProiView protein in InterPro
IPR013924 RNase_H2_suC
PfamiView protein in Pfam
PF08615 RNase_H2_suC, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiRNH2C_HUMAN
AccessioniPrimary (citable) accession number: Q8TDP1
Secondary accession number(s): Q9H7F5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 5, 2006
Last sequence update: June 1, 2002
Last modified: September 12, 2018
This is version 120 of the entry and version 1 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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