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Protein

Ribonuclease H2 subunit C

Gene

RNASEH2C

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

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.

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:rs773527127Ensembl.1
Natural variantiVAR_02728769R → W in AGS3. 3 PublicationsCorresponds to variant dbSNP:rs78635798Ensembl.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:rs75146158Ensembl.1
Natural variantiVAR_070622151P → S in AGS3. 1 PublicationCorresponds to variant dbSNP:rs78464826Ensembl.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.

PTM databases

iPTMnetiQ8TDP1.
PhosphoSitePlusiQ8TDP1.

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiENSG00000172922.
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
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi9 – 12Combined sources4
Beta strandi13 – 16Combined sources4
Helixi19 – 22Combined sources4
Beta strandi29 – 36Combined sources8
Beta strandi39 – 41Combined sources3
Helixi44 – 47Combined sources4
Helixi49 – 51Combined sources3
Beta strandi56 – 63Combined sources8
Beta strandi66 – 70Combined sources5
Beta strandi72 – 74Combined sources3
Beta strandi79 – 86Combined sources8
Beta strandi119 – 131Combined sources13
Beta strandi133 – 136Combined sources4
Helixi143 – 147Combined sources5
Helixi150 – 157Combined sources8

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...

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.

Sequencei

Sequence statusi: Complete.

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

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:rs773527127Ensembl.1
Natural variantiVAR_02728769R → W in AGS3. 3 PublicationsCorresponds to variant dbSNP:rs78635798Ensembl.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:rs75146158Ensembl.1
Natural variantiVAR_070622151P → S in AGS3. 1 PublicationCorresponds to variant dbSNP:rs78464826Ensembl.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.
GeneIDi84153.
KEGGihsa:84153.
UCSCiuc001ofn.4. human.

Similar proteinsi

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: October 25, 2017
This is version 117 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. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families