Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q8TDP1

- RNH2C_HUMAN

UniProt

Q8TDP1 - RNH2C_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Ribonuclease H2 subunit C

Gene

RNASEH2C

Organism
Homo sapiens (Human)
Status
Reviewed - 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

GO - Biological processi

  1. RNA catabolic process Source: UniProtKB
Complete GO annotation...

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
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:24116. RNASEH2C.

Subcellular locationi

Nucleus Curated

GO - Cellular componenti

  1. nucleus Source: UniProtKB-KW
  2. ribonuclease H2 complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Aicardi-Goutieres syndrome 3 (AGS3) [MIM:610329]: 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.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti13 – 131R → H in AGS3. 1 Publication
VAR_070618
Natural varianti39 – 391D → Y in AGS3. 1 Publication
VAR_070619
Natural varianti69 – 691R → W in AGS3. 3 Publications
VAR_027287
Natural varianti76 – 761P → L in AGS3. 1 Publication
VAR_070620
Natural varianti138 – 1381P → L in AGS3. 1 Publication
VAR_070621
Natural varianti143 – 1431K → I in AGS3. 2 Publications
VAR_027288
Natural varianti151 – 1511P → S in AGS3. 1 Publication
VAR_070622

Keywords - Diseasei

Aicardi-Goutieres syndrome, Disease mutation

Organism-specific databases

MIMi610329. phenotype.
Orphaneti51. Aicardi-Goutieres syndrome.
PharmGKBiPA162401445.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 164164Ribonuclease H2 subunit CPRO_0000248385Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1 – 11N-acetylmethionine3 Publications

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ8TDP1.
PaxDbiQ8TDP1.
PRIDEiQ8TDP1.

PTM databases

PhosphoSiteiQ8TDP1.

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiQ8TDP1.
CleanExiHS_RNASEH2C.
ExpressionAtlasiQ8TDP1. baseline and differential.
GenevestigatoriQ8TDP1.

Organism-specific databases

HPAiHPA059703.

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. 5 interactions.
STRINGi9606.ENSP00000308193.

Structurei

Secondary structure

1
164
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi9 – 124Combined sources
Beta strandi13 – 164Combined sources
Helixi19 – 224Combined sources
Beta strandi29 – 368Combined sources
Beta strandi39 – 413Combined sources
Helixi44 – 474Combined sources
Helixi49 – 513Combined sources
Beta strandi56 – 638Combined sources
Beta strandi66 – 705Combined sources
Beta strandi72 – 743Combined sources
Beta strandi79 – 868Combined sources
Beta strandi119 – 13113Combined sources
Beta strandi133 – 1364Combined sources
Helixi143 – 1475Combined sources
Helixi150 – 1578Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3P56X-ray4.06C/F1-164[»]
3PUFX-ray3.10C/F/I/L/O/R1-164[»]
ProteinModelPortaliQ8TDP1.
SMRiQ8TDP1. Positions 7-162.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ8TDP1.

Family & Domainsi

Sequence similaritiesi

Belongs to the RNase H2 subunit C family.Curated

Phylogenomic databases

eggNOGiNOG72919.
GeneTreeiENSGT00390000001568.
HOGENOMiHOG000230780.
HOVERGENiHBG093917.
InParanoidiQ8TDP1.
KOiK10745.
PhylomeDBiQ8TDP1.
TreeFamiTF324370.

Family and domain databases

InterProiIPR013924. RNase_H2_suC.
[Graphical view]
PfamiPF08615. RNase_H2_suC. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8TDP1-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« 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
Isoform 2 (identifier: Q8TDP1-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     89-89: Missing.

Note: No experimental confirmation available.

Show »
Length:163
Mass (Da):17,712
Checksum:i7CD8D8306DE81EDC
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti13 – 131R → H in AGS3. 1 Publication
VAR_070618
Natural varianti39 – 391D → Y in AGS3. 1 Publication
VAR_070619
Natural varianti69 – 691R → W in AGS3. 3 Publications
VAR_027287
Natural varianti76 – 761P → L in AGS3. 1 Publication
VAR_070620
Natural varianti138 – 1381P → L in AGS3. 1 Publication
VAR_070621
Natural varianti143 – 1431K → I in AGS3. 2 Publications
VAR_027288
Natural varianti151 – 1511P → S in AGS3. 1 Publication
VAR_070622

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei89 – 891Missing in isoform 2. 1 PublicationVSP_020258

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. [Q8TDP1-1]
RefSeqiNP_115569.2. NM_032193.3. [Q8TDP1-1]
UniGeneiHs.718438.

Genome annotation databases

EnsembliENST00000308418; ENSP00000308193; ENSG00000172922. [Q8TDP1-1]
GeneIDi84153.
KEGGihsa:84153.
UCSCiuc001ofn.3. human. [Q8TDP1-1]

Polymorphism databases

DMDMi74730607.

Keywords - Coding sequence diversityi

Alternative splicing

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 .
CCDSi CCDS8111.1. [Q8TDP1-1 ]
RefSeqi NP_115569.2. NM_032193.3. [Q8TDP1-1 ]
UniGenei Hs.718438.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
3P56 X-ray 4.06 C/F 1-164 [» ]
3PUF X-ray 3.10 C/F/I/L/O/R 1-164 [» ]
ProteinModelPortali Q8TDP1.
SMRi Q8TDP1. Positions 7-162.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 123916. 5 interactions.
STRINGi 9606.ENSP00000308193.

PTM databases

PhosphoSitei Q8TDP1.

Polymorphism databases

DMDMi 74730607.

Proteomic databases

MaxQBi Q8TDP1.
PaxDbi Q8TDP1.
PRIDEi Q8TDP1.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000308418 ; ENSP00000308193 ; ENSG00000172922 . [Q8TDP1-1 ]
GeneIDi 84153.
KEGGi hsa:84153.
UCSCi uc001ofn.3. human. [Q8TDP1-1 ]

Organism-specific databases

CTDi 84153.
GeneCardsi GC11M065485.
GeneReviewsi RNASEH2C.
HGNCi HGNC:24116. RNASEH2C.
HPAi HPA059703.
MIMi 610329. phenotype.
610330. gene.
neXtProti NX_Q8TDP1.
Orphaneti 51. Aicardi-Goutieres syndrome.
PharmGKBi PA162401445.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG72919.
GeneTreei ENSGT00390000001568.
HOGENOMi HOG000230780.
HOVERGENi HBG093917.
InParanoidi Q8TDP1.
KOi K10745.
PhylomeDBi Q8TDP1.
TreeFami TF324370.

Miscellaneous databases

EvolutionaryTracei Q8TDP1.
GenomeRNAii 84153.
NextBioi 73488.
PROi Q8TDP1.
SOURCEi Search...

Gene expression databases

Bgeei Q8TDP1.
CleanExi HS_RNASEH2C.
ExpressionAtlasi Q8TDP1. baseline and differential.
Genevestigatori Q8TDP1.

Family and domain databases

InterProi IPR013924. RNase_H2_suC.
[Graphical view ]
Pfami PF08615. RNase_H2_suC. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning of the cDNA encoding the small subunit of human RNase HI."
    Frank P., Bogusch A., Grimm R., Wintersberger U.
    Submitted (OCT-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. "Evidence that the T6 pseudogene upstream of human SRY is derived from the transcript of a novel autosomal gene, AYP1."
    Lim H.N., Oakenfull E.A., Hawkins J.R.
    Submitted (FEB-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1).
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Adipose tissue.
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: B-cell.
  5. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  7. "Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
    Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T., Giglione C.
    Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  8. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  9. "The structural and biochemical characterization of human RNase H2 complex reveals the molecular basis for substrate recognition and Aicardi-Goutieres syndrome defects."
    Figiel M., Chon H., Cerritelli S.M., Cybulska M., Crouch R.J., Nowotny M.
    J. Biol. Chem. 286:10540-10550(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (3.1 ANGSTROMS), FUNCTION, SUBUNIT.
  10. "Clinical and molecular phenotype of Aicardi-Goutieres syndrome."
    Rice G., Patrick T., Parmar R., Taylor C.F., Aeby A., Aicardi J., Artuch R., Montalto S.A., Bacino C.A., Barroso B., Baxter P., Benko W.S., Bergmann C., Bertini E., Biancheri R., Blair E.M., Blau N., Bonthron D.T.
    , Briggs T., Brueton L.A., Brunner H.G., Burke C.J., Carr I.M., Carvalho D.R., Chandler K.E., Christen H.J., Corry P.C., Cowan F.M., Cox H., D'Arrigo S., Dean J., De Laet C., De Praeter C., Dery C., Ferrie C.D., Flintoff K., Frints S.G., Garcia-Cazorla A., Gener B., Goizet C., Goutieres F., Green A.J., Guet A., Hamel B.C., Hayward B.E., Heiberg A., Hennekam R.C., Husson M., Jackson A.P., Jayatunga R., Jiang Y.H., Kant S.G., Kao A., King M.D., Kingston H.M., Klepper J., van der Knaap M.S., Kornberg A.J., Kotzot D., Kratzer W., Lacombe D., Lagae L., Landrieu P.G., Lanzi G., Leitch A., Lim M.J., Livingston J.H., Lourenco C.M., Lyall E.G., Lynch S.A., Lyons M.J., Marom D., McClure J.P., McWilliam R., Melancon S.B., Mewasingh L.D., Moutard M.L., Nischal K.K., Ostergaard J.R., Prendiville J., Rasmussen M., Rogers R.C., Roland D., Rosser E.M., Rostasy K., Roubertie A., Sanchis A., Schiffmann R., Scholl-Burgi S., Seal S., Shalev S.A., Corcoles C.S., Sinha G.P., Soler D., Spiegel R., Stephenson J.B., Tacke U., Tan T.Y., Till M., Tolmie J.L., Tomlin P., Vagnarelli F., Valente E.M., Van Coster R.N., Van der Aa N., Vanderver A., Vles J.S., Voit T., Wassmer E., Weschke B., Whiteford M.L., Willemsen M.A., Zankl A., Zuberi S.M., Orcesi S., Fazzi E., Lebon P., Crow Y.J.
    Am. J. Hum. Genet. 81:713-725(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AGS3 HIS-13; TRP-69; LEU-76; LEU-138; ILE-143 AND SER-151.
  11. Cited for: VARIANTS AGS3 TRP-69 AND ILE-143, FUNCTION, TISSUE SPECIFICITY, INTERACTION WITH RNASEH2A AND RNASEH2B.
  12. Cited for: VARIANTS AGS3 TYR-39 AND TRP-69.

Entry informationi

Entry nameiRNH2C_HUMAN
AccessioniPrimary (citable) accession number: Q8TDP1
Secondary accession number(s): Q9H7F5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 5, 2006
Last sequence update: June 1, 2002
Last modified: November 26, 2014
This is version 92 of the entry and version 1 of the sequence. [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

Miscellaneous

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

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

External Data

Dasty 3