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Q8TDP1

- RNH2C_HUMAN

UniProt

Q8TDP1 - RNH2C_HUMAN

Protein

Ribonuclease H2 subunit C

Gene

RNASEH2C

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
  1. 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

    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-SubCell
    2. ribonuclease H2 complex Source: UniProtKB

    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

    ArrayExpressiQ8TDP1.
    BgeeiQ8TDP1.
    CleanExiHS_RNASEH2C.
    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. 4 interactions.
    STRINGi9606.ENSP00000308193.

    Structurei

    Secondary structure

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

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    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.
    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

    MESGDEAAIE RHRVHLRSAT LRDAVPATLH LLPCEVAVDG PAPVGRFFTP    50
    AIRQGPEGLE VSFRGRCLRG EEVAVPPGLV GYVMVTEEKK VSMGKPDPLR 100
    DSGTDDQEEE PLERDFDRFI GATANFSRFT LWGLETIPGP DAKVRGALTW 150
    PSLAAAIHAQ VPED 164
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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:
    PDBe
    RCSB PDB
    PDBj
    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. 4 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.
    HOGENOMi HOG000230780.
    HOVERGENi HBG093917.
    InParanoidi Q8TDP1.
    KOi K10745.
    PhylomeDBi Q8TDP1.
    TreeFami TF324370.

    Miscellaneous databases

    ChiTaRSi RNASEH2C. human.
    EvolutionaryTracei Q8TDP1.
    GenomeRNAii 84153.
    NextBioi 73488.
    PROi Q8TDP1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8TDP1.
    Bgeei Q8TDP1.
    CleanExi HS_RNASEH2C.
    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

    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: October 1, 2014
    This is version 90 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