LOCUS       NM_032193               2645 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens ribonuclease H2 subunit C (RNASEH2C), mRNA.
ACCESSION   NM_032193
VERSION     NM_032193.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2645)
  AUTHORS   Wang,Q., Han,Y., Zhou,X., Cheng,S., Wang,X., Chen,X. and Yuan,H.
  TITLE     RNASEH2C c.194G>A is a Chinese-specific founder mutation in three
            unrelated patients with Aicardi-Goutieres syndrome 3
  JOURNAL   Clin Genet 104 (2), 259-265 (2023)
   PUBMED   37092250
  REMARK    GeneRIF: RNASEH2C c.194G>A is a Chinese-specific founder mutation
            in three unrelated patients with Aicardi-Goutieres syndrome 3.
REFERENCE   2  (bases 1 to 2645)
  AUTHORS   Polaczek,R., Schurmann,P., Speith,L.M., Geffers,R., Durst,M.,
            Hillemanns,P., Park-Simon,T.W., Liebrich,C. and Dork,T.
  TITLE     Germline variation of Ribonuclease H2 genes in ovarian cancer
            patients
  JOURNAL   J Ovarian Res 13 (1), 146 (2020)
   PUBMED   33353557
  REMARK    GeneRIF: Germline variation of Ribonuclease H2 genes in ovarian
            cancer patients.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2645)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 2645)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 2645)
  AUTHORS   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. and Crow,Y.J.
  TITLE     Clinical and molecular phenotype of Aicardi-Goutieres syndrome
  JOURNAL   Am J Hum Genet 81 (4), 713-725 (2007)
   PUBMED   17846997
REFERENCE   6  (bases 1 to 2645)
  AUTHORS   Crow,Y.J., Leitch,A., Hayward,B.E., Garner,A., Parmar,R.,
            Griffith,E., Ali,M., Semple,C., Aicardi,J., Babul-Hirji,R.,
            Baumann,C., Baxter,P., Bertini,E., Chandler,K.E., Chitayat,D.,
            Cau,D., Dery,C., Fazzi,E., Goizet,C., King,M.D., Klepper,J.,
            Lacombe,D., Lanzi,G., Lyall,H., Martinez-Frias,M.L., Mathieu,M.,
            McKeown,C., Monier,A., Oade,Y., Quarrell,O.W., Rittey,C.D.,
            Rogers,R.C., Sanchis,A., Stephenson,J.B., Tacke,U., Till,M.,
            Tolmie,J.L., Tomlin,P., Voit,T., Weschke,B., Woods,C.G., Lebon,P.,
            Bonthron,D.T., Ponting,C.P. and Jackson,A.P.
  TITLE     Mutations in genes encoding ribonuclease H2 subunits cause
            Aicardi-Goutieres syndrome and mimic congenital viral brain
            infection
  JOURNAL   Nat Genet 38 (8), 910-916 (2006)
   PUBMED   16845400
REFERENCE   7  (bases 1 to 2645)
  AUTHORS   Behlke,M.A., Bogan,J.S., Beer-Romero,P. and Page,D.C.
  TITLE     Evidence that the SRY protein is encoded by a single exon on the
            human Y chromosome
  JOURNAL   Genomics 17 (3), 736-739 (1993)
   PUBMED   8244390
  REMARK    GeneRIF: Describes an RNASEH2C pseudogene that is located close to
            the SRY gene on chromosome Y.
REFERENCE   8  (bases 1 to 2645)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24501781
REFERENCE   9  (bases 1 to 2645)
  AUTHORS   Crow,Y.J.
  TITLE     Aicardi-Goutieres Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301648
REFERENCE   10 (bases 1 to 2645)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC023588.2, AP001266.4 and
            BC000831.1.
            
            On Aug 31, 2019 this sequence version replaced NM_032193.3.
            
            Summary: This gene encodes a ribonuclease H subunit that can cleave
            ribonucleotides from RNA:DNA duplexes. Mutations in this gene cause
            Aicardi-Goutieres syndrome-3, a disease that causes severe
            neurologic dysfunction. A pseudogene for this gene has been
            identified on chromosome Y, near the sex determining region Y (SRY)
            gene. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853563.5732.1,
                                           SRR11853559.6247.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000308418.10/ ENSP00000308193.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-634               BC023588.2         21-654
            635-2619            AP001266.4         17391-19375         c
            2620-2645           BC000831.1         876-901
FEATURES             Location/Qualifiers
     source          1..2645
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.1"
     gene            1..2645
                     /gene="RNASEH2C"
                     /gene_synonym="AGS3; AYP1"
                     /note="ribonuclease H2 subunit C"
                     /db_xref="GeneID:84153"
                     /db_xref="HGNC:HGNC:24116"
                     /db_xref="MIM:610330"
     exon            1..212
                     /gene="RNASEH2C"
                     /gene_synonym="AGS3; AYP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             41..535
                     /gene="RNASEH2C"
                     /gene_synonym="AGS3; AYP1"
                     /note="RNase H1 small subunit; RNase H2 subunit C;
                     ribonuclease HI subunit C; aicardi-Goutieres syndrome 3
                     protein"
                     /codon_start=1
                     /product="ribonuclease H2 subunit C"
                     /protein_id="NP_115569.2"
                     /db_xref="CCDS:CCDS8111.1"
                     /db_xref="GeneID:84153"
                     /db_xref="HGNC:HGNC:24116"
                     /db_xref="MIM:610330"
                     /translation="MESGDEAAIERHRVHLRSATLRDAVPATLHLLPCEVAVDGPAPV
                     GRFFTPAIRQGPEGLEVSFRGRCLRGEEVAVPPGLVGYVMVTEEKKVSMGKPDPLRDS
                     GTDDQEEEPLERDFDRFIGATANFSRFTLWGLETIPGPDAKVRGALTWPSLAAAIHAQ
                     VPED"
     exon            213..388
                     /gene="RNASEH2C"
                     /gene_synonym="AGS3; AYP1"
                     /inference="alignment:Splign:2.1.0"
     exon            389..508
                     /gene="RNASEH2C"
                     /gene_synonym="AGS3; AYP1"
                     /inference="alignment:Splign:2.1.0"
     exon            509..2645
                     /gene="RNASEH2C"
                     /gene_synonym="AGS3; AYP1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      613..618
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RNASEH2C"
                     /gene_synonym="AGS3; AYP1"
                     /note="hexamer: AATAAA"
     polyA_site      634
                     /gene="RNASEH2C"
                     /gene_synonym="AGS3; AYP1"
                     /note="major polyA site"
     regulatory      2620..2625
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RNASEH2C"
                     /gene_synonym="AGS3; AYP1"
                     /note="hexamer: AATAAA"
     polyA_site      2645
                     /gene="RNASEH2C"
                     /gene_synonym="AGS3; AYP1"
ORIGIN      
        1 agtgtcagct cgcgagccct ggcgtcgcgt aggagggagg atggagagcg gcgacgaagc
       61 ggccatcgag aggcaccgcg tccacttgcg ctccgccaca ttgcgcgacg ccgtacccgc
      121 cacactgcat ctgctgccct gcgaggttgc ggtggacggg cccgccccgg tggggcgctt
      181 cttcacgccc gccatccgcc agggccccga gggactcgaa gtgtcgtttc ggggccgctg
      241 tctacgggga gaggaggtgg cggtgccgcc tggcctcgtg ggatacgtga tggtgacaga
      301 agagaagaag gtgtcgatgg ggaagccaga ccccttgcgg gattccggga ctgacgacca
      361 agaggaggag ccgctggagc gggacttcga ccgcttcatt ggagccactg ccaacttcag
      421 ccgcttcacc ctgtggggtc tggagaccat ccctggcccg gatgccaaag tgcgtggggc
      481 cttaacttgg cccagccttg cggcagcgat tcacgcacag gtgcccgagg actgagaacc
      541 agagcttgaa attcaaagct gcgatccctt cacagcagta aaccagctct ttggaaccga
      601 ttccatcacc ccaataaagg agctcttcac agcacctgtg agtctgggcg ccttagagcc
      661 cctaagccag catgggccct ttccccctcc ccaccaagaa ctttgcatgg ctctggcata
      721 tagaaacaat ttattgccgg gggcaatagg ggtaagagaa gccagaaatt tttgcagcca
      781 gcacccaccc cacccccaac ttctacttta caaaagaaat ttttacaatc accagccctc
      841 tgtacagagc tcccccatcc ggatcccttc tcactgtaca cagctgcctg gctccctctg
      901 gtccctgctt cagaggaggc ctgggcctgt ggccagctga ccttggagtt ggtctgagcc
      961 cggagctcgc cttggtgctg ggcaccagtg ggcccctgcc aggcctgtcc tctccttttt
     1021 gagctgtcct cagccccatc tcccttagag tgctttgtgg gagctgcagt gggggcgggg
     1081 tgggctatca gccccagtcc tgctgccgtc ttggcactgc agtgggcagt gtctggtcac
     1141 cacttccccc tcttgctcca gtccttggga gtgaagtgca gacacttgga gtcgatccgc
     1201 aggagccgct tgagcatggc ccgctcatgg ccatccacga tgtcctctga cagtgtgagg
     1261 atgtactggc cctgggcaga ggagatgggt tcagcaggtg gtcagcccac agaggactgc
     1321 actctgcatc ccacacacct gtctcccctg cctgcctccc taccttgtag tagttgatga
     1381 gattgaggta ctgcagagtg gagatgacat cctccttctt gatgctggtg atttcactaa
     1441 tctcactgtg ggagagcaca ggtcaggttc cctgaggacc tttatctgtc cccaggagcc
     1501 ctgagagaga aagcccagga acagacaagc catgccatgt acccccaggt agacagcgcc
     1561 aggctcactt gatggtgatc tgtggcctct ccccgctctc cgacttcagc cccatcagga
     1621 tctccaggat ggtctgggac cagtagcttc gataggatag gaggccaagg tctgagaggg
     1681 gcttctcagg ggtccctgtt ttcccttcca ctttggagag ttcatagcct aaagcaatgg
     1741 agcaggagag ggtgagtaag aggtcacaga tgaacataag caacatttaa aaacacaggt
     1801 tgccaaggca ggctgcctag ttcctatcat ggccctgcca cttggcagtt ctatgccctc
     1861 cacttctctg tgcctcagtt ccctcaggaa gaactgagta ttcactcttt ccgtgcgctg
     1921 agcacagtgg agggcatgag ggcactgaga ggagcagctg cagtcaacca tgagggtgat
     1981 cagaggccag tgaaggctta tgggcagggg atgcagagaa aatggctcat gggaagaagg
     2041 ggcctccaat tttcctttgc catcccgggc tctgtgtcta gccatgtaag gaagtggaga
     2101 cagattcctg tctctaatcc agacctgaga atgcttgaat tctcaaagtc ctcctagctg
     2161 ggaccttggg agtgtcacct gctgtaagac ttgagtggcc tgactgggtg gttgtgagga
     2221 tgcaaggaga aaaggtgcac caaggtgctt cctaagtcgg ggagaccatt cctgggagcc
     2281 acgtgactga cccccaccat ggctctttcc ctccaactcg tgctgatagc tggccgctgg
     2341 gaggccgtcc ccagtgagat cctcagaccc tgcacagccc tgagtggctt cacatctctt
     2401 ggtcagtgtc ttcattctcc ccagtcaggg acctgggatg tttgttactt ctagaagccc
     2461 ttcctcaccc tcataatgga ccttagcccc ttgctggtcc cactcacatc ccgtctccat
     2521 tgctgtctga gttccaagac tgagtttctt caagcatcca cttgtgctac caggctgaga
     2581 agttctgagg atgtgacccc atctgggcat catttaacca ataaaatttc tcgaatggac
     2641 cataa
//
