LOCUS       NM_006397               1164 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens ribonuclease H2 subunit A (RNASEH2A), mRNA.
ACCESSION   NM_006397
VERSION     NM_006397.3
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 1164)
  AUTHORS   Sugawara,S., Okada,R., Loo,T.M., Tanaka,H., Miyata,K., Chiba,M.,
            Kawasaki,H., Katoh,K., Kaji,S., Maezawa,Y., Yokote,K., Nakayama,M.,
            Oshima,M., Nagao,K., Obuse,C., Nagayama,S., Takubo,K.,
            Nakanishi,A., Kanemaki,M.T., Hara,E. and Takahashi,A.
  TITLE     RNaseH2A downregulation drives inflammatory gene expression via
            genomic DNA fragmentation in senescent and cancer cells
  JOURNAL   Commun Biol 5 (1), 1420 (2022)
   PUBMED   36577784
  REMARK    GeneRIF: RNaseH2A downregulation drives inflammatory gene
            expression via genomic DNA fragmentation in senescent and cancer
            cells.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1164)
  AUTHORS   Kimura,N., Takayama,K.I., Yamada,Y., Kume,H., Fujimura,T. and
            Inoue,S.
  TITLE     Ribonuclease H2 Subunit A Preserves Genomic Integrity and Promotes
            Prostate Cancer Progression
  JOURNAL   Cancer Res Commun 2 (8), 870-883 (2022)
   PUBMED   36923313
  REMARK    GeneRIF: Ribonuclease H2 Subunit A Preserves Genomic Integrity and
            Promotes Prostate Cancer Progression.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1164)
  AUTHORS   Ghosh,D., Kumari,S. and Raghavan,S.C.
  TITLE     Depletion of RNASEH2 Activity Leads to Accumulation of DNA
            Double-strand Breaks and Reduced Cellular Survivability in T Cell
            Leukemia
  JOURNAL   J Mol Biol 434 (12), 167617 (2022)
   PUBMED   35500843
  REMARK    GeneRIF: Depletion of RNASEH2 Activity Leads to Accumulation of DNA
            Double-strand Breaks and Reduced Cellular Survivability in T Cell
            Leukemia.
REFERENCE   4  (bases 1 to 1164)
  AUTHORS   Cristini,A., Tellier,M., Constantinescu,F., Accalai,C.,
            Albulescu,L.O., Heiringhoff,R., Bery,N., Sordet,O., Murphy,S. and
            Gromak,N.
  TITLE     RNase H2, mutated in Aicardi-Goutieres syndrome, resolves
            co-transcriptional R-loops to prevent DNA breaks and inflammation
  JOURNAL   Nat Commun 13 (1), 2961 (2022)
   PUBMED   35618715
  REMARK    GeneRIF: RNase H2, mutated in Aicardi-Goutieres syndrome, resolves
            co-transcriptional R-loops to prevent DNA breaks and inflammation.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1164)
  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 1164)
  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 1164)
  AUTHORS   Frank,P., Braunshofer-Reiter,C., Wintersberger,U., Grimm,R. and
            Busen,W.
  TITLE     Cloning of the cDNA encoding the large subunit of human RNase HI, a
            homologue of the prokaryotic RNase HII
  JOURNAL   Proc Natl Acad Sci U S A 95 (22), 12872-12877 (1998)
   PUBMED   9789007
REFERENCE   8  (bases 1 to 1164)
  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 1164)
  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 1164)
  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 AK315327.1, AY363912.1 and
            BM664190.1.
            
            On Nov 22, 2019 this sequence version replaced NM_006397.2.
            
            Summary: The protein encoded by this gene is a component of the
            heterotrimeric type II ribonuclease H enzyme (RNAseH2). RNAseH2 is
            the major source of ribonuclease H activity in mammalian cells and
            endonucleolytically cleaves ribonucleotides. It is predicted to
            remove Okazaki fragment RNA primers during lagging strand DNA
            synthesis and to excise single ribonucleotides from DNA-DNA
            duplexes. Mutations in this gene cause Aicardi-Goutieres Syndrome
            (AGS), a an autosomal recessive neurological disorder characterized
            by progressive microcephaly and psychomotor retardation,
            intracranial calcifications, elevated levels of interferon-alpha
            and white blood cells in the cerebrospinal fluid.[provided by
            RefSeq, Aug 2009].
            
            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 :: AK315327.1, AY363912.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000221486.6/ ENSP00000221486.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-990               AK315327.1         1-990
            991-1161            AY363912.1         950-1120
            1162-1164           BM664190.1         23-25               c
FEATURES             Location/Qualifiers
     source          1..1164
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.13"
     gene            1..1164
                     /gene="RNASEH2A"
                     /gene_synonym="AGS4; JUNB; RNASEHI; RNHIA; RNHL"
                     /note="ribonuclease H2 subunit A"
                     /db_xref="GeneID:10535"
                     /db_xref="HGNC:HGNC:18518"
                     /db_xref="MIM:606034"
     exon            1..217
                     /gene="RNASEH2A"
                     /gene_synonym="AGS4; JUNB; RNASEHI; RNHIA; RNHL"
                     /inference="alignment:Splign:2.1.0"
     CDS             91..990
                     /gene="RNASEH2A"
                     /gene_synonym="AGS4; JUNB; RNASEHI; RNHIA; RNHL"
                     /EC_number="3.1.26.4"
                     /note="ribonuclease H2, large subunit; RNase H(35); RNase
                     H2 subunit A; RNase HI large subunit; ribonuclease HI
                     subunit A; ribonuclease HI large subunit;
                     aicardi-Goutieres syndrome 4 protein"
                     /codon_start=1
                     /product="ribonuclease H2 subunit A"
                     /protein_id="NP_006388.2"
                     /db_xref="CCDS:CCDS12282.1"
                     /db_xref="GeneID:10535"
                     /db_xref="HGNC:HGNC:18518"
                     /db_xref="MIM:606034"
                     /translation="MDLSELERDNTGRCRLSSPVPAVCRKEPCVLGVDEAGRGPVLGP
                     MVYAICYCPLPRLADLEALKVADSKTLLESERERLFAKMEDTDFVGWALDVLSPNLIS
                     TSMLGRVKYNLNSLSHDTATGLIQYALDQGVNVTQVFVDTVGMPETYQARLQQSFPGI
                     EVTVKAKADALYPVVSAASICAKVARDQAVKKWQFVEKLQDLDTDYGSGYPNDPKTKA
                     WLKEHVEPVFGFPQFVRFSWRTAQTILEKEAEDVIWEDSASENQEGLRKITSYFLNEG
                     SQARPRSSHRYFLERGLESATSL"
     exon            218..289
                     /gene="RNASEH2A"
                     /gene_synonym="AGS4; JUNB; RNASEHI; RNHIA; RNHL"
                     /inference="alignment:Splign:2.1.0"
     exon            290..413
                     /gene="RNASEH2A"
                     /gene_synonym="AGS4; JUNB; RNASEHI; RNHIA; RNHL"
                     /inference="alignment:Splign:2.1.0"
     exon            414..501
                     /gene="RNASEH2A"
                     /gene_synonym="AGS4; JUNB; RNASEHI; RNHIA; RNHL"
                     /inference="alignment:Splign:2.1.0"
     exon            502..639
                     /gene="RNASEH2A"
                     /gene_synonym="AGS4; JUNB; RNASEHI; RNHIA; RNHL"
                     /inference="alignment:Splign:2.1.0"
     exon            640..727
                     /gene="RNASEH2A"
                     /gene_synonym="AGS4; JUNB; RNASEHI; RNHIA; RNHL"
                     /inference="alignment:Splign:2.1.0"
     exon            728..851
                     /gene="RNASEH2A"
                     /gene_synonym="AGS4; JUNB; RNASEHI; RNHIA; RNHL"
                     /inference="alignment:Splign:2.1.0"
     exon            852..1164
                     /gene="RNASEH2A"
                     /gene_synonym="AGS4; JUNB; RNASEHI; RNHIA; RNHL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1032..1037
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RNASEH2A"
                     /gene_synonym="AGS4; JUNB; RNASEHI; RNHIA; RNHL"
                     /note="hexamer: ATTAAA"
     polyA_site      1052
                     /gene="RNASEH2A"
                     /gene_synonym="AGS4; JUNB; RNASEHI; RNHIA; RNHL"
                     /note="major polyA site"
     regulatory      1140..1145
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RNASEH2A"
                     /gene_synonym="AGS4; JUNB; RNASEHI; RNHIA; RNHL"
                     /note="hexamer: AATAGA"
     polyA_site      1164
                     /gene="RNASEH2A"
                     /gene_synonym="AGS4; JUNB; RNASEHI; RNHIA; RNHL"
                     /note="major polyA site"
ORIGIN      
        1 aggcgccgct tcgaggcccg cggaaaacgc gcgccgagac ccgctcctgc agtattagtt
       61 cttgcagctg gtggtggcgg ctgaggcggc atggatctca gcgagctgga gagagacaat
      121 acaggccgct gtcgcctgag ttcgcctgtg cccgcggtgt gccgcaagga gccttgcgtc
      181 ctgggcgtcg atgaggcggg caggggcccc gtgctgggcc ccatggtcta cgccatctgt
      241 tattgtcccc tgcctcgcct ggcagatctg gaggcgctga aagtggcaga ctcaaagacc
      301 ctattggaga gcgagcggga aaggctgttt gcgaaaatgg aggacacgga ctttgtcggc
      361 tgggcgctgg atgtgctgtc tccaaacctc atctctacca gcatgcttgg gcgggtcaaa
      421 tacaacctga actccctgtc acatgataca gccactgggc ttatacagta tgcattggac
      481 cagggcgtga acgtcaccca ggtattcgtg gacaccgtag ggatgccaga gacataccag
      541 gcgcggctgc agcaaagttt tcccgggatt gaggtgacgg tcaaggccaa agcagatgcc
      601 ctctacccgg tggttagtgc tgccagcatc tgtgccaagg tggcccggga ccaggccgtg
      661 aagaaatggc agttcgtgga gaaactgcag gacttggata ctgattatgg ctcaggctac
      721 cccaatgatc ccaagacaaa agcgtggttg aaggagcacg tggagcctgt gttcggcttc
      781 ccccagtttg tccggttcag ctggcgcacg gcccagacca tcctggagaa agaggcggaa
      841 gatgttatat gggaggactc agcatccgag aatcaggagg gactcaggaa gatcacatcc
      901 tacttcctca atgaagggtc ccaagcccgt ccccgttctt cccaccgata tttcctggaa
      961 cgcggcctgg agtcagcaac cagcctctag cagctgcctc tacgcgctct acctgcttcc
     1021 ccaacccaga cattaaaatt gtttaaggag aaccacacgt aggggatgta cttttgggac
     1081 agaagcaagg tgggagtgtg ctctgcagcc gggtccagct acttcctttt ggaaccttaa
     1141 atagaatggg tgttggttga ttaa
//
