LOCUS       NM_001351825            1181 bp    mRNA    linear   PRI 24-SEP-2024
DEFINITION  Homo sapiens deoxyribonuclease 1 (DNASE1), transcript variant 2,
            mRNA.
ACCESSION   NM_001351825
VERSION     NM_001351825.2
KEYWORDS    RefSeq.
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 1181)
  AUTHORS   Stabach,P.R., Sims,D., Gomez-Banuelos,E., Zehentmeier,S.,
            Dammen-Brower,K., Bernhisel,A., Kujawski,S., Lopez,S.G., Petri,M.,
            Goldman,D.W., Lester,E.R., Le,Q., Ishaq,T., Kim,H., Srivastava,S.,
            Kumar,D., Pereira,J.P., Yarema,K.J., Koumpouras,F., Andrade,F. and
            Braddock,D.T.
  TITLE     A dual-acting DNASE1/DNASE1L3 biologic prevents autoimmunity and
            death in genetic and induced lupus models
  JOURNAL   JCI Insight 9 (14), e177003 (2024)
   PUBMED   38888971
  REMARK    GeneRIF: A dual-acting DNASE1/DNASE1L3 biologic prevents
            autoimmunity and death in genetic and induced lupus models.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1181)
  AUTHORS   Deng,G., Zou,X., Liu,Z., Ren,H., Li,Y., Chen,B. and Zhang,J.
  TITLE     The protective effect of DNase I in retinal vein occlusion
  JOURNAL   Biomol Biomed 24 (2), 387-394 (2024)
   PUBMED   37838927
  REMARK    GeneRIF: The protective effect of DNase I in retinal vein
            occlusion.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1181)
  AUTHORS   Kafil,A., Mohamadynejad,P. and Moghanibashi,M.
  TITLE     Significant Association of DNASE1 Variable Number Tandem Repeats
            and Single Nucleotide Polymorphisms With Gastric Cancer
  JOURNAL   Br J Biomed Sci 79, 10526 (2022)
   PUBMED   35996518
  REMARK    GeneRIF: Significant Association of DNASE1 Variable Number Tandem
            Repeats and Single Nucleotide Polymorphisms With Gastric Cancer.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1181)
  AUTHORS   Han,D.S.C. and Lo,Y.M.D.
  TITLE     The Nexus of cfDNA and Nuclease Biology
  JOURNAL   Trends Genet 37 (8), 758-770 (2021)
   PUBMED   34006390
  REMARK    GeneRIF: The Nexus of cfDNA and Nuclease Biology.
            Review article
REFERENCE   5  (bases 1 to 1181)
  AUTHORS   Hofbauer,T.M., Mangold,A., Ondracek,A.S., Panzenbock,A., Scherz,T.,
            Muller,J., Distelmaier,K., Seidl,V., Kastl,S., Muller-Nurasyid,M.,
            Peters,A., Strauch,K., Winker,R., Wohlschlager-Krenn,E., Nistler,S.
            and Lang,I.M.
  TITLE     Deoxyribonuclease 1 Q222R single nucleotide polymorphism and
            long-term mortality after acute myocardial infarction
  JOURNAL   Basic Res Cardiol 116 (1), 29 (2021)
   PUBMED   33891165
  REMARK    GeneRIF: Deoxyribonuclease 1 Q222R single nucleotide polymorphism
            and long-term mortality after acute myocardial infarction.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1181)
  AUTHORS   Shak,S., Capon,D.J., Hellmiss,R., Marsters,S.A. and Baker,C.L.
  TITLE     Recombinant human DNase I reduces the viscosity of cystic fibrosis
            sputum
  JOURNAL   Proc Natl Acad Sci U S A 87 (23), 9188-9192 (1990)
   PUBMED   2251263
REFERENCE   7  (bases 1 to 1181)
  AUTHORS   Kabsch,W., Mannherz,H.G., Suck,D., Pai,E.F. and Holmes,K.C.
  TITLE     Atomic structure of the actin:DNase I complex
  JOURNAL   Nature 347 (6288), 37-44 (1990)
   PUBMED   2395459
REFERENCE   8  (bases 1 to 1181)
  AUTHORS   Yasuda,T., Awazu,S., Sato,W., Iida,R., Tanaka,Y. and Kishi,K.
  TITLE     Human genetically polymorphic deoxyribonuclease: purification,
            characterization, and multiplicity of urine deoxyribonuclease I
  JOURNAL   J Biochem 108 (3), 393-398 (1990)
   PUBMED   2277032
REFERENCE   9  (bases 1 to 1181)
  AUTHORS   Kishi,K., Yasuda,T., Ikehara,Y., Sawazaki,K., Sato,W. and Iida,R.
  TITLE     Human serum deoxyribonuclease I (DNase I) polymorphism: pattern
            similarities among isozymes from serum, urine, kidney, liver, and
            pancreas
  JOURNAL   Am J Hum Genet 47 (1), 121-126 (1990)
   PUBMED   2349940
REFERENCE   10 (bases 1 to 1181)
  AUTHORS   Kishi,K., Yasuda,T., Awazu,S. and Mizuta,K.
  TITLE     Genetic polymorphism of human urine deoxyribonuclease I
  JOURNAL   Hum Genet 81 (3), 295-297 (1989)
   PUBMED   2921043
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC006111.4.
            
            On Sep 24, 2020 this sequence version replaced NM_001351825.1.
            
            Summary: This gene encodes a member of the DNase family. This
            protein is stored in the zymogen granules of the nuclear envelope
            and functions by cleaving DNA in an endonucleolytic manner. At
            least six autosomal codominant alleles have been characterized,
            DNASE1*1 through DNASE1*6, and the sequence of DNASE1*2 represented
            in this record. Mutations in this gene have been associated with
            systemic lupus erythematosus (SLE), an autoimmune disease. A
            recombinant form of this protein is used to treat the one of the
            symptoms of cystic fibrosis by hydrolyzing the extracellular DNA in
            sputum and reducing its viscosity. Alternate transcriptional splice
            variants of this gene have been observed but have not been
            thoroughly characterized. [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 :: SRR11853560.10550.1,
                                           ERR279831.6740.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-105               AC006111.4         112433-112537
            106-189             AC006111.4         112703-112786
            190-337             AC006111.4         113115-113262
            338-426             AC006111.4         113591-113679
            427-510             AC006111.4         113844-113927
            511-626             AC006111.4         114380-114495
            627-739             AC006111.4         114741-114853
            740-894             AC006111.4         114929-115083
            895-991             AC006111.4         115462-115558
            992-1181            AC006111.4         115648-115837
FEATURES             Location/Qualifiers
     source          1..1181
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..1181
                     /gene="DNASE1"
                     /gene_synonym="DNL1; DRNI"
                     /note="deoxyribonuclease 1"
                     /db_xref="GeneID:1773"
                     /db_xref="HGNC:HGNC:2956"
                     /db_xref="MIM:125505"
     exon            1..105
                     /gene="DNASE1"
                     /gene_synonym="DNL1; DRNI"
                     /inference="alignment:Splign:2.1.0"
     exon            106..189
                     /gene="DNASE1"
                     /gene_synonym="DNL1; DRNI"
                     /inference="alignment:Splign:2.1.0"
     exon            190..337
                     /gene="DNASE1"
                     /gene_synonym="DNL1; DRNI"
                     /inference="alignment:Splign:2.1.0"
     CDS             191..1039
                     /gene="DNASE1"
                     /gene_synonym="DNL1; DRNI"
                     /EC_number="3.1.21.1"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 2; Dornase alfa; human urine deoxyribonuclease I;
                     DNase I, lysosomal"
                     /codon_start=1
                     /product="deoxyribonuclease-1 isoform 1 precursor"
                     /protein_id="NP_001338754.1"
                     /db_xref="CCDS:CCDS10507.1"
                     /db_xref="GeneID:1773"
                     /db_xref="HGNC:HGNC:2956"
                     /db_xref="MIM:125505"
                     /translation="MRGMKLLGALLALAALLQGAVSLKIAAFNIQTFGETKMSNATLV
                     SYIVQILSRYDIALVQEVRDSHLTAVGKLLDNLNQDAPDTYHYVVSEPLGRNSYKERY
                     LFVYRPDQVSAVDSYYYDDGCEPCGNDTFNREPAIVRFFSRFTEVREFAIVPLHAAPG
                     DAVAEIDALYDVYLDVQEKWGLEDVMLMGDFNAGCSYVRPSQWSSIRLWTSPTFQWLI
                     PDSADTTATPTHCAYDRIVVAGMLLRGAVVPDSALPFNFQAAYGLSDQLAQAISDHYP
                     VEVMLK"
     exon            338..426
                     /gene="DNASE1"
                     /gene_synonym="DNL1; DRNI"
                     /inference="alignment:Splign:2.1.0"
     exon            427..510
                     /gene="DNASE1"
                     /gene_synonym="DNL1; DRNI"
                     /inference="alignment:Splign:2.1.0"
     exon            511..626
                     /gene="DNASE1"
                     /gene_synonym="DNL1; DRNI"
                     /inference="alignment:Splign:2.1.0"
     exon            627..739
                     /gene="DNASE1"
                     /gene_synonym="DNL1; DRNI"
                     /inference="alignment:Splign:2.1.0"
     exon            740..894
                     /gene="DNASE1"
                     /gene_synonym="DNL1; DRNI"
                     /inference="alignment:Splign:2.1.0"
     exon            895..991
                     /gene="DNASE1"
                     /gene_synonym="DNL1; DRNI"
                     /inference="alignment:Splign:2.1.0"
     exon            992..1181
                     /gene="DNASE1"
                     /gene_synonym="DNL1; DRNI"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1154..1159
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNASE1"
                     /gene_synonym="DNL1; DRNI"
                     /note="hexamer: AATAAA"
     polyA_site      1181
                     /gene="DNASE1"
                     /gene_synonym="DNL1; DRNI"
                     /note="major polyA site"
ORIGIN      
        1 gcagttttta cagcagcaag aaacctgtgc ttacagaaag aaacacgtgc tagcaaccca
       61 cctatgcgga aagccacaca gagccattgt tttctgcact ctcagcaaaa ggagaaaatt
      121 gtcatcaaag gatattccag attcttgaca gcattctcgt catctctgag gacatcacca
      181 tcatctcagg atgaggggca tgaagctgct gggggcgctg ctggcactgg cggccctact
      241 gcagggggcc gtgtccctga agatcgcagc cttcaacatc cagacatttg gggagaccaa
      301 gatgtccaat gccaccctcg tcagctacat tgtgcagatc ctgagccgct atgacatcgc
      361 cctggtccag gaggtcagag acagccacct gactgccgtg gggaagctgc tggacaacct
      421 caatcaggat gcaccagaca cctatcacta cgtggtcagt gagccactgg gacggaacag
      481 ctataaggag cgctacctgt tcgtgtacag gcctgaccag gtgtctgcgg tggacagcta
      541 ctactacgat gatggctgcg agccctgcgg gaacgacacc ttcaaccgag agccagccat
      601 tgtcaggttc ttctcccggt tcacagaggt cagggagttt gccattgttc ccctgcatgc
      661 ggccccgggg gacgcagtag ccgagatcga cgctctctat gacgtctacc tggatgtcca
      721 agagaaatgg ggcttggagg acgtcatgtt gatgggcgac ttcaatgcgg gctgcagcta
      781 tgtgagaccc tcccagtggt catccatccg cctgtggaca agccccacct tccagtggct
      841 gatccccgac agcgctgaca ccacagctac acccacgcac tgtgcctatg acaggatcgt
      901 ggttgcaggg atgctgctcc gaggcgccgt tgttcccgac tcggctcttc cctttaactt
      961 ccaggctgcc tatggcctga gtgaccaact ggcccaagcc atcagtgacc actatccagt
     1021 ggaggtgatg ctgaagtgag cagcccctcc ccacaccagt tgaactgcag gaagagagga
     1081 cccatcctgc cacaggaccc agaaaaaaag cccaacacac actcgggtta agaaatacct
     1141 ttaaatttag gtaaataaag ctcaaggagg tggggctgtc a
//
