LOCUS       NM_001374               1349 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens deoxyribonuclease 1 like 2 (DNASE1L2), transcript
            variant 1, mRNA.
ACCESSION   NM_001374
VERSION     NM_001374.3
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 1349)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 1349)
  AUTHORS   Liu,C.R. and Meng,F.H.
  TITLE     DNASE1L2, as a Carcinogenic Marker, Affects the Phenotype of Breast
            Cancer Cells Via Regulating Epithelial-Mesenchymal Transition
            Process
  JOURNAL   Cancer Biother Radiopharm 36 (2), 180-188 (2021)
   PUBMED   32343605
  REMARK    GeneRIF: DNASE1L2, as a Carcinogenic Marker, Affects the Phenotype
            of Breast Cancer Cells Via Regulating Epithelial-Mesenchymal
            Transition Process.
REFERENCE   3  (bases 1 to 1349)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   4  (bases 1 to 1349)
  AUTHORS   Ueki,M., Takeshita,H., Utsunomiya,N., Chino,T., Oyama,N.,
            Hasegawa,M., Kimura-Kataoka,K., Fujihara,J., Iida,R. and Yasuda,T.
  TITLE     Survey of single-nucleotide polymorphisms in the gene encoding
            human deoxyribonuclease I-like 2 producing loss of function
            potentially implicated in the pathogenesis of parakeratosis
  JOURNAL   PLoS One 12 (4), e0175083 (2017)
   PUBMED   28394916
  REMARK    GeneRIF: Study surveyed the non-synonymous SNPs of DNASE1L2: 19
            SNPs originating from frameshift/nonsense mutations found in
            DNASE1L2 resulted in loss of function of the enzyme. Thus, the
            present findings suggest that each of the minor alleles for these
            SNPs may serve as one of genetic risk factors for parakeratotic
            skin diseases such as psoriasis, even though they lack a worldwide
            genetic distribution.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1349)
  AUTHORS   Ueki,M., Takeshita,H., Kimura-Kataoka,K., Fujihara,J., Iida,R. and
            Yasuda,T.
  TITLE     Identification of functional SNPs potentially served as a genetic
            risk factor for the pathogenesis of parakeratosis in the gene
            encoding human deoxyribonuclease I-like 2 (DNase 1L2) implicated in
            terminal differentiation of keratinocytes
  JOURNAL   Gene 561 (1), 15-22 (2015)
   PUBMED   25576224
  REMARK    GeneRIF: DNASE1L2 is generally well conserved with regard to the
            non-synonymous single nucleotide polymorphisms, thereby avoiding
            any marked reduction of the enzyme activity in human populations.
REFERENCE   6  (bases 1 to 1349)
  AUTHORS   Fischer,H., Eckhart,L., Mildner,M., Jaeger,K., Buchberger,M.,
            Ghannadan,M. and Tschachler,E.
  TITLE     DNase1L2 degrades nuclear DNA during corneocyte formation
  JOURNAL   J Invest Dermatol 127 (1), 24-30 (2007)
   PUBMED   16902420
  REMARK    GeneRIF: DNase1L2 plays an essential role in DNA degradation during
            terminal differentiation of epidermal KC.
REFERENCE   7  (bases 1 to 1349)
  AUTHORS   Shiokawa,D., Matsushita,T., Kobayashi,T., Matsumoto,Y. and
            Tanuma,S.
  TITLE     Characterization of the human DNAS1L2 gene and the molecular
            mechanism for its transcriptional activation induced by
            inflammatory cytokines
  JOURNAL   Genomics 84 (1), 95-105 (2004)
   PUBMED   15203207
  REMARK    GeneRIF: DNAS1L2 is activated via the NF-kappaB pathway, and an
            NF-kappaB binding site located within the 5' flanking region is
            identified as the cis-responsive element
REFERENCE   8  (bases 1 to 1349)
  AUTHORS   Shiokawa,D. and Tanuma,S.
  TITLE     Characterization of human DNase I family endonucleases and
            activation of DNase gamma during apoptosis
  JOURNAL   Biochemistry 40 (1), 143-152 (2001)
   PUBMED   11141064
REFERENCE   9  (bases 1 to 1349)
  AUTHORS   Rodriguez,A.M., Rodin,D., Nomura,H., Morton,C.C., Weremowicz,S. and
            Schneider,M.C.
  TITLE     Identification, localization, and expression of two novel human
            genes similar to deoxyribonuclease I
  JOURNAL   Genomics 42 (3), 507-513 (1997)
   PUBMED   9205125
REFERENCE   10 (bases 1 to 1349)
  AUTHORS   Germino,G.G., Weinstat-Saslow,D., Himmelbauer,H., Gillespie,G.A.,
            Somlo,S., Wirth,B., Barton,N., Harris,K.L., Frischauf,A.M. and
            Reeders,S.T.
  TITLE     The gene for autosomal dominant polycystic kidney disease lies in a
            750-kb CpG-rich region
  JOURNAL   Genomics 13 (1), 144-151 (1992)
   PUBMED   1577479
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC009065.8 and BC063710.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001374.2.
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Both variants 1 and 2 encode the same protein.
            
            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 :: BC063710.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000320700.10/ ENSP00000316938.5
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-23                AC009065.8         40946-40968         c
            24-1349             BC063710.1         1-1326
FEATURES             Location/Qualifiers
     source          1..1349
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..1349
                     /gene="DNASE1L2"
                     /gene_synonym="DNAS1L2"
                     /note="deoxyribonuclease 1 like 2"
                     /db_xref="GeneID:1775"
                     /db_xref="HGNC:HGNC:2958"
                     /db_xref="MIM:602622"
     exon            1..117
                     /gene="DNASE1L2"
                     /gene_synonym="DNAS1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            118..300
                     /gene="DNASE1L2"
                     /gene_synonym="DNAS1L2"
                     /inference="alignment:Splign:2.1.0"
     CDS             157..1056
                     /gene="DNASE1L2"
                     /gene_synonym="DNAS1L2"
                     /EC_number="3.1.21.1"
                     /note="DNase I-like 2; DNase I homolog protein DHP1;
                     deoxyribonuclease I like 2"
                     /codon_start=1
                     /product="deoxyribonuclease-1-like 2 precursor"
                     /protein_id="NP_001365.1"
                     /db_xref="CCDS:CCDS42105.1"
                     /db_xref="GeneID:1775"
                     /db_xref="HGNC:HGNC:2958"
                     /db_xref="MIM:602622"
                     /translation="MGGPRALLAALWALEAAGTAALRIGAFNIQSFGDSKVSDPACGS
                     IIAKILAGYDLALVQEVRDPDLSAVSALMEQINSVSEHEYSFVSSQPLGRDQYKEMYL
                     FVYRKDAVSVVDTYLYPDPEDVFSREPFVVKFSAPGTGERAPPLPSRRALTPPPLPAA
                     AQNLVLIPLHAAPHQAVAEIDALYDVYLDVIDKWGTDDMLFLGDFNADCSYVRAQDWA
                     AIRLRSSEVFKWLIPDSADTTVGNSDCAYDRIVACGARLRRSLKPQSATVHDFQEEFG
                     LDQTQALAISDHFPVEVTLKFHR"
     exon            301..389
                     /gene="DNASE1L2"
                     /gene_synonym="DNAS1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            390..473
                     /gene="DNASE1L2"
                     /gene_synonym="DNAS1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            474..747
                     /gene="DNASE1L2"
                     /gene_synonym="DNAS1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            748..999
                     /gene="DNASE1L2"
                     /gene_synonym="DNAS1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1000..1349
                     /gene="DNASE1L2"
                     /gene_synonym="DNAS1L2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1318..1323
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNASE1L2"
                     /gene_synonym="DNAS1L2"
                     /note="hexamer: AATAAA"
     polyA_site      1349
                     /gene="DNASE1L2"
                     /gene_synonym="DNAS1L2"
                     /note="major polyA site"
ORIGIN      
        1 agagctactg ccagagggag tcagtgcagt cctgtgtcgg acacgcccgc agcctggacc
       61 cgggatcccc atccccctag gatctctgag cctcgggcct ctgcacccac atccaaggcg
      121 gcagcgtctg tccctcccag cctctcgctc cgcgccatgg gcgggccccg ggctctgctg
      181 gccgcactct gggcgctgga agccgccggg accgccgcgc ttcgcatcgg agccttcaac
      241 attcagagct tcggtgacag caaagtgtcg gaccccgctt gcggcagcat catcgcgaag
      301 atcctggctg gctatgacct cgcgctggtg caggaggtgc gagacccaga cctcagcgcc
      361 gtgtccgcgc tcatggagca gatcaacagc gtgtccgagc acgagtacag ctttgtgagc
      421 agccagcccc tgggccggga ccagtacaag gagatgtacc tgttcgtgta caggaaagac
      481 gcggtgtcgg tcgtggacac ctacctgtac ccagaccccg aggacgtctt cagccgcgag
      541 cccttcgtgg tcaagttctc ggcccccggc accggtgagc gggccccgcc cctcccctcc
      601 cgccgagctc tgacgccccc accccttccc gcagcagcac agaacctggt gctgatcccg
      661 ctgcacgcgg cgccgcatca agccgtggcg gagatcgacg cgctctacga cgtgtacctg
      721 gacgtgatcg acaagtgggg caccgacgac atgctgttcc tgggcgactt caacgccgac
      781 tgcagctatg tgcgggcgca ggactgggcc gccatccgtc tgaggagcag tgaggtcttc
      841 aagtggctca tccctgacag cgccgacacc acggtgggca actcagactg cgcctacgac
      901 cgcattgtgg cctgtggcgc ccgcctgcgc cggagcctga agccccagtc ggccaccgtg
      961 cacgacttcc aggaggaatt cggcctggac cagactcagg ctcttgccat cagcgaccac
     1021 tttccagtgg aggtgaccct caagttccac cgatgactcg aggcctggct ggggcatgcc
     1081 acctgcagac cctggctctg aggaatggcc caacagtggc cccttcaggg tggcagccac
     1141 ccttcagtga ggccccaagg cagagtcggc tgggcgtgga ccaggggcca tggacacgtg
     1201 atgtgctgct ctgtacctcc gttccccatc tgtgggacgg gctgcatcca gcgacctcat
     1261 ggggtgttgt gagccccatg aggggtgcag ggggcactgc ccggcagatg tctgctcaat
     1321 aaatgagctg ctcccggtcg ggccccaca
//
