LOCUS       NM_004944               1414 bp    mRNA    linear   PRI 24-SEP-2024
DEFINITION  Homo sapiens deoxyribonuclease 1L3 (DNASE1L3), transcript variant
            1, mRNA.
ACCESSION   NM_004944
VERSION     NM_004944.4
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 1414)
  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 1414)
  AUTHORS   Montorsi,L., Pitcher,M.J., Zhao,Y., Dionisi,C., Demonti,A.,
            Tull,T.J., Dhami,P., Ellis,R.J., Bishop,C., Sanderson,J.D.,
            Jain,S., D'Cruz,D., Gibbons,D.L., Winkler,T.H., Bemark,M.,
            Ciccarelli,F.D. and Spencer,J.
  TITLE     Double-negative B cells and DNASE1L3 colocalise with microbiota in
            gut-associated lymphoid tissue
  JOURNAL   Nat Commun 15 (1), 4051 (2024)
   PUBMED   38744839
  REMARK    GeneRIF: Double-negative B cells and DNASE1L3 colocalise with
            microbiota in gut-associated lymphoid tissue.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1414)
  AUTHORS   Yu,L. and Huang,J.
  TITLE     Deoxyribonuclease 1-like 3 inhibits colorectal malignancy through
            antagonizing NEDD4-triggered CDKN1A ubiquitination
  JOURNAL   Cell Biol Int 48 (3), 325-333 (2024)
   PUBMED   38108119
  REMARK    GeneRIF: Deoxyribonuclease 1-like 3 inhibits colorectal malignancy
            through antagonizing NEDD4-triggered CDKN1A ubiquitination.
REFERENCE   4  (bases 1 to 1414)
  AUTHORS   Huang,J., Mao,T., Zhang,J., Li,Z. and Wu,Q.
  TITLE     [Decreased DNase1L3 secretion and associated antibodies induce
            impaired degradation of NETs in patients with sporadic SLE]
  JOURNAL   Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi 40 (1), 43-50 (2024)
   PUBMED   38246176
  REMARK    GeneRIF: [Decreased DNase1L3 secretion and associated antibodies
            induce impaired degradation of NETs in patients with sporadic SLE].
REFERENCE   5  (bases 1 to 1414)
  AUTHORS   Al-Mayouf,S.M., Sunker,A., Abdwani,R., Abrawi,S.A., Almurshedi,F.,
            Alhashmi,N., Al Sonbul,A., Sewairi,W., Qari,A., Abdallah,E.,
            Al-Owain,M., Al Motywee,S., Al-Rayes,H., Hashem,M., Khalak,H.,
            Al-Jebali,L. and Alkuraya,F.S.
  TITLE     Loss-of-function variant in DNASE1L3 causes a familial form of
            systemic lupus erythematosus
  JOURNAL   Nat Genet 43 (12), 1186-1188 (2011)
   PUBMED   22019780
  REMARK    GeneRIF: We identified a rare autosomal recessive form of systemic
            lupus erythematosus, in which autozygome analysis revealed a null
            mutation in the DNASE1L3 gene
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1414)
  AUTHORS   Wilber,A., Lu,M. and Schneider,M.C.
  TITLE     Deoxyribonuclease I-like III is an inducible macrophage barrier to
            liposomal transfection
  JOURNAL   Mol Ther 6 (1), 35-42 (2002)
   PUBMED   12095301
REFERENCE   7  (bases 1 to 1414)
  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   8  (bases 1 to 1414)
  AUTHORS   Baron,W.F., Pan,C.Q., Spencer,S.A., Ryan,A.M., Lazarus,R.A. and
            Baker,K.P.
  TITLE     Cloning and characterization of an actin-resistant DNase I-like
            endonuclease secreted by macrophages
  JOURNAL   Gene 215 (2), 291-301 (1998)
   PUBMED   9714828
REFERENCE   9  (bases 1 to 1414)
  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 1414)
  AUTHORS   Zeng,Z., Parmelee,D., Hyaw,H., Coleman,T.A., Su,K., Zhang,J.,
            Gentz,R., Ruben,S., Rosen,C. and Li,Y.
  TITLE     Cloning and characterization of a novel human DNase
  JOURNAL   Biochem Biophys Res Commun 231 (2), 499-504 (1997)
   PUBMED   9070308
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI521582.1, BC015831.1,
            AI660448.1 and AC137936.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_004944.3.
            
            Summary: This gene encodes a member of the deoxyribonuclease I
            family. The encoded protein hydrolyzes DNA, is not inhibited by
            actin, and mediates the breakdown of DNA during apoptosis.
            Mutations in this gene are a cause of systemic lupus
            erythematosus-16. Alternatively spliced transcript variants
            encoding multiple isoforms have been observed for this gene.
            [provided by RefSeq, Feb 2012].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: AF047354.1, U56814.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000394549.7/ ENSP00000378053.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-61                BI521582.1         241-301
            62-1039             BC015831.1         63-1040
            1040-1045           AI660448.1         1-6                 c
            1046-1414           AC137936.3         138231-138599       c
FEATURES             Location/Qualifiers
     source          1..1414
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p14.3"
     gene            1..1414
                     /gene="DNASE1L3"
                     /gene_synonym="D3; DHP2; DNAS1L3; LSD; SLEB16"
                     /note="deoxyribonuclease 1L3"
                     /db_xref="GeneID:1776"
                     /db_xref="HGNC:HGNC:2959"
                     /db_xref="MIM:602244"
     exon            1..207
                     /gene="DNASE1L3"
                     /gene_synonym="D3; DHP2; DNAS1L3; LSD; SLEB16"
                     /inference="alignment:Splign:2.1.0"
     CDS             67..984
                     /gene="DNASE1L3"
                     /gene_synonym="D3; DHP2; DNAS1L3; LSD; SLEB16"
                     /EC_number="3.1.21.-"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; DNase gamma; deoxyribonuclease gamma; DNase I
                     homolog protein 2; deoxyribonuclease 1 like 3; Liver and
                     spleen DNase; LS-DNase; deoxyribonuclease I-like III;
                     DNase I-like 3; DNase I homolog protein DHP2;
                     deoxyribonuclease I-like 3; DNaseY"
                     /codon_start=1
                     /product="deoxyribonuclease gamma isoform 1 precursor"
                     /protein_id="NP_004935.1"
                     /db_xref="CCDS:CCDS2886.1"
                     /db_xref="GeneID:1776"
                     /db_xref="HGNC:HGNC:2959"
                     /db_xref="MIM:602244"
                     /translation="MSRELAPLLLLLLSIHSALAMRICSFNVRSFGESKQEDKNAMDV
                     IVKVIKRCDIILVMEIKDSNNRICPILMEKLNRNSRRGITYNYVISSRLGRNTYKEQY
                     AFLYKEKLVSVKRSYHYHDYQDGDADVFSREPFVVWFQSPHTAVKDFVIIPLHTTPET
                     SVKEIDELVEVYTDVKHRWKAENFIFMGDFNAGCSYVPKKAWKNIRLRTDPRFVWLIG
                     DQEDTTVKKSTNCAYDRIVLRGQEIVSSVVPKSNSVFDFQKAYKLTEEEALDVSDHFP
                     VEFKLQSSRAFTNSKKSVTLRKKTKSKRS"
     exon            208..296
                     /gene="DNASE1L3"
                     /gene_synonym="D3; DHP2; DNAS1L3; LSD; SLEB16"
                     /inference="alignment:Splign:2.1.0"
     exon            297..386
                     /gene="DNASE1L3"
                     /gene_synonym="D3; DHP2; DNAS1L3; LSD; SLEB16"
                     /inference="alignment:Splign:2.1.0"
     exon            387..499
                     /gene="DNASE1L3"
                     /gene_synonym="D3; DHP2; DNAS1L3; LSD; SLEB16"
                     /inference="alignment:Splign:2.1.0"
     exon            500..612
                     /gene="DNASE1L3"
                     /gene_synonym="D3; DHP2; DNAS1L3; LSD; SLEB16"
                     /inference="alignment:Splign:2.1.0"
     exon            613..770
                     /gene="DNASE1L3"
                     /gene_synonym="D3; DHP2; DNAS1L3; LSD; SLEB16"
                     /inference="alignment:Splign:2.1.0"
     exon            771..867
                     /gene="DNASE1L3"
                     /gene_synonym="D3; DHP2; DNAS1L3; LSD; SLEB16"
                     /inference="alignment:Splign:2.1.0"
     exon            868..1414
                     /gene="DNASE1L3"
                     /gene_synonym="D3; DHP2; DNAS1L3; LSD; SLEB16"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1024..1029
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNASE1L3"
                     /gene_synonym="D3; DHP2; DNAS1L3; LSD; SLEB16"
                     /note="hexamer: AATAAA"
     polyA_site      1043
                     /gene="DNASE1L3"
                     /gene_synonym="D3; DHP2; DNAS1L3; LSD; SLEB16"
                     /note="major polyA site"
     regulatory      1069..1074
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNASE1L3"
                     /gene_synonym="D3; DHP2; DNAS1L3; LSD; SLEB16"
                     /note="hexamer: AACAAG"
     polyA_site      1070
                     /gene="DNASE1L3"
                     /gene_synonym="D3; DHP2; DNAS1L3; LSD; SLEB16"
     polyA_site      1093
                     /gene="DNASE1L3"
                     /gene_synonym="D3; DHP2; DNAS1L3; LSD; SLEB16"
ORIGIN      
        1 gccagaatcc agcactccaa gcactgctgt cttctcacag agtcttgaag ccagagcagc
       61 gccaggatgt cacgggagct ggccccactg ctgcttctcc tcctctccat ccacagcgcc
      121 ctggccatga ggatctgctc cttcaacgtc aggtcctttg gggaaagcaa gcaggaagac
      181 aagaatgcca tggatgtcat tgtgaaggtc atcaaacgct gtgacatcat actcgtgatg
      241 gaaatcaagg acagcaacaa caggatctgc cccatactga tggagaagct gaacagaaat
      301 tcaaggagag gcataacgta caactatgtg attagctctc ggcttggaag aaacacatat
      361 aaagaacaat atgcctttct ctacaaggaa aagctggtgt ctgtgaagag gagttatcac
      421 taccatgact atcaggatgg agacgcagat gtgttttcca gggagccctt tgtggtctgg
      481 ttccaatctc cccacactgc tgtcaaagac ttcgtgatta tccccctgca caccacccca
      541 gagacatccg ttaaggagat cgatgagttg gttgaggtct acacggacgt gaaacaccgc
      601 tggaaggcgg agaatttcat tttcatgggt gacttcaatg ccggctgcag ctacgtcccc
      661 aagaaggcct ggaagaacat ccgcttgagg actgacccca ggtttgtttg gctgatcggg
      721 gaccaagagg acaccacggt gaagaagagc accaactgtg catatgacag gattgtgctt
      781 agaggacaag aaatcgtcag ttctgttgtt cccaagtcaa acagtgtttt tgacttccag
      841 aaagcttaca agctgactga agaggaggcc ctggatgtca gcgaccactt tccagttgaa
      901 tttaaactac agtcttcaag ggccttcacc aacagcaaaa aatctgtcac tctaaggaag
      961 aaaacaaaga gcaaacgctc ctagacccaa gggtctcatc ttattaacca tttcttgcct
     1021 ctaaataaaa tgtctctaac agatatgaac tgctccctgt acttaggaaa caagagtgat
     1081 ccaactgctt tcattttttg acctgaattt attctgactt gagccaaatt ggaaggagaa
     1141 tcttttgtat ctctcttggt ctcatacctc ccctgaattg tctaaaaggg aaccaggggc
     1201 atttgtagac caaaatgatg atcttcatgc cctgagccag agccccatcc actgtcactg
     1261 gccctgctca accctgtcat gcgagaggct gcagggggag gaagagcgtc agctttcagt
     1321 cctcatgagg ggtcctgttc cacacgcaat gaccagaaac accaaggccc cagctgcccc
     1381 tgtgatttgg gcaattaact gttttaagag tctg
//
