LOCUS       NM_001303620            2610 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens deoxyribonuclease 1 like 1 (DNASE1L1), transcript
            variant 5, mRNA.
ACCESSION   NM_001303620
VERSION     NM_001303620.2
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 2610)
  AUTHORS   Platek,T., Sordyl,M., Polus,A., Olszanecka,A., Kroczka,S. and
            Solnica,B.
  TITLE     Analysis of tafazzin and deoxyribonuclease 1 like 1 transcripts and
            X chromosome sequencing in the evaluation of the effect of
            mosaicism in the TAZ gene on phenotypes in a family affected by
            Barth syndrome
  JOURNAL   Mutat Res 826, 111812 (2023)
   PUBMED   36628843
  REMARK    GeneRIF: Analysis of tafazzin and deoxyribonuclease 1 like 1
            transcripts and X chromosome sequencing in the evaluation of the
            effect of mosaicism in the TAZ gene on phenotypes in a family
            affected by Barth syndrome.
REFERENCE   2  (bases 1 to 2610)
  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   3  (bases 1 to 2610)
  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 2610)
  AUTHORS   Fasci,D., van Ingen,H., Scheltema,R.A. and Heck,A.J.R.
  TITLE     Histone Interaction Landscapes Visualized by Crosslinking Mass
            Spectrometry in Intact Cell Nuclei
  JOURNAL   Mol Cell Proteomics 17 (10), 2018-2033 (2018)
   PUBMED   30021884
REFERENCE   5  (bases 1 to 2610)
  AUTHORS   Appierto,V., Bardella,L., Vijayasarathy,C., Avadhani,N.,
            Sgaramella,V. and Biunno,I.
  TITLE     Functional characterization of a human DNase-like protein encoded
            by a gene positioned in Xq28
  JOURNAL   Gene 188 (1), 119-122 (1997)
   PUBMED   9099869
REFERENCE   6  (bases 1 to 2610)
  AUTHORS   Chen,E.Y., Zollo,M., Mazzarella,R., Ciccodicola,A., Chen,C.N.,
            Zuo,L., Heiner,C., Burough,F., Repetto,M., Schlessinger,D. and
            D'Urso,M.
  TITLE     Long-range sequence analysis in Xq28: thirteen known and six
            candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and
            G6PD loci
  JOURNAL   Hum Mol Genet 5 (5), 659-668 (1996)
   PUBMED   8733135
REFERENCE   7  (bases 1 to 2610)
  AUTHORS   Coy,J.F., Velhagen,I., Himmele,R., Delius,H., Poustka,A. and
            Zentgraf,H.
  TITLE     Isolation, differential splicing and protein expression of a DNase
            on the human X chromosome
  JOURNAL   Cell Death Differ 3 (2), 199-206 (1996)
   PUBMED   17180083
REFERENCE   8  (bases 1 to 2610)
  AUTHORS   Pergolizzi,R., Appierto,V., Bosetti,A., DeBellis,G.L., Rovida,E.
            and Biunno,I.
  TITLE     Cloning of a gene encoding a DNase I-like endonuclease in the human
            Xq28 region
  JOURNAL   Gene 168 (2), 267-270 (1996)
   PUBMED   8654957
REFERENCE   9  (bases 1 to 2610)
  AUTHORS   Parrish,J.E., Ciccodicola,A., Wehhert,M., Cox,G.F., Chen,E. and
            Nelson,D.L.
  TITLE     A muscle-specific DNase I-like gene in human Xq28
  JOURNAL   Hum Mol Genet 4 (9), 1557-1564 (1995)
   PUBMED   8541839
REFERENCE   10 (bases 1 to 2610)
  AUTHORS   Bione,S., Tamanini,F., Maestrini,E., Tribioli,C., Poustka,A.,
            Torri,G., Rivella,S. and Toniolo,D.
  TITLE     Transcriptional organization of a 450-kb region of the human X
            chromosome in Xq28
  JOURNAL   Proc Natl Acad Sci U S A 90 (23), 10977-10981 (1993)
   PUBMED   8248200
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC028092.1, U06846.1,
            BE900752.1 and AW445150.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001303620.1.
            
            Summary: This gene encodes a deoxyribonuclease protein that shows
            high sequence similarity to DNase I. The encoded protein is
            localized to the endoplasmic reticulum and modified by N-linked
            glycosylation. Alternate transcriptional splice variants encoding
            the same protein have been observed. [provided by RefSeq, Jan
            2015].
            
            Transcript Variant: This variant (5) differs in the 5' UTR compared
            to variant 1. Variants 1, 2, 3, 4, and 5 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 :: ERR279839.837.1, U06846.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369807.6/ ENSP00000358822.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-39                BC028092.1         25-63
            40-1223             U06846.1           1-1184
            1224-2088           BC028092.1         1802-2666
            2089-2156           BE900752.1         204-271             c
            2157-2610           AW445150.1         16-469              c
FEATURES             Location/Qualifiers
     source          1..2610
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..2610
                     /gene="DNASE1L1"
                     /gene_synonym="DNAS1L1; DNASEX; DNL1L; G4.8; XIB"
                     /note="deoxyribonuclease 1 like 1"
                     /db_xref="GeneID:1774"
                     /db_xref="HGNC:HGNC:2957"
                     /db_xref="MIM:300081"
     exon            1..143
                     /gene="DNASE1L1"
                     /gene_synonym="DNAS1L1; DNASEX; DNL1L; G4.8; XIB"
                     /inference="alignment:Splign:2.1.0"
     exon            144..365
                     /gene="DNASE1L1"
                     /gene_synonym="DNAS1L1; DNASEX; DNL1L; G4.8; XIB"
                     /inference="alignment:Splign:2.1.0"
     CDS             231..1139
                     /gene="DNASE1L1"
                     /gene_synonym="DNAS1L1; DNASEX; DNL1L; G4.8; XIB"
                     /EC_number="3.1.21.-"
                     /note="DNase I-like, muscle-specific; DNase I,
                     lysosomal-like; DNase I-like 1; deoxyribonuclease I-like
                     1"
                     /codon_start=1
                     /product="deoxyribonuclease-1-like 1 precursor"
                     /protein_id="NP_001290549.1"
                     /db_xref="CCDS:CCDS14747.1"
                     /db_xref="GeneID:1774"
                     /db_xref="HGNC:HGNC:2957"
                     /db_xref="MIM:300081"
                     /translation="MHYPTALLFLILANGAQAFRICAFNAQRLTLAKVAREQVMDTLV
                     RILARCDIMVLQEVVDSSGSAIPLLLRELNRFDGSGPYSTLSSPQLGRSTYMETYVYF
                     YRSHKTQVLSSYVYNDEDDVFAREPFVAQFSLPSNVLPSLVLVPLHTTPKAVEKELNA
                     LYDVFLEVSQHWQSKDVILLGDFNADCASLTKKRLDKLELRTEPGFHWVIADGEDTTV
                     RASTHCTYDRVVLHGERCRSLLHTAAAFDFPTSFQLTEEEALNISDHYPVEVELKLSQ
                     AHSVQPLSLTVLLLLSLLSPQLCPAA"
     exon            366..454
                     /gene="DNASE1L1"
                     /gene_synonym="DNAS1L1; DNASEX; DNL1L; G4.8; XIB"
                     /inference="alignment:Splign:2.1.0"
     exon            455..541
                     /gene="DNASE1L1"
                     /gene_synonym="DNAS1L1; DNASEX; DNL1L; G4.8; XIB"
                     /inference="alignment:Splign:2.1.0"
     exon            542..642
                     /gene="DNASE1L1"
                     /gene_synonym="DNAS1L1; DNASEX; DNL1L; G4.8; XIB"
                     /inference="alignment:Splign:2.1.0"
     exon            643..755
                     /gene="DNASE1L1"
                     /gene_synonym="DNAS1L1; DNASEX; DNL1L; G4.8; XIB"
                     /inference="alignment:Splign:2.1.0"
     exon            756..1004
                     /gene="DNASE1L1"
                     /gene_synonym="DNAS1L1; DNASEX; DNL1L; G4.8; XIB"
                     /inference="alignment:Splign:2.1.0"
     exon            1005..2610
                     /gene="DNASE1L1"
                     /gene_synonym="DNAS1L1; DNASEX; DNL1L; G4.8; XIB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2066..2071
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNASE1L1"
                     /gene_synonym="DNAS1L1; DNASEX; DNL1L; G4.8; XIB"
                     /note="hexamer: AATAAA"
     regulatory      2076..2081
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNASE1L1"
                     /gene_synonym="DNAS1L1; DNASEX; DNL1L; G4.8; XIB"
                     /note="hexamer: ATTAAA"
     polyA_site      2088
                     /gene="DNASE1L1"
                     /gene_synonym="DNAS1L1; DNASEX; DNL1L; G4.8; XIB"
                     /note="major polyA site"
     polyA_site      2092
                     /gene="DNASE1L1"
                     /gene_synonym="DNAS1L1; DNASEX; DNL1L; G4.8; XIB"
     regulatory      2578..2583
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNASE1L1"
                     /gene_synonym="DNAS1L1; DNASEX; DNL1L; G4.8; XIB"
                     /note="hexamer: AATAAA"
     polyA_site      2610
                     /gene="DNASE1L1"
                     /gene_synonym="DNAS1L1; DNASEX; DNL1L; G4.8; XIB"
ORIGIN      
        1 ccttcctggc cgggtggctc aggaacacag cctcttcctc ttttttttcc cctcctagcc
       61 ctattcaggc aggagctgct cttctggggt atcgcgatcc acttaaggat gaggcagact
      121 tggtgacaag ctggtctgag cagcgcttcc agagccagaa ctgagcccag tgagagcgca
      181 ccctggggca gcctggattc ctggggtgtc cccggcagcc acacacagcc atgcactacc
      241 caactgcact cctcttcctc atcctggcca atggggccca ggcctttcgc atctgcgcct
      301 tcaatgccca gcggctgaca ctggccaagg tggccaggga gcaggtgatg gacaccttag
      361 ttcggatact ggctcgctgt gacatcatgg tgctgcagga ggtggtggac tcttccggca
      421 gcgccatccc gctcctgctt cgagaactca atcgatttga tggctctggg ccctacagca
      481 ccctgagcag cccccagctg gggcgcagca cctacatgga gacgtatgtg tacttctatc
      541 ggtcacacaa aacacaggtc ctgagttcct acgtgtacaa cgatgaggat gacgtctttg
      601 cccgggagcc atttgtggcc cagttctctt tgcccagcaa tgtccttccc agcctggtgt
      661 tggtcccgct gcacaccact cctaaggccg tagagaagga gctgaacgcc ctctacgatg
      721 tgtttctgga ggtctcccag cactggcaga gcaaggacgt gatcctgctt ggggacttca
      781 atgctgactg cgcttcactg accaaaaagc gcctggacaa gctggagctg cggactgagc
      841 caggcttcca ctgggtgatt gccgatgggg aggacaccac agtgcgggcc agcacccact
      901 gcacctatga ccgcgtcgtg ctgcacgggg agcgctgccg gagtctgctg cacactgcgg
      961 ctgcctttga cttccccacg agcttccagc tcaccgagga ggaggccctc aacatcagtg
     1021 accactaccc cgtggaggtg gagctgaagc tgagccaggc gcacagcgtc cagcctctca
     1081 gcctcactgt tctgttgctg ctatcactcc tgtcccctca gctgtgccct gctgcctgag
     1141 cgtcccccta cccccccagg gcctgctgcc ttttgggact taaaccccag cctcccccgt
     1201 ccatccagcc ctggggctgg ggggcttcaa ctatagttgc cctgtgactg tagtccaccc
     1261 ctgcctgcct tgtttgattt ggctcttgtt ctttggttgg gcttgtgcct agattaggag
     1321 aggaagccag gggccctgca ctcatgccac ctgccaggta gtgtagtatc aggagtggag
     1381 acaaagtggg ctctgggttg gggtagggga agggagggtt cagaaagagg aatgaagatg
     1441 ttgtatgaca agaaggaaag ttactgagaa caaaaaccca gattggtgag ataggacact
     1501 tgtgcagcag atatgccaat gggccatgtt tattgtggat tggtaagaat caccaggaaa
     1561 ccattaagcc ccaatagcta caaggagggt ggttaatctg ctatatcaaa ctccttccct
     1621 gaaaccagca aacaccggga aacattttgg ctcattataa tccggtgaac aatgcagtca
     1681 ggcctgttat aaccgctgag cagccacact cgcacctcct gggtgctgta gtctgtgttg
     1741 gtacaggctt ctgcatgcct ggtaaagtcc agccaaggct ggtcaaggca acatctccac
     1801 acagaaaatc tgcaccagtt atgtaagcta aaaagctgtg tgaacccagg tgtcccggaa
     1861 aggggctgca ggacacagca aaatgccagc agcatgccgg acccctccct tccatcctcc
     1921 tctccaaaga agagaggtca ggaaaaacac tggctgggac gctagaaggg tcatgtgtta
     1981 actataatca catttatggt ttggaaccat caccccaagg taaaaaaaaa ataaaaggta
     2041 ttcccaggta tgtttggcaa aataaaataa aggtaattaa aaacctaaga aatggctgta
     2101 aactgagatt acaaaaaacc agaggccttt tgggagccac aggctggggg ctggggccaa
     2161 cataccccag ctctgggacc aaaagccttt ggagtcctgt ccctggatac agatgctcag
     2221 gccacccacc tagcactcct ctcatttttg ctgctccccc aaaagccagc gctgttctac
     2281 aatagttcag gtcagacatc taagatcccc aggccaaacc atgccacaca cgtgtctgtt
     2341 ccgaggtctt gttacaaatg accaaaggtt agcctagacc tttggtcagg tggtgaaggc
     2401 cctgggaatg caggttctag aaggggtggg ggcatggggc ccaggaggtt gctagagata
     2461 ggaaatgggg caaatcgcag gtgacctcag cagtacctgg atgattccca ccaaggagga
     2521 atggccaaac cagatgggtg agaacaagcc caatgtgatg cacacctacc cttgctaaat
     2581 aaacgctgct ggtcagcctc tagcccacaa
//
