LOCUS       NM_001350966            3714 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens DNA cross-link repair 1C (DCLRE1C), transcript variant
            k, mRNA.
ACCESSION   NM_001350966 XM_017016559
VERSION     NM_001350966.2
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 3714)
  AUTHORS   Cowan,M.J., Yu,J., Facchino,J., Fraser-Browne,C., Sanford,U.,
            Kawahara,M., Dara,J., Long-Boyle,J., Oh,J., Chan,W., Chag,S.,
            Broderick,L., Chellapandian,D., Decaluwe,H., Golski,C., Hu,D.,
            Kuo,C.Y., Miller,H.K., Petrovic,A., Currier,R., Hilton,J.F.,
            Punwani,D., Dvorak,C.C., Malech,H.L., McIvor,R.S. and Puck,J.M.
  TITLE     Lentiviral Gene Therapy for Artemis-Deficient SCID
  JOURNAL   N Engl J Med 387 (25), 2344-2355 (2022)
   PUBMED   36546626
  REMARK    GeneRIF: Lentiviral Gene Therapy for Artemis-Deficient SCID.
REFERENCE   2  (bases 1 to 3714)
  AUTHORS   Watanabe,G. and Lieber,M.R.
  TITLE     Dynamics of the Artemis and DNA-PKcs Complex in the Repair of
            Double-Strand Breaks
  JOURNAL   J Mol Biol 434 (23), 167858 (2022)
   PUBMED   36270581
  REMARK    GeneRIF: Dynamics of the Artemis and DNA-PKcs Complex in the Repair
            of Double-Strand Breaks.
            Review article
REFERENCE   3  (bases 1 to 3714)
  AUTHORS   Watanabe,G., Lieber,M.R. and Williams,D.R.
  TITLE     Structural analysis of the basal state of the Artemis:DNA-PKcs
            complex
  JOURNAL   Nucleic Acids Res 50 (13), 7697-7720 (2022)
   PUBMED   35801871
  REMARK    GeneRIF: Structural analysis of the basal state of the
            Artemis:DNA-PKcs complex.
REFERENCE   4  (bases 1 to 3714)
  AUTHORS   Hognon,C. and Monari,A.
  TITLE     Staring at the Naked Goddess: Unraveling the Structure and
            Reactivity of Artemis Endonuclease Interacting with a DNA Double
            Strand
  JOURNAL   Molecules 26 (13), 3986 (2021)
   PUBMED   34210101
  REMARK    GeneRIF: Staring at the Naked Goddess: Unraveling the Structure and
            Reactivity of Artemis Endonuclease Interacting with a DNA Double
            Strand.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3714)
  AUTHORS   Kurosawa,A. and Adachi,N.
  TITLE     Functions and regulation of Artemis: a goddess in the maintenance
            of genome integrity
  JOURNAL   J Radiat Res 51 (5), 503-509 (2010)
   PUBMED   20543526
  REMARK    Review article
REFERENCE   6  (bases 1 to 3714)
  AUTHORS   Li,L., Moshous,D., Zhou,Y., Wang,J., Xie,G., Salido,E., Hu,D., de
            Villartay,J.P. and Cowan,M.J.
  TITLE     A founder mutation in Artemis, an SNM1-like protein, causes SCID in
            Athabascan-speaking Native Americans
  JOURNAL   J Immunol 168 (12), 6323-6329 (2002)
   PUBMED   12055248
  REMARK    GeneRIF: A nonsense founder mutation discovered in exon 8 of
            Artemis results in the truncation of the deduced protein product
            and indicates that the SNM1-like gene (Artemis) is the gene
            responsible for SCID in Athabascan-speaking Native Americans.
REFERENCE   7  (bases 1 to 3714)
  AUTHORS   Ma,Y., Pannicke,U., Schwarz,K. and Lieber,M.R.
  TITLE     Hairpin opening and overhang processing by an Artemis/DNA-dependent
            protein kinase complex in nonhomologous end joining and V(D)J
            recombination
  JOURNAL   Cell 108 (6), 781-794 (2002)
   PUBMED   11955432
  REMARK    GeneRIF: DNA-PKcs regulates Artemis by both phosphorylation and
            complex formation to permit enzymatic activities that are critical
            for the hairpin-opening step of V(D)J recombination and for the 5'
            and 3' overhang processing in nonhomologous DNA end joining.
REFERENCE   8  (bases 1 to 3714)
  AUTHORS   Moshous,D., Callebaut,I., de Chasseval,R., Corneo,B.,
            Cavazzana-Calvo,M., Le Deist,F., Tezcan,I., Sanal,O., Bertrand,Y.,
            Philippe,N., Fischer,A. and de Villartay,J.P.
  TITLE     Artemis, a novel DNA double-strand break repair/V(D)J recombination
            protein, is mutated in human severe combined immune deficiency
  JOURNAL   Cell 105 (2), 177-186 (2001)
   PUBMED   11336668
REFERENCE   9  (bases 1 to 3714)
  AUTHORS   Li,L., Drayna,D., Hu,D., Hayward,A., Gahagan,S., Pabst,H. and
            Cowan,M.J.
  TITLE     The gene for severe combined immunodeficiency disease in
            Athabascan-speaking Native Americans is located on chromosome 10p
  JOURNAL   Am J Hum Genet 62 (1), 136-144 (1998)
   PUBMED   9443881
REFERENCE   10 (bases 1 to 3714)
  AUTHORS   Robertson,N.G., Khetarpal,U., Gutierrez-Espeleta,G.A., Bieber,F.R.
            and Morton,C.C.
  TITLE     Isolation of novel and known genes from a human fetal cochlear cDNA
            library using subtractive hybridization and differential screening
  JOURNAL   Genomics 23 (1), 42-50 (1994)
   PUBMED   7829101
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BQ932042.1, AJ296101.1,
            EL735962.1, AL360083.27, BC022254.1, AC069544.9 and BM987109.1.
            
            On May 31, 2019 this sequence version replaced NM_001350966.1.
            
            Summary: This gene encodes a nuclear protein that is involved in
            V(D)J recombination and DNA repair. The encoded protein has
            single-strand-specific 5'-3' exonuclease activity; it also exhibits
            endonuclease activity on 5' and 3' overhangs and hairpins. The
            protein also functions in the regulation of the cell cycle in
            response to DNA damage. Mutations in this gene can cause
            Athabascan-type severe combined immunodeficiency (SCIDA) and Omenn
            syndrome. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Jan 2014].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR1803614.174190.1,
                                           SRR1660807.28179.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-48                BQ932042.1         337-384
            49-195              AJ296101.1         1-147
            196-323             AJ296101.1         200-327
            324-906             EL735962.1         1-583
            907-1654            AJ296101.1         967-1714
            1655-1760           AL360083.27        9077-9182           c
            1761-2016           BC022254.1         1179-1434
            2017-2017           AC069544.9         212294-212294       c
            2018-2870           BC022254.1         1436-2288
            2871-3066           AC069544.9         211245-211440       c
            3067-3509           BM987109.1         18-460              c
            3510-3714           AC069544.9         210597-210801       c
FEATURES             Location/Qualifiers
     source          1..3714
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p13"
     gene            1..3714
                     /gene="DCLRE1C"
                     /gene_synonym="A-SCID; DCLREC1C; RS-SCID; SCIDA; SNM1C"
                     /note="DNA cross-link repair 1C"
                     /db_xref="GeneID:64421"
                     /db_xref="HGNC:HGNC:17642"
                     /db_xref="MIM:605988"
     exon            1..195
                     /gene="DCLRE1C"
                     /gene_synonym="A-SCID; DCLREC1C; RS-SCID; SCIDA; SNM1C"
                     /inference="alignment:Splign:2.1.0"
     exon            196..280
                     /gene="DCLRE1C"
                     /gene_synonym="A-SCID; DCLREC1C; RS-SCID; SCIDA; SNM1C"
                     /inference="alignment:Splign:2.1.0"
     exon            281..340
                     /gene="DCLRE1C"
                     /gene_synonym="A-SCID; DCLREC1C; RS-SCID; SCIDA; SNM1C"
                     /inference="alignment:Splign:2.1.0"
     CDS             324..1823
                     /gene="DCLRE1C"
                     /gene_synonym="A-SCID; DCLREC1C; RS-SCID; SCIDA; SNM1C"
                     /note="isoform e is encoded by transcript variant k; DNA
                     cross-link repair 1C (PSO2 homolog, S. cerevisiae); severe
                     combined immunodeficiency, type a (Athabascan); protein
                     artemis; SNM1 homolog C; SNM1-like protein"
                     /codon_start=1
                     /product="protein artemis isoform e"
                     /protein_id="NP_001337895.1"
                     /db_xref="CCDS:CCDS91216.1"
                     /db_xref="GeneID:64421"
                     /db_xref="HGNC:HGNC:17642"
                     /db_xref="MIM:605988"
                     /translation="MKHQERFLFQGNNGTVLYTGDFRLAQGEAARMELLHSGGRVKDI
                     QSVYLDTTFCDPRFYQIPSREECLSGVLELVRSWITRSPYHVVWLNCKAAYGYEYLFT
                     NLSEELGVQVHVNKLDMFRNMPEILHHLTTDRNTQIHACRHPKAEEYFQWSKLPCGIT
                     SRNRIPLHIISIKPSTMWFGERSRKTNVIVRTGESSYRACFSFHSSYSEIKDFLSYLC
                     PVNAYPNVIPVGTTMDKVVEILKPLCRSSQSTEPKYKPLGKLKRARTVHRDSEEEDDY
                     LFDDPLPIPLRHKVPYPETFHPEVFSMTAVSEKQPEKLRQTPGCCRAECMQSSRFTNF
                     VDCEESNSESEEEVGIPASLQGDLGSVLHLQKADGDVPQWEVFFKRNDEITDESLENF
                     PSSTVAGGSQSPKLFSDSDGESTHISSQNSSQSTHITEQGSQGWDSQSDTVLLSSQER
                     NSGDITSLDKADYRPTIKENIPASLMEQNGLTLSLRLECGGAIMTPCIL"
     exon            341..442
                     /gene="DCLRE1C"
                     /gene_synonym="A-SCID; DCLREC1C; RS-SCID; SCIDA; SNM1C"
                     /inference="alignment:Splign:2.1.0"
     exon            443..515
                     /gene="DCLRE1C"
                     /gene_synonym="A-SCID; DCLREC1C; RS-SCID; SCIDA; SNM1C"
                     /inference="alignment:Splign:2.1.0"
     exon            516..656
                     /gene="DCLRE1C"
                     /gene_synonym="A-SCID; DCLREC1C; RS-SCID; SCIDA; SNM1C"
                     /inference="alignment:Splign:2.1.0"
     exon            657..758
                     /gene="DCLRE1C"
                     /gene_synonym="A-SCID; DCLREC1C; RS-SCID; SCIDA; SNM1C"
                     /inference="alignment:Splign:2.1.0"
     exon            759..895
                     /gene="DCLRE1C"
                     /gene_synonym="A-SCID; DCLREC1C; RS-SCID; SCIDA; SNM1C"
                     /inference="alignment:Splign:2.1.0"
     exon            896..950
                     /gene="DCLRE1C"
                     /gene_synonym="A-SCID; DCLREC1C; RS-SCID; SCIDA; SNM1C"
                     /inference="alignment:Splign:2.1.0"
     exon            951..1039
                     /gene="DCLRE1C"
                     /gene_synonym="A-SCID; DCLREC1C; RS-SCID; SCIDA; SNM1C"
                     /inference="alignment:Splign:2.1.0"
     exon            1040..1134
                     /gene="DCLRE1C"
                     /gene_synonym="A-SCID; DCLREC1C; RS-SCID; SCIDA; SNM1C"
                     /inference="alignment:Splign:2.1.0"
     exon            1135..1760
                     /gene="DCLRE1C"
                     /gene_synonym="A-SCID; DCLREC1C; RS-SCID; SCIDA; SNM1C"
                     /inference="alignment:Splign:2.1.0"
     exon            1761..3714
                     /gene="DCLRE1C"
                     /gene_synonym="A-SCID; DCLREC1C; RS-SCID; SCIDA; SNM1C"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3196..3201
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DCLRE1C"
                     /gene_synonym="A-SCID; DCLREC1C; RS-SCID; SCIDA; SNM1C"
                     /note="hexamer: ATTAAA"
     polyA_site      3220
                     /gene="DCLRE1C"
                     /gene_synonym="A-SCID; DCLREC1C; RS-SCID; SCIDA; SNM1C"
                     /note="major polyA site"
     regulatory      3372..3377
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DCLRE1C"
                     /gene_synonym="A-SCID; DCLREC1C; RS-SCID; SCIDA; SNM1C"
                     /note="hexamer: TATAAA"
     polyA_site      3394
                     /gene="DCLRE1C"
                     /gene_synonym="A-SCID; DCLREC1C; RS-SCID; SCIDA; SNM1C"
     regulatory      3424..3429
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DCLRE1C"
                     /gene_synonym="A-SCID; DCLREC1C; RS-SCID; SCIDA; SNM1C"
                     /note="hexamer: AATAAA"
     polyA_site      3453
                     /gene="DCLRE1C"
                     /gene_synonym="A-SCID; DCLREC1C; RS-SCID; SCIDA; SNM1C"
     regulatory      3484..3489
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DCLRE1C"
                     /gene_synonym="A-SCID; DCLREC1C; RS-SCID; SCIDA; SNM1C"
                     /note="hexamer: GATAAA"
     polyA_site      3509
                     /gene="DCLRE1C"
                     /gene_synonym="A-SCID; DCLREC1C; RS-SCID; SCIDA; SNM1C"
ORIGIN      
        1 ggcttcccgg aagtggcggc gcggtcaggg ctggccttgg cttcagctgc ggttttgggg
       61 tcccggactc tgggatcggc ggcgctatga gttctttcga ggggcagatg gccgagtatc
      121 caactatctc catagaccgc ttcgataggg agaacctgag ggcccgcgcc tacttcctgt
      181 cccactgcca caaagcttga aggtttatct atactgttca cctgtgacta aggagttgtt
      241 gttaacgagc ccgaaataca gattttggaa gaaacgaatt atatctattg aaatcgagac
      301 tcctacccag atatctttag tggatgaagc atcaggagag gtttttattt cagggcaata
      361 atggaactgt cctgtacaca ggagacttca gattggcgca aggagaagct gctagaatgg
      421 agcttctgca ctccgggggc agagtcaaag acatccaaag tgtatatttg gatactacgt
      481 tctgtgatcc aagattttac caaattccaa gtcgggagga gtgtttaagt ggagtcttag
      541 agctggtccg aagctggatc actcggagcc cgtaccatgt tgtgtggctg aactgcaaag
      601 cggcttatgg ctatgaatat ctgttcacca accttagtga agaattagga gtccaggttc
      661 atgtgaataa gctagacatg tttaggaaca tgcctgagat ccttcatcat ctcacaacag
      721 accgcaacac tcagatccat gcatgccggc atcccaaggc agaggaatat tttcagtgga
      781 gcaaattacc ctgtggaatt acttccagaa atagaattcc actccacata atcagcatta
      841 agccatccac catgtggttt ggagaaagga gcagaaaaac aaatgtaatt gtgaggactg
      901 gagagagttc atacagagct tgtttttctt ttcactcctc ctacagtgag attaaagatt
      961 tcttgagcta cctctgtcct gtgaacgcat atccaaatgt cattccagtt ggcacaacta
     1021 tggataaagt tgtcgaaatc ttaaagcctt tatgccggtc ttcccaaagt acggagccaa
     1081 agtataaacc actgggaaaa ctgaagagag ctagaacagt tcaccgagac tcagaggagg
     1141 aagatgacta tctctttgat gatcctctgc caataccttt aaggcacaaa gttccatacc
     1201 cggaaacttt tcaccctgag gtattttcaa tgactgcagt atcagaaaag cagcctgaaa
     1261 aactgagaca aaccccagga tgctgcagag cagagtgtat gcagagctct cgtttcacaa
     1321 actttgtaga ttgtgaagaa tccaacagtg aaagtgaaga agaagtagga atcccagctt
     1381 cactgcaagg agatctgggc tctgtacttc acctgcaaaa ggctgatggg gatgtacccc
     1441 agtgggaagt attctttaaa agaaatgatg aaatcacaga tgagagtttg gaaaacttcc
     1501 cttcctccac agtggcaggg ggatctcagt caccaaagct tttcagtgac tctgatggag
     1561 aatcaactca catctcctcc cagaattctt cccagtcaac acacataaca gaacaaggaa
     1621 gtcaaggctg ggacagccaa tctgatactg ttttgttatc ttcccaagag agaaacagtg
     1681 gggatattac ttccttggac aaagctgact acagaccaac aatcaaagag aatattcctg
     1741 cctctctcat ggaacaaaat ggtctcactc tgtcactcag gctagaatgc ggtggtgcca
     1801 tcatgactcc ctgtatcctt taactcctgg gatcaagcga tcttcctgcc tcagcctcct
     1861 gactagctgg atcacaggtg cataccgcca tgcccagcta atgatttagt ttttatagag
     1921 atgtggggtc tcactatgtt gcccacactg gtctggaact cctgggctca agtgagcctc
     1981 cagccttgac ctccccaagt gctgggatta actgtaactg gttgatttat gactttttaa
     2041 acaggatttg agcagtacat tggaacactg cattactttc attataatta ggatgttcaa
     2101 aaagctatac aactatagct ctctacagga cacaactgaa tgttaaggac taaatctgca
     2161 agtatatgct ctaaatatga tccaggcaca tttttcctat aacttatata tatgcagtta
     2221 caaatggaaa attgttaaaa atacagggga gaagctatgt taactttgga atggaaggtt
     2281 ttgtttttgt agaatatgtt attttcatgc aattctgtaa gtctaagatc gtcatctaca
     2341 gttctgctct taagaacaca agttttatga cacgctcggc ttaagaaacc aaaagtgtct
     2401 aaagtacttt atgttaccaa ccaaatttgg ctgctgcact cattaagaat gcaacttaaa
     2461 aaattttggt taacaaaaag agtaatttga ttatacaaga tcttgtatac tgaataattt
     2521 ataataatct accactgtct aaaagtgtaa gaatcaaaac agccatctaa tttagtttca
     2581 gaattataga tgaatacaga taattatagg tgacccaatt ccaactaaaa aatccagagt
     2641 tgacaactcc agatatgtag ccatgcttgt gtctttctag tcacagctca acctaccctt
     2701 cagtttgaag cagtgtggtg ccatggtgaa gactactgat tttagagctt tgaatctcgg
     2761 ttcttattac tatgtgacct gtgtgacctt gggcaaggta ctcaatttct ctacaataat
     2821 ggacataaca gtactacttc tcaaaaaaaa aaaaaaaaaa aaaaaaaaaa gaaacagtac
     2881 tacctcactg agttttggag aggattagtg aattaataca tcaagtgctt agaatagtat
     2941 gtgacacacg gcaaatactt tttacattta tatatatata tacatatata tgatttgtat
     3001 acaaataaat ttgctagtat ttgtatggta gttttgagaa tggtcttcac agttcaaaag
     3061 taagttacag attatggatg caataaatgc ttgtgtatat tttacaaaac tcataaatat
     3121 agtatctttc atgttgatcc aaaatagagt tctgccaact acatttaatc atatttggtc
     3181 aaatagatga agtaaattaa aactttcaag tttcaaagca gcatgtgtta catctgagtt
     3241 tcttcttagg acttttgggt aaaaacagtt gtcatatttt aaattttaca aatcctaggt
     3301 ttgactagta ggaatgtgta tttgttgaaa gatgactata tcaatttgtt ttaacgtata
     3361 ttttttattc atataaaagt tttttatttc taaatatgcc agtgaactct tctcctaaat
     3421 ctgaataaat ttctacatat ctgcaaatga aaatatcaaa atgtaccaag tatctcttaa
     3481 agagataaaa aggtaatttt ccaaaagtat aaaccttgca tgtccatcat ttactacgtg
     3541 gcaaatgaaa catacctctc caacatattc catgacaaaa ctcattcttt taatcttcac
     3601 aagggtcttt acaccccagc cacgtccatt gctagttcga aagatgcaaa gcgaatactg
     3661 tgtgcctttt tgtacaatcc tattgggaca atcaggacca cactgacacc ttga
//
