LOCUS       NM_002907               3745 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens RecQ like helicase (RECQL), transcript variant 1,
            mRNA.
ACCESSION   NM_002907
VERSION     NM_002907.4
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 3745)
  AUTHORS   Silva,J.P.L., Donaires,F.S., Gutierrez-Rodrigues,F., Martins,D.J.,
            Carvalho,V.S., Santana,B.A., Cunha,R.L.G., Kajigaya,S.,
            Menck,C.F.M., Young,N.S., Kjeldsen,E. and Calado,R.T.
  TITLE     RecQ helicase expression in patients with telomeropathies
  JOURNAL   Mol Biol Rep 51 (1), 754 (2024)
   PUBMED   38874681
  REMARK    GeneRIF: RecQ helicase expression in patients with telomeropathies.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3745)
  AUTHORS   Debnath,S., Lu,X., Lal,A. and Sharma,S.
  TITLE     Genome-wide investigations on regulatory functions of RECQ1
            helicase
  JOURNAL   Methods 204, 263-268 (2022)
   PUBMED   35231585
  REMARK    GeneRIF: Genome-wide investigations on regulatory functions of
            RECQ1 helicase.
REFERENCE   3  (bases 1 to 3745)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   4  (bases 1 to 3745)
  AUTHORS   Abu-Libdeh,B., Jhujh,S.S., Dhar,S., Sommers,J.A., Datta,A.,
            Longo,G.M., Grange,L.J., Reynolds,J.J., Cooke,S.L., McNee,G.S.,
            Hollingworth,R., Woodward,B.L., Ganesh,A.N., Smerdon,S.J.,
            Nicolae,C.M., Durlacher-Betzer,K., Molho-Pessach,V., Abu-Libdeh,A.,
            Meiner,V., Moldovan,G.L., Roukos,V., Harel,T., Brosh,R.M. Jr. and
            Stewart,G.S.
  TITLE     RECON syndrome is a genome instability disorder caused by mutations
            in the DNA helicase RECQL1
  JOURNAL   J Clin Invest 132 (5) (2022)
   PUBMED   35025765
  REMARK    GeneRIF: RECON syndrome is a genome instability disorder caused by
            mutations in the DNA helicase RECQL1.
REFERENCE   5  (bases 1 to 3745)
  AUTHORS   Mukhopadhyay,S., Das,T., Bose,M., Jain,C.K., Chakraborty,M.,
            Mukherjee,S., Shikha,K., Das,A.K. and Ganguly,A.
  TITLE     Residues at the interface between zinc binding and winged helix
            domains of human RECQ1 play a significant role in DNA strand
            annealing activity
  JOURNAL   Nucleic Acids Res 49 (20), 11834-11854 (2021)
   PUBMED   34751402
  REMARK    GeneRIF: Residues at the interface between zinc binding and winged
            helix domains of human RECQ1 play a significant role in DNA strand
            annealing activity.
REFERENCE   6  (bases 1 to 3745)
  AUTHORS   Seki,T., Tada,S., Katada,T. and Enomoto,T.
  TITLE     Cloning of a cDNA encoding a novel importin-alpha homologue, Qip1:
            discrimination of Qip1 and Rch1 from hSrp1 by their ability to
            interact with DNA helicase Q1/RecQL
  JOURNAL   Biochem Biophys Res Commun 234 (1), 48-53 (1997)
   PUBMED   9168958
REFERENCE   7  (bases 1 to 3745)
  AUTHORS   Puranam,K.L., Kennington,E., Sait,S.N., Shows,T.B., Rochelle,J.M.,
            Seldin,M.F. and Blackshear,P.J.
  TITLE     Chromosomal localization of the gene encoding the human DNA
            helicase RECQL and its mouse homologue
  JOURNAL   Genomics 26 (3), 595-598 (1995)
   PUBMED   7607686
REFERENCE   8  (bases 1 to 3745)
  AUTHORS   Puranam,K.L. and Blackshear,P.J.
  TITLE     Cloning and characterization of RECQL, a potential human homologue
            of the Escherichia coli DNA helicase RecQ
  JOURNAL   J Biol Chem 269 (47), 29838-29845 (1994)
   PUBMED   7961977
REFERENCE   9  (bases 1 to 3745)
  AUTHORS   Seki,M., Miyazawa,H., Tada,S., Yanagisawa,J., Yamaoka,T.,
            Hoshino,S., Ozawa,K., Eki,T., Nogami,M., Okumura,K. et al.
  TITLE     Molecular cloning of cDNA encoding human DNA helicase Q1 which has
            homology to Escherichia coli Rec Q helicase and localization of the
            gene at chromosome 12p12
  JOURNAL   Nucleic Acids Res 22 (22), 4566-4573 (1994)
   PUBMED   7527136
REFERENCE   10 (bases 1 to 3745)
  AUTHORS   Seki,M., Yanagisawa,J., Kohda,T., Sonoyama,T., Ui,M. and Enomoto,T.
  TITLE     Purification of two DNA-dependent adenosinetriphosphatases having
            DNA helicase activity from HeLa cells and comparison of the
            properties of the two enzymes
  JOURNAL   J Biochem 115 (3), 523-531 (1994)
   PUBMED   8056767
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA547846.1, CN414472.1,
            AK291627.1, D37984.1, CX784110.1, T94514.1 and CA431135.1.
            
            On Nov 23, 2018 this sequence version replaced NM_002907.3.
            
            Summary: The protein encoded by this gene is a member of the RecQ
            DNA helicase family. DNA helicases are enzymes involved in various
            types of DNA repair, including mismatch repair, nucleotide excision
            repair and direct repair. The encoded protein is involved in the
            processing of Holliday junctions, the suppression of sister
            chromatid exchanges, telomere maintenance, and is required for
            genotoxic stress resistance. Defects in this gene have been
            associated with several types of cancer. [provided by RefSeq, Jan
            2017].
            
            Transcript Variant: This variant (1) represents the longer
            transcript. 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 :: SRR1803614.111623.1,
                                           SRR1660805.238344.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000444129.7/ ENSP00000416739.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-28                DA547846.1         35-62
            29-163              CN414472.1         3-137
            164-2241            AK291627.1         122-2199
            2242-2466           D37984.1           1731-1955
            2467-2900           CX784110.1         229-662
            2901-3107           T94514.1           22-228
            3108-3745           CA431135.1         17-654              c
FEATURES             Location/Qualifiers
     source          1..3745
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p12.1"
     gene            1..3745
                     /gene="RECQL"
                     /gene_synonym="RECON; RecQ1; RECQL1"
                     /note="RecQ like helicase"
                     /db_xref="GeneID:5965"
                     /db_xref="HGNC:HGNC:9948"
                     /db_xref="MIM:600537"
     exon            1..466
                     /gene="RECQL"
                     /gene_synonym="RECON; RecQ1; RECQL1"
                     /inference="alignment:Splign:2.1.0"
     exon            467..527
                     /gene="RECQL"
                     /gene_synonym="RECON; RecQ1; RECQL1"
                     /inference="alignment:Splign:2.1.0"
     CDS             512..2461
                     /gene="RECQL"
                     /gene_synonym="RECON; RecQ1; RECQL1"
                     /EC_number="5.6.2.4"
                     /note="recQ protein-like 1; RecQ helicase-like;
                     DNA-dependent ATPase Q1; RecQ protein-like (DNA helicase
                     Q1-like); DNA helicase, RecQ-like type 1; DNA 3'-5'
                     helicase Q1"
                     /codon_start=1
                     /product="ATP-dependent DNA helicase Q1"
                     /protein_id="NP_002898.2"
                     /db_xref="CCDS:CCDS31756.1"
                     /db_xref="GeneID:5965"
                     /db_xref="HGNC:HGNC:9948"
                     /db_xref="MIM:600537"
                     /translation="MASVSALTEELDSITSELHAVEIQIQELTERQQELIQKKKVLTK
                     KIKQCLEDSDAGASNEYDSSPAAWNKEDFPWSGKVKDILQNVFKLEKFRPLQLETINV
                     TMAGKEVFLVMPTGGGKSLCYQLPALCSDGFTLVICPLISLMEDQLMVLKQLGISATM
                     LNASSSKEHVKWVHAEMVNKNSELKLIYVTPEKIAKSKMFMSRLEKAYEARRFTRIAV
                     DEVHCCSQWGHDFRPDYKALGILKRQFPNASLIGLTATATNHVLTDAQKILCIEKCFT
                     FTASFNRPNLYYEVRQKPSNTEDFIEDIVKLINGRYKGQSGIIYCFSQKDSEQVTVSL
                     QNLGIHAGAYHANLEPEDKTTVHRKWSANEIQVVVATVAFGMGIDKPDVRFVIHHSMS
                     KSMENYYQESGRAGRDDMKADCILYYGFGDIFRISSMVVMENVGQQKLYEMVSYCQNI
                     SKCRRVLMAQHFDEVWNSEACNKMCDNCCKDSAFERKNITEYCRDLIKILKQAEELNE
                     KLTPLKLIDSWMGKGAAKLRVAGVVAPTLPREDLEKIIAHFLIQQYLKEDYSFTAYAT
                     ISYLKIGPKANLLNNEAHAITMQVTKSTQNSFRAESSQTCHSEQGDKKMEEKNSGNFQ
                     KKAANMLQQSGSKNTGAKKRKIDDA"
     exon            528..725
                     /gene="RECQL"
                     /gene_synonym="RECON; RecQ1; RECQL1"
                     /inference="alignment:Splign:2.1.0"
     exon            726..905
                     /gene="RECQL"
                     /gene_synonym="RECON; RecQ1; RECQL1"
                     /inference="alignment:Splign:2.1.0"
     exon            906..1012
                     /gene="RECQL"
                     /gene_synonym="RECON; RecQ1; RECQL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1013..1211
                     /gene="RECQL"
                     /gene_synonym="RECON; RecQ1; RECQL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1212..1378
                     /gene="RECQL"
                     /gene_synonym="RECON; RecQ1; RECQL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1379..1460
                     /gene="RECQL"
                     /gene_synonym="RECON; RecQ1; RECQL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1461..1609
                     /gene="RECQL"
                     /gene_synonym="RECON; RecQ1; RECQL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1610..1727
                     /gene="RECQL"
                     /gene_synonym="RECON; RecQ1; RECQL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1728..1866
                     /gene="RECQL"
                     /gene_synonym="RECON; RecQ1; RECQL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1867..1958
                     /gene="RECQL"
                     /gene_synonym="RECON; RecQ1; RECQL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1959..2178
                     /gene="RECQL"
                     /gene_synonym="RECON; RecQ1; RECQL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2179..2308
                     /gene="RECQL"
                     /gene_synonym="RECON; RecQ1; RECQL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2309..3745
                     /gene="RECQL"
                     /gene_synonym="RECON; RecQ1; RECQL1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2485..2490
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RECQL"
                     /gene_synonym="RECON; RecQ1; RECQL1"
                     /note="hexamer: ATTAAA"
     polyA_site      2507
                     /gene="RECQL"
                     /gene_synonym="RECON; RecQ1; RECQL1"
                     /note="major polyA site"
     regulatory      3718..3723
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RECQL"
                     /gene_synonym="RECON; RecQ1; RECQL1"
                     /note="hexamer: AATAAA"
     polyA_site      3745
                     /gene="RECQL"
                     /gene_synonym="RECON; RecQ1; RECQL1"
ORIGIN      
        1 gtggatgctc tcagctggct ggcgggaaga ttttactccc gagtagcgga aagatctgct
       61 cgaggcctgg gtgctttggt gtcggagatc cgagagtcgg agatcggaga gtcggacaca
      121 ggacagtcgg acaccggaca gtcaaacacc ggagagttag accgggcttc tcggtgggga
      181 gaggctctgg gataactact gttacagctt tgaagggtca agggtgtgcg ctttttgttt
      241 catccttccc tttcctgctg cagggcgagg ccggtctgta gcggatcact tcctttcgcc
      301 cacacattgg cggaggagaa accggaaagt taatcactgc cctgctctga gaactcgggc
      361 ctttaggggc acgttcgcct gctgaccggt cttctgatct ccccattctt ttccatgcag
      421 gaggattggc caccaaagcc tgtttattag cagctgccat ttgttgaaag aaatttggat
      481 tattttagaa acaaatttgg aaagaaaaag aatggcgtcc gtttcagctc taactgagga
      541 actggattct ataaccagtg agctacatgc agtagaaatt caaattcaag aacttacgga
      601 aaggcaacaa gagcttattc agaaaaaaaa agtcctgaca aagaaaataa agcagtgttt
      661 agaggattct gatgccgggg caagcaatga atatgattct tcacctgccg cttggaataa
      721 agaagatttt ccatggtctg gtaaagttaa agatattctg caaaatgtct ttaaactgga
      781 aaagttcaga ccacttcagc ttgaaactat taacgtaaca atggctggaa aggaggtatt
      841 tcttgttatg cctacaggag gtggaaagag cttatgttac cagttaccag cattatgttc
      901 agatggtttt acactcgtca tttgcccatt gatctctctt atggaagacc aattaatggt
      961 tttaaaacaa ttaggaattt cagcaaccat gttaaatgct tctagttcta aggagcatgt
     1021 taaatgggtt catgctgaaa tggtaaataa aaactccgag ttaaagctga tttatgtgac
     1081 tccagagaaa attgcaaaaa gcaaaatgtt tatgtcaaga ctagagaaag cctatgaagc
     1141 aaggagattt actcgaattg ctgtggatga agttcactgc tgtagtcagt ggggacatga
     1201 tttcagacct gattataagg cacttggtat cttaaagcgg cagttcccta acgcatcact
     1261 aattgggctg actgcaactg caacaaatca cgttttgacg gatgctcaga aaattttgtg
     1321 cattgaaaag tgttttactt ttacagcttc ttttaatagg ccaaatctat attatgaggt
     1381 tcggcagaag ccctcaaaca ctgaagattt tattgaggat attgtaaagc tcattaatgg
     1441 gagatacaaa gggcaatcag gaatcatata ttgtttttct cagaaagact ctgaacaagt
     1501 tacggttagt ttgcagaatc tgggaattca tgcaggtgct taccatgcca atttggagcc
     1561 agaagataag accacagttc atagaaaatg gtcagccaat gaaattcagg tagtagtggc
     1621 aactgttgca tttggtatgg gaattgataa gccagatgtg aggtttgtta tccatcattc
     1681 aatgagtaaa tccatggaaa attattacca agagagtgga cgtgcaggtc gagatgacat
     1741 gaaagcagac tgtattttgt actacggctt tggagatata ttcagaataa gttcaatggt
     1801 ggtgatggaa aatgtgggac agcagaagct ttatgagatg gtatcatact gtcaaaacat
     1861 aagcaaatgt cgtcgtgtgt tgatggctca acattttgat gaagtatgga actcagaagc
     1921 atgtaacaaa atgtgcgata actgctgtaa agacagtgca tttgaaagaa agaacataac
     1981 agagtactgc agagatctaa tcaagatcct gaagcaggca gaggaactga atgaaaaact
     2041 cactccattg aaactgattg attcttggat gggaaagggt gcagcaaaac tgagagtagc
     2101 aggtgttgtg gctcccacac ttcctcgtga agatctggag aagattattg cacactttct
     2161 aatacagcag tatcttaaag aagactacag ttttacagct tatgctacca tttcgtattt
     2221 gaaaatagga cctaaagcta atcttctgaa caatgaggca catgctatta ctatgcaagt
     2281 gacaaagtcc acgcagaact ctttcagggc tgaatcgtct caaacttgtc attctgaaca
     2341 aggtgataaa aagatggagg aaaaaaattc aggcaacttc cagaagaagg ctgcaaacat
     2401 gcttcagcaa tctggttcta agaatacagg agctaagaaa agaaaaatcg atgatgcctg
     2461 atatgaatgt tactaaattt tctaattaaa gatggtttat gcatgtatat gccattattt
     2521 ttgtagttag acaatagttt ttaaaagaat ttcatagata ttttatatgt atggatctat
     2581 attttcagag cttatctctg aagatctaaa cttttgagaa tgtttgaaaa ttagagatca
     2641 tgaattatat aattttccag tataaaacaa gggaaaaatt tttatgtaaa accctttaaa
     2701 tgtaaaatat ttgagaataa gttcatacaa tcgtcttaag ttttttatgc ctttatatac
     2761 ttagctatat tttttctttt gacataacta tctttttgaa agcaatatta tactgacaga
     2821 ggctcactga gtgatacttt aagttaaata tgtagatcaa ggatgtccaa tcttttggct
     2881 tccctgagcc acattggaag aagaattgtc ttgggccgca cataaaatat gctaacactg
     2941 atgatagctg atgagcttaa aaaaaaaatt gcaagaaaaa tctcatgttt taagaaagtt
     3001 tacaaaaaat gtaaaatatt tgagaataag ttcatgtaat tgtcttaagt tttttatgcc
     3061 tttatatact tagctatatt ttttcttttg acataaccat ctttttgaaa gcaatattat
     3121 actgacagag gttcactgag tgatacttta agttaaatat gtagatcagg gatgtccaat
     3181 cttttggctt ccctgagcca cattggaaga agaattgtct tgggccgcac ataaaatatg
     3241 ctaacactga cgatagctga tgagcttaaa aaaaaaaaaa ttgcaagaaa aatctcatgt
     3301 tttaagaaag tttacagatt tgtgttgggc tgcattcaaa gctgttctgg gctgcattag
     3361 acccgtgggc tagagttgga caagcttgta gatgatttca ggttataaaa ccagaagtac
     3421 aattcaacaa aaaaggagta agtcatcaat ataaatatta gcaaacgaga tattgctaca
     3481 tctctattta aagtaaaata caaccgattt taaagttcct gaaaccatag ccatattttg
     3541 acatttcaca aagaatggtt ctagtctact agagtacatt tggctaagta gataacttac
     3601 ctaaatttgc tccaaagcta aatcacaagt aaacatattt atgtttaaaa cacagaaata
     3661 aataacttaa gatttttatc taagcggtca gtgttgtatt ggaaagatat atctataaat
     3721 aaactttgaa ctgatttcaa actta
//
