LOCUS       NM_004259               3669 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens RecQ like helicase 5 (RECQL5), transcript variant 1,
            mRNA.
ACCESSION   NM_004259
VERSION     NM_004259.7
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 3669)
  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 3669)
  AUTHORS   Wang,J., Dong,Y., Ma,H., Wu,L., Zhen,X., Tang,L., Jin,J., Han,S.,
            Zhang,P. and Peng,J.
  TITLE     The deubiquitinase USP28 stabilizes the expression of RecQ family
            helicases and maintains the viability of triple negative breast
            cancer cells
  JOURNAL   J Biol Chem 298 (1), 101443 (2022)
   PUBMED   34822842
  REMARK    GeneRIF: The deubiquitinase USP28 stabilizes the expression of RecQ
            family helicases and maintains the viability of triple negative
            breast cancer cells.
REFERENCE   3  (bases 1 to 3669)
  AUTHORS   Das,T., Pal,S. and Ganguly,A.
  TITLE     Human RecQ helicases in transcription-associated stress management:
            bridging the gap between DNA and RNA metabolism
  JOURNAL   Biol Chem 402 (5), 617-636 (2021)
   PUBMED   33567180
  REMARK    GeneRIF: Human RecQ helicases in transcription-associated stress
            management: bridging the gap between DNA and RNA metabolism.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3669)
  AUTHORS   Elbakry,A., Juhasz,S., Chan,K.C. and Lobrich,M.
  TITLE     ATRX and RECQ5 define distinct homologous recombination subpathways
  JOURNAL   Proc Natl Acad Sci U S A 118 (3) (2021)
   PUBMED   33431668
  REMARK    GeneRIF: ATRX and RECQ5 define distinct homologous recombination
            subpathways.
REFERENCE   5  (bases 1 to 3669)
  AUTHORS   Xue,C., Molnarova,L., Steinfeld,J.B., Zhao,W., Ma,C., Spirek,M.,
            Kaniecki,K., Kwon,Y., Belan,O., Krejci,K., Boulton,S.J., Sung,P.,
            Greene,E.C. and Krejci,L.
  TITLE     Single-molecule visualization of human RECQ5 interactions with
            single-stranded DNA recombination intermediates
  JOURNAL   Nucleic Acids Res 49 (1), 285-305 (2021)
   PUBMED   33332547
  REMARK    GeneRIF: Single-molecule visualization of human RECQ5 interactions
            with single-stranded DNA recombination intermediates.
            Erratum:[Nucleic Acids Res. 2024 Jun 10;52(10):6093. doi:
            10.1093/nar/gkae352.. PMID: 38686812]
REFERENCE   6  (bases 1 to 3669)
  AUTHORS   Stelzl,U., Worm,U., Lalowski,M., Haenig,C., Brembeck,F.H.,
            Goehler,H., Stroedicke,M., Zenkner,M., Schoenherr,A., Koeppen,S.,
            Timm,J., Mintzlaff,S., Abraham,C., Bock,N., Kietzmann,S.,
            Goedde,A., Toksoz,E., Droege,A., Krobitsch,S., Korn,B.,
            Birchmeier,W., Lehrach,H. and Wanker,E.E.
  TITLE     A human protein-protein interaction network: a resource for
            annotating the proteome
  JOURNAL   Cell 122 (6), 957-968 (2005)
   PUBMED   16169070
REFERENCE   7  (bases 1 to 3669)
  AUTHORS   Garcia,P.L., Liu,Y., Jiricny,J., West,S.C. and Janscak,P.
  TITLE     Human RECQ5beta, a protein with DNA helicase and strand-annealing
            activities in a single polypeptide
  JOURNAL   EMBO J 23 (14), 2882-2891 (2004)
   PUBMED   15241474
  REMARK    GeneRIF: RECQ5 is a protein with DNA helicase and strand-annealing
            activities in a single polypeptide.
REFERENCE   8  (bases 1 to 3669)
  AUTHORS   Shimamoto,A., Nishikawa,K., Kitao,S. and Furuichi,Y.
  TITLE     Human RecQ5beta, a large isomer of RecQ5 DNA helicase, localizes in
            the nucleoplasm and interacts with topoisomerases 3alpha and 3beta
  JOURNAL   Nucleic Acids Res 28 (7), 1647-1655 (2000)
   PUBMED   10710432
REFERENCE   9  (bases 1 to 3669)
  AUTHORS   Sekelsky,J.J., Brodsky,M.H., Rubin,G.M. and Hawley,R.S.
  TITLE     Drosophila and human RecQ5 exist in different isoforms generated by
            alternative splicing
  JOURNAL   Nucleic Acids Res 27 (18), 3762-3769 (1999)
   PUBMED   10471747
REFERENCE   10 (bases 1 to 3669)
  AUTHORS   Kitao,S., Ohsugi,I., Ichikawa,K., Goto,M., Furuichi,Y. and
            Shimamoto,A.
  TITLE     Cloning of two new human helicase genes of the RecQ family:
            biological significance of multiple species in higher eukaryotes
  JOURNAL   Genomics 54 (3), 443-452 (1998)
   PUBMED   9878247
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC087749.12.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_004259.6.
            
            Summary: The protein encoded by this gene is a helicase that is
            important for genome stability. The encoded protein also prevents
            aberrant homologous recombination by displacing RAD51 from ssDNA.
            Three transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, Jul 2011].
            
            Transcript Variant: This variant (1) is also known as RecQ5-beta;
            it encodes the longest 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 :: SRR1803617.34216.1, AB042824.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000317905.10/ ENSP00000317636.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-111               AC087749.12        111530-111640       c
            112-255             AC087749.12        110914-111057       c
            256-377             AC087749.12        109537-109658       c
            378-896             AC087749.12        106965-107483       c
            897-999             AC087749.12        106092-106194       c
            1000-1111           AC087749.12        105441-105552       c
            1112-1274           AC087749.12        102784-102946       c
            1275-1354           AC087749.12        95672-95751         c
            1355-1573           AC087749.12        75936-76154         c
            1574-1673           AC087749.12        75636-75735         c
            1674-1710           AC087749.12        75460-75496         c
            1711-1769           AC087749.12        75265-75323         c
            1770-1843           AC087749.12        75105-75178         c
            1844-1937           AC087749.12        74670-74763         c
            1938-2072           AC087749.12        74194-74328         c
            2073-2614           AC087749.12        73420-73961         c
            2615-2705           AC087749.12        73158-73248         c
            2706-2930           AC087749.12        72704-72928         c
            2931-3000           AC087749.12        72109-72178         c
            3001-3669           AC087749.12        71340-72008         c
FEATURES             Location/Qualifiers
     source          1..3669
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.1"
     gene            1..3669
                     /gene="RECQL5"
                     /gene_synonym="RECQ5"
                     /note="RecQ like helicase 5"
                     /db_xref="GeneID:9400"
                     /db_xref="HGNC:HGNC:9950"
                     /db_xref="MIM:603781"
     exon            1..111
                     /gene="RECQL5"
                     /gene_synonym="RECQ5"
                     /inference="alignment:Splign:2.1.0"
     exon            112..255
                     /gene="RECQL5"
                     /gene_synonym="RECQ5"
                     /inference="alignment:Splign:2.1.0"
     CDS             126..3101
                     /gene="RECQL5"
                     /gene_synonym="RECQ5"
                     /EC_number="5.6.2.4"
                     /note="isoform 1 is encoded by transcript variant 1;
                     ATP-dependent DNA helicase Q5; DNA helicase, RecQ-like
                     type 5; RecQ protein-like 5; RecQ helicase-like 5; DNA
                     3'-5' helicase RecQ5"
                     /codon_start=1
                     /product="ATP-dependent DNA helicase Q5 isoform 1"
                     /protein_id="NP_004250.4"
                     /db_xref="CCDS:CCDS42380.1"
                     /db_xref="GeneID:9400"
                     /db_xref="HGNC:HGNC:9950"
                     /db_xref="MIM:603781"
                     /translation="MSSHHTTFPFDPERRVRSTLKKVFGFDSFKTPLQESATMAVVKG
                     NKDVFVCMPTGAGKSLCYQLPALLAKGITIVVSPLIALIQDQVDHLLTLKVRVSSLNS
                     KLSAQERKELLADLEREKPQTKILYITPEMAASSSFQPTLNSLVSRHLLSYLVVDEAH
                     CVSQWGHDFRPDYLRLGALRSRLGHAPCVALTATATPQVQEDVFAALHLKKPVAIFKT
                     PCFRANLFYDVQFKELISDPYGNLKDFCLKALGQEADKGLSGCGIVYCRTREACEQLA
                     IELSCRGVNAKAYHAGLKASERTLVQNDWMEEKVPVIVATISFGMGVDKANVRFVAHW
                     NIAKSMAGYYQESGRAGRDGKPSWCRLYYSRNDRDQVSFLIRKEVAKLQEKRGNKASD
                     KATIMAFDALVTFCEELGCRHAAIAKYFGDALPACAKGCDHCQNPTAVRRRLEALERS
                     SSWSKTCIGPSQGNGFDPELYEGGRKGYGDFSRYDEGSGGSGDEGRDEAHKREWNLFY
                     QKQMQLRKGKDPKIEEFVPPDENCPLKEASSRRIPRLTVKAREHCLRLLEEALSSNRQ
                     STRTADEADLRAKAVELEHETFRNAKVANLYKASVLKKVADIHRASKDGQPYDMGGSA
                     KSCSAQAEPPEPNEYDIPPASHVYSLKPKRVGAGFPKGSCPFQTATELMETTRIREQA
                     PQPERGGEHEPPSRPCGLLDEDGSEPLPGPRGEVPGGSAHYGGPSPEKKAKSSSGGSS
                     LAKGRASKKQQLLATAAHKDSQSIARFFCRRVESPALLASAPEAEGACPSCEGVQGPP
                     MAPEKYTGEEDGAGGHSPAPPQTEECLRERPSTCPPRDQGTPEVQPTPAKDTWKGKRP
                     RSQQENPESQPQKRPRPSAKPSVVAEVKGSVSASEQGTLNPTAQDPFQLSAPGVSLKE
                     AANVVVKCLTPFYKEGKFASKELFKGFARHLSHLLTQKTSPGRSVKEEAQNLIRHFFH
                     GRARCESEADWHGLCGPQR"
     exon            256..377
                     /gene="RECQL5"
                     /gene_synonym="RECQ5"
                     /inference="alignment:Splign:2.1.0"
     exon            378..896
                     /gene="RECQL5"
                     /gene_synonym="RECQ5"
                     /inference="alignment:Splign:2.1.0"
     exon            897..999
                     /gene="RECQL5"
                     /gene_synonym="RECQ5"
                     /inference="alignment:Splign:2.1.0"
     exon            1000..1111
                     /gene="RECQL5"
                     /gene_synonym="RECQ5"
                     /inference="alignment:Splign:2.1.0"
     exon            1112..1274
                     /gene="RECQL5"
                     /gene_synonym="RECQ5"
                     /inference="alignment:Splign:2.1.0"
     exon            1275..1354
                     /gene="RECQL5"
                     /gene_synonym="RECQ5"
                     /inference="alignment:Splign:2.1.0"
     exon            1355..1573
                     /gene="RECQL5"
                     /gene_synonym="RECQ5"
                     /inference="alignment:Splign:2.1.0"
     exon            1574..1673
                     /gene="RECQL5"
                     /gene_synonym="RECQ5"
                     /inference="alignment:Splign:2.1.0"
     exon            1674..1710
                     /gene="RECQL5"
                     /gene_synonym="RECQ5"
                     /inference="alignment:Splign:2.1.0"
     exon            1711..1769
                     /gene="RECQL5"
                     /gene_synonym="RECQ5"
                     /inference="alignment:Splign:2.1.0"
     exon            1770..1843
                     /gene="RECQL5"
                     /gene_synonym="RECQ5"
                     /inference="alignment:Splign:2.1.0"
     exon            1844..1937
                     /gene="RECQL5"
                     /gene_synonym="RECQ5"
                     /inference="alignment:Splign:2.1.0"
     exon            1938..2072
                     /gene="RECQL5"
                     /gene_synonym="RECQ5"
                     /inference="alignment:Splign:2.1.0"
     exon            2073..2614
                     /gene="RECQL5"
                     /gene_synonym="RECQ5"
                     /inference="alignment:Splign:2.1.0"
     exon            2615..2705
                     /gene="RECQL5"
                     /gene_synonym="RECQ5"
                     /inference="alignment:Splign:2.1.0"
     exon            2706..2930
                     /gene="RECQL5"
                     /gene_synonym="RECQ5"
                     /inference="alignment:Splign:2.1.0"
     exon            2931..3000
                     /gene="RECQL5"
                     /gene_synonym="RECQ5"
                     /inference="alignment:Splign:2.1.0"
     exon            3001..3669
                     /gene="RECQL5"
                     /gene_synonym="RECQ5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3629..3634
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RECQL5"
                     /gene_synonym="RECQ5"
                     /note="hexamer: AATAAA"
     polyA_site      3669
                     /gene="RECQL5"
                     /gene_synonym="RECQ5"
                     /note="major polyA site"
ORIGIN      
        1 gaattcccag cgctttggct tctctgagtt ggggttgtgt ataggggtct tcgaacagtt
       61 ccggaaccag ccagcagcct ttaattcttg ggcggaccac ggccggttct gtgttcttgg
      121 ctaagatgag cagccaccat accacctttc cttttgaccc tgagcggcga gtccggagta
      181 cgctgaagaa ggtctttggg tttgactctt ttaagacgcc tttacaggag agtgcgacca
      241 tggctgtagt aaaaggtaac aaggacgtct ttgtgtgcat gcccacaggg gcaggaaaat
      301 ccctatgcta tcagctccct gctctgttgg ccaaaggcat caccattgta gtctctcctc
      361 tcattgcttt gattcaggac caagtggacc acttgctaac cctaaaggta cgagtaagtt
      421 ccctgaactc gaagctctct gcacaggaaa ggaaggagct gcttgctgac ctggagcgag
      481 aaaagcccca gaccaagatt ctgtacatca ccccagagat ggcagcttca tcctccttcc
      541 agcccaccct gaactccctg gtgtcccgcc acctgctgtc ttacttggtg gtggatgaag
      601 ctcattgtgt ttcccaatgg gggcatgact ttcgtcctga ctacttgcgt ctgggtgccc
      661 tgcgctcccg cctgggacat gccccttgtg tggctctgac cgccacagcc accccacagg
      721 tccaagagga cgtgtttgct gccctgcacc tgaagaaacc agttgccatc ttcaagactc
      781 cctgcttccg ggccaacctc ttctatgatg tgcaattcaa ggaactgatt tctgatccct
      841 atgggaacct gaaggacttc tgccttaagg ctcttggaca ggaggctgat aaagggttat
      901 ctggctgcgg cattgtgtac tgcaggacta gagaggcttg tgaacagctg gccatagagc
      961 tcagctgcag gggtgtgaac gccaaggctt accatgcagg gctgaaggcc tctgaaagaa
     1021 cgctggtgca gaacgactgg atggaggaga aggtccctgt aattgttgca accattagtt
     1081 ttgggatggg agtggataaa gccaatgtca ggtttgtcgc ccattggaat attgccaagt
     1141 ctatggctgg gtactaccag gagtctggcc gggctggcag ggatgggaag ccttcctggt
     1201 gccgtctcta ttactccagg aatgaccggg accaagtcag cttcctgatc aggaaggaag
     1261 tagcaaaact ccaggaaaag agaggaaaca aagcatctga taaagccact atcatggcct
     1321 ttgatgccct ggtgaccttc tgtgaagaac tggggtgccg ccatgccgcc attgccaagt
     1381 acttcgggga tgcgctgcct gcctgcgcca aaggctgcga ccactgccag aaccccacgg
     1441 ccgtgcggag gcggctggag gccttggagc gcagcagcag ctggagcaag acctgcatcg
     1501 ggccctccca ggggaacggc tttgaccccg agctgtatga gggaggccgc aagggctacg
     1561 gggacttcag caggtatgac gaaggttctg gaggcagcgg ggatgaaggc agagatgagg
     1621 cccacaagcg ggagtggaac ctcttctatc agaagcagat gcagctgcgc aagggcaaag
     1681 accccaagat agaagaattt gtacccccag atgagaactg tcccctgaaa gaggcttcta
     1741 gcaggaggat ccccaggctg actgtgaagg cacgggagca ctgcctgcgg cttctggagg
     1801 aggcgctgag cagcaaccgc cagtcaacac gtaccgctga tgaagctgac ctccgggcca
     1861 aggccgtgga gctggaacat gagacattcc ggaacgccaa ggtggccaac ctctacaagg
     1921 ccagcgtgct gaagaaggtg gccgatatcc acagagcctc caaggatggg cagccctatg
     1981 acatgggagg cagtgccaag agctgcagtg cccaagctga gcccccggag cccaatgagt
     2041 atgacattcc accagcctcc catgtgtact cgctcaaacc caagcgggtg ggagctggtt
     2101 tccccaaagg ctcctgcccg ttccagacgg ccacggaact gatggagaca actcggatca
     2161 gggagcaagc cccccagccc gagcggggag gcgagcacga gcccccgagc cggccctgtg
     2221 gcctcctgga tgaggatggg agtgagcccc tccctgggcc cagaggggag gtccctggag
     2281 gcagcgctca ctatgggggg ccctcccctg agaagaaggc aaaaagttcc tctgggggca
     2341 gctcccttgc caagggccgg gctagcaaga aacagcagct cctagccaca gcggcccaca
     2401 aggattctca gagcatcgcc cgcttcttct gccgaagggt ggaaagccca gctctgctgg
     2461 catcagcccc agaggcagaa ggtgcctgcc cctcctgtga gggggttcag ggacccccga
     2521 tggccccaga gaagtacaca ggggaggaag atggagccgg gggacattcg cctgcccctc
     2581 cccagactga ggagtgcctc agggagaggc caagcacctg cccgcccaga gaccagggca
     2641 cccctgaagt ccagcccacc cctgcaaagg acacatggaa gggcaagcgg cctcgatccc
     2701 agcaggagaa cccagagagc cagcctcaga agaggccacg cccctcagcc aagccctccg
     2761 tcgtagctga ggtcaagggc agcgtctcgg ccagcgaaca gggcaccttg aatcccacgg
     2821 ctcaagaccc cttccagctc tccgctcctg gcgtctcctt gaaggaggct gcaaatgttg
     2881 tggtcaagtg cctcacccct ttctacaagg agggcaagtt tgcttccaag gagttgttta
     2941 aaggctttgc ccgccacctc tcacacttgc tgactcagaa gacctctcct ggaaggagcg
     3001 tgaaagaaga ggcccagaac ctcatcaggc acttcttcca tggccgggcc cggtgcgaga
     3061 gcgaagctga ctggcatggc ctgtgtggcc cccagagatg accaactgct ggctgggcag
     3121 ggcccgcgtc ctcccccaga ttctagcatg ggtcatcctg ggcctcacct gctgatgcca
     3181 gggccatcgt cttttctcag tccttctcct ttccaaccat acttggcttt ggggatgacc
     3241 ccagacaccc cctgaatcca ggtcagaggt cagcccacct ttctttctgc ttgcaaagcc
     3301 tatagaccct tctcagagcg gtcctcatgg ctgggttttc tgggacacat gtcgaggaca
     3361 gaaggtggag ggtggtggag ctgctgctgg aagaagggga aggaagagtg gcccctcccc
     3421 gagttctaag tcaggatgag gcccacctgt ccaaggtatc ggaacctacc caggggaccc
     3481 tcagatcctc cacccactcc cccatccatt acgatgccag cttccagcct tgcccaggtc
     3541 agagctgtgg cagaggagag gcagccaggc cctgttcctg ctcagctcct gctcaggaag
     3601 gccaggcctg acagatgttt gggagaggaa taaagttgtg ttgttgtggg gcatgcaggc
     3661 gtgcacaca
//
