LOCUS       NM_001413023            3959 bp    mRNA    linear   PRI 15-OCT-2024
DEFINITION  Homo sapiens RecQ like helicase 4 (RECQL4), transcript variant 8,
            mRNA.
ACCESSION   NM_001413023
VERSION     NM_001413023.1
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 3959)
  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 3959)
  AUTHORS   Padayachy,L., Ntallis,S.G. and Halazonetis,T.D.
  TITLE     RECQL4 is not critical for firing of human DNA replication origins
  JOURNAL   Sci Rep 14 (1), 7708 (2024)
   PUBMED   38565932
  REMARK    GeneRIF: RECQL4 is not critical for firing of human DNA replication
            origins.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3959)
  AUTHORS   Papageorgiou,A.C., Pospisilova,M., Cibulka,J., Ashraf,R.,
            Waudby,C.A., Kaderavek,P., Maroz,V., Kubicek,K., Prokop,Z.,
            Krejci,L. and Tripsianes,K.
  TITLE     Recognition and coacervation of G-quadruplexes by a multifunctional
            disordered region in RECQ4 helicase
  JOURNAL   Nat Commun 14 (1), 6751 (2023)
   PUBMED   37875529
  REMARK    GeneRIF: Recognition and coacervation of G-quadruplexes by a
            multifunctional disordered region in RECQ4 helicase.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3959)
  AUTHORS   Sun,N., Shen,J., Shi,Y., Liu,B., Gao,S., Chen,Y. and Sun,J.
  TITLE     TRIM58 functions as a tumor suppressor in colorectal cancer by
            promoting RECQL4 ubiquitination to inhibit the AKT signaling
            pathway
  JOURNAL   World J Surg Oncol 21 (1), 231 (2023)
   PUBMED   37516854
  REMARK    GeneRIF: TRIM58 functions as a tumor suppressor in colorectal
            cancer by promoting RECQL4 ubiquitination to inhibit the AKT
            signaling pathway.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3959)
  AUTHORS   Kitao,S., Lindor,N.M., Shiratori,M., Furuichi,Y. and Shimamoto,A.
  TITLE     Rothmund-thomson syndrome responsible gene, RECQL4: genomic
            structure and products
  JOURNAL   Genomics 61 (3), 268-276 (1999)
   PUBMED   10552928
REFERENCE   6  (bases 1 to 3959)
  AUTHORS   Kitao,S., Shimamoto,A., Goto,M., Miller,R.W., Smithson,W.A.,
            Lindor,N.M. and Furuichi,Y.
  TITLE     Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson
            syndrome
  JOURNAL   Nat Genet 22 (1), 82-84 (1999)
   PUBMED   10319867
REFERENCE   7  (bases 1 to 3959)
  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
REFERENCE   8  (bases 1 to 3959)
  AUTHORS   Wang,L.L. and Plon,S.E.
  TITLE     Rothmund-Thomson Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301415
REFERENCE   9  (bases 1 to 3959)
  AUTHORS   Van Maldergem,L., Piard,J., Larizza,L. and Wang,L.L.
  TITLE     Baller-Gerold Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301383
REFERENCE   10 (bases 1 to 3959)
  AUTHORS   Soukup,T.
  TITLE     Intrafusal fibre types in rat limb muscle spindles: morphological
            and histochemical characteristics
  JOURNAL   Histochemistry 47 (1), 43-57 (1976)
   PUBMED   133085
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC084125.9 and KF495717.1.
            
            Summary: The protein encoded by this gene is a DNA helicase that
            belongs to the RecQ helicase family. DNA helicases unwind
            double-stranded DNA into single-stranded DNAs and may modulate
            chromosome segregation. This gene is predominantly expressed in
            thymus and testis. Mutations in this gene are associated with
            Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [provided
            by RefSeq, Jan 2010].
            
            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 :: SRR14038194.3337175.1,
                                           SRR14038191.2101986.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-232               AC084125.9         110918-111149
            233-327             AC084125.9         111243-111337
            328-468             AC084125.9         111561-111701
            469-1245            AC084125.9         111987-112763
            1246-1372           AC084125.9         112861-112987
            1373-1504           AC084125.9         113294-113425
            1505-1597           AC084125.9         113509-113601
            1598-1734           AC084125.9         113679-113815
            1735-1818           AC084125.9         114226-114309
            1819-1992           AC084125.9         114389-114562
            1993-2172           AC084125.9         114644-114823
            2173-2314           AC084125.9         115039-115180
            2315-2328           AC084125.9         115271-115284
            2329-2414           KF495717.1         1-86                c
            2415-2577           AC084125.9         115372-115534
            2578-3074           AC084125.9         115614-116110
            3075-3244           AC084125.9         116191-116360
            3245-3425           AC084125.9         116428-116608
            3426-3582           AC084125.9         116685-116841
            3583-3691           AC084125.9         116963-117071
            3692-3959           AC084125.9         117197-117464
FEATURES             Location/Qualifiers
     source          1..3959
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.3"
     gene            1..3959
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /note="RecQ like helicase 4"
                     /db_xref="GeneID:9401"
                     /db_xref="HGNC:HGNC:9949"
                     /db_xref="MIM:603780"
     exon            1..232
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            233..327
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            328..468
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            469..1245
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /inference="alignment:Splign:2.1.0"
     CDS             1186..3816
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /EC_number="5.6.2.4"
                     /note="isoform 7 is encoded by transcript variant 8;
                     ATP-dependent DNA helicase Q4; DNA helicase, RecQ-like,
                     type 4; RecQ protein-like 4; RecQ helicase-like 4; DNA
                     3'-5' helicase RecQ4"
                     /codon_start=1
                     /product="ATP-dependent DNA helicase Q4 isoform 7"
                     /protein_id="NP_001399952.1"
                     /db_xref="GeneID:9401"
                     /db_xref="HGNC:HGNC:9949"
                     /db_xref="MIM:603780"
                     /translation="MKQKHYVRGRALRSRLLRKQAWKQKWRKKGECFGGGGATVTTKE
                     SCFLNEQFDHWAAQCPRPASEEDTDAVGPEPLVPSPQPVPEVPSLDPTVLPLYSLGPS
                     GQLAETPAEVFQALEQLGHQAFRPGQERAVMRILSGISTLLVLPTGAGKSLCYQLPAL
                     LYSRRSPCLTLVVSPLLSLMDDQVSGLPPCLKAACIHSGMTRKQRESVLQKIRAAQVH
                     VLMLTPEALVGAGGLPPAAQLPPVAFACIDEAHCLSQWSHNFRPCYLRVCKVLRERMG
                     VHCFLGLTATATRRTASDVAQHLAVAEEPDLHGPAPVPTNLHLSVSMDRDTDQALLTL
                     LQGKRFQNLDSIIIYCNRREDTERIAALLRTCLHAAWVPGSGGRAPKTTAEAYHAGMC
                     SRERRRVQRAFMQGQLRVVVATVAFGMGLDRPDVRAVLHLGLPPSFESYVQAVGRAGR
                     DGQPAHCHLFLQPQGEDLRELRRHVHADSTDFLAVKRLVQRVFPACTCTCTRPPSEQE
                     GAVGGERPVPKYPPQEAEQLSHQAAPGPRRVCMGHERALPIQLTVQALDMPEEGEEPG
                     VSHRGVEGLSPRPLSPALPPAIETLLCYLELHPHHWLELLATTYTHCRLNCPGGPAQL
                     QALAHRCPPLAVCLAQQLPEDPGQGSSSVEFDMVKLVDSMGWELASVRRALCQLQWDH
                     EPRTGVRRGTGVLVEFSELAFHLRSPGDLTAEEKDQICDFLYGRVQARERQALARLRR
                     TFQAFHSVAFPSCGPCLEQQDEERSTRLKDLLGRYFEEEEGQEPGGMEDAQGPEPGQA
                     RLQDWEDQVRCDIRQFLSLRPEEKFSSRAVARIFHGIGSPCYPAQVYGQDRRFWRKYL
                     HLSFHALVGLATEELLQVAR"
     exon            1246..1372
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            1373..1504
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            1505..1597
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            1598..1734
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            1735..1818
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            1819..1992
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            1993..2172
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            2173..2314
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            2315..2577
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            2578..3074
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            3075..3244
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            3245..3425
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            3426..3582
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            3583..3691
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            3692..3959
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3934..3939
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /note="hexamer: AATAAA"
     polyA_site      3959
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /note="major polyA site"
ORIGIN      
        1 agattcgctg gacgatcgca agcgcggagg ccgggcgggc gcgcgcgcca tggagcggct
       61 gcgggacgtg cgggagcggc tgcaggcgtg ggagcgcgcg ttccgacggc agcgcgggcg
      121 gcgaccgagc caggtgcggg ctgcccaggg gccgaggggc tgagggcgcg gcccgcggct
      181 gacgcgttcc ctttacagga cgacgtggag gcggcgccgg aggagacccg cgcgctctac
      241 cgggaatacc gcactctgaa gcgtaccacg ggccaggccg gcggcgggct ccgcagctcc
      301 gagtcgctcc ccgcggcggc cgaagaggcg ccagagcccc gctgctgggg gccccatctg
      361 aatcgggctg cgaccaagag tccacagtct acgccagggc ggagccgcca gggctcggtg
      421 ccggactacg ggcagcggct caaggccaat ctgaaaggca ccctgcaggc cggaccagcc
      481 ctgggccgca gaccgtggcc tctaggaaga gcctcatcta aggcatccac cccaaagccc
      541 ccaggtacag ggcctgtccc ctcctttgca gaaaaagtca gtgatgagcc tccacagctc
      601 cctgagcccc agccaaggcc aggccggctc cagcatctgc aggcatccct gagccagcgg
      661 ctgggctccc tagatcctgg ctggttacag cgatgtcaca gtgaggtccc agattttctg
      721 ggggccccca aagcctgcag gcctgatcta ggctcagagg aatcacaact tctgatccct
      781 ggtgagtcgg ctgtccttgg tcctggtgct ggctcccagg gcccagaggc ttcagccttc
      841 caagaagtca gcatccgtgt ggggagcccc cagcccagca gcagtggagg cgagaagcgg
      901 agatggaacg aggagccctg ggagagcccc gcacaggtcc agcaggagag cagccaagct
      961 ggacccccat cggagggggc tggggctgta gcagttgagg aagaccctcc aggggaacct
     1021 gtacaggcac agccacctca gccctgcagc agcccatcga accccaggta ccacggactc
     1081 agcccctcca gtcaagctag ggctgggaag gctgagggca cagcccccct gcacatcttc
     1141 cctcggctgg cccgccatga caggggcaat tacgtacggc tcaacatgaa gcagaaacac
     1201 tacgtgcggg gccgggcact ccgtagcagg ctcctccgca agcaggcatg gaagcagaag
     1261 tggcggaaga aaggggagtg ttttgggggt ggtggtgcca cagtcacaac caaggagtct
     1321 tgtttcctga acgagcagtt cgatcactgg gcagcccagt gtccccggcc agcaagtgag
     1381 gaagacacag atgctgttgg gcctgagcca ctggttcctt caccacaacc tgtacctgag
     1441 gtgcccagcc tggaccccac cgtgctgcca ctctactccc tggggccctc agggcagttg
     1501 gcagagacgc cggctgaggt gttccaggcc ctggagcagc tggggcacca agcctttcgc
     1561 cctgggcagg agcgtgcagt catgcggatc ctgtctggca tctccacgct gctggtgctg
     1621 cctacaggtg ccggcaagtc cctgtgctac cagctcccag cgctgctcta cagccggcgc
     1681 agcccctgcc tcacgttggt cgtctctccc ctgctgtcac tcatggatga ccaggtgtct
     1741 ggcctgccac cgtgtctcaa ggcggcctgc atacactcgg gcatgaccag gaagcaacgg
     1801 gaatctgtcc tgcagaagat tcgggcagcc caggtacacg tgctgatgct gacacctgag
     1861 gcactggtgg gggcgggagg cctccctcca gccgcacagc tgcctccagt tgcttttgcc
     1921 tgcattgatg aggcccactg cctctcccag tggtcccaca acttccggcc ctgctacctg
     1981 cgcgtctgca aggtgcttcg ggagcgcatg ggcgtgcact gcttcctggg cctcacagcc
     2041 acagccacac gccgcactgc cagtgacgtg gcacagcacc tggctgtggc tgaagagcct
     2101 gacctccacg ggccagcccc agttcccacc aacctgcacc tttccgtgtc catggacagg
     2161 gacacagacc aggcactgtt gacgctgctg caaggcaaac gttttcaaaa cctcgattcc
     2221 attatcattt actgcaaccg gcgcgaggac acagagcgga tcgctgcgct cctccgaacc
     2281 tgcctgcacg cagcctgggt cccagggtct ggaggtcgtg cccccaaaac cacagccgag
     2341 gcctaccacg cgggcatgtg cagccgggaa cggcggcggg tacagcgagc cttcatgcag
     2401 ggccagttgc gggtggtggt ggccacggtg gcctttggga tggggctgga ccggccagat
     2461 gtgcgggctg tgctgcatct ggggctgccc ccaagcttcg agagctacgt gcaggccgtg
     2521 ggccgggccg ggcgtgacgg gcagcctgcc cactgccacc tcttcctgca gccccagggc
     2581 gaagacctgc gagagctgcg cagacatgtg cacgccgaca gcacggactt cctggctgtg
     2641 aagaggctgg tacagcgcgt gttcccagcc tgcacctgca cctgcaccag gccgccctcg
     2701 gagcaggaag gggccgtggg tggggagagg cctgtgccca agtacccccc tcaagaggct
     2761 gagcagctta gccaccaagc agccccagga cccagaaggg tctgcatggg ccatgagcgg
     2821 gcactcccaa tacagcttac cgtacaggct ttggacatgc cggaggaggg tgaggaacct
     2881 ggggtaagcc acaggggtgt ggaggggctg tccccgcgtc cgctgagccc tgctctgccc
     2941 ccagccatcg agactttgct gtgctacctg gagctgcacc cacaccactg gctggagctg
     3001 ctggcgacca cctataccca ttgccgtctg aactgccctg ggggccctgc ccagctccag
     3061 gccctggccc acaggtgtcc ccctttggct gtgtgcttgg cccagcagct gcctgaggac
     3121 ccagggcaag gcagcagctc cgtggagttt gacatggtca agctggtgga ctccatgggc
     3181 tgggagctgg cctctgtgcg gcgggctctc tgccagctgc agtgggacca cgagcccagg
     3241 acaggtgtgc ggcgtgggac aggggtgctt gtggagttca gtgagctggc cttccacctt
     3301 cgcagcccgg gggacttgac cgctgaggag aaggaccaga tatgtgactt cctctatggc
     3361 cgtgtgcagg cccgggagcg ccaggccctg gcccgtctgc gcagaacctt ccaggccttt
     3421 cacagcgtag ccttccccag ctgcgggccc tgcctggagc agcaggatga ggagcgcagc
     3481 accaggctca aggacctgct cggccgctac tttgaggaag aggaagggca ggagccggga
     3541 ggcatggagg acgcacaggg ccccgagcca gggcaggcca gactccagga ttgggaggac
     3601 caggtccgct gcgacatccg ccagttcctg tccctgaggc cagaggagaa gttctccagc
     3661 agggctgtgg cccgcatctt ccacggcatc ggaagcccct gctacccggc ccaggtgtac
     3721 gggcaggacc gacgcttctg gagaaaatac ctgcacctga gcttccatgc cctggtgggc
     3781 ctggccacgg aagagctcct gcaggtggcc cgctgactgc actgcattgg gggatgtcgg
     3841 gtagagctgg ggttgtcaga ggctagggca gtgactgagg acctgggcaa aacctgccac
     3901 agggtgtggg aacgaggagg ctccaaaatg cagaataaaa aatgctcact ttgttttta
//
