LOCUS       NM_004260               3819 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens RecQ like helicase 4 (RECQL4), transcript variant 1,
            mRNA.
ACCESSION   NM_004260
VERSION     NM_004260.4
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 3819)
  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 3819)
  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 3819)
  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 3819)
  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 3819)
  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 3819)
  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 3819)
  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 3819)
  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 3819)
  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 3819)
  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.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 30, 2019 this sequence version replaced NM_004260.3.
            
            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 :: AB006532.1, SRR18074969.3616689.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000617875.6/ ENSP00000482313.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-133               AC084125.9         110918-111050
            134-167             AC084125.9         111116-111149
            168-262             AC084125.9         111243-111337
            263-403             AC084125.9         111561-111701
            404-1180            AC084125.9         111987-112763
            1181-1307           AC084125.9         112861-112987
            1308-1439           AC084125.9         113294-113425
            1440-1532           AC084125.9         113509-113601
            1533-1669           AC084125.9         113679-113815
            1670-1753           AC084125.9         114226-114309
            1754-1927           AC084125.9         114389-114562
            1928-2107           AC084125.9         114644-114823
            2108-2249           AC084125.9         115039-115180
            2250-2263           AC084125.9         115271-115284
            2264-2349           KF495717.1         1-86                c
            2350-2512           AC084125.9         115372-115534
            2513-2804           AC084125.9         115614-115905
            2805-2934           AC084125.9         115981-116110
            2935-3104           AC084125.9         116191-116360
            3105-3285           AC084125.9         116428-116608
            3286-3442           AC084125.9         116685-116841
            3443-3551           AC084125.9         116963-117071
            3552-3819           AC084125.9         117197-117464
FEATURES             Location/Qualifiers
     source          1..3819
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.3"
     gene            1..3819
                     /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..133
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /inference="alignment:Splign:2.1.0"
     CDS             50..3676
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /EC_number="5.6.2.4"
                     /note="isoform 1 is encoded by transcript variant 1;
                     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 1"
                     /protein_id="NP_004251.4"
                     /db_xref="CCDS:CCDS75804.1"
                     /db_xref="GeneID:9401"
                     /db_xref="HGNC:HGNC:9949"
                     /db_xref="MIM:603780"
                     /translation="MERLRDVRERLQAWERAFRRQRGRRPSQDDVEAAPEETRALYRE
                     YRTLKRTTGQAGGGLRSSESLPAAAEEAPEPRCWGPHLNRAATKSPQSTPGRSRQGSV
                     PDYGQRLKANLKGTLQAGPALGRRPWPLGRASSKASTPKPPGTGPVPSFAEKVSDEPP
                     QLPEPQPRPGRLQHLQASLSQRLGSLDPGWLQRCHSEVPDFLGAPKACRPDLGSEESQ
                     LLIPGESAVLGPGAGSQGPEASAFQEVSIRVGSPQPSSSGGEKRRWNEEPWESPAQVQ
                     QESSQAGPPSEGAGAVAVEEDPPGEPVQAQPPQPCSSPSNPRYHGLSPSSQARAGKAE
                     GTAPLHIFPRLARHDRGNYVRLNMKQKHYVRGRALRSRLLRKQAWKQKWRKKGECFGG
                     GGATVTTKESCFLNEQFDHWAAQCPRPASEEDTDAVGPEPLVPSPQPVPEVPSLDPTV
                     LPLYSLGPSGQLAETPAEVFQALEQLGHQAFRPGQERAVMRILSGISTLLVLPTGAGK
                     SLCYQLPALLYSRRSPCLTLVVSPLLSLMDDQVSGLPPCLKAACIHSGMTRKQRESVL
                     QKIRAAQVHVLMLTPEALVGAGGLPPAAQLPPVAFACIDEAHCLSQWSHNFRPCYLRV
                     CKVLRERMGVHCFLGLTATATRRTASDVAQHLAVAEEPDLHGPAPVPTNLHLSVSMDR
                     DTDQALLTLLQGKRFQNLDSIIIYCNRREDTERIAALLRTCLHAAWVPGSGGRAPKTT
                     AEAYHAGMCSRERRRVQRAFMQGQLRVVVATVAFGMGLDRPDVRAVLHLGLPPSFESY
                     VQAVGRAGRDGQPAHCHLFLQPQGEDLRELRRHVHADSTDFLAVKRLVQRVFPACTCT
                     CTRPPSEQEGAVGGERPVPKYPPQEAEQLSHQAAPGPRRVCMGHERALPIQLTVQALD
                     MPEEAIETLLCYLELHPHHWLELLATTYTHCRLNCPGGPAQLQALAHRCPPLAVCLAQ
                     QLPEDPGQGSSSVEFDMVKLVDSMGWELASVRRALCQLQWDHEPRTGVRRGTGVLVEF
                     SELAFHLRSPGDLTAEEKDQICDFLYGRVQARERQALARLRRTFQAFHSVAFPSCGPC
                     LEQQDEERSTRLKDLLGRYFEEEEGQEPGGMEDAQGPEPGQARLQDWEDQVRCDIRQF
                     LSLRPEEKFSSRAVARIFHGIGSPCYPAQVYGQDRRFWRKYLHLSFHALVGLATEELL
                     QVAR"
     exon            134..167
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            168..262
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            263..403
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            404..1180
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            1181..1307
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            1308..1439
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            1440..1532
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            1533..1669
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            1670..1753
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            1754..1927
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            1928..2107
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            2108..2249
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            2250..2512
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            2513..2804
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            2805..2934
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            2935..3104
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            3105..3285
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            3286..3442
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            3443..3551
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /inference="alignment:Splign:2.1.0"
     exon            3552..3819
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3794..3799
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RECQL4"
                     /gene_synonym="RECQ4"
                     /note="hexamer: AATAAA"
     polyA_site      3819
                     /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 caggacgacg tggaggcggc gccggaggag acccgcgcgc tctaccggga
      181 ataccgcact ctgaagcgta ccacgggcca ggccggcggc gggctccgca gctccgagtc
      241 gctccccgcg gcggccgaag aggcgccaga gccccgctgc tgggggcccc atctgaatcg
      301 ggctgcgacc aagagtccac agtctacgcc agggcggagc cgccagggct cggtgccgga
      361 ctacgggcag cggctcaagg ccaatctgaa aggcaccctg caggccggac cagccctggg
      421 ccgcagaccg tggcctctag gaagagcctc atctaaggca tccaccccaa agcccccagg
      481 tacagggcct gtcccctcct ttgcagaaaa agtcagtgat gagcctccac agctccctga
      541 gccccagcca aggccaggcc ggctccagca tctgcaggca tccctgagcc agcggctggg
      601 ctccctagat cctggctggt tacagcgatg tcacagtgag gtcccagatt ttctgggggc
      661 ccccaaagcc tgcaggcctg atctaggctc agaggaatca caacttctga tccctggtga
      721 gtcggctgtc cttggtcctg gtgctggctc ccagggccca gaggcttcag ccttccaaga
      781 agtcagcatc cgtgtgggga gcccccagcc cagcagcagt ggaggcgaga agcggagatg
      841 gaacgaggag ccctgggaga gccccgcaca ggtccagcag gagagcagcc aagctggacc
      901 cccatcggag ggggctgggg ctgtagcagt tgaggaagac cctccagggg aacctgtaca
      961 ggcacagcca cctcagccct gcagcagccc atcgaacccc aggtaccacg gactcagccc
     1021 ctccagtcaa gctagggctg ggaaggctga gggcacagcc cccctgcaca tcttccctcg
     1081 gctggcccgc catgacaggg gcaattacgt acggctcaac atgaagcaga aacactacgt
     1141 gcggggccgg gcactccgta gcaggctcct ccgcaagcag gcatggaagc agaagtggcg
     1201 gaagaaaggg gagtgttttg ggggtggtgg tgccacagtc acaaccaagg agtcttgttt
     1261 cctgaacgag cagttcgatc actgggcagc ccagtgtccc cggccagcaa gtgaggaaga
     1321 cacagatgct gttgggcctg agccactggt tccttcacca caacctgtac ctgaggtgcc
     1381 cagcctggac cccaccgtgc tgccactcta ctccctgggg ccctcagggc agttggcaga
     1441 gacgccggct gaggtgttcc aggccctgga gcagctgggg caccaagcct ttcgccctgg
     1501 gcaggagcgt gcagtcatgc ggatcctgtc tggcatctcc acgctgctgg tgctgcctac
     1561 aggtgccggc aagtccctgt gctaccagct cccagcgctg ctctacagcc ggcgcagccc
     1621 ctgcctcacg ttggtcgtct ctcccctgct gtcactcatg gatgaccagg tgtctggcct
     1681 gccaccgtgt ctcaaggcgg cctgcataca ctcgggcatg accaggaagc aacgggaatc
     1741 tgtcctgcag aagattcggg cagcccaggt acacgtgctg atgctgacac ctgaggcact
     1801 ggtgggggcg ggaggcctcc ctccagccgc acagctgcct ccagttgctt ttgcctgcat
     1861 tgatgaggcc cactgcctct cccagtggtc ccacaacttc cggccctgct acctgcgcgt
     1921 ctgcaaggtg cttcgggagc gcatgggcgt gcactgcttc ctgggcctca cagccacagc
     1981 cacacgccgc actgccagtg acgtggcaca gcacctggct gtggctgaag agcctgacct
     2041 ccacgggcca gccccagttc ccaccaacct gcacctttcc gtgtccatgg acagggacac
     2101 agaccaggca ctgttgacgc tgctgcaagg caaacgtttt caaaacctcg attccattat
     2161 catttactgc aaccggcgcg aggacacaga gcggatcgct gcgctcctcc gaacctgcct
     2221 gcacgcagcc tgggtcccag ggtctggagg tcgtgccccc aaaaccacag ccgaggccta
     2281 ccacgcgggc atgtgcagcc gggaacggcg gcgggtacag cgagccttca tgcagggcca
     2341 gttgcgggtg gtggtggcca cggtggcctt tgggatgggg ctggaccggc cagatgtgcg
     2401 ggctgtgctg catctggggc tgcccccaag cttcgagagc tacgtgcagg ccgtgggccg
     2461 ggccgggcgt gacgggcagc ctgcccactg ccacctcttc ctgcagcccc agggcgaaga
     2521 cctgcgagag ctgcgcagac atgtgcacgc cgacagcacg gacttcctgg ctgtgaagag
     2581 gctggtacag cgcgtgttcc cagcctgcac ctgcacctgc accaggccgc cctcggagca
     2641 ggaaggggcc gtgggtgggg agaggcctgt gcccaagtac ccccctcaag aggctgagca
     2701 gcttagccac caagcagccc caggacccag aagggtctgc atgggccatg agcgggcact
     2761 cccaatacag cttaccgtac aggctttgga catgccggag gaggccatcg agactttgct
     2821 gtgctacctg gagctgcacc cacaccactg gctggagctg ctggcgacca cctataccca
     2881 ttgccgtctg aactgccctg ggggccctgc ccagctccag gccctggccc acaggtgtcc
     2941 ccctttggct gtgtgcttgg cccagcagct gcctgaggac ccagggcaag gcagcagctc
     3001 cgtggagttt gacatggtca agctggtgga ctccatgggc tgggagctgg cctctgtgcg
     3061 gcgggctctc tgccagctgc agtgggacca cgagcccagg acaggtgtgc ggcgtgggac
     3121 aggggtgctt gtggagttca gtgagctggc cttccacctt cgcagcccgg gggacttgac
     3181 cgctgaggag aaggaccaga tatgtgactt cctctatggc cgtgtgcagg cccgggagcg
     3241 ccaggccctg gcccgtctgc gcagaacctt ccaggccttt cacagcgtag ccttccccag
     3301 ctgcgggccc tgcctggagc agcaggatga ggagcgcagc accaggctca aggacctgct
     3361 cggccgctac tttgaggaag aggaagggca ggagccggga ggcatggagg acgcacaggg
     3421 ccccgagcca gggcaggcca gactccagga ttgggaggac caggtccgct gcgacatccg
     3481 ccagttcctg tccctgaggc cagaggagaa gttctccagc agggctgtgg cccgcatctt
     3541 ccacggcatc ggaagcccct gctacccggc ccaggtgtac gggcaggacc gacgcttctg
     3601 gagaaaatac ctgcacctga gcttccatgc cctggtgggc ctggccacgg aagagctcct
     3661 gcaggtggcc cgctgactgc actgcattgg gggatgtcgg gtagagctgg ggttgtcaga
     3721 ggctagggca gtgactgagg acctgggcaa aacctgccac agggtgtggg aacgaggagg
     3781 ctccaaaatg cagaataaaa aatgctcact ttgttttta
//
