LOCUS       NM_133636               3543 bp    mRNA    linear   PRI 07-DEC-2024
DEFINITION  Homo sapiens helicase, POLQ like (HELQ), transcript variant 1,
            mRNA.
ACCESSION   NM_133636
VERSION     NM_133636.5
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 3543)
  AUTHORS   Wan,C., Huang,Y., Xue,X., Chang,G., Wang,M., Zhao,X.Y., Luo,F. and
            Tang,Z.Z.
  TITLE     HELQ deficiency impairs the induction of primordial germ cell-like
            cells
  JOURNAL   FEBS Open Bio 14 (7), 1087-1100 (2024)
   PUBMED   38720471
  REMARK    GeneRIF: HELQ deficiency impairs the induction of primordial germ
            cell-like cells.
REFERENCE   2  (bases 1 to 3543)
  AUTHORS   Bakhshalizadeh,S., Bird,A.D., Sreenivasan,R., Bell,K.M.,
            Robevska,G., van den Bergen,J., Asghari-Jafarabadi,M., Kueh,A.J.,
            Touraine,P., Lokchine,A., Jaillard,S., Ayers,K.L., Wilhelm,D.,
            Sinclair,A.H. and Tucker,E.J.
  TITLE     A Human Homozygous HELQ Missense Variant Does Not Cause Premature
            Ovarian Insufficiency in a Mouse Model
  JOURNAL   Genes (Basel) 15 (3), 333 (2024)
   PUBMED   38540391
  REMARK    GeneRIF: A Human Homozygous HELQ Missense Variant Does Not Cause
            Premature Ovarian Insufficiency in a Mouse Model.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3543)
  AUTHORS   Zhao,Y., Hou,K., Li,Y., Hao,S., Liu,Y., Na,Y., Li,C., Cui,J.,
            Xu,X., Wu,X. and Wang,H.
  TITLE     Human HELQ regulates DNA end resection at DNA double-strand breaks
            and stalled replication forks
  JOURNAL   Nucleic Acids Res 51 (22), 12207-12223 (2023)
   PUBMED   37897354
  REMARK    GeneRIF: Human HELQ regulates DNA end resection at DNA
            double-strand breaks and stalled replication forks.
REFERENCE   4  (bases 1 to 3543)
  AUTHORS   Traband,E.L., Hammerlund,S.R., Shameem,M., Narayan,A., Ramana,S.,
            Tella,A., Sobeck,A. and Shima,N.
  TITLE     Mitotic DNA Synthesis in Untransformed Human Cells Preserves Common
            Fragile Site Stability via a FANCD2-Driven Mechanism That Requires
            HELQ
  JOURNAL   J Mol Biol 435 (22), 168294 (2023)
   PUBMED   37777152
  REMARK    GeneRIF: Mitotic DNA Synthesis in Untransformed Human Cells
            Preserves Common Fragile Site Stability via a FANCD2-Driven
            Mechanism That Requires HELQ.
REFERENCE   5  (bases 1 to 3543)
  AUTHORS   He,L., Lever,R., Cubbon,A., Tehseen,M., Jenkins,T.,
            Nottingham,A.O., Horton,A., Betts,H., Fisher,M., Hamdan,S.M.,
            Soultanas,P. and Bolt,E.L.
  TITLE     Interaction of human HelQ with DNA polymerase delta halts DNA
            synthesis and stimulates DNA single-strand annealing
  JOURNAL   Nucleic Acids Res 51 (4), 1740-1749 (2023)
   PUBMED   36718939
  REMARK    GeneRIF: Interaction of human HelQ with DNA polymerase delta halts
            DNA synthesis and stimulates DNA single-strand annealing.
REFERENCE   6  (bases 1 to 3543)
  AUTHORS   Flachsbart,F., Franke,A., Kleindorp,R., Caliebe,A., Blanche,H.,
            Schreiber,S. and Nebel,A.
  TITLE     Investigation of genetic susceptibility factors for human longevity
            - a targeted nonsynonymous SNP study
  JOURNAL   Mutat Res 694 (1-2), 13-19 (2010)
   PUBMED   20800603
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 3543)
  AUTHORS   Moldovan,G.L., Madhavan,M.V., Mirchandani,K.D., McCaffrey,R.M.,
            Vinciguerra,P. and D'Andrea,A.D.
  TITLE     DNA polymerase POLN participates in cross-link repair and
            homologous recombination
  JOURNAL   Mol Cell Biol 30 (4), 1088-1096 (2010)
   PUBMED   19995904
REFERENCE   8  (bases 1 to 3543)
  AUTHORS   Bethke,L., Murray,A., Webb,E., Schoemaker,M., Muir,K., McKinney,P.,
            Hepworth,S., Dimitropoulou,P., Lophatananon,A., Feychting,M.,
            Lonn,S., Ahlbom,A., Malmer,B., Henriksson,R., Auvinen,A., Kiuru,A.,
            Salminen,T., Johansen,C., Christensen,H.C., Kosteljanetz,M.,
            Swerdlow,A. and Houlston,R.
  TITLE     Comprehensive analysis of DNA repair gene variants and risk of
            meningioma
  JOURNAL   J Natl Cancer Inst 100 (4), 270-276 (2008)
   PUBMED   18270339
  REMARK    GeneRIF: Observational study and meta-analysis of gene-disease
            association. (HuGE Navigator)
REFERENCE   9  (bases 1 to 3543)
  AUTHORS   Marini,F., Kim,N., Schuffert,A. and Wood,R.D.
  TITLE     POLN, a nuclear PolA family DNA polymerase homologous to the DNA
            cross-link sensitivity protein Mus308
  JOURNAL   J Biol Chem 278 (34), 32014-32019 (2003)
   PUBMED   12794064
  REMARK    GeneRIF: identification of homolog to POLN
REFERENCE   10 (bases 1 to 3543)
  AUTHORS   Marini,F. and Wood,R.D.
  TITLE     A human DNA helicase homologous to the DNA cross-link sensitivity
            protein Mus308
  JOURNAL   J Biol Chem 277 (10), 8716-8723 (2002)
   PUBMED   11751861
  REMARK    GeneRIF: A human DNA helicase homologous to the DNA cross-link
            sensitivity protein Mus308
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC096768.3.
            
            On May 21, 2020 this sequence version replaced NM_133636.4.
            
            Summary: HEL308 is a single-stranded DNA-dependent ATPase and DNA
            helicase (Marini and Wood, 2002 [PubMed 11751861]).[supplied by
            OMIM, Mar 2008].
            
            Transcript Variant: This variant (1) 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 :: AF436845.1, SRR11853564.21172.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000295488.8/ ENSP00000295488.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-427               AC096768.3         72610-73036         c
            428-1142            AC096768.3         70444-71158         c
            1143-1321           AC096768.3         65996-66174         c
            1322-1522           AC096768.3         64048-64248         c
            1523-1595           AC096768.3         63227-63299         c
            1596-1693           AC096768.3         60730-60827         c
            1694-1792           AC096768.3         58518-58616         c
            1793-1938           AC096768.3         57076-57221         c
            1939-2178           AC096768.3         54071-54310         c
            2179-2320           AC096768.3         49339-49480         c
            2321-2425           AC096768.3         48877-48981         c
            2426-2648           AC096768.3         46737-46959         c
            2649-2806           AC096768.3         44776-44933         c
            2807-2905           AC096768.3         43207-43305         c
            2906-3079           AC096768.3         38776-38949         c
            3080-3193           AC096768.3         35306-35419         c
            3194-3328           AC096768.3         33944-34078         c
            3329-3543           AC096768.3         24559-24773         c
FEATURES             Location/Qualifiers
     source          1..3543
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q21.23"
     gene            1..3543
                     /gene="HELQ"
                     /gene_synonym="HEL308"
                     /note="helicase, POLQ like"
                     /db_xref="GeneID:113510"
                     /db_xref="HGNC:HGNC:18536"
                     /db_xref="MIM:606769"
     exon            1..427
                     /gene="HELQ"
                     /gene_synonym="HEL308"
                     /inference="alignment:Splign:2.1.0"
     CDS             131..3436
                     /gene="HELQ"
                     /gene_synonym="HEL308"
                     /EC_number="3.6.4.12"
                     /note="isoform 1 is encoded by transcript variant 1; DNA
                     helicase HEL308; POLQ-like helicase; mus308-like helicase"
                     /codon_start=1
                     /product="helicase POLQ-like isoform 1"
                     /protein_id="NP_598375.3"
                     /db_xref="CCDS:CCDS3603.1"
                     /db_xref="GeneID:113510"
                     /db_xref="HGNC:HGNC:18536"
                     /db_xref="MIM:606769"
                     /translation="MDECGSRIRRRVSLPKRNRPSLGCIFGAPTAAELVPGDEGKEEE
                     EMVAENRRRKTAGVLPVEVQPLLLSDSPECLVLGGGDTNPDLLRHMPTDRGVGDQPND
                     SEVDMFGDYDSFTENSFIAQVDDLEQKYMQLPEHKKHATDFATENLCSESIKNKLSIT
                     TIGNLTELQTDKHTENQSGYEGVTIEPGADLLYDVPSSQAIYFENLQNSSNDLGDHSM
                     KERDWKSSSHNTVNEELPHNCIEQPQQNDESSSKVRTSSDMNRRKSIKDHLKNAMTGN
                     AKAQTPIFSRSKQLKDTLLSEEINVAKKTVESSSNDLGPFYSLPSKVRDLYAQFKGIE
                     KLYEWQHTCLTLNSVQERKNLIYSLPTSGGKTLVAEILMLQELLCCRKDVLMILPYVA
                     IVQEKISGLSSFGIELGFFVEEYAGSKGRFPPTKRREKKSLYIATIEKGHSLVNSLIE
                     TGRIDSLGLVVVDELHMIGEGSRGATLEMTLAKILYTSKTTQIIGMSATLNNVEDLQK
                     FLQAEYYTSQFRPVELKEYLKINDTIYEVDSKAENGMTFSRLLNYKYSDTLKKMDPDH
                     LVALVTEVIPNYSCLVFCPSKKNCENVAEMICKFLSKEYLKHKEKEKCEVIKNLKNIG
                     NGNLCPVLKRTIPFGVAYHHSGLTSDERKLLEEAYSTGVLCLFTCTSTLAAGVNLPAR
                     RVILRAPYVAKEFLKRNQYKQMIGRAGRAGIDTIGESILILQEKDKQQVLELITKPLE
                     NCYSHLVQEFTKGIQTLFLSLIGLKIATNLDDIYHFMNGTFFGVQQKVLLKEKSLWEI
                     TVESLRYLTEKGLLQKDTIYKSEEEVQYNFHITKLGRASFKGTIDLAYCDILYRDLKK
                     GLEGLVLESLLHLIYLTTPYDLVSQCNPDWMIYFRQFSQLSPAEQNVAAILGVSESFI
                     GKKASGQAIGKKVDKNVVNRLYLSFVLYTLLKETNIWTVSEKFNMPRGYIQNLLTGTA
                     SFSSCVLHFCEELEEFWVYRALLVELTKKLTYCVKAELIPLMEVTGVLEGRAKQLYSA
                     GYKSLMHLANANPEVLVRTIDHLSRRQAKQIVSSAKMLLHEKAEALQEEVEELLRLPS
                     DFPGAVASSTDKA"
     exon            428..1142
                     /gene="HELQ"
                     /gene_synonym="HEL308"
                     /inference="alignment:Splign:2.1.0"
     exon            1143..1321
                     /gene="HELQ"
                     /gene_synonym="HEL308"
                     /inference="alignment:Splign:2.1.0"
     exon            1322..1522
                     /gene="HELQ"
                     /gene_synonym="HEL308"
                     /inference="alignment:Splign:2.1.0"
     exon            1523..1595
                     /gene="HELQ"
                     /gene_synonym="HEL308"
                     /inference="alignment:Splign:2.1.0"
     exon            1596..1693
                     /gene="HELQ"
                     /gene_synonym="HEL308"
                     /inference="alignment:Splign:2.1.0"
     exon            1694..1792
                     /gene="HELQ"
                     /gene_synonym="HEL308"
                     /inference="alignment:Splign:2.1.0"
     exon            1793..1938
                     /gene="HELQ"
                     /gene_synonym="HEL308"
                     /inference="alignment:Splign:2.1.0"
     exon            1939..2178
                     /gene="HELQ"
                     /gene_synonym="HEL308"
                     /inference="alignment:Splign:2.1.0"
     exon            2179..2320
                     /gene="HELQ"
                     /gene_synonym="HEL308"
                     /inference="alignment:Splign:2.1.0"
     exon            2321..2425
                     /gene="HELQ"
                     /gene_synonym="HEL308"
                     /inference="alignment:Splign:2.1.0"
     exon            2426..2648
                     /gene="HELQ"
                     /gene_synonym="HEL308"
                     /inference="alignment:Splign:2.1.0"
     exon            2649..2806
                     /gene="HELQ"
                     /gene_synonym="HEL308"
                     /inference="alignment:Splign:2.1.0"
     exon            2807..2905
                     /gene="HELQ"
                     /gene_synonym="HEL308"
                     /inference="alignment:Splign:2.1.0"
     exon            2906..3079
                     /gene="HELQ"
                     /gene_synonym="HEL308"
                     /inference="alignment:Splign:2.1.0"
     exon            3080..3193
                     /gene="HELQ"
                     /gene_synonym="HEL308"
                     /inference="alignment:Splign:2.1.0"
     exon            3194..3328
                     /gene="HELQ"
                     /gene_synonym="HEL308"
                     /inference="alignment:Splign:2.1.0"
     exon            3329..3543
                     /gene="HELQ"
                     /gene_synonym="HEL308"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3489..3494
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HELQ"
                     /gene_synonym="HEL308"
                     /note="hexamer: ATTAAA"
     regulatory      3521..3526
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HELQ"
                     /gene_synonym="HEL308"
                     /note="hexamer: AATACA"
     polyA_site      3522
                     /gene="HELQ"
                     /gene_synonym="HEL308"
                     /note="major polyA site"
     polyA_site      3543
                     /gene="HELQ"
                     /gene_synonym="HEL308"
                     /note="major polyA site"
ORIGIN      
        1 gagagctaac ttggggtctt ttcccaaggt ggatgtagaa gcgggctccg gcgtcccact
       61 ctcccttcca tatgggctta gcgtctgggt cactgagaac gacgtctgaa tagggccctg
      121 ggtccttgcc atggatgaat gtggttcccg catccgccgg cgggtgtctc tccccaaaag
      181 gaaccgtcca agcttggggt gtatttttgg cgctcccacc gcggccgagc tcgtgcccgg
      241 agatgagggg aaagaggagg aggaaatggt ggctgagaac aggaggcgga aaaccgcggg
      301 cgtactgccg gttgaggtac agccccttct actctcagat tccccggaat gtctcgtcct
      361 tggaggtggt gatacaaacc cggacctcct acgtcacatg cccactgaca gaggggtggg
      421 agaccagcct aatgacagtg aagtggacat gtttggtgac tatgatagct ttactgaaaa
      481 ctcctttata gctcaagttg acgacctgga acaaaaatat atgcaactcc ctgaacataa
      541 gaaacatgct acagactttg ccactgaaaa tctttgctcg gaaagtatca aaaacaaact
      601 cagcattact accataggca accttactga attacaaact gataagcaca cagagaacca
      661 gagtggatat gaaggtgtca ctattgaacc tggagctgat cttttgtatg atgtaccttc
      721 ctcacaggct atatactttg aaaatttgca gaactcttca aatgatttgg gtgatcattc
      781 tatgaaagaa agggattgga agtcatcctc tcacaacact gtgaatgagg aactgcccca
      841 taattgcata gagcaacccc agcaaaatga tgagtcctct tccaaagtca gaactagttc
      901 agatatgaac aggagaaaaa gtattaaaga tcatctaaaa aatgccatga ctggaaatgc
      961 gaaggcccag acaccaatat tttctagaag taaacagctc aaagacactc tcctatctga
     1021 ggaaattaat gttgctaaga aaacagttga gtcatcatca aatgaccttg gtccttttta
     1081 ttcattaccc agcaaagtga gagaccttta tgcccaattc aagggaattg aaaaattata
     1141 tgaatggcaa catacttgtt taacattgaa ttctgtgcaa gaaagaaaaa atttaatata
     1201 ttccttgcca acaagtggtg gaaaaaccct cgtggctgag attttaatgc tgcaagaact
     1261 gctttgctgt cggaaagatg ttttaatgat tcttccatat gtggcaattg tccaagaaaa
     1321 gatttcaggt ttgtcaagtt ttggtataga actcggtttc tttgttgaag aatatgctgg
     1381 aagcaaagga agatttcctc caactaaaag aagggaaaag aaatcactct atattgccac
     1441 tattgaaaaa ggacatagct tggtgaactc cttgattgaa actggaagaa ttgacagtct
     1501 gggtctggtt gttgtagacg agttgcacat gattggtgaa ggaagccgtg gagctacact
     1561 ggaaatgacc ctagcaaaaa tcctctacac tagcaaaacg actcaaatta ttggtatgag
     1621 tgcaacatta aacaatgttg aagacctaca aaagtttctt caagcagaat attataccag
     1681 tcaatttaga ccagttgagt taaaagaata tctgaaaata aatgatacaa tatatgaagt
     1741 tgacagcaaa gctgagaatg gcatgacttt ttcacgtctt cttaattata agtattctga
     1801 taccctaaaa aagatggatc ctgatcactt ggtagcattg gtgacagaag ttattcccaa
     1861 ttattcctgc ttagtttttt gtcctagtaa gaagaactgt gaaaatgtag cagaaatgat
     1921 atgcaaattt ttaagcaagg aatatctgaa acataaggag aaagaaaaat gtgaggtgat
     1981 taagaacttg aagaatattg gcaatggcaa cctgtgtcct gttttaaagc gcactatccc
     2041 atttggagtt gcctatcacc acagtggctt aacaagtgat gaaaggaaac tcttggagga
     2101 ggcctactcc acaggagtgc tctgtctttt tacctgcaca tctaccctag cggcaggtgt
     2161 caacctacca gctcgaagag ttattttaag agctccctat gttgctaagg aatttttaaa
     2221 gaggaatcaa tataaacaga tgattggcag agctggtcgt gctggaatag atactattgg
     2281 ggagagtatc ctcatattgc aagaaaaaga caaacaacag gtattggagt taataactaa
     2341 accattggaa aactgttaca gccatcttgt tcaggaattc accaagggaa tccaaacatt
     2401 atttctctct ttgattggtt tgaagattgc aacgaatctt gatgacatct atcatttcat
     2461 gaatggtaca ttttttggtg ttcagcaaaa ggttttattg aaagaaaaaa gtctctggga
     2521 aataactgtt gaatcactta gatacctgac agaaaaagga ctcctacaaa aagacactat
     2581 ttataagtct gaagaagagg tccaatataa ttttcatatt acaaagttgg gacgtgcttc
     2641 atttaaggga actatagatt tagcttattg tgacattctg tacagagact tgaagaaagg
     2701 tcttgaagga cttgtgcttg aaagccttct tcatctaatc tacctaacaa ccccctatga
     2761 tctggtttca cagtgtaacc ctgattggat gatatacttc aggcagttta gccaactcag
     2821 tccagcagaa caaaatgtag ctgccattct tggagtctct gaaagcttta ttgggaagaa
     2881 agcatcaggc caagccatcg gaaagaaggt ggacaagaac gttgtcaaca ggctatatct
     2941 gtcttttgtt ctttatacct tgctcaaaga gaccaacatt tggactgtat ctgaaaaatt
     3001 taatatgcct cgaggatata tacaaaatct tctcactgga actgcctcat tctcatcttg
     3061 tgtgttacat ttctgtgagg agcttgagga gttttgggtt tacagagccc ttttggtaga
     3121 acttaccaag aagctgactt actgtgtaaa ggcagaatta atccctctca tggaagttac
     3181 tggagtttta gagggtcgag caaaacagtt atacagtgca ggttacaaaa gtctaatgca
     3241 cttagctaat gcaaatcctg aagtgctcgt aaggacaatt gatcatttat caagacgcca
     3301 agccaagcaa attgtttcat cagcaaagat gctgttgcat gaaaaagcag aagccctgca
     3361 agaagaggta gaagagttac taagattgcc ttctgatttc cctggtgctg tggcttcttc
     3421 cactgacaaa gcatgaagct atctgatgag aattttcata tatgaattat ttattgtaca
     3481 tgtgtgttat taaagataac ttatacttta taaatgaaaa aatacatttc agttatacat
     3541 taa
//
