LOCUS       NM_017669               4218 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens ERCC excision repair 6 like, spindle assembly
            checkpoint helicase (ERCC6L), transcript variant 1, mRNA.
ACCESSION   NM_017669
VERSION     NM_017669.4
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 4218)
  AUTHORS   Yang,H., Zhen,X., Yang,Y., Zhang,Y., Zhang,S., Hao,Y., Du,G.,
            Wang,H., Zhang,B., Li,W. and Wang,J.
  TITLE     ERCC6L facilitates the onset of mammary neoplasia and promotes the
            high malignance of breast cancer by accelerating the cell cycle
  JOURNAL   J Exp Clin Cancer Res 42 (1), 227 (2023)
   PUBMED   37667329
  REMARK    GeneRIF: ERCC6L facilitates the onset of mammary neoplasia and
            promotes the high malignance of breast cancer by accelerating the
            cell cycle.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4218)
  AUTHORS   Lu,Z., Fei,L. and Hou,G.
  TITLE     A pan-cancer analysis of the oncogenic role of ERCC6L
  JOURNAL   BMC Cancer 22 (1), 1347 (2022)
   PUBMED   36550435
  REMARK    GeneRIF: A pan-cancer analysis of the oncogenic role of ERCC6L.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4218)
  AUTHORS   Huang,X., Jiang,L., Lu,S., Yuan,M., Lin,H., Li,B., Wen,Z. and
            Zhong,Y.
  TITLE     Overexpression of ERCC6L correlates with poor prognosis and confers
            malignant phenotypes of lung adenocarcinoma
  JOURNAL   Oncol Rep 48 (1) (2022)
   PUBMED   35656882
  REMARK    GeneRIF: Overexpression of ERCC6L correlates with poor prognosis
            and confers malignant phenotypes of lung adenocarcinoma.
REFERENCE   4  (bases 1 to 4218)
  AUTHORS   Nielsen,C.F. and Hickson,I.D.
  TITLE     PICH promotes mitotic chromosome segregation: Identification of a
            novel role in rDNA disjunction
  JOURNAL   Cell Cycle 15 (20), 2704-2711 (2016)
   PUBMED   27565185
  REMARK    GeneRIF: the mitotic roles of PICH and explore further the role of
            PICH in the timely segregation of the ribosomal DNA locus, are
            reported.
REFERENCE   5  (bases 1 to 4218)
  AUTHORS   Lee,C.C. and Matunis,M.J.
  TITLE     Resolving Chromatin Bridges With SIMs, SUMOs and PICH
  JOURNAL   Cell Cycle 15 (19), 2547-2548 (2016)
   PUBMED   27464337
REFERENCE   6  (bases 1 to 4218)
  AUTHORS   Sridharan,V. and Azuma,Y.
  TITLE     SUMO-interacting motifs (SIMs) in Polo-like kinase 1-interacting
            checkpoint helicase (PICH) ensure proper chromosome segregation
            during mitosis
  JOURNAL   Cell Cycle 15 (16), 2135-2144 (2016)
   PUBMED   27230136
  REMARK    GeneRIF: a novel SUMO-dependent regulation of PICH's function on
            mitotic centromeres, is reported.
REFERENCE   7  (bases 1 to 4218)
  AUTHORS   Baumann,C., Korner,R., Hofmann,K. and Nigg,E.A.
  TITLE     PICH, a centromere-associated SNF2 family ATPase, is regulated by
            Plk1 and required for the spindle checkpoint
  JOURNAL   Cell 128 (1), 101-114 (2007)
   PUBMED   17218258
  REMARK    GeneRIF: These data identify PICH as a novel essential component of
            checkpoint signaling.
REFERENCE   8  (bases 1 to 4218)
  AUTHORS   Xu,Y., Chen,X. and Li,Y.
  TITLE     Ercc6l, a gene of SNF2 family, may play a role in the teratogenic
            action of alcohol
  JOURNAL   Toxicol Lett 157 (3), 233-239 (2005)
   PUBMED   15917148
  REMARK    GeneRIF: Functional characterization of the mouse Ercc6l ortholog.
REFERENCE   9  (bases 1 to 4218)
  AUTHORS   Beausoleil,S.A., Jedrychowski,M., Schwartz,D., Elias,J.E.,
            Villen,J., Li,J., Cohn,M.A., Cantley,L.C. and Gygi,S.P.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
REFERENCE   10 (bases 1 to 4218)
  AUTHORS   Cui,T., Welkowitz,W., Li,J.K., Petrucelli,S. and Spotnitz,A.
  TITLE     A novel mechanical cardiac assist device for reversing left
            ventricular failure
  JOURNAL   ASAIO Trans 36 (3), M401-M404 (1990)
   PUBMED   2252711
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB067255.1 and BC111486.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_017669.3.
            
            Summary: This gene encodes a member of the SWItch/Sucrose
            Non-Fermentable (SWI/SNF2) family of proteins, and contains a
            SNF2-like ATPase domain and a PICH family domain. One
            distinguishing feature of this SWI/SNF protein family member is
            that during interphase, the protein is excluded from the nucleus,
            and only associates with chromatin after the nuclear envelope has
            broken down. This protein is a DNA translocase that is thought to
            bind double-stranded DNA that is exposed to stretching forces, such
            as those exerted by the mitotic spindle. This protein associates
            with ribosomal DNA and ultra-fine DNA bridges (UFBs), fine
            structures that connect sister chromatids during anaphase at some
            sites such as fragile sites, telomeres and centromeres. This gene
            is required for the faithful segregation of sister chromatids
            during mitosis, and the ATPase activity of this protein required
            for the resolution of UFBs before cytokinesis. [provided by RefSeq,
            May 2017].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (a).
            
            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 :: BC111486.1, EU069463.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000334463.4/ ENSP00000334675.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-96                DB067255.1         21-116
            97-4218             BC111486.1         1-4122
FEATURES             Location/Qualifiers
     source          1..4218
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq13.1"
     gene            1..4218
                     /gene="ERCC6L"
                     /gene_synonym="PICH; RAD26L"
                     /note="ERCC excision repair 6 like, spindle assembly
                     checkpoint helicase"
                     /db_xref="GeneID:54821"
                     /db_xref="HGNC:HGNC:20794"
                     /db_xref="MIM:300687"
     exon            1..184
                     /gene="ERCC6L"
                     /gene_synonym="PICH; RAD26L"
                     /inference="alignment:Splign:2.1.0"
     CDS             117..3869
                     /gene="ERCC6L"
                     /gene_synonym="PICH; RAD26L"
                     /EC_number="3.6.4.12"
                     /note="isoform a is encoded by transcript variant 1;
                     SNF2/RAD54 family protein; excision repair protein
                     ERCC6-like; excision repair cross-complementing rodent
                     repair deficiency complementation group 6 - like; DNA
                     excision repair protein ERCC-6-like; excision repair
                     cross-complementation group 6 like; Plk1-interacting
                     checkpoint helicase; tumor antigen BJ-HCC-15;
                     ATP-dependent helicase ERCC6-like; excision repair
                     cross-complementing rodent repair deficiency,
                     complementation group 6-like"
                     /codon_start=1
                     /product="DNA excision repair protein ERCC-6-like isoform
                     a"
                     /protein_id="NP_060139.2"
                     /db_xref="CCDS:CCDS35329.1"
                     /db_xref="GeneID:54821"
                     /db_xref="HGNC:HGNC:20794"
                     /db_xref="MIM:300687"
                     /translation="MEASRRFPEAEALSPEQAAHYLRYVKEAKEATKNGDLEEAFKLF
                     NLAKDIFPNEKVLSRIQKIQEALEELAEQGDDEFTDVCNSGLLLYRELHNQLFEHQKE
                     GIAFLYSLYRDGRKGGILADDMGLGKTVQIIAFLSGMFDASLVNHVLLIMPTNLINTW
                     VKEFIKWTPGMRVKTFHGPSKDERTRNLNRIQQRNGVIITTYQMLINNWQQLSSFRGQ
                     EFVWDYVILDEAHKIKTSSTKSAICARAIPASNRLLLTGTPIQNNLQELWSLFDFACQ
                     GSLLGTLKTFKMEYENPITRAREKDATPGEKALGFKISENLMAIIKPYFLRRTKEDVQ
                     KKKSSNPEARLNEKNPDVDAICEMPSLSRKNDLIIWIRLVPLQEEIYRKFVSLDHIKE
                     LLMETRSPLAELGVLKKLCDHPRLLSARACCLLNLGTFSAQDGNEGEDSPDVDHIDQV
                     TDDTLMEESGKMIFLMDLLKRLRDEGHQTLVFSQSRQILNIIERLLKNRHFKTLRIDG
                     TVTHLLEREKRINLFQQNKDYSVFLLTTQVGGVGLTLTAATRVVIFDPSWNPATDAQA
                     VDRVYRIGQKENVVVYRLITCGTVEEKIYRRQVFKDSLIRQTTGEKKNPFRYFSKQEL
                     RELFTIEDLQNSVTQLQLQSLHAAQRKSDIKLDEHIAYLQSLGIAGISDHDLMYTCDL
                     SVKEELDVVEESHYIQQRVQKAQFLVEFESQNKEFLMEQQRTRNEGAWLREPVFPSST
                     KKKCPKLNKPQPQPSPLLSTHHTQEEDISSKMASVVIDDLPKEGEKQDLSSIKVNVTT
                     LQDGKGTGSADSIATLPKGFGSVEELCTNSSLGMEKSFATKNEAVQKETLQEGPKQEA
                     LQEDPLESFNYVLSKSTKADIGPNLDQLKDDEILRHCNPWPIISITNESQNAESNVSI
                     IEIADDLSASHSALQDAQASEAKLEEEPSASSPQYACDFNLFLEDSADNRQNFSSQSL
                     EHVEKENSLCGSAPNSRAGFVHSKTCLSWEFSEKDDEPEEVVVKAKIRSKARRIVSDG
                     EDEDDSFKDTSSINPFNTSLFQFSSVKQFDASTPKNDISPPGRFFSSQIPSSVNKSMN
                     SRRSLASRRSLINMVLDHVEDMEERLDDSSEAKGPEDYPEEGVEESSGEASKYTEEDP
                     SGETLSSENKSSWLMTSKPSALAQETSLGAPEPLSGEQLVGSPQDKAAEATNDYETLV
                     KRGKELKECGKIQEALNCLVKALDIKSADPEVMLLTLSLYKQLNNN"
     exon            185..4218
                     /gene="ERCC6L"
                     /gene_synonym="PICH; RAD26L"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4199..4204
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ERCC6L"
                     /gene_synonym="PICH; RAD26L"
                     /note="hexamer: ATTAAA"
     polyA_site      4218
                     /gene="ERCC6L"
                     /gene_synonym="PICH; RAD26L"
                     /note="major polyA site"
ORIGIN      
        1 atgcgcgggg cgggagtgag cgaaattcaa gctccaaact ctaagctcca agctccaagc
       61 tccaagctcc aagctccaaa ctcccgccgg ggtaactgga acccaatccg agggtcatgg
      121 aggcatcccg aaggtttccg gaagccgagg ccttgagccc agagcaggct gctcattacc
      181 taagatatgt gaaagaggcc aaagaagcaa ctaagaatgg agacctggaa gaagcattta
      241 aacttttcaa tttggcaaag gacatttttc ccaatgaaaa agtgctgagc agaatccaaa
      301 aaatacagga agccttggag gagttggcag aacagggaga tgatgaattt acagatgtgt
      361 gcaactctgg cttgctactt tatcgagaac tgcacaacca actctttgag caccagaagg
      421 aaggcatagc tttcctctat agcctgtata gggatggaag aaaaggtggt atattggctg
      481 atgatatggg attagggaag actgttcaaa tcattgcttt cctttccggt atgtttgatg
      541 catcacttgt gaatcatgtg ctgctgatca tgccaaccaa tcttattaac acatgggtaa
      601 aagaattcat caagtggact ccaggaatga gagtcaaaac ctttcatggt cctagcaagg
      661 atgaacggac cagaaacctc aatcggattc agcaaaggaa tggtgttatt atcactacat
      721 accaaatgtt aatcaataac tggcagcaac tttcaagctt taggggccaa gagtttgtgt
      781 gggactatgt catcctcgat gaagcacata aaataaaaac ctcatctact aagtcagcaa
      841 tatgtgctcg tgctattcct gcaagtaatc gcctcctcct cacaggaacc ccaatccaga
      901 ataatttaca agaactatgg tccctatttg attttgcttg tcaagggtcc ctgctgggaa
      961 cattaaaaac ttttaagatg gagtatgaaa atcctattac tagagcaaga gagaaggatg
     1021 ctaccccagg agaaaaagcc ttgggattta aaatatctga aaacttaatg gcaatcataa
     1081 aaccctattt tctcaggagg actaaagaag acgtacagaa gaaaaagtca agcaacccag
     1141 aggccagact taatgaaaag aatccagatg ttgatgccat ttgtgaaatg ccttcccttt
     1201 ccaggaaaaa tgatttaatt atttggatac gacttgtgcc tttacaagaa gaaatataca
     1261 ggaaatttgt gtctttagat catatcaagg agttgctaat ggagacgcgc tcacctttgg
     1321 ctgagctagg tgtcttaaag aagctgtgtg atcatcctag gctgctgtct gcacgggctt
     1381 gttgtttgct aaatcttggg acattctctg ctcaagatgg aaatgagggg gaagattccc
     1441 cagatgtgga ccatattgat caagtaactg atgacacatt gatggaagaa tctggaaaaa
     1501 tgatattcct aatggaccta cttaagaggc tgcgagatga gggacatcaa actctggtgt
     1561 tttctcaatc gaggcaaatt ctaaacatca ttgaacgcct cttaaagaat aggcacttta
     1621 agacattgcg aatcgatggg acagttactc atcttttgga acgagaaaaa agaattaact
     1681 tattccagca aaataaagat tactctgttt ttctgcttac cactcaagta ggtggtgtcg
     1741 gtttaacatt aactgcagca actagagtgg tcatttttga ccctagctgg aatcctgcaa
     1801 ctgatgctca agctgtggat agagtttacc gaattggaca aaaagagaat gttgtggttt
     1861 ataggctaat cacttgtggg actgtagagg aaaaaatata cagaagacag gttttcaagg
     1921 actcattaat aagacaaact actggtgaaa aaaagaaccc tttccgatat tttagtaaac
     1981 aagaattaag agagctcttt acaatcgagg atcttcagaa ctctgtaacc cagctgcagc
     2041 ttcagtcttt gcatgctgct cagaggaaat ctgatataaa actagatgaa catattgcct
     2101 acctgcagtc tttggggata gctggaatct cagaccatga tttgatgtac acatgtgatc
     2161 tgtctgttaa agaagagctt gatgtggtag aagaatctca ctatattcaa caaagggttc
     2221 agaaagctca attcctcgtt gaattcgagt ctcaaaataa agagttcctg atggaacaac
     2281 aaagaactag aaatgagggg gcctggctaa gagaacctgt atttccttct tcaacaaaga
     2341 agaaatgccc taaattgaat aaaccacagc ctcagccttc acctcttcta agtactcatc
     2401 atactcagga agaagatatc agttccaaaa tggcaagtgt agtcattgat gatctgccca
     2461 aagagggtga gaaacaagat ctctccagta taaaggtgaa tgttaccacc ttgcaagatg
     2521 gtaaaggtac aggtagtgct gactctatag ctactttacc aaaggggttt ggaagtgtag
     2581 aagaactttg tactaactct tcattgggaa tggaaaaaag ctttgcaact aaaaatgaag
     2641 ctgtacaaaa agagacatta caagaggggc ctaagcaaga ggcactgcaa gaggatcctc
     2701 tggaaagttt taattatgta cttagcaaat caaccaaagc tgatattggg ccaaatttag
     2761 atcaactaaa ggatgatgag attttacgtc attgcaatcc ttggcccatt atttccataa
     2821 caaatgaaag tcaaaatgca gaatcaaatg tatccattat tgaaatagct gatgaccttt
     2881 cagcatccca tagtgcactg caggatgctc aagcaagtga ggccaagttg gaagaggaac
     2941 cttcagcatc ttcaccacag tatgcatgtg atttcaatct tttcttggaa gactcagcag
     3001 acaacagaca aaatttttcc agtcagtctt tagagcatgt tgagaaagaa aatagcttgt
     3061 gtggctctgc acctaattcc agagcagggt ttgtgcatag caaaacatgt ctcagttggg
     3121 agttttctga gaaagacgat gaaccagaag aagtagtagt taaagcaaaa atcagaagta
     3181 aagctagaag gattgtttca gatggcgaag atgaagatga ttcttttaaa gatacctcaa
     3241 gcataaatcc attcaacaca tctctctttc aattctcatc tgtgaaacaa tttgatgctt
     3301 caactcccaa aaatgacatc agtccaccag gaaggttctt ttcatctcaa atacccagta
     3361 gtgtaaataa gtctatgaac tctagaagat ctctggcttc taggaggtct cttattaata
     3421 tggttttaga ccacgtggag gacatggagg aaagacttga cgacagcagt gaagcaaagg
     3481 gtcctgaaga ttatccagaa gaaggggtgg aggaaagcag tggcgaagcc tccaagtata
     3541 cagaagagga tccttccgga gaaacactgt cttcagaaaa caagtccagc tggttaatga
     3601 cgtctaagcc tagtgctcta gctcaagaga cctctcttgg tgcccctgag cctttgtctg
     3661 gtgaacagtt ggttggttct ccccaggata aggcggcaga ggctacaaat gactatgaga
     3721 ctcttgtaaa gcgtggaaaa gaactaaaag agtgtggaaa aatccaggag gccctaaact
     3781 gcttagttaa agcgcttgac ataaaaagtg cagatcctga agttatgctc ttgactttaa
     3841 gtttgtataa gcaacttaat aacaattgag aatgtaacct gtttattgta ttttaaagtg
     3901 aaactgaata tgagggaatt tttgttccca taattggatt ctttgggaac atgaagcatt
     3961 caggcttaag gcaagaaaga tctcaaaaag caacttctgc cctgcaacgc cccccactcc
     4021 atagtctggt attctgagca ctagcttaat atttcttcac ttgaatattc ttatatttta
     4081 ggcatattct ataaatttaa ctgtgttgtt tcttggaaag ttttgtaaaa ttattctggt
     4141 cattcttaat tttactctga aagtgatcat ctttgtatat aacagttcag ataagaaaat
     4201 taaagttact tttctcaa
//
