LOCUS       NM_001469               2122 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens X-ray repair cross complementing 6 (XRCC6), transcript
            variant 1, mRNA.
ACCESSION   NM_001469
VERSION     NM_001469.5
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 2122)
  AUTHORS   Bayat,L., Abbasi,S., Balasuriya,N. and Schild-Poulter,C.
  TITLE     Critical residues in the Ku70 von Willebrand A domain mediate Ku
            interaction with the LigIV-XRCC4 complex in non-homologous
            end-joining
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1871 (7), 119815 (2024)
   PUBMED   39151475
  REMARK    GeneRIF: Critical residues in the Ku70 von Willebrand A domain
            mediate Ku interaction with the LigIV-XRCC4 complex in
            non-homologous end-joining.
REFERENCE   2  (bases 1 to 2122)
  AUTHORS   Khoroshkin,M., Buyan,A., Dodel,M., Navickas,A., Yu,J., Trejo,F.,
            Doty,A., Baratam,R., Zhou,S., Lee,S.B., Joshi,T., Garcia,K.,
            Choi,B., Miglani,S., Subramanyam,V., Modi,H., Carpenter,C.,
            Markett,D., Corces,M.R., Mardakheh,F.K., Kulakovskiy,I.V. and
            Goodarzi,H.
  TITLE     Systematic identification of post-transcriptional regulatory
            modules
  JOURNAL   Nat Commun 15 (1), 7872 (2024)
   PUBMED   39251607
  REMARK    Erratum:[Nat Commun. 2024 Oct 28;15(1):9277. doi:
            10.1038/s41467-024-52903-4.. PMID: 39468017]
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2122)
  AUTHORS   Shu,Y., Jin,X., Ji,M., Zhang,Z., Wang,X., Liang,H., Lu,S., Dong,S.,
            Lin,Y., Guo,Y., Zhuang,Q., Wang,Y., Lei,Z., Guo,L., Meng,X.,
            Zhou,G., Zhang,W. and Chang,L.
  TITLE     Ku70 Binding to YAP Alters PARP1 Ubiquitination to Regulate Genome
            Stability and Tumorigenesis
  JOURNAL   Cancer Res 84 (17), 2836-2855 (2024)
   PUBMED   38862269
  REMARK    GeneRIF: Ku70 Binding to YAP Alters PARP1 Ubiquitination to
            Regulate Genome Stability and Tumorigenesis.
REFERENCE   4  (bases 1 to 2122)
  AUTHORS   Lin,Z., Huang,Z., Qiu,J., Shi,Y., Zuo,D., Qiu,Z., He,W., Niu,Y.,
            Yuan,Y. and Li,B.
  TITLE     m6A-mediated lnc-OXAR promotes oxaliplatin resistance by enhancing
            Ku70 stability in non-alcoholic steatohepatitis-related
            hepatocellular carcinoma
  JOURNAL   J Exp Clin Cancer Res 43 (1), 206 (2024)
   PUBMED   39054531
  REMARK    GeneRIF: m[6]A-mediated lnc-OXAR promotes oxaliplatin resistance by
            enhancing Ku70 stability in non-alcoholic steatohepatitis-related
            hepatocellular carcinoma.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2122)
  AUTHORS   Pandey,A., Shen,C., Feng,S., Enosi Tuipulotu,D., Ngo,C., Liu,C.,
            Kurera,M., Mathur,A., Venkataraman,S., Zhang,J., Talaulikar,D.,
            Song,R., Wong,J.J., Teoh,N., Kaakoush,N.O. and Man,S.M.
  TITLE     Ku70 senses cytosolic DNA and assembles a tumor-suppressive
            signalosome
  JOURNAL   Sci Adv 10 (4), eadh3409 (2024)
   PUBMED   38277448
  REMARK    GeneRIF: Ku70 senses cytosolic DNA and assembles a
            tumor-suppressive signalosome.
REFERENCE   6  (bases 1 to 2122)
  AUTHORS   Higashiura,M., Shimizu,Y., Tanimoto,M., Morita,T. and Yagura,T.
  TITLE     Immunolocalization of Ku-proteins (p80/p70): localization of p70 to
            nucleoli and periphery of both interphase nuclei and metaphase
            chromosomes
  JOURNAL   Exp Cell Res 201 (2), 444-451 (1992)
   PUBMED   1639139
REFERENCE   7  (bases 1 to 2122)
  AUTHORS   Griffith,A.J., Craft,J., Evans,J., Mimori,T. and Hardin,J.A.
  TITLE     Nucleotide sequence and genomic structure analyses of the p70
            subunit of the human Ku autoantigen: evidence for a family of genes
            encoding Ku (p70)-related polypeptides
  JOURNAL   Mol Biol Rep 16 (2), 91-97 (1992)
   PUBMED   1608402
REFERENCE   8  (bases 1 to 2122)
  AUTHORS   Wedrychowski,A., Henzel,W., Huston,L., Paslidis,N., Ellerson,D.,
            McRae,M., Seong,D., Howard,O.M. and Deisseroth,A.
  TITLE     Identification of proteins binding to interferon-inducible
            transcriptional enhancers in hematopoietic cells
  JOURNAL   J Biol Chem 267 (7), 4533-4540 (1992)
   PUBMED   1537839
REFERENCE   9  (bases 1 to 2122)
  AUTHORS   Reeves,W.H. and Sthoeger,Z.M.
  TITLE     Molecular cloning of cDNA encoding the p70 (Ku) lupus autoantigen
  JOURNAL   J Biol Chem 264 (9), 5047-5052 (1989)
   PUBMED   2466842
REFERENCE   10 (bases 1 to 2122)
  AUTHORS   Chan,J.Y., Lerman,M.I., Prabhakar,B.S., Isozaki,O., Santisteban,P.,
            Kuppers,R.C., Oates,E.L., Notkins,A.L. and Kohn,L.D.
  TITLE     Cloning and characterization of a cDNA that encodes a 70-kDa novel
            human thyroid autoantigen
  JOURNAL   J Biol Chem 264 (7), 3651-3654 (1989)
   PUBMED   2917966
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK055786.1, BC018259.2 and
            BC012154.2.
            
            On Jun 2, 2019 this sequence version replaced NM_001469.4.
            
            Summary: The p70/p80 autoantigen is a nuclear complex consisting of
            two subunits with molecular masses of approximately 70 and 80 kDa.
            The complex functions as a single-stranded DNA-dependent
            ATP-dependent helicase. The complex may be involved in the repair
            of nonhomologous DNA ends such as that required for double-strand
            break repair, transposition, and V(D)J recombination. High levels
            of autoantibodies to p70 and p80 have been found in some patients
            with systemic lupus erythematosus. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest protein (isoform 1). Variants 1
            and 2 encode the same protein.
            
            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 :: SRR5189658.98803.1,
                                           SRR1803614.280209.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000360079.8/ ENSP00000353192.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-28                AK055786.1         1-28
            29-2101             BC018259.2         1-2073
            2102-2122           BC012154.2         2052-2072
FEATURES             Location/Qualifiers
     source          1..2122
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.2"
     gene            1..2122
                     /gene="XRCC6"
                     /gene_synonym="CTC75; CTCBF; G22P1; KU70; ML8; TLAA"
                     /note="X-ray repair cross complementing 6"
                     /db_xref="GeneID:2547"
                     /db_xref="HGNC:HGNC:4055"
                     /db_xref="MIM:152690"
     exon            1..51
                     /gene="XRCC6"
                     /gene_synonym="CTC75; CTCBF; G22P1; KU70; ML8; TLAA"
                     /inference="alignment:Splign:2.1.0"
     exon            52..148
                     /gene="XRCC6"
                     /gene_synonym="CTC75; CTCBF; G22P1; KU70; ML8; TLAA"
                     /inference="alignment:Splign:2.1.0"
     CDS             67..1896
                     /gene="XRCC6"
                     /gene_synonym="CTC75; CTCBF; G22P1; KU70; ML8; TLAA"
                     /note="isoform 1 is encoded by transcript variant 1;
                     thyroid autoantigen 70kD (Ku antigen); thyroid autoantigen
                     70kDa (Ku antigen); Ku autoantigen, 70kDa; X-ray repair
                     complementing defective repair in Chinese hamster cells 6;
                     ATP-dependent DNA helicase II, 70 kDa subunit; CTC box
                     binding factor 75 kDa subunit; ATP-dependent DNA helicase
                     2 subunit 1; thyroid-lupus autoantigen p70; Ku autoantigen
                     p70 subunit; X-ray repair cross-complementing protein 6;
                     DNA repair protein XRCC6; 70 kDa subunit of Ku antigen;
                     lupus Ku autoantigen protein p70; 5'-dRP lyase Ku70;
                     5'-deoxyribose-5-phosphate lyase Ku70"
                     /codon_start=1
                     /product="X-ray repair cross-complementing protein 6
                     isoform 1"
                     /protein_id="NP_001460.1"
                     /db_xref="CCDS:CCDS14021.1"
                     /db_xref="GeneID:2547"
                     /db_xref="HGNC:HGNC:4055"
                     /db_xref="MIM:152690"
                     /translation="MSGWESYYKTEGDEEAEEEQEENLEASGDYKYSGRDSLIFLVDA
                     SKAMFESQSEDELTPFDMSIQCIQSVYISKIISSDRDLLAVVFYGTEKDKNSVNFKNI
                     YVLQELDNPGAKRILELDQFKGQQGQKRFQDMMGHGSDYSLSEVLWVCANLFSDVQFK
                     MSHKRIMLFTNEDNPHGNDSAKASRARTKAGDLRDTGIFLDLMHLKKPGGFDISLFYR
                     DIISIAEDEDLRVHFEESSKLEDLLRKVRAKETRKRALSRLKLKLNKDIVISVGIYNL
                     VQKALKPPPIKLYRETNEPVKTKTRTFNTSTGGLLLPSDTKRSQIYGSRQIILEKEET
                     EELKRFDDPGLMLMGFKPLVLLKKHHYLRPSLFVYPEESLVIGSSTLFSALLIKCLEK
                     EVAALCRYTPRRNIPPYFVALVPQEEELDDQKIQVTPPGFQLVFLPFADDKRKMPFTE
                     KIMATPEQVGKMKAIVEKLRFTYRSDSFENPVLQQHFRNLEALALDLMEPEQAVDLTL
                     PKVEAMNKRLGSLVDEFKELVYPPDYNPEGKVTKRKHDNEGSGSKRPKVEYSEEELKT
                     HISKGTLGKFTVPMLKEACRAYGLKSGLKKQELLEALTKHFQD"
     exon            149..261
                     /gene="XRCC6"
                     /gene_synonym="CTC75; CTCBF; G22P1; KU70; ML8; TLAA"
                     /inference="alignment:Splign:2.1.0"
     exon            262..400
                     /gene="XRCC6"
                     /gene_synonym="CTC75; CTCBF; G22P1; KU70; ML8; TLAA"
                     /inference="alignment:Splign:2.1.0"
     exon            401..655
                     /gene="XRCC6"
                     /gene_synonym="CTC75; CTCBF; G22P1; KU70; ML8; TLAA"
                     /inference="alignment:Splign:2.1.0"
     exon            656..839
                     /gene="XRCC6"
                     /gene_synonym="CTC75; CTCBF; G22P1; KU70; ML8; TLAA"
                     /inference="alignment:Splign:2.1.0"
     exon            840..1026
                     /gene="XRCC6"
                     /gene_synonym="CTC75; CTCBF; G22P1; KU70; ML8; TLAA"
                     /inference="alignment:Splign:2.1.0"
     exon            1027..1195
                     /gene="XRCC6"
                     /gene_synonym="CTC75; CTCBF; G22P1; KU70; ML8; TLAA"
                     /inference="alignment:Splign:2.1.0"
     exon            1196..1357
                     /gene="XRCC6"
                     /gene_synonym="CTC75; CTCBF; G22P1; KU70; ML8; TLAA"
                     /inference="alignment:Splign:2.1.0"
     exon            1358..1487
                     /gene="XRCC6"
                     /gene_synonym="CTC75; CTCBF; G22P1; KU70; ML8; TLAA"
                     /inference="alignment:Splign:2.1.0"
     exon            1488..1588
                     /gene="XRCC6"
                     /gene_synonym="CTC75; CTCBF; G22P1; KU70; ML8; TLAA"
                     /inference="alignment:Splign:2.1.0"
     exon            1589..1702
                     /gene="XRCC6"
                     /gene_synonym="CTC75; CTCBF; G22P1; KU70; ML8; TLAA"
                     /inference="alignment:Splign:2.1.0"
     exon            1703..2122
                     /gene="XRCC6"
                     /gene_synonym="CTC75; CTCBF; G22P1; KU70; ML8; TLAA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2096..2101
                     /regulatory_class="polyA_signal_sequence"
                     /gene="XRCC6"
                     /gene_synonym="CTC75; CTCBF; G22P1; KU70; ML8; TLAA"
                     /note="hexamer: AATAAA"
     polyA_site      2122
                     /gene="XRCC6"
                     /gene_synonym="CTC75; CTCBF; G22P1; KU70; ML8; TLAA"
                     /note="major polyA site"
ORIGIN      
        1 atgcgtggat tgtcgtcttc tgtccaagtt ggtcgcttcc ctgcgccaaa gtgagcagta
       61 gccaacatgt cagggtggga gtcatattac aaaaccgagg gcgatgaaga agcagaggaa
      121 gaacaagaag agaaccttga agcaagtgga gactataaat attcaggaag agatagtttg
      181 atttttttgg ttgatgcctc caaggctatg tttgaatctc agagtgaaga tgagttgaca
      241 ccttttgaca tgagcatcca gtgtatccaa agtgtgtaca tcagtaagat cataagcagt
      301 gatcgagatc tcttggctgt ggtgttctat ggtaccgaga aagacaaaaa ttcagtgaat
      361 tttaaaaata tttacgtctt acaggagctg gataatccag gtgcaaaacg aattctagag
      421 cttgaccagt ttaaggggca gcagggacaa aaacgtttcc aagacatgat gggccacgga
      481 tctgactact cactcagtga agtgctgtgg gtctgtgcca acctctttag tgatgtccaa
      541 ttcaagatga gtcataagag gatcatgctg ttcaccaatg aagacaaccc ccatggcaat
      601 gacagtgcca aagccagccg ggccaggacc aaagccggtg atctccgaga tacaggcatc
      661 ttccttgact tgatgcacct gaagaaacct gggggctttg acatatcctt gttctacaga
      721 gatatcatca gcatagcaga ggatgaggac ctcagggttc actttgagga atccagcaag
      781 ctagaagacc tgttgcggaa ggttcgcgcc aaggagacca ggaagcgagc actcagcagg
      841 ttaaagctga agctcaacaa agatatagtg atctctgtgg gcatttataa tctggtccag
      901 aaggctctca agcctcctcc aataaagctc tatcgggaaa caaatgaacc agtgaaaacc
      961 aagacccgga cctttaatac aagtacaggc ggtttgcttc tgcctagcga taccaagagg
     1021 tctcagatct atgggagtcg tcagattata ctggagaaag aggaaacaga agagctaaaa
     1081 cggtttgatg atccaggttt gatgctcatg ggtttcaagc cgttggtact gctgaagaaa
     1141 caccattacc tgaggccctc cctgttcgtg tacccagagg agtcgctggt gattgggagc
     1201 tcaaccctgt tcagtgctct gctcatcaag tgtctggaga aggaggttgc agcattgtgc
     1261 agatacacac cccgcaggaa catccctcct tattttgtgg ctttggtgcc acaggaagaa
     1321 gagttggatg accagaaaat tcaggtgact cctccaggct tccagctggt ctttttaccc
     1381 tttgctgatg ataaaaggaa gatgcccttt actgaaaaaa tcatggcaac tccagagcag
     1441 gtgggcaaga tgaaggctat cgttgagaag cttcgcttca catacagaag tgacagcttt
     1501 gagaaccccg tgctgcagca gcacttcagg aacctggagg ccttggcctt ggatttgatg
     1561 gagccggaac aagcagtgga cctgacattg cccaaggttg aagcaatgaa taaaagactg
     1621 ggctccttgg tggatgagtt taaggagctt gtttacccac cagattacaa tcctgaaggg
     1681 aaagttacca agagaaaaca cgataatgaa ggttctggaa gcaaaaggcc caaggtggag
     1741 tattcagaag aggagctgaa gacccacatc agcaagggta cgctgggcaa gttcactgtg
     1801 cccatgctga aagaggcctg ccgggcttac gggctgaaga gtgggctgaa gaagcaggag
     1861 ctgctggaag ccctcaccaa gcacttccag gactgaccag aggccgcgcg tccagctgcc
     1921 cttccgcagt gtggccaggc tgcctggcct tgtcctcagc cagttaaaat gtgtttctcc
     1981 tgagctagga agagtctacc cgacataagt cgagggactt tatgtttttg aggctttctg
     2041 ttgccatggt gatggtgtag ccctcccact ttgctgttcc ttactttact gcctgaataa
     2101 agagccctaa gtttgtacta ta
//
