LOCUS       NM_003401               1602 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens X-ray repair cross complementing 4 (XRCC4), transcript
            variant 1, mRNA.
ACCESSION   NM_003401
VERSION     NM_003401.5
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 1602)
  AUTHORS   Vu,D.D., Bonucci,A., Breniere,M., Cisneros-Aguirre,M.,
            Pelupessy,P., Wang,Z., Carlier,L., Bouvignies,G., Cortes,P.,
            Aggarwal,A.K., Blackledge,M., Gueroui,Z., Belle,V., Stark,J.M.,
            Modesti,M. and Ferrage,F.
  TITLE     Multivalent interactions of the disordered regions of XLF and XRCC4
            foster robust cellular NHEJ and drive the formation of
            ligation-boosting condensates in vitro
  JOURNAL   Nat Struct Mol Biol 31 (11), 1732-1744 (2024)
   PUBMED   38898102
REFERENCE   2  (bases 1 to 1602)
  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   3  (bases 1 to 1602)
  AUTHORS   Sergeeva,S.V., Loshchenova,P.S., Oshchepkov,D.Y. and
            Orishchenko,K.E.
  TITLE     Crosstalk between BER and NHEJ in XRCC4-Deficient Cells Depending
            on hTERT Overexpression
  JOURNAL   Int J Mol Sci 25 (19), 10405 (2024)
   PUBMED   39408734
  REMARK    GeneRIF: Crosstalk between BER and NHEJ in XRCC4-Deficient Cells
            Depending on hTERT Overexpression.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1602)
  AUTHORS   Lee,C.Y., Hubrich,D., Varga,J.K., Schafer,C., Welzel,M.,
            Schumbera,E., Djokic,M., Strom,J.M., Schonfeld,J., Geist,J.L.,
            Polat,F., Gibson,T.J., Keller Valsecchi,C.I., Kumar,M.,
            Schueler-Furman,O. and Luck,K.
  TITLE     Systematic discovery of protein interaction interfaces using
            AlphaFold and experimental validation
  JOURNAL   Mol Syst Biol 20 (2), 75-97 (2024)
   PUBMED   38225382
REFERENCE   5  (bases 1 to 1602)
  AUTHORS   Chen,Y., Zhen,Z., Chen,L., Wang,H., Wang,X., Sun,X., Song,Z.,
            Wang,H., Lin,Y., Zhang,W., Wu,G., Jiang,Y. and Mao,Z.
  TITLE     Androgen signaling stabilizes genomes to counteract senescence by
            promoting XRCC4 transcription
  JOURNAL   EMBO Rep 24 (12), e56984 (2023)
   PUBMED   37955230
  REMARK    GeneRIF: Androgen signaling stabilizes genomes to counteract
            senescence by promoting XRCC4 transcription.
REFERENCE   6  (bases 1 to 1602)
  AUTHORS   Critchlow,S.E., Bowater,R.P. and Jackson,S.P.
  TITLE     Mammalian DNA double-strand break repair protein XRCC4 interacts
            with DNA ligase IV
  JOURNAL   Curr Biol 7 (8), 588-598 (1997)
   PUBMED   9259561
REFERENCE   7  (bases 1 to 1602)
  AUTHORS   Grawunder,U., Wilm,M., Wu,X., Kulesza,P., Wilson,T.E., Mann,M. and
            Lieber,M.R.
  TITLE     Activity of DNA ligase IV stimulated by complex formation with
            XRCC4 protein in mammalian cells
  JOURNAL   Nature 388 (6641), 492-495 (1997)
   PUBMED   9242410
REFERENCE   8  (bases 1 to 1602)
  AUTHORS   Li,Z., Otevrel,T., Gao,Y., Cheng,H.L., Seed,B., Stamato,T.D.,
            Taccioli,G.E. and Alt,F.W.
  TITLE     The XRCC4 gene encodes a novel protein involved in DNA
            double-strand break repair and V(D)J recombination
  JOURNAL   Cell 83 (7), 1079-1089 (1995)
   PUBMED   8548796
REFERENCE   9  (bases 1 to 1602)
  AUTHORS   Otevrel,T. and Stamato,T.D.
  TITLE     Regional localization of the XRCC4 human radiation repair gene
  JOURNAL   Genomics 27 (1), 211-214 (1995)
   PUBMED   7665175
REFERENCE   10 (bases 1 to 1602)
  AUTHORS   Giaccia,A.J., Denko,N., MacLaren,R., Mirman,D., Waldren,C., Hart,I.
            and Stamato,T.D.
  TITLE     Human chromosome 5 complements the DNA double-strand break-repair
            deficiency and gamma-ray sensitivity of the XR-1 hamster variant
  JOURNAL   Am J Hum Genet 47 (3), 459-469 (1990)
   PUBMED   1697445
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA067761.1, BT007216.1,
            U40622.1, BC016314.1 and BC010655.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_003401.4.
            
            Summary: The protein encoded by this gene functions together with
            DNA ligase IV and the DNA-dependent protein kinase in the repair of
            DNA double-strand breaks. This protein plays a role in both
            non-homologous end joining and the completion of V(D)J
            recombination. Mutations in this gene can cause short stature,
            microcephaly, and endocrine dysfunction (SSMED). Alternate
            transcript variants such as NM_022406 are unlikely to be expressed
            in some individuals due to a polymorphism (rs1805377) in the last
            splice acceptor site. [provided by RefSeq, Oct 2019].
            
            Transcript Variant: This variant (1) encodes isoform 1. Variants 1
            and 3 encode the same 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 :: SRR3476690.697385.1,
                                           SRR5189658.95171.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA2144333
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000396027.9/ ENSP00000379344.4
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-79                DA067761.1         146-224
            80-972              BT007216.1         1-893
            973-999             U40622.1           944-970
            1000-1443           BC016314.1         1011-1454
            1444-1602           BC010655.1         736-894
FEATURES             Location/Qualifiers
     source          1..1602
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q14.2"
     gene            1..1602
                     /gene="XRCC4"
                     /gene_synonym="hXRCC4; SSMED"
                     /note="X-ray repair cross complementing 4"
                     /db_xref="GeneID:7518"
                     /db_xref="HGNC:HGNC:12831"
                     /db_xref="MIM:194363"
     exon            1..69
                     /gene="XRCC4"
                     /gene_synonym="hXRCC4; SSMED"
                     /inference="alignment:Splign:2.1.0"
     exon            70..218
                     /gene="XRCC4"
                     /gene_synonym="hXRCC4; SSMED"
                     /inference="alignment:Splign:2.1.0"
     CDS             80..1084
                     /gene="XRCC4"
                     /gene_synonym="hXRCC4; SSMED"
                     /note="isoform 1 is encoded by transcript variant 1; DNA
                     repair protein XRCC4; X-ray repair complementing defective
                     repair in Chinese hamster cells 4"
                     /codon_start=1
                     /product="DNA repair protein XRCC4 isoform 1"
                     /protein_id="NP_003392.1"
                     /db_xref="CCDS:CCDS4058.1"
                     /db_xref="GeneID:7518"
                     /db_xref="HGNC:HGNC:12831"
                     /db_xref="MIM:194363"
                     /translation="MERKISRIHLVSEPSITHFLQVSWEKTLESGFVITLTDGHSAWT
                     GTVSESEISQEADDMAMEKGKYVGELRKALLSGAGPADVYTFNFSKESCYFFFEKNLK
                     DVSFRLGSFNLEKVENPAEVIRELICYCLDTIAENQAKNEHLQKENERLLRDWNDVQG
                     RFEKCVSAKEALETDLYKRFILVLNEKKTKIRSLHNKLLNAAQEREKDIKQEGETAIC
                     SEMTADRDPVYDESTDEESENQTDLSGLASAAVSKDDSIISSLDVTDIAPSRKRRQRM
                     QRNLGTEPKMAPQENQLQEKEKPDSSLPETSKKEHISAENMSLETLRNSSPEDLFDEI
                     "
     exon            219..394
                     /gene="XRCC4"
                     /gene_synonym="hXRCC4; SSMED"
                     /inference="alignment:Splign:2.1.0"
     exon            395..561
                     /gene="XRCC4"
                     /gene_synonym="hXRCC4; SSMED"
                     /inference="alignment:Splign:2.1.0"
     exon            562..717
                     /gene="XRCC4"
                     /gene_synonym="hXRCC4; SSMED"
                     /inference="alignment:Splign:2.1.0"
     exon            718..824
                     /gene="XRCC4"
                     /gene_synonym="hXRCC4; SSMED"
                     /inference="alignment:Splign:2.1.0"
     exon            825..972
                     /gene="XRCC4"
                     /gene_synonym="hXRCC4; SSMED"
                     /inference="alignment:Splign:2.1.0"
     exon            973..1602
                     /gene="XRCC4"
                     /gene_synonym="hXRCC4; SSMED"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1580..1585
                     /regulatory_class="polyA_signal_sequence"
                     /gene="XRCC4"
                     /gene_synonym="hXRCC4; SSMED"
                     /note="hexamer: AATAAA"
     polyA_site      1602
                     /gene="XRCC4"
                     /gene_synonym="hXRCC4; SSMED"
                     /note="major polyA site"
ORIGIN      
        1 attggttgca aaaccttgat ctgtgaaagc gggcgttttg gaagataccg gaagtagagt
       61 cacggagagg tattaagaaa tggagagaaa aataagcaga atccaccttg tttctgaacc
      121 cagtataact cattttctac aagtatcttg ggagaaaaca ctggaatctg gttttgttat
      181 tacacttact gatggtcatt cagcatggac tgggacagtt tctgaatcag agatttccca
      241 agaagctgat gacatggcaa tggaaaaagg gaaatatgtt ggtgaactga gaaaagcatt
      301 gttgtcagga gcaggaccag ctgatgtata cacgtttaat ttttctaaag agtcttgtta
      361 tttcttcttt gagaaaaacc tgaaagatgt ctcattcaga cttggttcct tcaacctaga
      421 gaaagttgaa aacccagctg aagtcattag agaacttatt tgttattgct tggacaccat
      481 tgcagaaaat caagccaaaa atgagcacct gcagaaagaa aatgaaaggc ttctgagaga
      541 ttggaatgat gttcaaggac gatttgaaaa atgtgtgagt gctaaggaag ctttggagac
      601 tgatctttat aagcggttta ttctggtgtt gaatgagaag aaaacaaaaa tcagaagttt
      661 gcataataaa ttattaaatg cagctcaaga acgagaaaag gacatcaaac aagaagggga
      721 aactgcaatc tgttctgaaa tgactgctga ccgagatcca gtctatgatg agagtactga
      781 tgaggaaagt gaaaaccaaa ctgatctctc tgggttggct tcagctgctg taagtaaaga
      841 tgattccatt atttcaagtc ttgatgtcac tgatattgca ccaagtagaa aaaggagaca
      901 gcgaatgcaa agaaatcttg ggacagaacc taaaatggct cctcaggaga atcagcttca
      961 agaaaaggaa aagcctgatt cttcactacc tgagacgtct aaaaaggagc acatctcagc
     1021 tgaaaacatg tctttagaaa ctctgagaaa cagcagccca gaagacctct ttgatgagat
     1081 ttaacagtct caaaaaatac tttgatgttc actagactat gttttctatt catttcttta
     1141 aaatgaaaaa ggagaatttc aagtcagcag ccgctattac cgtatcttac aatttaatta
     1201 catacacagt gaattgaaac cattgtgcaa aatggattac acatgtatac aaagatacga
     1261 tttgatgatg acactggcac attattctaa actattcatt cagcatgcct ataattacat
     1321 aaattgtatg agactttttg ttgcaaagga cacatttatc atattcattc acacatatta
     1381 tatgtgatag ctgtccaaca tcctgtctgg gaagattttg aaaacaggac aaagaaaaca
     1441 tcattttaaa atgtcttcag ctttttttga atagacgtat tcaaacatat tctgaacatt
     1501 gatgtttgaa cattttaatt tgtgtgatga tgtagaaaat ataattttag tttgtacata
     1561 aacattgtga aaatctgata ataaaatttt tgatacattg aa
//
