LOCUS       NM_153557                919 bp    mRNA    linear   ROD 02-MAY-2024
DEFINITION  Mus musculus non-homologous end joining factor (Paxx), mRNA.
ACCESSION   NM_153557
VERSION     NM_153557.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 919)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 919)
  AUTHORS   Roch,B., Abramowski,V., Etienne,O., Musilli,S., David,P.,
            Charbonnier,J.B., Callebaut,I., Boussin,F.D. and de Villartay,J.P.
  TITLE     An XRCC4 mutant mouse, a model for human X4 syndrome, reveals
            interplays with Xlf, PAXX, and ATM in lymphoid development
  JOURNAL   Elife 10, e69353 (2021)
   PUBMED   34519267
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 919)
  AUTHORS   Bedogni,F. and Hevner,R.F.
  TITLE     Cell-Type-Specific Gene Expression in Developing Mouse Neocortex:
            Intermediate Progenitors Implicated in Axon Development
  JOURNAL   Front Mol Neurosci 14, 686034 (2021)
   PUBMED   34321999
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 919)
  AUTHORS   Gago-Fuentes,R. and Oksenych,V.
  TITLE     Non-Homologous End Joining Factors XLF, PAXX and DNA-PKcs Maintain
            the Neural Stem and Progenitor Cell Population
  JOURNAL   Biomolecules 11 (1), 20 (2020)
   PUBMED   33379193
  REMARK    GeneRIF: Non-Homologous End Joining Factors XLF, PAXX and DNA-PKcs
            Maintain the Neural Stem and Progenitor Cell Population.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 919)
  AUTHORS   Castaneda-Zegarra,S., Zhang,Q., Alirezaylavasani,A.,
            Fernandez-Berrocal,M., Yao,R. and Oksenych,V.
  TITLE     Leaky severe combined immunodeficiency in mice lacking
            non-homologous end joining factors XLF and MRI
  JOURNAL   Aging (Albany NY) 12 (23), 23578-23597 (2020)
   PUBMED   33289702
REFERENCE   6  (bases 1 to 919)
  AUTHORS   Abramowski,V., Etienne,O., Elsaid,R., Yang,J., Berland,A.,
            Kermasson,L., Roch,B., Musilli,S., Moussu,J.P., Lipson-Ruffert,K.,
            Revy,P., Cumano,A., Boussin,F.D. and de Villartay,J.P.
  TITLE     PAXX and Xlf interplay revealed by impaired CNS development and
            immunodeficiency of double KO mice
  JOURNAL   Cell Death Differ 25 (2), 444-452 (2018)
   PUBMED   29077092
REFERENCE   7  (bases 1 to 919)
  AUTHORS   Hung,P.J., Chen,B.R., George,R., Liberman,C., Morales,A.J.,
            Colon-Ortiz,P., Tyler,J.K., Sleckman,B.P. and Bredemeyer,A.L.
  TITLE     Deficiency of XLF and PAXX prevents DNA double-strand break repair
            by non-homologous end joining in lymphocytes
  JOURNAL   Cell Cycle 16 (3), 286-295 (2017)
   PUBMED   27830975
  REMARK    GeneRIF: PAXX and XLF proteins may have redundant functions during
            Non-homologous end joining.
REFERENCE   8  (bases 1 to 919)
  AUTHORS   Liu,X., Shao,Z., Jiang,W., Lee,B.J. and Zha,S.
  TITLE     PAXX promotes KU accumulation at DNA breaks and is essential for
            end-joining in XLF-deficient mice
  JOURNAL   Nat Commun 8, 13816 (2017)
   PUBMED   28051062
  REMARK    GeneRIF: Study reports that PAXX is dispensable for physiological
            non-homologous end-joining (NHEJ) in otherwise wild-type mice. Yet
            Paxx(-/-) mice require XLF and Xlf(-/-) mice require PAXX for
            end-ligation revealing distinct, yet critically complementary
            functions of PAXX and XLF during NHEJ.
            Publication Status: Online-Only
REFERENCE   9  (bases 1 to 919)
  AUTHORS   Balmus,G., Barros,A.C., Wijnhoven,P.W., Lescale,C., Hasse,H.L.,
            Boroviak,K., le Sage,C., Doe,B., Speak,A.O., Galli,A., Jacobsen,M.,
            Deriano,L., Adams,D.J., Blackford,A.N. and Jackson,S.P.
  TITLE     Synthetic lethality between PAXX and XLF in mammalian development
  JOURNAL   Genes Dev 30 (19), 2152-2157 (2016)
   PUBMED   27798842
  REMARK    GeneRIF: Paxx/Xlf double-knockout mice display embryonic lethality
            associated with genomic instability, cell death in the central
            nervous system, and an almost complete block in lymphogenesis
REFERENCE   10 (bases 1 to 919)
  AUTHORS   Kumar,V., Alt,F.W. and Frock,R.L.
  TITLE     PAXX and XLF DNA repair factors are functionally redundant in
            joining DNA breaks in a G1-arrested progenitor B-cell line
  JOURNAL   Proc Natl Acad Sci U S A 113 (38), 10619-10624 (2016)
   PUBMED   27601633
  REMARK    GeneRIF: we also find that PAXX deficiency has no impact on V(D)J
            recombination DSB joining in ATM-deficient pro-B lines. We discuss
            implications of these findings with respect to potential PAXX and
            XLF functions in C-NHEJ.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL732557.4.
            
            On Jan 6, 2022 this sequence version replaced NM_153557.1.
            
            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 :: BC029214.1, BI150822.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN01164131, SAMN01164139
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-248               AL732557.4         133560-133807       c
            249-309             AL732557.4         133428-133488       c
            310-359             AL732557.4         133218-133267       c
            360-550             AL732557.4         132940-133130       c
            551-616             AL732557.4         132782-132847       c
            617-701             AL732557.4         132548-132632       c
            702-919             AL732557.4         132257-132474       c
FEATURES             Location/Qualifiers
     source          1..919
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="2"
                     /map="2 17.27 cM"
     gene            1..919
                     /gene="Paxx"
                     /gene_synonym="D930050G13Rik"
                     /note="non-homologous end joining factor"
                     /db_xref="GeneID:227622"
                     /db_xref="MGI:MGI:2442831"
     exon            1..248
                     /gene="Paxx"
                     /gene_synonym="D930050G13Rik"
                     /inference="alignment:Splign:2.1.0"
     CDS             124..741
                     /gene="Paxx"
                     /gene_synonym="D930050G13Rik"
                     /note="paralog of XRCC4 and XLF"
                     /codon_start=1
                     /product="protein PAXX"
                     /protein_id="NP_705785.1"
                     /db_xref="CCDS:CCDS15775.1"
                     /db_xref="GeneID:227622"
                     /db_xref="MGI:MGI:2442831"
                     /translation="MAPPLLSLPLCILPPGSGSPRLVCYCERDSGGDGDRDDFNLYVT
                     DAAELWSTCFSPDSLARLKARFGLSGAEDIHSRFRAACQQQAVTVSLQEDRALITLSG
                     DTPALAFDLSKVPSPEAAPRLQALTLSLAEHVCNLERRLAAAEETITSPKKNTQPAGT
                     QFLPELDHQRGSSGPGVRRRCPGESLINPGFKSKKPAAGVDFDET"
     exon            249..309
                     /gene="Paxx"
                     /gene_synonym="D930050G13Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            310..359
                     /gene="Paxx"
                     /gene_synonym="D930050G13Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            360..550
                     /gene="Paxx"
                     /gene_synonym="D930050G13Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            551..616
                     /gene="Paxx"
                     /gene_synonym="D930050G13Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            617..701
                     /gene="Paxx"
                     /gene_synonym="D930050G13Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            702..919
                     /gene="Paxx"
                     /gene_synonym="D930050G13Rik"
                     /inference="alignment:Splign:2.1.0"
     regulatory      885..890
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Paxx"
                     /gene_synonym="D930050G13Rik"
                     /note="hexamer: AATAAA"
     polyA_site      919
                     /gene="Paxx"
                     /gene_synonym="D930050G13Rik"
                     /note="major polyA site"
ORIGIN      
        1 agaaaccaga agttccgccg ccgagcgaac accttagatt gtgagtcacc gagtttgtac
       61 ttctgcgcag gcgccctcag cccacatcta acttggctcc tgcggcgaga ccgccctgct
      121 gtcatggctc ctccgttgtt gtcgctgccg ctttgtattc tgccgccggg ttcgggctcc
      181 ccccgcctgg tgtgctactg cgagcgggat agtggtggag acggggaccg cgacgacttc
      241 aacctctatg tgacggacgc cgccgagctc tggagcacct gcttctcgcc tgacagcctg
      301 gcgaggctca aagcccgatt tggcctaagt ggggctgaag atatccattc ccggttcagg
      361 gcagcctgcc aacagcaggc agtaactgta agcctgcaag aagacagagc attgataacc
      421 ctttcagggg atacccctgc cctggccttt gacctctcca aggtgcccag cccggaggca
      481 gcccccaggc tgcaggcttt gactctcagc ctggcagagc atgtatgcaa cctagagagg
      541 cggctggcag ctgcagaaga gaccatcact agccccaaga agaacaccca gccagcaggc
      601 actcagttct taccagaact tgatcaccag agaggcagct ctgggcctgg ggtcaggaga
      661 cggtgtccag gggagtctct cattaaccct ggcttcaaaa gtaagaaacc agctgctggt
      721 gtagactttg atgagacctg aggacagcaa agcctgttac ttggccagga gcctgcctgc
      781 aaggaaaggg gagatctagg accccctaat cagagacacc ccttgcttca cttcccctgt
      841 ggtcctgctg ttgggcaaag gtgcctctca tcccttctcc gtcaaataaa ctgctccctc
      901 ggggagagat gctaggcca
//
