LOCUS       NM_183241                808 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens PAXX non-homologous end joining factor (PAXX),
            transcript variant 2, mRNA.
ACCESSION   NM_183241 XM_209971
VERSION     NM_183241.3
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 808)
  AUTHORS   Seif-El-Dahan,M., Kefala-Stavridi,A., Frit,P., Hardwick,S.W.,
            Chirgadze,D.Y., Maia De Oliviera,T., Andreani,J., Britton,S.,
            Barboule,N., Bossaert,M., Pandurangan,A.P., Meek,K., Blundell,T.L.,
            Ropars,V., Calsou,P., Charbonnier,J.B. and Chaplin,A.K.
  TITLE     PAXX binding to the NHEJ machinery explains functional redundancy
            with XLF
  JOURNAL   Sci Adv 9 (22), eadg2834 (2023)
   PUBMED   37256950
  REMARK    GeneRIF: PAXX binding to the NHEJ machinery explains functional
            redundancy with XLF.
            Erratum:[Sci Adv. 2023 Sep 29;9(39):eadj8489. doi:
            10.1126/sciadv.adj8489.. PMID: 37774037]
REFERENCE   2  (bases 1 to 808)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 808)
  AUTHORS   Ruis,B., Molan,A., Takasugi,T. and Hendrickson,E.A.
  TITLE     Absence of XRCC4 and its paralogs in human cells reveal differences
            in outcomes for DNA repair and V(D)J recombination
  JOURNAL   DNA Repair (Amst) 85, 102738 (2020)
   PUBMED   31731258
  REMARK    GeneRIF: Absence of XRCC4 and its paralogs in human cells reveal
            differences in outcomes for DNA repair and V(D)J recombination.
REFERENCE   4  (bases 1 to 808)
  AUTHORS   Li,W., Bai,X., Li,J., Zhao,Y., Liu,J., Zhao,H., Liu,L., Ding,M.,
            Wang,Q., Shi,F.Y., Hou,M., Ji,J., Gao,G., Guo,R., Sun,Y., Liu,Y.
            and Xu,D.
  TITLE     The nucleoskeleton protein IFFO1 immobilizes broken DNA and
            suppresses chromosome translocation during tumorigenesis
  JOURNAL   Nat Cell Biol 21 (10), 1273-1285 (2019)
   PUBMED   31548606
REFERENCE   5  (bases 1 to 808)
  AUTHORS   Castaneda-Zegarra,S., Xing,M., Gago-Fuentes,R., Saeterstad,S. and
            Oksenych,V.
  TITLE     Synthetic lethality between DNA repair factors Xlf and Paxx is
            rescued by inactivation of Trp53
  JOURNAL   DNA Repair (Amst) 73, 164-169 (2019)
   PUBMED   30579708
  REMARK    GeneRIF: Synthetic lethality between DNA repair factors Xlf and
            Paxx is rescued by inactivation of Trp53
REFERENCE   6  (bases 1 to 808)
  AUTHORS   Yang,B., Fu,X., Hao,J., Sun,J., Li,Z., Li,H. and Xu,H.
  TITLE     PAXX Participates in Base Excision Repair via Interacting with Pol
            beta and Contributes to TMZ Resistance in Glioma Cells
  JOURNAL   J Mol Neurosci 66 (2), 214-221 (2018)
   PUBMED   30238427
  REMARK    GeneRIF: PAXX contributes to base excision repair pathway via
            interaction of polymerase beta.  PAXX deficiency causes TMZ
            sensitivity.
REFERENCE   7  (bases 1 to 808)
  AUTHORS   Tadi,S.K., Tellier-Lebegue,C., Nemoz,C., Drevet,P., Audebert,S.,
            Roy,S., Meek,K., Charbonnier,J.B. and Modesti,M.
  TITLE     PAXX Is an Accessory c-NHEJ Factor that Associates with Ku70 and
            Has Overlapping Functions with XLF
  JOURNAL   Cell Rep 17 (2), 541-555 (2016)
   PUBMED   27705800
  REMARK    GeneRIF: Although PAXX-deficient cells lack c-NHEJ phenotypes, PAXX
            forms a stable ternary complex with Ku bound to DNA. Thus, PAXX
            plays an accessory role during c-NHEJ that is largely overlapped by
            XLF's function.
REFERENCE   8  (bases 1 to 808)
  AUTHORS   Craxton,A., Somers,J., Munnur,D., Jukes-Jones,R., Cain,K. and
            Malewicz,M.
  TITLE     XLS (c9orf142) is a new component of mammalian DNA double-stranded
            break repair
  JOURNAL   Cell Death Differ 22 (6), 890-897 (2015)
   PUBMED   25941166
REFERENCE   9  (bases 1 to 808)
  AUTHORS   Xing,M., Yang,M., Huo,W., Feng,F., Wei,L., Jiang,W., Ning,S.,
            Yan,Z., Li,W., Wang,Q., Hou,M., Dong,C., Guo,R., Gao,G., Ji,J.,
            Zha,S., Lan,L., Liang,H. and Xu,D.
  TITLE     Interactome analysis identifies a new paralogue of XRCC4 in
            non-homologous end joining DNA repair pathway
  JOURNAL   Nat Commun 6, 6233 (2015)
   PUBMED   25670504
  REMARK    GeneRIF: These data identify PAXX as a new Non-homologous end
            joining factor.
            Publication Status: Online-Only
REFERENCE   10 (bases 1 to 808)
  AUTHORS   Ochi,T., Blackford,A.N., Coates,J., Jhujh,S., Mehmood,S.,
            Tamura,N., Travers,J., Wu,Q., Draviam,V.M., Robinson,C.V.,
            Blundell,T.L. and Jackson,S.P.
  TITLE     DNA repair. PAXX, a paralog of XRCC4 and XLF, interacts with Ku to
            promote DNA double-strand break repair
  JOURNAL   Science 347 (6218), 185-188 (2015)
   PUBMED   25574025
  REMARK    GeneRIF: PAXX promotes Ku-dependent DNA ligation in vitro and
            assembly of core nonhomologous end-joining (NHEJ) factors on
            damaged chromatin in cells. These findings identify PAXX as a new
            component of the NHEJ machinery.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC002613.2.
            
            On Nov 22, 2018 this sequence version replaced NM_183241.2.
            
            Summary: The protein encoded by this gene plays a role in the
            nonhomologous end joining (NHEJ) pathway of DNA double-strand break
            repair. The encoded protein may function to stabilize the Ku70/Ku80
            heterodimer to facilitate the assembly and maintain the stability
            of the NHEJ complex. [provided by RefSeq, Jul 2016].
            
            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 :: BC002613.2, SRR1163657.173889.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000371620.4/ ENSP00000360682.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-808               BC002613.2         5-812
FEATURES             Location/Qualifiers
     source          1..808
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.3"
     gene            1..808
                     /gene="PAXX"
                     /gene_synonym="C9orf142; XLS"
                     /note="PAXX non-homologous end joining factor"
                     /db_xref="GeneID:286257"
                     /db_xref="HGNC:HGNC:27849"
                     /db_xref="MIM:616315"
     exon            1..141
                     /gene="PAXX"
                     /gene_synonym="C9orf142; XLS"
                     /inference="alignment:Splign:2.1.0"
     CDS             23..637
                     /gene="PAXX"
                     /gene_synonym="C9orf142; XLS"
                     /note="isoform 2 is encoded by transcript variant 2;
                     paralog of XRCC4 and XLF; protein PAXX; XRCC4-like small
                     protein"
                     /codon_start=1
                     /product="protein PAXX isoform 2"
                     /protein_id="NP_899064.1"
                     /db_xref="CCDS:CCDS7020.1"
                     /db_xref="GeneID:286257"
                     /db_xref="HGNC:HGNC:27849"
                     /db_xref="MIM:616315"
                     /translation="MDPLSPPLCTLPPGPEPPRFVCYCEGEESGEGDRGGFNLYVTDA
                     AELWSTCFTPDSLAALKARFGLSAAEDITPRFRAACEQQAVALTLQEDRASLTLSGGP
                     SALAFDLSKVPGPEAAPRLRALTLGLAKRVWSLERRLAAAEETAVSPRKSPRPAGPQL
                     FLPDPDPQRGGPGPGVRRRCPGESLINPGFKSKKPAGGVDFDET"
     exon            142..202
                     /gene="PAXX"
                     /gene_synonym="C9orf142; XLS"
                     /inference="alignment:Splign:2.1.0"
     exon            203..252
                     /gene="PAXX"
                     /gene_synonym="C9orf142; XLS"
                     /inference="alignment:Splign:2.1.0"
     exon            253..443
                     /gene="PAXX"
                     /gene_synonym="C9orf142; XLS"
                     /inference="alignment:Splign:2.1.0"
     exon            444..512
                     /gene="PAXX"
                     /gene_synonym="C9orf142; XLS"
                     /inference="alignment:Splign:2.1.0"
     exon            513..597
                     /gene="PAXX"
                     /gene_synonym="C9orf142; XLS"
                     /inference="alignment:Splign:2.1.0"
     exon            598..808
                     /gene="PAXX"
                     /gene_synonym="C9orf142; XLS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      786..791
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PAXX"
                     /gene_synonym="C9orf142; XLS"
                     /note="hexamer: AATAAA"
     polyA_site      808
                     /gene="PAXX"
                     /gene_synonym="C9orf142; XLS"
                     /note="major polyA site"
ORIGIN      
        1 gggttcccgc tcgcccggcg ccatggatcc gctgtcgccg ccgctctgca cgctgccgcc
       61 gggccccgag ccgccccgct tcgtgtgcta ctgcgaaggg gaggaaagcg gggaggggga
      121 ccgcggcggc ttcaacctct acgtgaccga cgccgcggag ctttggagca cctgcttcac
      181 gccggacagc ctggcggccc tcaaagcccg ttttggcctg agtgcggctg aggacatcac
      241 cccccggttc agggcagcct gtgagcagca agctgtggct ctgactctgc aggaggacag
      301 agcatccctg acgctttcag gggggccctc ggcactggcc tttgacctct ccaaggtacc
      361 aggcccagag gcagccccca ggctgcgggc gctgacactg ggcctggcaa aacgcgtgtg
      421 gagcctggag cggcgactgg cagctgcaga agagacagct gtcagcccga ggaagagccc
      481 ccggcctgca gggcctcagc tcttcttacc agacccagat ccccagagag gtggccctgg
      541 acctggagtc aggaggcggt gtccaggaga gtcgctcatc aaccccgggt tcaagagtaa
      601 gaaaccagct ggtggcgtgg acttcgatga gacctgaagg tgcagcacaa gcgtggcccc
      661 gcggggagtc cgcctatgag gggagaggca gtctttgagg cccccatcag agaccccccg
      721 ccaccacctc cacctgcctg tcctgggcca ggactaacac ggctcctcaa attccttccc
      781 tgtcaaataa acagctccct tggttgga
//
