LOCUS       NM_001346953            1899 bp    mRNA    linear   PRI 10-JUN-2024
DEFINITION  Homo sapiens exonuclease 5 (EXO5), transcript variant 9, mRNA.
ACCESSION   NM_001346953 XM_005271125
VERSION     NM_001346953.2
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 1899)
  AUTHORS   Hambarde,S., Tsai,C.L., Pandita,R.K., Bacolla,A., Maitra,A.,
            Charaka,V., Hunt,C.R., Kumar,R., Limbo,O., Le Meur,R., Chazin,W.J.,
            Tsutakawa,S.E., Russell,P., Schlacher,K., Pandita,T.K. and
            Tainer,J.A.
  TITLE     EXO5-DNA structure and BLM interactions direct DNA resection
            critical for ATR-dependent replication restart
  JOURNAL   Mol Cell 81 (14), 2989-3006 (2021)
   PUBMED   34197737
  REMARK    GeneRIF: EXO5-DNA structure and BLM interactions direct DNA
            resection critical for ATR-dependent replication restart.
REFERENCE   2  (bases 1 to 1899)
  AUTHORS   Ali,S., Zhang,Y., Zhou,M., Li,H., Jin,W., Zheng,L., Yu,X.,
            Stark,J.M., Weitzel,J.N. and Shen,B.
  TITLE     Functional deficiency of DNA repair gene EXO5 results in
            androgen-induced genomic instability and prostate tumorigenesis
  JOURNAL   Oncogene 39 (6), 1246-1259 (2020)
   PUBMED   31616062
  REMARK    GeneRIF: Functional deficiency of DNA repair gene EXO5 results in
            androgen-induced genomic instability and prostate tumorigenesis.
REFERENCE   3  (bases 1 to 1899)
  AUTHORS   Paumard-Hernandez,B., Calvete,O., Inglada Perez,L., Tejero,H.,
            Al-Shahrour,F., Pita,G., Barroso,A., Carlos Trivino,J., Urioste,M.,
            Valverde,C., Gonzalez Billalabeitia,E., Quiroga,V., Francisco
            Rodriguez Moreno,J., Fernandez Aramburo,A., Lopez,C., Maroto,P.,
            Sastre,J., Jose Juan Fita,M., Duran,I., Lorenzo-Lorenzo,I.,
            Iranzo,P., Garcia Del Muro,X., Ros,S., Zambrana,F., Maria Autran,A.
            and Benitez,J.
  TITLE     Whole exome sequencing identifies PLEC, EXO5 and DNAH7 as novel
            susceptibility genes in testicular cancer
  JOURNAL   Int J Cancer 143 (8), 1954-1962 (2018)
   PUBMED   29761480
  REMARK    GeneRIF: Three of them [PLEC (OR = 6.28, p = 6.42 x 10(-23) )
            (p.Arg2016Trp), EXO5 (OR = 3.37, p = 4.82 x 10(-09) )
            (p.Arg344AlafsTer10) and DNAH7 (OR = 1.64, p = 0.048)] were
            replicated as potential candidates.
REFERENCE   4  (bases 1 to 1899)
  AUTHORS   Sparks,J.L., Kumar,R., Singh,M., Wold,M.S., Pandita,T.K. and
            Burgers,P.M.
  TITLE     Human exonuclease 5 is a novel sliding exonuclease required for
            genome stability
  JOURNAL   J Biol Chem 287 (51), 42773-42783 (2012)
   PUBMED   23095756
  REMARK    GeneRIF: The human homolog (C1orf176; EXO5) that functions in the
            repair of nuclear DNA damage.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL603839.9.
            
            On Aug 14, 2020 this sequence version replaced NM_001346953.1.
            
            Summary: The protein encoded by this gene is a single-stranded DNA
            (ssDNA)-specific exonuclease that can slide along the DNA before
            cutting it. However, human replication protein A binds ssDNA and
            restricts sliding of the encoded protein, providing a
            5'-directionality to the enzyme. This protein localizes to nuclear
            repair loci after DNA damage. [provided by RefSeq, Nov 2016].
            
            Transcript Variant: This variant (9) differs in the 5' UTR compared
            to variant 1. All variants encode the same protein.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.225947.1,
                                           SRR5189655.77321.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000415550.6/ ENSP00000413565.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-142               AL603839.9         43793-43934
            143-317             AL603839.9         44477-44651
            318-375             AL603839.9         44759-44816
            376-1899            AL603839.9         49541-51064
FEATURES             Location/Qualifiers
     source          1..1899
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.2"
     gene            1..1899
                     /gene="EXO5"
                     /gene_synonym="C1orf176; DEM1; Exo V; hExo5"
                     /note="exonuclease 5"
                     /db_xref="GeneID:64789"
                     /db_xref="HGNC:HGNC:26115"
                     /db_xref="MIM:618601"
     exon            1..142
                     /gene="EXO5"
                     /gene_synonym="C1orf176; DEM1; Exo V; hExo5"
                     /inference="alignment:Splign:2.1.0"
     exon            143..317
                     /gene="EXO5"
                     /gene_synonym="C1orf176; DEM1; Exo V; hExo5"
                     /inference="alignment:Splign:2.1.0"
     exon            318..375
                     /gene="EXO5"
                     /gene_synonym="C1orf176; DEM1; Exo V; hExo5"
                     /inference="alignment:Splign:2.1.0"
     exon            376..1899
                     /gene="EXO5"
                     /gene_synonym="C1orf176; DEM1; Exo V; hExo5"
                     /inference="alignment:Splign:2.1.0"
     CDS             406..1527
                     /gene="EXO5"
                     /gene_synonym="C1orf176; DEM1; Exo V; hExo5"
                     /note="defects in morphology protein 1 homolog; probable
                     exonuclease V; defects in morphology 1 homolog"
                     /codon_start=1
                     /product="exonuclease V"
                     /protein_id="NP_001333882.1"
                     /db_xref="CCDS:CCDS453.1"
                     /db_xref="GeneID:64789"
                     /db_xref="HGNC:HGNC:26115"
                     /db_xref="MIM:618601"
                     /translation="MAETREEETVSAEASGFSDLSDSEFLEFLDLEDAQESKALVNMP
                     GPSSESLGKDDKPISLQNWKRGLDILSPMERFHLKYLYVTDLATQNWCELQTAYGKEL
                     PGFLAPEKAAVLDTGASIHLARELELHDLVTVPVTTKEDAWAIKFLNILLLIPTLQSE
                     GHIREFPVFGEGEGVLLVGVIDELHYTAKGELELAELKTRRRPMLPLEAQKKKDCFQV
                     SLYKYIFDAMVQGKVTPASLIHHTKLCLEKPLGPSVLRHAQQGGFSVKSLGDLMELVF
                     LSLTLSDLPVIDILKIEYIHQETATVLGTEIVAFKEKEVRAKVQHYMAYWMGHREPQG
                     VDVEEAWKCRTCTYADICEWRKGSGVLSSTLAPQVKKAK"
     regulatory      1876..1881
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EXO5"
                     /gene_synonym="C1orf176; DEM1; Exo V; hExo5"
                     /note="hexamer: AATAAA"
     polyA_site      1899
                     /gene="EXO5"
                     /gene_synonym="C1orf176; DEM1; Exo V; hExo5"
                     /note="major polyA site"
ORIGIN      
        1 gcgagtggcg ggccgactgt gtagtccgct ccggcagcgc gctctgcccg gcttcctcag
       61 tctcctcgcc gggagcgtcc gggagcagct ccgaggccgc ggcgaaacca ggtggagtcc
      121 gaggttcgga ggagtatcag agggagcagg gattggatca agtcattgca tctagagtac
      181 gggggaacga agaaatcatg gagagagttt gccccaggag agaggcgagc gttatgtaac
      241 ctaggatctg gggtgggtaa cagtctgtgc agtgtcaatg tgagaggaga aaacacccaa
      301 cgtgagggaa tggtcagcct tgtcatttca gcattctggc cttccctatg aggaggaaga
      361 tcaacgaagt cacagggccc ttctagccca atccagagct gtaccatggc agagacaaga
      421 gaagaggaga cagtgtcagc agaagcctca gggttctcag acttgagtga ctcagagttc
      481 ctggagtttc tggacctaga agatgcccaa gagtcaaagg ctttagttaa catgcctggc
      541 ccatcttctg aatcccttgg gaaggatgac aaacccataa gcttacaaaa ctggaaaaga
      601 ggattggata tattatcacc catggagaga ttccacctta aatatttata tgtcactgac
      661 ctggctactc agaactggtg tgaactgcaa acagcatatg ggaaggagct tcctggtttc
      721 ttggcacctg agaaggcagc tgtgttggac actggtgcca gcatacacct agctagagaa
      781 ctagaacttc atgatcttgt gactgtccca gtcaccacta aagaagatgc ttgggcaatt
      841 aagtttctga acatactttt gctgattcct accctgcagt cagaagggca catcagagag
      901 tttccagtgt ttggggaagg ggagggtgta cttcttgttg gagtgattga tgagctgcac
      961 tatacagcca agggggaact ggagctggcg gaactcaaga cacgcaggcg ccctatgctc
     1021 cctctggaag ctcagaagaa gaaagactgt tttcaagtca gcctatacaa atatatcttt
     1081 gatgccatgg tacaaggaaa agtgacccct gctagcctaa tccaccacac aaagttgtgt
     1141 ctagaaaagc cactggggcc atcagtgctg aggcatgccc agcagggagg cttctctgtg
     1201 aagtctttgg gtgacctcat ggaacttgtc ttcttgtctc taacactgtc agacctccca
     1261 gttattgata tcttgaagat tgagtatatc caccaagaga ctgccactgt gctgggtact
     1321 gagattgtag ccttcaaaga gaaggaggtg agagccaagg tgcagcatta tatggcctac
     1381 tggatgggcc accgagagcc ccagggagtt gacgtggagg aggcttggaa gtgccggacg
     1441 tgtacctatg cagacatttg tgagtggaga aagggcagtg gagtgctcag ctctacactg
     1501 gcgccccaag tcaaaaaagc caaatgaata gaaggtatgc tttcaagaat gttgatcctt
     1561 cctgctcctg ttgtacctaa gcaaaagagg accagtctct gagcttggct tttatggaga
     1621 gtgttcttat tttggttctt ttttttattt ccacaacctc taaccacatt cagtccagga
     1681 ccaaggctca gggatgagtg ggagagatgg gttatactgt ccctggagct tcatcatgat
     1741 tgcctgagaa gacagatgct catcatggct ggaatgaagg tatccttcag taaactttgc
     1801 tttcctaaga aaattcttca gtttctgata agtcatccct atttttatct tgatcaaggc
     1861 tttctacagt tacataataa aatgaaatgc tgtccagga
//
