LOCUS       NM_000123               3888 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens ERCC excision repair 5, endonuclease (ERCC5), mRNA.
ACCESSION   NM_000123
VERSION     NM_000123.4
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 3888)
  AUTHORS   Gudur,A.K., Kale,S.R., Gudur,R.A., Bhosale,S.J. and Datkhile,K.D.
  TITLE     Genetic Polymorphisms of XPC, XPD, XPG Genes and their Association
            with Radiotherapy Induced Toxicity among Head and Neck Cancer
            Patients: A Hospital Based Study from Maharashtra
  JOURNAL   Asian Pac J Cancer Prev 25 (1), 191-199 (2024)
   PUBMED   38285784
  REMARK    GeneRIF: Genetic Polymorphisms of XPC, XPD, XPG Genes and their
            Association with Radiotherapy Induced Toxicity among Head and Neck
            Cancer Patients: A Hospital Based Study from Maharashtra.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3888)
  AUTHORS   Das,A.P., Saini,S., Tyagi,S., Chaudhary,N. and Agarwal,S.M.
  TITLE     Elucidation of Increased Cervical Cancer Risk Due to Polymorphisms
            in XRCC1 (R399Q and R194W), ERCC5 (D1104H), and NQO1 (P187S)
  JOURNAL   Reprod Sci 30 (4), 1118-1132 (2023)
   PUBMED   36195778
  REMARK    GeneRIF: Elucidation of Increased Cervical Cancer Risk Due to
            Polymorphisms in XRCC1 (R399Q and R194W), ERCC5 (D1104H), and NQO1
            (P187S).
REFERENCE   3  (bases 1 to 3888)
  AUTHORS   Bai,Z., Luo,Y. and Tian,L.
  TITLE     ERCC5, HES6 and RORA are potential diagnostic markers of coronary
            artery disease
  JOURNAL   FEBS Open Bio 12 (10), 1814-1827 (2022)
   PUBMED   35934844
  REMARK    GeneRIF: ERCC5, HES6 and RORA are potential diagnostic markers of
            coronary artery disease.
REFERENCE   4  (bases 1 to 3888)
  AUTHORS   Abdalkhalek,E.S., Wakeel,L.M.E., Nagy,A.A. and Sabri,N.A.
  TITLE     Variants of ERCC5 and the outcome of platinum-based regimens in
            non-small cell lung cancer: a prospective cohort study
  JOURNAL   Med Oncol 39 (10), 152 (2022)
   PUBMED   35852645
  REMARK    GeneRIF: Variants of ERCC5 and the outcome of platinum-based
            regimens in non-small cell lung cancer: a prospective cohort study.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3888)
  AUTHORS   Emmert,S., Schneider,T.D., Khan,S.G. and Kraemer,K.H.
  TITLE     The human XPG gene: gene architecture, alternative splicing and
            single nucleotide polymorphisms
  JOURNAL   Nucleic Acids Res 29 (7), 1443-1452 (2001)
   PUBMED   11266544
REFERENCE   6  (bases 1 to 3888)
  AUTHORS   Lehmann,A.R., Bootsma,D., Clarkson,S.G., Cleaver,J.E.,
            McAlpine,P.J., Tanaka,K., Thompson,L.H. and Wood,R.D.
  TITLE     Nomenclature of human DNA repair genes
  JOURNAL   Mutat Res 315 (1), 41-42 (1994)
   PUBMED   7517009
REFERENCE   7  (bases 1 to 3888)
  AUTHORS   Shiomi,T., Harada,Y., Saito,T., Shiomi,N., Okuno,Y. and
            Yamaizumi,M.
  TITLE     An ERCC5 gene with homology to yeast RAD2 is involved in group G
            xeroderma pigmentosum
  JOURNAL   Mutat Res 314 (2), 167-175 (1994)
   PUBMED   7510366
REFERENCE   8  (bases 1 to 3888)
  AUTHORS   Kraemer,K.H., DiGiovanna,J.J. and Tamura,D.
  TITLE     Xeroderma Pigmentosum
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301571
REFERENCE   9  (bases 1 to 3888)
  AUTHORS   Takahashi,E., Shiomi,N. and Shiomi,T.
  TITLE     Precise localization of the excision repair gene, ERCC5, to human
            chromosome 13q32.3-q33.1 by direct R-banding fluorescence in situ
            hybridization
  JOURNAL   Jpn J Cancer Res 83 (11), 1117-1119 (1992)
   PUBMED   1483924
REFERENCE   10 (bases 1 to 3888)
  AUTHORS   Mudgett,J.S. and MacInnes,M.A.
  TITLE     Isolation of the functional human excision repair gene ERCC5 by
            intercosmid recombination
  JOURNAL   Genomics 8 (4), 623-633 (1990)
   PUBMED   2276736
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL157769.12.
            
            On Dec 4, 2019 this sequence version replaced NM_000123.3.
            
            Summary: This gene encodes a single-strand specific DNA
            endonuclease that makes the 3' incision in DNA excision repair
            following UV-induced damage. The protein may also function in other
            cellular processes, including RNA polymerase II transcription, and
            transcription-coupled DNA repair. Mutations in this gene cause
            xeroderma pigmentosum complementation group G (XP-G), which is also
            referred to as xeroderma pigmentosum VII (XP7), a skin disorder
            characterized by hypersensitivity to UV light and increased
            susceptibility for skin cancer development following UV exposure.
            Some patients also develop Cockayne syndrome, which is
            characterized by severe growth defects, cognitive disability, and
            cachexia. Read-through transcription exists between this gene and
            the neighboring upstream BIVM (basic, immunoglobulin-like variable
            motif containing) gene. [provided by RefSeq, Feb 2011].
            
            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 :: AF462447.1, X69978.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000652225.2/ ENSP00000498881.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-323               AL157769.12        130751-131073
            324-499             AL157769.12        136837-137012
            500-615             AL157769.12        138476-138591
            616-702             AL157769.12        139007-139093
            703-763             AL157769.12        140771-140831
            764-907             AL157769.12        142994-143137
            908-1115            AL157769.12        146226-146433
            1116-2189           AL157769.12        146749-147822
            2190-2434           AL157769.12        150386-150630
            2435-2554           AL157769.12        150981-151100
            2555-2768           AL157769.12        151351-151564
            2769-2913           AL157769.12        152832-152976
            2914-3114           AL157769.12        156917-157117
            3115-3199           AL157769.12        157978-158062
            3200-3888           AL157769.12        160026-160714
FEATURES             Location/Qualifiers
     source          1..3888
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q33.1"
     gene            1..3888
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /note="ERCC excision repair 5, endonuclease"
                     /db_xref="GeneID:2073"
                     /db_xref="HGNC:HGNC:3437"
                     /db_xref="MIM:133530"
     exon            1..323
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /inference="alignment:Splign:2.1.0"
     CDS             236..3796
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /note="xeroderma pigmentosum, complementation group G;
                     XPG-complementing protein; DNA repair protein
                     complementing XP-G cells; excision repair
                     cross-complementation group 5; excision repair
                     cross-complementing rodent repair deficiency,
                     complementation group 5"
                     /codon_start=1
                     /product="DNA excision repair protein ERCC-5"
                     /protein_id="NP_000114.3"
                     /db_xref="CCDS:CCDS32004.1"
                     /db_xref="GeneID:2073"
                     /db_xref="HGNC:HGNC:3437"
                     /db_xref="MIM:133530"
                     /translation="MGVQGLWKLLECSGRQVSPEALEGKILAVDISIWLNQALKGVRD
                     RHGNSIENPHLLTLFHRLCKLLFFRIRPIFVFDGDAPLLKKQTLVKRRQRKDLASSDS
                     RKTTEKLLKTFLKRQAIKTAFRSKRDEALPSLTQVRRENDLYVLPPLQEEEKHSSEEE
                     DEKEWQERMNQKQALQEEFFHNPQAIDIESEDFSSLPPEVKHEILTDMKEFTKRRRTL
                     FEAMPEESDDFSQYQLKGLLKKNYLNQHIEHVQKEMNQQHSGHIRRQYEDEGGFLKEV
                     ESRRVVSEDTSHYILIKGIQAKTVAEVDSESLPSSSKMHGMSFDVKSSPCEKLKTEKE
                     PDATPPSPRTLLAMQAALLGSSSEEELESENRRQARGRNAPAAVDEGSISPRTLSAIK
                     RALDDDEDVKVCAGDDVQTGGPGAEEMRINSSTENSDEGLKVRDGKGIPFTATLASSS
                     VNSAEEHVASTNEGREPTDSVPKEQMSLVHVGTEAFPISDESMIKDRKDRLPLESAVV
                     RHSDAPGLPNGRELTPASPTCTNSVSKNETHAEVLEQQNELCPYESKFDSSLLSSDDE
                     TKCKPNSASEVIGPVSLQETSSIVSVPSEAVDNVENVVSFNAKEHENFLETIQEQQTT
                     ESAGQDLISIPKAVEPMEIDSEESESDGSFIEVQSVISDEELQAEFPETSKPPSEQGE
                     EELVGTREGEAPAESESLLRDNSERDDVDGEPQEAEKDAEDSLHEWQDINLEELETLE
                     SNLLAQQNSLKAQKQQQERIAATVTGQMFLESQELLRLFGIPYIQAPMEAEAQCAILD
                     LTDQTSGTITDDSDIWLFGARHVYRNFFNKNKFVEYYQYVDFHNQLGLDRNKLINLAY
                     LLGSDYTEGIPTVGCVTAMEILNEFPGHGLEPLLKFSEWWHEAQKNPKIRPNPHDTKV
                     KKKLRTLQLTPGFPNPAVAEAYLKPVVDDSKGSFLWGKPDLDKIREFCQRYFGWNRTK
                     TDESLFPVLKQLDAQQTQLRIDSFFRLAQQEKEDAKRIKSQRLNRAVTCMLRKEKEAA
                     ASEIEAVSVAMEKEFELLDKAKGKTQKRGITNTLEESSSLKRKRLSDSKGKNTCGGFL
                     GETCLSESSDGSSSEDAESSSLMNVQRRTAAKEPKTSASDSQNSVKEAPVKNGGATTS
                     SSSDSDDDGGKEKMVLVTARSVFGKKRRKLRRARGRKRKT"
     exon            324..499
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /inference="alignment:Splign:2.1.0"
     exon            500..615
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /inference="alignment:Splign:2.1.0"
     exon            616..702
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /inference="alignment:Splign:2.1.0"
     exon            703..763
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /inference="alignment:Splign:2.1.0"
     exon            764..907
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /inference="alignment:Splign:2.1.0"
     exon            908..1115
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /inference="alignment:Splign:2.1.0"
     exon            1116..2189
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /inference="alignment:Splign:2.1.0"
     exon            2190..2434
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /inference="alignment:Splign:2.1.0"
     exon            2435..2554
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /inference="alignment:Splign:2.1.0"
     exon            2555..2768
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /inference="alignment:Splign:2.1.0"
     exon            2769..2913
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /inference="alignment:Splign:2.1.0"
     exon            2914..3114
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /inference="alignment:Splign:2.1.0"
     exon            3115..3199
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /inference="alignment:Splign:2.1.0"
     exon            3200..3888
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3864..3869
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /note="hexamer: AATAAA"
     polyA_site      3888
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /note="major polyA site"
ORIGIN      
        1 cttccgggag gcggtgacag ctgctgagac gtgttgcagc cagagtctct ccgctttaat
       61 gcgctcccat tagtgccgtc ccccactgga aaaccgtggc ttctgtatta tttgccatct
      121 ttgttgtgta ggagcaggga gggcttcctc ccggggtcct aggcggcggt gcagtccgtc
      181 gtagaagaat tagagtagaa gttgtcgggg tccgctctta ggacgcagcc gcctcatggg
      241 ggtccagggg ctctggaagc tgctggagtg ctccgggcgg caggtcagcc ccgaagcgct
      301 ggaagggaag atcctggctg ttgatattag catttggtta aaccaagcac ttaaaggagt
      361 ccgggatcgc catgggaact caatagaaaa tcctcatctt ctcactttgt ttcatcggct
      421 ctgcaaactc ttattttttc gaattcgtcc tatttttgtg tttgatgggg atgctccact
      481 attgaagaaa cagactttgg tgaagagaag gcagagaaag gacttagcgt ccagtgactc
      541 caggaaaacg acagagaagc ttctgaaaac atttttgaaa agacaagcca tcaaaactgc
      601 cttcagaagc aaaagagatg aagcactacc cagtcttacc caagttcgaa gagaaaacga
      661 cctctatgtt ttgcctcctt tacaagagga agaaaaacac agttcagaag aggaagatga
      721 aaaagaatgg caagaaagaa tgaatcaaaa acaagcatta caggaagagt tctttcataa
      781 tcctcaagcg atagatattg agtctgagga cttcagcagc ctgccccctg aagtaaagca
      841 tgaaatcttg actgatatga aagagttcac caagcgcaga agaacattat ttgaagcaat
      901 gccagaggag tctgatgact tttcacagta ccaactcaaa ggcttgctta aaaagaacta
      961 tctgaaccag catatagaac atgtccaaaa ggaaatgaat cagcaacatt caggacacat
     1021 ccgaaggcag tatgaagatg aagggggctt tctgaaggag gtagagtcaa ggagagtggt
     1081 ctctgaagac acttcacatt acatcttgat aaaaggtatt caagctaaga cagttgcaga
     1141 agtggattca gagtctcttc cttcttccag caaaatgcac ggcatgtctt ttgacgtgaa
     1201 gtcatctcca tgtgaaaaac tgaagacaga gaaagagcct gatgctaccc ctccttctcc
     1261 aagaacttta ctagctatgc aagctgccct gctgggaagt agctcagaag aggagctgga
     1321 gagtgaaaat cgaaggcagg cccgtgggag gaacgcacct gctgctgtag acgaaggctc
     1381 catatcaccc cggactcttt cagccattaa gagagctctt gacgatgacg aagatgtaaa
     1441 agtgtgtgct ggggatgatg tgcagacggg agggccagga gcagaagaaa tgcgtataaa
     1501 cagctccacc gagaacagtg atgaaggact taaagtgaga gatggaaaag gaataccgtt
     1561 tactgcaaca cttgcgtcat ctagtgtgaa ctctgcagag gagcacgtag ccagcactaa
     1621 tgaggggaga gagcccacag actcagttcc aaaagaacaa atgtcacttg ttcacgtggg
     1681 gactgaagcc tttccgataa gtgatgagtc tatgattaag gacagaaaag atcggctgcc
     1741 tctggagagt gcagtggtta gacatagtga cgcacctggg ctcccgaatg gaagggaact
     1801 gacaccggca tctccaactt gtacaaattc tgtgtcaaag aatgaaacac atgctgaagt
     1861 gcttgagcag cagaacgaac tttgcccata tgagagtaaa ttcgattctt ctcttctttc
     1921 aagtgatgat gaaacaaaat gtaaaccgaa ttctgcttct gaagtcattg gccctgtcag
     1981 tttgcaagaa acaagtagca tagtaagtgt cccttcagag gcagtagata atgtggaaaa
     2041 tgtggtgtca tttaatgcta aagagcatga gaattttctg gaaaccatcc aagaacagca
     2101 gaccactgaa tctgcaggcc aggatttaat ttccattcca aaggccgtgg aaccaatgga
     2161 aattgactcg gaagaaagtg aatctgatgg aagtttcatt gaagtgcaaa gtgtgattag
     2221 tgatgaggaa cttcaagcag aattccctga aacttccaaa cctccctcag aacaaggcga
     2281 agaggaactg gtaggaacta gggagggaga agcccctgct gagtccgaga gcctcctgag
     2341 ggacaactct gagagggacg acgtggatgg tgagccacag gaagctgaga aagatgcgga
     2401 agattcgctc catgaatggc aagatattaa tttggaggag ttggaaactc tggagagcaa
     2461 cctcttagca cagcagaatt cactgaaagc tcaaaaacag cagcaagaac ggatcgctgc
     2521 tactgtcacc ggacagatgt tcctggaaag ccaggaactc ctgcgcctgt tcggcattcc
     2581 ctacatccag gctcccatgg aagcagaggc gcagtgcgcc atcctggacc tgactgatca
     2641 gacttccgga accatcactg atgacagtga tatctggctg tttggagcgc ggcatgtcta
     2701 tagaaacttt tttaataaaa acaagtttgt agaatattat caatatgtgg actttcacaa
     2761 tcaattggga ttggaccgga ataagttaat aaatttggct tatttgcttg gaagtgatta
     2821 taccgaagga ataccaactg tgggttgtgt aaccgccatg gaaattctca atgaattccc
     2881 tgggcatggc ctggaacctc tcctaaaatt ctcagaatgg tggcatgaag ctcaaaaaaa
     2941 tccaaagata agacctaatc ctcatgacac caaagtgaaa aaaaaattac ggacattgca
     3001 actcacccct ggctttccta acccagctgt tgccgaggcc tacctcaaac ccgtggtgga
     3061 tgactcgaag ggatcctttc tgtgggggaa acctgatctc gacaaaatta gagaattttg
     3121 tcagcggtat ttcggctgga acagaacgaa gacagatgaa tctctgtttc ctgtattaaa
     3181 gcaactcgat gcccagcaga cacagctccg aattgattcc ttctttagat tagcacaaca
     3241 ggagaaagaa gatgctaaac gtattaagag ccagagacta aacagagctg tgacatgtat
     3301 gctaaggaaa gagaaagaag cagcagccag cgaaatagaa gcagtttctg ttgccatgga
     3361 gaaagaattt gagctacttg ataaggcaaa aggaaaaacc cagaagagag gcataacaaa
     3421 taccttagaa gagtcatcaa gcctgaaaag aaagaggctt tcagattcta aaggaaagaa
     3481 tacatgcggt ggatttttgg gggagacctg cctctcagaa tcatctgatg gatcttcaag
     3541 tgaagatgct gaaagttcat ctttaatgaa tgtacaaagg agaacagctg cgaaagagcc
     3601 aaaaaccagt gcttcagatt cgcagaactc agtgaaggaa gctcccgtga agaatggagg
     3661 tgcgaccacc agcagctcta gtgatagtga tgacgatgga gggaaagaga agatggtcct
     3721 cgtgaccgcc agatctgtgt ttgggaagaa aagaaggaaa ctaagacgtg cgaggggaag
     3781 aaaaaggaaa acctaattaa aaaatatgta tcctctataa ttagttatga cagccatttg
     3841 taatgaattt gtcgcaaaga cgtaataaaa ttaactggtg gcacggtc
//
