LOCUS       NM_001983               3379 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens ERCC excision repair 1, endonuclease non-catalytic
            subunit (ERCC1), transcript variant 2, mRNA.
ACCESSION   NM_001983
VERSION     NM_001983.4
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 3379)
  AUTHORS   Khalouei,A., Masoumi-Ardakani,Y., Jafarzaheh,A., Kalantari
            Khandani,B., Sedghy,F., Khosravi Mashizi,A., Yaghoobi,M.M.,
            Zangouey,M. and Shahouzehi,B.
  TITLE     Association of ERCC1 Gene Polymorphisms (rs3212986 and rs11615)
            With the Risk of Lung Cancer in a Population From Southeast Iran
  JOURNAL   J Res Health Sci 24 (4), e00631 (2024)
   PUBMED   39431656
  REMARK    GeneRIF: Association of ERCC1 Gene Polymorphisms (rs3212986 and
            rs11615) With the Risk of Lung Cancer in a Population From
            Southeast Iran.
REFERENCE   2  (bases 1 to 3379)
  AUTHORS   Imani,M.M., Akbari,S., Shalchi,M., Sadeghi,E. and Sadeghi,M.
  TITLE     Relationship between ERCC1 and XPC polymorphisms and the
            susceptibility to head and neck carcinoma: A systematic review,
            meta-analysis, and trial sequential analysis
  JOURNAL   Arch Oral Biol 162, 105955 (2024)
   PUBMED   38479279
  REMARK    GeneRIF: Relationship between ERCC1 and XPC polymorphisms and the
            susceptibility to head and neck carcinoma: A systematic review,
            meta-analysis, and trial sequential analysis.
            Review article
REFERENCE   3  (bases 1 to 3379)
  AUTHORS   Jamai,D., Gargouri,R., Selmi,B. and Khabir,A.
  TITLE     ERCC1 and MGMT Methylation as a Predictive Marker of Relapse and
            FOLFOX Response in Colorectal Cancer Patients from South Tunisia
  JOURNAL   Genes (Basel) 14 (7), 1467 (2023)
   PUBMED   37510370
  REMARK    GeneRIF: ERCC1 and MGMT Methylation as a Predictive Marker of
            Relapse and FOLFOX Response in Colorectal Cancer Patients from
            South Tunisia.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3379)
  AUTHORS   Du,P., Li,G., Wu,L. and Huang,M.
  TITLE     Perspectives of ERCC1 in early-stage and advanced cervical cancer:
            From experiments to clinical applications
  JOURNAL   Front Immunol 13, 1065379 (2023)
   PUBMED   36713431
  REMARK    GeneRIF: Perspectives of ERCC1 in early-stage and advanced cervical
            cancer: From experiments to clinical applications.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3379)
  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   6  (bases 1 to 3379)
  AUTHORS   Liu,P., Perryman,M.B., Liao,W. and Siciliano,M.J.
  TITLE     Efficiency and limitations of the hn-cDNA library approach for the
            isolation of human transcribed genes from hybrid cells
  JOURNAL   Somat Cell Mol Genet 18 (1), 7-18 (1992)
   PUBMED   1372133
REFERENCE   7  (bases 1 to 3379)
  AUTHORS   van Duin,M., van Den Tol,J., Hoeijmakers,J.H., Bootsma,D.,
            Rupp,I.P., Reynolds,P., Prakash,L. and Prakash,S.
  TITLE     Conserved pattern of antisense overlapping transcription in the
            homologous human ERCC-1 and yeast RAD10 DNA repair gene regions
  JOURNAL   Mol Cell Biol 9 (4), 1794-1798 (1989)
   PUBMED   2471070
REFERENCE   8  (bases 1 to 3379)
  AUTHORS   Hoeijmakers,J.H.
  TITLE     Characterization of genes and proteins involved in excision repair
            of human cells
  JOURNAL   J Cell Sci Suppl 6, 111-125 (1987)
   PUBMED   2821019
REFERENCE   9  (bases 1 to 3379)
  AUTHORS   van Duin,M., de Wit,J., Odijk,H., Westerveld,A., Yasui,A.,
            Koken,M.H., Hoeijmakers,J.H. and Bootsma,D.
  TITLE     Molecular characterization of the human excision repair gene
            ERCC-1: cDNA cloning and amino acid homology with the yeast DNA
            repair gene RAD10
  JOURNAL   Cell 44 (6), 913-923 (1986)
   PUBMED   2420469
REFERENCE   10 (bases 1 to 3379)
  AUTHORS   Westerveld,A., Hoeijmakers,J.H., van Duin,M., de Wit,J., Odijk,H.,
            Pastink,A., Wood,R.D. and Bootsma,D.
  TITLE     Molecular cloning of a human DNA repair gene
  JOURNAL   Nature 310 (5976), 425-429 (1984)
   PUBMED   6462228
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BQ671113.1, BC008930.2,
            AK314884.1, AC092309.3 and BQ019990.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_001983.3.
            
            Summary: The product of this gene functions in the nucleotide
            excision repair pathway, and is required for the repair of DNA
            lesions such as those induced by UV light or formed by
            electrophilic compounds including cisplatin. The encoded protein
            forms a heterodimer with the XPF endonuclease (also known as
            ERCC4), and the heterodimeric endonuclease catalyzes the 5'
            incision in the process of excising the DNA lesion. The
            heterodimeric endonuclease is also involved in recombinational DNA
            repair and in the repair of inter-strand crosslinks. Mutations in
            this gene result in cerebrooculofacioskeletal syndrome, and
            polymorphisms that alter expression of this gene may play a role in
            carcinogenesis. Multiple transcript variants encoding different
            isoforms have been found for this gene. The last exon of this gene
            overlaps with the CD3e molecule, epsilon associated protein gene on
            the opposite strand. [provided by RefSeq, Oct 2009].
            
            Transcript Variant: This variant (2) encodes isoform 2.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR11853566.14349.1,
                                           SRR11853560.14878.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000300853.8/ ENSP00000300853.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-82                BQ671113.1         3-84
            83-497              BC008930.2         1-415
            498-498             AK314884.1         432-432
            499-1107            BC008930.2         417-1025
            1108-2901           AC092309.3         41433-43226         c
            2902-3379           BQ019990.1         20-497              c
FEATURES             Location/Qualifiers
     source          1..3379
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.32"
     gene            1..3379
                     /gene="ERCC1"
                     /gene_synonym="COFS4; RAD10; UV20"
                     /note="ERCC excision repair 1, endonuclease non-catalytic
                     subunit"
                     /db_xref="GeneID:2067"
                     /db_xref="HGNC:HGNC:3433"
                     /db_xref="MIM:126380"
     exon            1..137
                     /gene="ERCC1"
                     /gene_synonym="COFS4; RAD10; UV20"
                     /inference="alignment:Splign:2.1.0"
     exon            138..249
                     /gene="ERCC1"
                     /gene_synonym="COFS4; RAD10; UV20"
                     /inference="alignment:Splign:2.1.0"
     CDS             145..1038
                     /gene="ERCC1"
                     /gene_synonym="COFS4; RAD10; UV20"
                     /note="isoform 2 is encoded by transcript variant 2; DNA
                     excision repair protein ERCC-1; excision repair
                     cross-complementation group 1; excision repair
                     cross-complementing rodent repair deficiency,
                     complementation group 1 (includes overlapping antisense
                     sequence)"
                     /codon_start=1
                     /product="DNA excision repair protein ERCC-1 isoform 2"
                     /protein_id="NP_001974.1"
                     /db_xref="CCDS:CCDS12662.1"
                     /db_xref="GeneID:2067"
                     /db_xref="HGNC:HGNC:3433"
                     /db_xref="MIM:126380"
                     /translation="MDPGKDKEGVPQPSGPPARKKFVIPLDEDEVPPGVAKPLFRSTQ
                     SLPTVDTSAQAAPQTYAEYAISQPLEGAGATCPTGSEPLAGETPNQALKPGAKSNSII
                     VSPRQRGNPVLKFVRNVPWEFGDVIPDYVLGQSTCALFLSLRYHNLHPDYIHGRLQSL
                     GKNFALRVLLVQVDVKDPQQALKELAKMCILADCTLILAWSPEEAGRYLETYKAYEQK
                     PADLLMEKLEQDFVSRVTECLTTVKSVNKTDSQTLLTTFGSLEQLIAASREDLALCPG
                     LGPQKARRLFDVLHEPFLKVP"
     exon            250..465
                     /gene="ERCC1"
                     /gene_synonym="COFS4; RAD10; UV20"
                     /inference="alignment:Splign:2.1.0"
     exon            466..569
                     /gene="ERCC1"
                     /gene_synonym="COFS4; RAD10; UV20"
                     /inference="alignment:Splign:2.1.0"
     exon            570..669
                     /gene="ERCC1"
                     /gene_synonym="COFS4; RAD10; UV20"
                     /inference="alignment:Splign:2.1.0"
     exon            670..746
                     /gene="ERCC1"
                     /gene_synonym="COFS4; RAD10; UV20"
                     /inference="alignment:Splign:2.1.0"
     exon            747..846
                     /gene="ERCC1"
                     /gene_synonym="COFS4; RAD10; UV20"
                     /inference="alignment:Splign:2.1.0"
     exon            847..918
                     /gene="ERCC1"
                     /gene_synonym="COFS4; RAD10; UV20"
                     /inference="alignment:Splign:2.1.0"
     exon            919..987
                     /gene="ERCC1"
                     /gene_synonym="COFS4; RAD10; UV20"
                     /inference="alignment:Splign:2.1.0"
     exon            988..3379
                     /gene="ERCC1"
                     /gene_synonym="COFS4; RAD10; UV20"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1073..1078
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ERCC1"
                     /gene_synonym="COFS4; RAD10; UV20"
                     /note="hexamer: AATAAA"
     polyA_site      1099
                     /gene="ERCC1"
                     /gene_synonym="COFS4; RAD10; UV20"
                     /note="major polyA site"
     regulatory      3356..3361
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ERCC1"
                     /gene_synonym="COFS4; RAD10; UV20"
                     /note="hexamer: AATAAA"
     polyA_site      3379
                     /gene="ERCC1"
                     /gene_synonym="COFS4; RAD10; UV20"
                     /note="major polyA site"
ORIGIN      
        1 ggaagtgctg cgagccctgg gccacgctgg ccgtgctggc agtgggccgc ctcgatccct
       61 ctgcagtctt tcccttgagg ctccaagacc agcaggtgag gcctcgcggc gctgaaaccg
      121 tgaggcccgg accacaggct ccagatggac cctgggaagg acaaagaggg ggtgccccag
      181 ccctcagggc cgccagcaag gaagaaattt gtgatacccc tcgacgagga tgaggtccct
      241 cctggagtgg ccaagccctt attccgatct acacagagcc ttcccactgt ggacacctcg
      301 gcccaggcgg cccctcagac ctacgccgaa tatgccatct cacagcctct ggaaggggct
      361 ggggccacgt gccccacagg gtcagagccc ctggcaggag agacgcccaa ccaggccctg
      421 aaacccgggg caaaatccaa cagcatcatt gtgagccctc ggcagagggg caatcccgta
      481 ctgaagttcg tgcgcaatgt gccctgggaa tttggcgacg taattcccga ctatgtgctg
      541 ggccagagca cctgtgccct gttcctcagc ctccgctacc acaacctgca cccagactac
      601 atccatgggc ggctgcagag cctggggaag aacttcgcct tgcgggtcct gcttgtccag
      661 gtggatgtga aagatcccca gcaggccctc aaggagctgg ctaagatgtg tatcctggcc
      721 gactgcacat tgatcctcgc ctggagcccc gaggaagctg ggcggtacct ggagacctac
      781 aaggcctatg agcagaaacc agcggacctc ctgatggaga agctagagca ggacttcgtc
      841 tcccgggtga ctgaatgtct gaccaccgtg aagtcagtca acaaaacgga cagtcagacc
      901 ctcctgacca catttggatc tctggaacag ctcatcgccg catcaagaga agatctggcc
      961 ttatgcccag gcctgggccc tcagaaagcc cggaggctgt ttgatgtcct gcacgagccc
     1021 ttcttgaaag taccctgatg accccagctg ccaaggaaac ccccagtgta ataataaatc
     1081 gtcctcccag gccaggctcc tgctggctgc gctggtgcag tctctgggga gggattctgg
     1141 gggtgtcacc ttctggtggc ccaggtgggc accttcagct ttctttagtt cctcagtttc
     1201 ccgggggcag actacacagg ctgctgctgc tgctgcttcc gcttcttgtc ccggcctgtg
     1261 ggagcctcct ccccagactc tgaattcagt ggcggccctg gcatctcctc ttggggcact
     1321 gtctctggca tccggctttc ctgactctgc ttcttcctct tcttggtgga tcccggagtt
     1381 gccctggctt caggctgtcc ctcccctggc agttcaggct ctagtggctg aattggctca
     1441 gtcactgtgt gacctctctc tttcttcttc ttcttcttct tggtggatgt gggagctgcc
     1501 tgaggctcaa ggtcatccgg cagctcaggc cccaccacct ctgtctctgg ctccactgtg
     1561 gcatcttgct gtttttcttt cttcgtcttc tttttgggag ctgccagagc tgcctgggcc
     1621 tgaggcttcg ctccttctgg ctgttgaggc gccatggtcc cccctgggga ctccagaggc
     1681 ttcatctccg gctccactgg ctccatcgcc tccgtccctg gctccatcat tgccatctgt
     1741 cccttttctt ttttcctctt cttcgtaggg ggcagaggga tggcttcctc cagtggctcc
     1801 accttcacct gtggctgaga ctcaactgtc accccctcct ctggctccat cccttccgtc
     1861 cccttttgcc tctttctctt tttggtcggg gacaggactg tgtcttctag aggctcagtg
     1921 ttaatctgtt cctgcttcac tgtcttgtct tctggctcga aggtttcttt ccctttgggc
     1981 ttcttcctct tcttggtggt ggacgggaac agcactccca gaggctccag tgtctccact
     2041 gtgggctctg tccccacagg ccctgctgcc tctggttctt tcagctgctg attttttttc
     2101 ttcttcttct tccgcacatc catttctggc gaccccaaag ccatgtccac ctccagggcc
     2161 ccgtgcccat tcactgcctc ctgagtgact ggggcctctg tcacctgcat ctcctttttc
     2221 ttcttccctg aggtgagcag gttgggggcc aaggctgacc taggccctgt gactggtggg
     2281 ttgcccccaa aggcacagaa ccgaggcctc aggccaggag ggatctgtgg tgggggactt
     2341 gctgggatgg gctgcagagg gctccctgac agggattgct ggggaccctc aaggatcctt
     2401 agggtgccct ggggggctga ggcacaggtg agtccacctc ctgcctccgt tgagggggcc
     2461 agcagggtcg cttctccagc ttggggacag ctgctgagga ctcgatagcg gtgccgcttg
     2521 cctgccaatt tgcccttgac gatctgggag ccagagagag gcacatgccg cccattgaag
     2581 ctacagagag aaacagggag ggcagaggct taagtggaac aggagaggga aggttttttg
     2641 attttttttt tgtttttttt tgagagagtc ttgctctgtt gcctaggctg gagtgcagtg
     2701 gcatgatctc ggctcactgc aatgtccacc tcctgggttc aagcgattct cctgcctcag
     2761 cctctcaagt agctgggatt acaggcacct gccaccacgc ccagccaatt tttgtatttt
     2821 tagtagagac aatttcacta tgttggccag gctggtcttg aactcctgac ctcaagtgat
     2881 ctgctcgcct cggcctccca aaggatggga ttacaggcac cagccactgc gcctggctgg
     2941 cctctggttt ttaataaaac atgactagag tgactccatc ttaaagtgag tagctaggca
     3001 cttacaaggt tcatgcttat ggcctgaaaa taaccacatc ccaggctgac caccaattat
     3061 aattacagaa tatttatggc catacagaac atgttccacc aagcctgcag aatgtccaaa
     3121 tgtcctaaga atgcagcccc cattacttaa atataacata aatgagcaag cttaggttgc
     3181 aggattaatg gtcgtggata acaccaatag cccctacctt tagtgagctt atctgcacac
     3241 tccaagttta actatagttc cttatagttt cttataagta gaaatactaa caaagggctg
     3301 tgggtttctc cccctgcttt ctgaggacac tctactctgt aaaggagtag tttccaataa
     3361 acttgtttct ttcactgtg
//
