LOCUS       NM_000122               2718 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens ERCC excision repair 3, TFIIH core complex helicase
            subunit (ERCC3), transcript variant 1, mRNA.
ACCESSION   NM_000122
VERSION     NM_000122.2
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 2718)
  AUTHORS   Bao,X., Chen,Y., Lou,X., Du,J., Li,H., Liu,N., Tang,Z., Hua,J.,
            Guo,W. and Liu,S.B.
  TITLE     Comprehensive analysis of ERCC3 prognosis value and ceRNA network
            in AML
  JOURNAL   Clin Transl Oncol 25 (4), 1053-1066 (2023)
   PUBMED   36472749
  REMARK    GeneRIF: Comprehensive analysis of ERCC3 prognosis value and ceRNA
            network in AML.
REFERENCE   2  (bases 1 to 2718)
  AUTHORS   Santana,J.F., Collins,G.S., Parida,M., Luse,D.S. and Price,D.H.
  TITLE     Differential dependencies of human RNA polymerase II promoters on
            TBP, TAF1, TFIIB and XPB
  JOURNAL   Nucleic Acids Res 50 (16), 9127-9148 (2022)
   PUBMED   35947745
  REMARK    GeneRIF: Differential dependencies of human RNA polymerase II
            promoters on TBP, TAF1, TFIIB and XPB.
REFERENCE   3  (bases 1 to 2718)
  AUTHORS   Swaney,D.L., Ramms,D.J., Wang,Z., Park,J., Goto,Y., Soucheray,M.,
            Bhola,N., Kim,K., Zheng,F., Zeng,Y., McGregor,M., Herrington,K.A.,
            O'Keefe,R., Jin,N., VanLandingham,N.K., Foussard,H., Von Dollen,J.,
            Bouhaddou,M., Jimenez-Morales,D., Obernier,K., Kreisberg,J.F.,
            Kim,M., Johnson,D.E., Jura,N., Grandis,J.R., Gutkind,J.S.,
            Ideker,T. and Krogan,N.J.
  TITLE     A protein network map of head and neck cancer reveals PIK3CA mutant
            drug sensitivity
  JOURNAL   Science 374 (6563), eabf2911 (2021)
   PUBMED   34591642
REFERENCE   4  (bases 1 to 2718)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   5  (bases 1 to 2718)
  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 2718)
  AUTHORS   Ma,L., Weeda,G., Jochemsen,A.G., Bootsma,D., Hoeijmakers,J.H. and
            van der Eb,A.J.
  TITLE     Molecular and functional analysis of the XPBC/ERCC-3 promoter:
            transcription activity is dependent on the integrity of an
            Sp1-binding site
  JOURNAL   Nucleic Acids Res 20 (2), 217-224 (1992)
   PUBMED   1741247
REFERENCE   7  (bases 1 to 2718)
  AUTHORS   Weeda,G., Ma,L.B., van Ham,R.C., van der Eb,A.J. and
            Hoeijmakers,J.H.
  TITLE     Structure and expression of the human XPBC/ERCC-3 gene involved in
            DNA repair disorders xeroderma pigmentosum and Cockayne's syndrome
  JOURNAL   Nucleic Acids Res 19 (22), 6301-6308 (1991)
   PUBMED   1956789
REFERENCE   8  (bases 1 to 2718)
  AUTHORS   Jacob,G.A., Luse,S.W. and Luse,D.S.
  TITLE     Abortive initiation is increased only for the weakest members of a
            set of down mutants of the adenovirus 2 major late promoter
  JOURNAL   J Biol Chem 266 (33), 22537-22544 (1991)
   PUBMED   1939271
REFERENCE   9  (bases 1 to 2718)
  AUTHORS   Weeda,G., Wiegant,J., van der Ploeg,M., Geurts van Kessel,A.H., van
            der Eb,A.J. and Hoeijmakers,J.H.
  TITLE     Localization of the xeroderma pigmentosum group B-correcting gene
            ERCC3 to human chromosome 2q21
  JOURNAL   Genomics 10 (4), 1035-1040 (1991)
   PUBMED   1916809
REFERENCE   10 (bases 1 to 2718)
  AUTHORS   Weeda,G., van Ham,R.C., Vermeulen,W., Bootsma,D., van der Eb,A.J.
            and Hoeijmakers,J.H.
  TITLE     A presumed DNA helicase encoded by ERCC-3 is involved in the human
            repair disorders xeroderma pigmentosum and Cockayne's syndrome
  JOURNAL   Cell 62 (4), 777-791 (1990)
   PUBMED   2167179
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M31899.1.
            
            On Aug 31, 2019 this sequence version replaced NM_000122.1.
            
            Summary: This gene encodes an ATP-dependent DNA helicase that
            functions in nucleotide excision repair. The encoded protein is a
            subunit of basal transcription factor 2 (TFIIH) and, therefore,
            also functions in class II transcription. Mutations in this gene
            are associated with Xeroderma pigmentosum B, Cockayne's syndrome,
            and trichothiodystrophy. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Dec 2014].
            
            Transcript Variant: This variant (1) represents the shortest
            transcript and encodes the longer isoform (a).
            
            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 :: M31899.1, BC008820.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000285398.7/ ENSP00000285398.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2718              M31899.1           33-2750
FEATURES             Location/Qualifiers
     source          1..2718
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q14.3"
     gene            1..2718
                     /gene="ERCC3"
                     /gene_synonym="BTF2; GTF2H; RAD25; Ssl2; TFIIH; TTD2; XPB"
                     /note="ERCC excision repair 3, TFIIH core complex helicase
                     subunit"
                     /db_xref="GeneID:2071"
                     /db_xref="HGNC:HGNC:3435"
                     /db_xref="MIM:133510"
     exon            1..91
                     /gene="ERCC3"
                     /gene_synonym="BTF2; GTF2H; RAD25; Ssl2; TFIIH; TTD2; XPB"
                     /inference="alignment:Splign:2.1.0"
     CDS             64..2412
                     /gene="ERCC3"
                     /gene_synonym="BTF2; GTF2H; RAD25; Ssl2; TFIIH; TTD2; XPB"
                     /EC_number="5.6.2.4"
                     /note="isoform a is encoded by transcript variant 1;
                     xeroderma pigmentosum, complementation group B; TFIIH
                     basal transcription factor complex helicase XPB subunit;
                     TFIIH p89; excision repair cross-complementing rodent
                     repair deficiency, complementation group 3; TFIIH 89 kDa
                     subunit; DNA 3'-5' helicase/translocase XPB; DNA repair
                     helicase; DNA excision repair protein ERCC-3; DNA repair
                     protein complementing XP-B cells; basic transcription
                     factor 2 89 kDa subunit; xeroderma pigmentosum group
                     B-complementing protein; TFIIH subunit XPB; TFIIH basal
                     transcription factor complex 89 kDa subunit; BTF2 p89;
                     excision repair cross-complementation group 3; general
                     transcription and DNA repair factor IIH helicase subunit
                     XPB; general transcription and DNA repair factor IIH
                     helicase/translocase subunit XPB"
                     /codon_start=1
                     /product="general transcription and DNA repair factor IIH
                     helicase/translocase subunit XPB isoform a"
                     /protein_id="NP_000113.1"
                     /db_xref="CCDS:CCDS2144.1"
                     /db_xref="GeneID:2071"
                     /db_xref="HGNC:HGNC:3435"
                     /db_xref="MIM:133510"
                     /translation="MGKRDRADRDKKKSRKRHYEDEEDDEEDAPGNDPQEAVPSAAGK
                     QVDESGTKVDEYGAKDYRLQMPLKDDHTSRPLWVAPDGHIFLEAFSPVYKYAQDFLVA
                     IAEPVCRPTHVHEYKLTAYSLYAAVSVGLQTSDITEYLRKLSKTGVPDGIMQFIKLCT
                     VSYGKVKLVLKHNRYFVESCHPDVIQHLLQDPVIRECRLRNSEGEATELITETFTSKS
                     AISKTAESSGGPSTSRVTDPQGKSDIPMDLFDFYEQMDKDEEEEEETQTVSFEVKQEM
                     IEELQKRCIHLEYPLLAEYDFRNDSVNPDINIDLKPTAVLRPYQEKSLRKMFGNGRAR
                     SGVIVLPCGAGKSLVGVTAACTVRKRCLVLGNSAVSVEQWKAQFKMWSTIDDSQICRF
                     TSDAKDKPIGCSVAISTYSMLGHTTKRSWEAERVMEWLKTQEWGLMILDEVHTIPAKM
                     FRRVLTIVQAHCKLGLTATLVREDDKIVDLNFLIGPKLYEANWMELQNNGYIAKVQCA
                     EVWCPMSPEFYREYVAIKTKKRILLYTMNPNKFRACQFLIKFHERRNDKIIVFADNVF
                     ALKEYAIRLNKPYIYGPTSQGERMQILQNFKHNPKINTIFISKVGDTSFDLPEANVLI
                     QISSHGGSRRQEAQRLGRVLRAKKGMVAEEYNAFFYSLVSQDTQEMAYSTKRQRFLVD
                     QGYSFKVITKLAGMEEEDLAFSTKEEQQQLLQKVLAATDLDAEEEVVAGEFGSRSSQA
                     SRRFGTMSSMSGADDTVYMEYHSSRSKAPSKHVHPLFKRFRK"
     exon            92..297
                     /gene="ERCC3"
                     /gene_synonym="BTF2; GTF2H; RAD25; Ssl2; TFIIH; TTD2; XPB"
                     /inference="alignment:Splign:2.1.0"
     exon            298..534
                     /gene="ERCC3"
                     /gene_synonym="BTF2; GTF2H; RAD25; Ssl2; TFIIH; TTD2; XPB"
                     /inference="alignment:Splign:2.1.0"
     exon            535..584
                     /gene="ERCC3"
                     /gene_synonym="BTF2; GTF2H; RAD25; Ssl2; TFIIH; TTD2; XPB"
                     /inference="alignment:Splign:2.1.0"
     exon            585..720
                     /gene="ERCC3"
                     /gene_synonym="BTF2; GTF2H; RAD25; Ssl2; TFIIH; TTD2; XPB"
                     /inference="alignment:Splign:2.1.0"
     exon            721..885
                     /gene="ERCC3"
                     /gene_synonym="BTF2; GTF2H; RAD25; Ssl2; TFIIH; TTD2; XPB"
                     /inference="alignment:Splign:2.1.0"
     exon            886..1090
                     /gene="ERCC3"
                     /gene_synonym="BTF2; GTF2H; RAD25; Ssl2; TFIIH; TTD2; XPB"
                     /inference="alignment:Splign:2.1.0"
     exon            1091..1405
                     /gene="ERCC3"
                     /gene_synonym="BTF2; GTF2H; RAD25; Ssl2; TFIIH; TTD2; XPB"
                     /inference="alignment:Splign:2.1.0"
     exon            1406..1590
                     /gene="ERCC3"
                     /gene_synonym="BTF2; GTF2H; RAD25; Ssl2; TFIIH; TTD2; XPB"
                     /inference="alignment:Splign:2.1.0"
     exon            1591..1793
                     /gene="ERCC3"
                     /gene_synonym="BTF2; GTF2H; RAD25; Ssl2; TFIIH; TTD2; XPB"
                     /inference="alignment:Splign:2.1.0"
     exon            1794..1890
                     /gene="ERCC3"
                     /gene_synonym="BTF2; GTF2H; RAD25; Ssl2; TFIIH; TTD2; XPB"
                     /inference="alignment:Splign:2.1.0"
     exon            1891..2008
                     /gene="ERCC3"
                     /gene_synonym="BTF2; GTF2H; RAD25; Ssl2; TFIIH; TTD2; XPB"
                     /inference="alignment:Splign:2.1.0"
     exon            2009..2127
                     /gene="ERCC3"
                     /gene_synonym="BTF2; GTF2H; RAD25; Ssl2; TFIIH; TTD2; XPB"
                     /inference="alignment:Splign:2.1.0"
     exon            2128..2280
                     /gene="ERCC3"
                     /gene_synonym="BTF2; GTF2H; RAD25; Ssl2; TFIIH; TTD2; XPB"
                     /inference="alignment:Splign:2.1.0"
     exon            2281..2718
                     /gene="ERCC3"
                     /gene_synonym="BTF2; GTF2H; RAD25; Ssl2; TFIIH; TTD2; XPB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2691..2696
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ERCC3"
                     /gene_synonym="BTF2; GTF2H; RAD25; Ssl2; TFIIH; TTD2; XPB"
                     /note="hexamer: AATAAA"
     polyA_site      2718
                     /gene="ERCC3"
                     /gene_synonym="BTF2; GTF2H; RAD25; Ssl2; TFIIH; TTD2; XPB"
                     /note="major polyA site"
ORIGIN      
        1 agagcggatg ccgcggcggg cctgtgggag cggggtcatc ttctctctgc tgctgtagct
       61 gccatgggca aaagagaccg agcggaccgc gacaagaaga aatccaggaa gcggcactat
      121 gaggatgaag aggatgatga agaggacgcc ccggggaacg accctcagga agcggttccc
      181 tcggcggcgg ggaagcaggt ggatgagtca ggcaccaaag tggatgaata tggagccaag
      241 gactacaggc tgcaaatgcc gctgaaggac gaccacacct ccaggcccct ctgggtggct
      301 cccgatggcc atatcttctt ggaagccttc tctccagttt acaaatatgc ccaagacttc
      361 ttggtggcta ttgcagagcc agtgtgccga ccaacccatg tgcatgagta caaactaact
      421 gcctactcct tgtatgcagc tgtcagcgtt gggctgcaaa ccagtgacat caccgagtac
      481 ctcaggaagc tcagcaagac tggagtccct gatggaatta tgcagtttat taagttgtgt
      541 actgtcagct atggaaaagt caagctggtc ttgaagcaca acagatactt cgttgaaagt
      601 tgccaccctg atgtaatcca gcatcttctc caggaccccg tgatccgaga atgccgctta
      661 agaaactctg aaggggaggc cactgagctc atcacagaga ctttcacaag caaatctgcc
      721 atttctaaga ctgctgaaag cagtggtggg ccctccactt cccgagtgac agatccacag
      781 ggtaaatctg acatccccat ggacctgttt gacttctatg agcaaatgga caaggatgaa
      841 gaagaagaag aagagacaca gacagtgtct tttgaagtca agcaggaaat gattgaggaa
      901 ctccagaaac gttgcatcca cctggagtac cctctgttgg cagaatatga cttccggaat
      961 gattctgtca accctgatat caacattgac ctaaagccca cagctgtcct cagaccctat
     1021 caggagaaga gcttgcgaaa gatgtttgga aacgggcgtg cacgttcggg ggtcattgtt
     1081 cttccctgcg gtgctggaaa gtccctggtt ggtgtgactg ctgcatgcac tgtcagaaaa
     1141 cgctgtctgg tgctgggcaa ctcagctgtt tctgtggagc agtggaaagc ccagttcaag
     1201 atgtggtcca ccattgacga cagccagatc tgccggttca cctccgatgc caaggacaag
     1261 cccatcggct gctccgttgc cattagcacc tactccatgc tgggccacac caccaaaagg
     1321 tcctgggagg ccgagcgagt catggagtgg ctcaagaccc aggagtgggg cctcatgatc
     1381 ctggatgaag tgcacaccat accagccaag atgttccgaa gggtgctcac catcgtgcag
     1441 gcccactgta agctgggttt gactgcgacc ctcgtccgcg aagatgacaa aattgtggat
     1501 ttaaattttc tgattgggcc taagctctac gaagccaact ggatggagct gcagaataat
     1561 ggctacatcg ccaaagtcca gtgtgctgag gtctggtgcc ctatgtctcc tgaattttac
     1621 cgggaatatg tggcaatcaa aaccaagaaa cgaatcttgc tgtacaccat gaaccccaac
     1681 aaatttagag cttgccagtt tctgatcaag tttcatgaaa ggaggaatga caagattatt
     1741 gtctttgctg acaatgtgtt tgccctaaag gaatatgcca ttcgactgaa caaaccctat
     1801 atctacggac ctacgtctca gggggaaagg atgcaaattc tccagaattt caagcacaac
     1861 cccaaaatta acaccatctt catatccaag gtaggtgaca cttcgtttga tctgccggaa
     1921 gcaaatgtcc tcattcagat ctcatcccat ggtggctcca ggcgtcagga agcccaaagg
     1981 ctagggcggg tgcttcgagc taaaaaaggg atggttgcag aagagtacaa tgcctttttc
     2041 tactcactgg tatcccagga cacacaggaa atggcttact caaccaagcg gcagagattc
     2101 ttggtagatc aaggttatag cttcaaggtg atcacgaaac tcgctggcat ggaggaggaa
     2161 gacttggcgt tttcgacaaa agaagagcaa cagcagctct tacagaaagt cctggcagcc
     2221 actgacctgg atgccgagga ggaggtggtg gctggggaat ttggctccag atccagccag
     2281 gcatctcggc gctttggcac catgagttct atgtctgggg ccgacgacac tgtgtacatg
     2341 gagtaccact catcgcggag caaggcgccc agcaaacatg tacacccgct cttcaagcgc
     2401 tttaggaaat gatgcttagg cagggtactt cgttcaagac cggcgcttgg cacccttgtt
     2461 ggaaagggat tttcagcata acattttcct tccacctctt tgaccttccc tccagcgttg
     2521 gccaaattgt gctgaggaag atgcatcaag ggcttggctg tgccttcata ggtcatctag
     2581 ggttttataa aggaggagga gacaatattt tttcaaactt tttggggagt ggggtcattt
     2641 ctgtatataa aaaatgttaa tatttaaggt gtatttatgt taccgttctg aataaacaga
     2701 atggaccatt gaaccagt
//
