LOCUS       NM_001142307            3219 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens general transcription factor IIH subunit 1 (GTF2H1),
            transcript variant 2, mRNA.
ACCESSION   NM_001142307
VERSION     NM_001142307.2
KEYWORDS    RefSeq.
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 3219)
  AUTHORS   Mistry,H., Kumari,S., Aswal,V.K. and Gupta,G.D.
  TITLE     Structural characterization of transcription-coupled repair protein
            UVSSA and its interaction with TFIIH protein
  JOURNAL   Int J Biol Macromol 247, 125792 (2023)
   PUBMED   37442507
  REMARK    GeneRIF: Structural characterization of transcription-coupled
            repair protein UVSSA and its interaction with TFIIH protein.
REFERENCE   2  (bases 1 to 3219)
  AUTHORS   Geng,T., Li,M., Chen,R., Yang,S., Jin,G., Jin,T. and Chen,F.
  TITLE     Impact of GTF2H1 and RAD54L2 polymorphisms on the risk of lung
            cancer in the Chinese Han population
  JOURNAL   BMC Cancer 22 (1), 1181 (2022)
   PUBMED   36384536
  REMARK    GeneRIF: Impact of GTF2H1 and RAD54L2 polymorphisms on the risk of
            lung cancer in the Chinese Han population.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3219)
  AUTHORS   Okuda,M., Suwa,T., Suzuki,H., Yamaguchi,Y. and Nishimura,Y.
  TITLE     Three human RNA polymerases interact with TFIIH via a common RPB6
            subunit
  JOURNAL   Nucleic Acids Res 50 (1), 1-16 (2022)
   PUBMED   34268577
  REMARK    GeneRIF: Three human RNA polymerases interact with TFIIH via a
            common RPB6 subunit.
REFERENCE   4  (bases 1 to 3219)
  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   5  (bases 1 to 3219)
  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   6  (bases 1 to 3219)
  AUTHORS   Tong,X., Drapkin,R., Reinberg,D. and Kieff,E.
  TITLE     The 62- and 80-kDa subunits of transcription factor IIH mediate the
            interaction with Epstein-Barr virus nuclear protein 2
  JOURNAL   Proc Natl Acad Sci U S A 92 (8), 3259-3263 (1995)
   PUBMED   7724549
REFERENCE   7  (bases 1 to 3219)
  AUTHORS   Shiekhattar,R., Mermelstein,F., Fisher,R.P., Drapkin,R.,
            Dynlacht,B., Wessling,H.C., Morgan,D.O. and Reinberg,D.
  TITLE     Cdk-activating kinase complex is a component of human transcription
            factor TFIIH
  JOURNAL   Nature 374 (6519), 283-287 (1995)
   PUBMED   7533895
REFERENCE   8  (bases 1 to 3219)
  AUTHORS   Fischer,L., Gerard,M., Chalut,C., Lutz,Y., Humbert,S., Kanno,M.,
            Chambon,P. and Egly,J.M.
  TITLE     Cloning of the 62-kilodalton component of basic transcription
            factor BTF2
  JOURNAL   Science 257 (5075), 1392-1395 (1992)
   PUBMED   1529339
REFERENCE   9  (bases 1 to 3219)
  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   10 (bases 1 to 3219)
  AUTHORS   Conaway,R.C. and Conaway,J.W.
  TITLE     ATP activates transcription initiation from promoters by RNA
            polymerase II in a reversible step prior to RNA synthesis
  JOURNAL   J Biol Chem 263 (6), 2962-2968 (1988)
   PUBMED   2449431
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK027003.1, BC004452.1, AI275181.1 and AC084117.6.
            
            On Aug 13, 2020 this sequence version replaced NM_001142307.1.
            
            Transcript Variant: This variant (2) differs in the 5' UTR,
            compared to variant 1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            transcript and genomic sequence to make the sequence consistent
            with the reference genome assembly. The extent of this RefSeq
            transcript is supported by 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 :: AK027003.1, SRR14038192.3417331.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1269              AK027003.1         290-1558
            1270-3084           BC004452.1         1034-2848
            3085-3217           AI275181.1         1-133               c
            3218-3219           AC084117.6         75418-75419
FEATURES             Location/Qualifiers
     source          1..3219
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.1"
     gene            1..3219
                     /gene="GTF2H1"
                     /gene_synonym="BTF2; P62; TFB1; TFIIH"
                     /note="general transcription factor IIH subunit 1"
                     /db_xref="GeneID:2965"
                     /db_xref="HGNC:HGNC:4655"
                     /db_xref="MIM:189972"
     exon            1..174
                     /gene="GTF2H1"
                     /gene_synonym="BTF2; P62; TFB1; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            175..381
                     /gene="GTF2H1"
                     /gene_synonym="BTF2; P62; TFB1; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            382..550
                     /gene="GTF2H1"
                     /gene_synonym="BTF2; P62; TFB1; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     CDS             397..2043
                     /gene="GTF2H1"
                     /gene_synonym="BTF2; P62; TFB1; TFIIH"
                     /note="BTF2 p62; basic transcription factor 2 62 kDa
                     subunit; general transcription factor IIH polypeptide 1;
                     TFIIH basal transcription factor complex p62 subunit;
                     general transcription factor IIH, polypeptide 1, 62kDa;
                     epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="general transcription factor IIH subunit 1"
                     /protein_id="NP_001135779.1"
                     /db_xref="CCDS:CCDS7838.1"
                     /db_xref="GeneID:2965"
                     /db_xref="HGNC:HGNC:4655"
                     /db_xref="MIM:189972"
                     /translation="MATSSEEVLLIVKKVRQKKQDGALYLMAERIAWAPEGKDRFTIS
                     HMYADIKCQKISPEGKAKIQLQLVLHAGDTTNFHFSNESTAVKERDAVKDLLQQLLPK
                     FKRKANKELEEKNRMLQEDPVLFQLYKDLVVSQVISAEEFWANRLNVNATDSSSTSNH
                     KQDVGISAAFLADVRPQTDGCNGLRYNLTSDIIESIFRTYPAVKMKYAENVPHNMTEK
                     EFWTRFFQSHYFHRDRLNTGSKDLFAECAKIDEKGLKTMVSLGVKNPLLDLTALEDKP
                     LDEGYGISSVPSASNSKSIKENSNAAIIKRFNHHSAMVLAAGLRKQEAQNEQTSEPSN
                     MDGNSGDADCFQPAVKRAKLQESIEYEDLGKNNSVKTIALNLKKSDRYYHGPTPIQSL
                     QYATSQDIINSFQSIRQEMEAYTPKLTQVLSSSAASSTITALSPGGALMQGGTQQAIN
                     QMVPNDIQSELKHLYVAVGELLRHFWSCFPVNTPFLEEKVVKMKSNLERFQVTKLCPF
                     QEKIRRQYLSTNLVSHIEEMLQTAYNKLHTWQSRRLMKKT"
     exon            551..743
                     /gene="GTF2H1"
                     /gene_synonym="BTF2; P62; TFB1; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            744..909
                     /gene="GTF2H1"
                     /gene_synonym="BTF2; P62; TFB1; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            910..1003
                     /gene="GTF2H1"
                     /gene_synonym="BTF2; P62; TFB1; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1004..1153
                     /gene="GTF2H1"
                     /gene_synonym="BTF2; P62; TFB1; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1154..1233
                     /gene="GTF2H1"
                     /gene_synonym="BTF2; P62; TFB1; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1234..1361
                     /gene="GTF2H1"
                     /gene_synonym="BTF2; P62; TFB1; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1362..1449
                     /gene="GTF2H1"
                     /gene_synonym="BTF2; P62; TFB1; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1450..1538
                     /gene="GTF2H1"
                     /gene_synonym="BTF2; P62; TFB1; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1539..1656
                     /gene="GTF2H1"
                     /gene_synonym="BTF2; P62; TFB1; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1657..1747
                     /gene="GTF2H1"
                     /gene_synonym="BTF2; P62; TFB1; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1748..1863
                     /gene="GTF2H1"
                     /gene_synonym="BTF2; P62; TFB1; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1864..1956
                     /gene="GTF2H1"
                     /gene_synonym="BTF2; P62; TFB1; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1957..3219
                     /gene="GTF2H1"
                     /gene_synonym="BTF2; P62; TFB1; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2399..2404
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTF2H1"
                     /gene_synonym="BTF2; P62; TFB1; TFIIH"
                     /note="hexamer: ATTAAA"
     polyA_site      2435
                     /gene="GTF2H1"
                     /gene_synonym="BTF2; P62; TFB1; TFIIH"
                     /note="major polyA site"
     regulatory      2969..2974
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTF2H1"
                     /gene_synonym="BTF2; P62; TFB1; TFIIH"
                     /note="hexamer: AATAAA"
     polyA_site      2988
                     /gene="GTF2H1"
                     /gene_synonym="BTF2; P62; TFB1; TFIIH"
     regulatory      3185..3190
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTF2H1"
                     /gene_synonym="BTF2; P62; TFB1; TFIIH"
                     /note="hexamer: AGTAAA"
     polyA_site      3219
                     /gene="GTF2H1"
                     /gene_synonym="BTF2; P62; TFB1; TFIIH"
                     /note="major polyA site"
ORIGIN      
        1 agactcctcg cagccagcga tggaggcgag accccctagt aacagaggcg gtggctactg
       61 ctgcggccac tgggtttcgg cctcttccca gcagcggctc taagaagcgc agcggaactc
      121 gaccggatcc aacccagtta gttacttcct gtctagagtt gtagcttcca cctgagttct
      181 cctgggaaga agtgtttgcc actcaaggaa tacactcaag aaaaacctgg aaatcacaga
      241 aggcattgta agatagctac agtgattctg ttaaacctcc tgaaattggt ccttgaacaa
      301 ttaagaggtg ctacagatga ccaggaaaat ttaccaggca aattagctgt gagacaattg
      361 accatttgtg cccaatgttc gcaccttcta gccaccatgg caacctcatc tgaagaagtt
      421 ttgctgattg taaagaaagt gcgtcaaaag aagcaggatg gagctctgta cctcatggca
      481 gaaagaattg cttgggcacc tgaaggcaaa gatagattta caatcagcca tatgtatgca
      541 gatattaaat gccagaaaat tagtccagaa ggaaaagcta aaattcagct tcagctggtc
      601 ctacatgcag gggacacaac taacttccat ttttccaatg aaagcacagc agtgaaagag
      661 cgagatgcag taaaagacct tcttcagcag ctgctgccca aattcaagag gaaagcaaat
      721 aaagaactgg aagagaagaa cagaatgctg caagaagatc ctgttttgtt tcagctttat
      781 aaagaccttg ttgtgagtca agtgatcagt gctgaggaat tctgggccaa tcgtttaaat
      841 gtgaatgcaa cagatagttc ttccacatcc aatcataagc aggatgttgg catttctgct
      901 gcatttctgg ctgatgtccg gccccaaact gatggctgta acggtctaag atataattta
      961 acttctgata tcattgagtc catatttagg acctatccag cagtaaaaat gaaatatgca
     1021 gaaaatgttc cccacaacat gacagagaag gaattctgga cacgtttttt ccagtcccat
     1081 tattttcaca gggatcggct gaatacaggg tcaaaggatc tctttgcaga atgtgccaaa
     1141 atagatgaaa aaggcctaaa aacaatggtt tcattaggag tgaaaaaccc actactagat
     1201 ttaacagctt tggaagataa accattagat gagggctatg gcatttcctc tgtgccatct
     1261 gcttccaatt ctaaatccat aaaagagaat agtaatgctg ccatcatcaa gagatttaac
     1321 catcacagtg ccatggtcct ggcagctgga ctcagaaaac aagaagcaca aaatgaacaa
     1381 actagtgagc ccagcaacat ggatggaaat tccggagatg cagactgctt tcagccagca
     1441 gtcaaaaggg cgaaattaca agagtccatt gaatatgaag acttggggaa aaataattct
     1501 gtaaaaacga ttgcactaaa cctcaagaag tcagataggt attatcatgg tccaactcca
     1561 atccagtcac tacagtatgc aacaagtcag gacattatta attcttttca aagtattaga
     1621 caagaaatgg aagcttatac acccaagtta actcaggttc tctcaagtag tgctgccagt
     1681 agtaccatca cagcactgtc acctggaggg gcacttatgc agggaggaac acagcaagcc
     1741 ataaaccaga tggtgccaaa tgatattcaa tctgaattga aacacttata tgtagctgtt
     1801 ggagaacttc tacgacattt ctggtcctgc tttcctgtta atacgccatt cctagaagaa
     1861 aaggtagtga aaatgaaaag taatttggaa cgattccaag ttacgaagct ctgtccattc
     1921 caagaaaaga ttcggagaca gtatttaagc acaaatttgg taagtcacat agaagagatg
     1981 ctccagacag cctacaacaa gctccacaca tggcagtcac ggcgtctgat gaagaaaacg
     2041 tgaggtggcc atgatgctta caggttttgt gagattgaga gaactatgac ctgcagcaac
     2101 tctggaaacc tggcctgaca gacaagcaga tgacctcaca ggagtgataa gaaacatctg
     2161 ctccacgcca actcccagag ctgatgctat tgtacttgca cattggagac tgaaaggaaa
     2221 gaagggacta aatgctgggg aggtaaatta agacagaacc aaatgagcta agttgcaaat
     2281 atatatatat acacacacac acatatatgt acatgtgtat gtacatatat attttaaaag
     2341 actgtttact gcagttgctc aggaactgct tttgattcac attaagctgc tttcagaaat
     2401 taaaaaaaca ctttttaaag ggtgcattga taaaatctga ggttttttgg ttgtcgtttt
     2461 tttctgtgta catttttttc ctaagtttat ggcacagggt agaccttaag tattcctcct
     2521 ccatccttca ttcttcaccc tccattggat cctcaagttt taatgaattc caattatacc
     2581 ttacatcagc aagttaaaaa aagtacttta aaataaagca aagggagact gttgctcaac
     2641 catcaggaaa cagttgtcag aagacatcat tggttctgtg tttcctacgg aaataagaaa
     2701 cgataaatat tgcactgaat gtttgtggtt tggagtccct gaataataaa gagggaatat
     2761 atttgcagaa agtcgcatag ggttttttaa tgcagaattt tgtcagaaga caatggcgct
     2821 gcatgttttt ctttgagtgc aaatgtacat tgctaagatt tttttaagat ggcatgtgct
     2881 ttgaaaagaa gatattgcat ttttaagagt ttaaaaatct tatgagtgag aaatattaaa
     2941 aaaatcttat tttcacctct ttagaagaaa taaaagatgt ttctcctatc tccttttctc
     3001 tagtatttga ctgttactgt ccttggcgaa tcgataatca ttgcatagtg actgaaaagc
     3061 ctaagtgcaa aaaaaaaaaa aaaagatgtt cttgtttctg aacttcgtgc catattttgt
     3121 tcctgatggg atcaacttaa tgtttaagac tttagatgtc ttgtattaaa aattacacaa
     3181 aaaaagtaaa actttttata cttacccttt taactctaa
//
