LOCUS       NM_005316               3012 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens general transcription factor IIH subunit 1 (GTF2H1),
            transcript variant 1, mRNA.
ACCESSION   NM_005316
VERSION     NM_005316.4
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 3012)
  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 3012)
  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 3012)
  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 3012)
  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 3012)
  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 3012)
  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 3012)
  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 3012)
  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 3012)
  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 3012)
  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
            AC084117.6, M95809.1, BC004452.1 and AI275181.1.
            
            On Nov 23, 2018 this sequence version replaced NM_005316.3.
            
            Transcript Variant: This variant (1) represents the shorter
            transcript.
            
            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 :: SRR1803611.142593.1,
                                           SRR1660803.186574.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000265963.9/ ENSP00000265963.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-135               AC084117.6         30941-31075
            136-2028            M95809.1           1-1893
            2029-2877           BC004452.1         2000-2848
            2878-3010           AI275181.1         1-133               c
            3011-3012           AC084117.6         75418-75419
FEATURES             Location/Qualifiers
     source          1..3012
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.1"
     gene            1..3012
                     /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..343
                     /gene="GTF2H1"
                     /gene_synonym="BTF2; P62; TFB1; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     CDS             190..1836
                     /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_005307.1"
                     /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            344..536
                     /gene="GTF2H1"
                     /gene_synonym="BTF2; P62; TFB1; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            537..702
                     /gene="GTF2H1"
                     /gene_synonym="BTF2; P62; TFB1; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            703..796
                     /gene="GTF2H1"
                     /gene_synonym="BTF2; P62; TFB1; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            797..946
                     /gene="GTF2H1"
                     /gene_synonym="BTF2; P62; TFB1; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            947..1026
                     /gene="GTF2H1"
                     /gene_synonym="BTF2; P62; TFB1; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1027..1154
                     /gene="GTF2H1"
                     /gene_synonym="BTF2; P62; TFB1; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1155..1242
                     /gene="GTF2H1"
                     /gene_synonym="BTF2; P62; TFB1; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1243..1331
                     /gene="GTF2H1"
                     /gene_synonym="BTF2; P62; TFB1; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1332..1449
                     /gene="GTF2H1"
                     /gene_synonym="BTF2; P62; TFB1; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1450..1540
                     /gene="GTF2H1"
                     /gene_synonym="BTF2; P62; TFB1; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1541..1656
                     /gene="GTF2H1"
                     /gene_synonym="BTF2; P62; TFB1; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1657..1749
                     /gene="GTF2H1"
                     /gene_synonym="BTF2; P62; TFB1; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1750..3012
                     /gene="GTF2H1"
                     /gene_synonym="BTF2; P62; TFB1; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2192..2197
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTF2H1"
                     /gene_synonym="BTF2; P62; TFB1; TFIIH"
                     /note="hexamer: ATTAAA"
     polyA_site      2228
                     /gene="GTF2H1"
                     /gene_synonym="BTF2; P62; TFB1; TFIIH"
                     /note="major polyA site"
     regulatory      2762..2767
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTF2H1"
                     /gene_synonym="BTF2; P62; TFB1; TFIIH"
                     /note="hexamer: AATAAA"
     polyA_site      2781
                     /gene="GTF2H1"
                     /gene_synonym="BTF2; P62; TFB1; TFIIH"
     regulatory      2978..2983
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTF2H1"
                     /gene_synonym="BTF2; P62; TFB1; TFIIH"
                     /note="hexamer: AGTAAA"
     polyA_site      3012
                     /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 cctgcacctt
      181 ctagccacca tggcaacctc atctgaagaa gttttgctga ttgtaaagaa agtgcgtcaa
      241 aagaagcagg atggagctct gtacctcatg gcagaaagaa ttgcttgggc acctgaaggc
      301 aaagatagat ttacaatcag ccatatgtat gcagatatta aatgccagaa aattagtcca
      361 gaaggaaaag ctaaaattca gcttcagctg gtcctacatg caggggacac aactaacttc
      421 catttttcca atgaaagcac agcagtgaaa gagcgagatg cagtaaaaga ccttcttcag
      481 cagctgctgc ccaaattcaa gaggaaagca aataaagaac tggaagagaa gaacagaatg
      541 ctgcaagaag atcctgtttt gtttcagctt tataaagacc ttgttgtgag tcaagtgatc
      601 agtgctgagg aattctgggc caatcgttta aatgtgaatg caacagatag ttcttccaca
      661 tccaatcata agcaggatgt tggcatttct gctgcatttc tggctgatgt ccggccccaa
      721 actgatggct gtaacggtct aagatataat ttaacttctg atatcattga gtccatattt
      781 aggacctatc cagcagtaaa aatgaaatat gcagaaaatg ttccccacaa catgacagag
      841 aaggaattct ggacacgttt tttccagtcc cattattttc acagggatcg gctgaataca
      901 gggtcaaagg atctctttgc agaatgtgcc aaaatagatg aaaaaggcct aaaaacaatg
      961 gtttcattag gagtgaaaaa cccactacta gatttaacag ctttggaaga taaaccatta
     1021 gatgagggct atggcatttc ctctgtgcca tctgcttcca attctaaatc cataaaagag
     1081 aatagtaatg ctgccatcat caagagattt aaccatcaca gtgccatggt cctggcagct
     1141 ggactcagaa aacaagaagc acaaaatgaa caaactagtg agcccagcaa catggatgga
     1201 aattccggag atgcagactg ctttcagcca gcagtcaaaa gggcgaaatt acaagagtcc
     1261 attgaatatg aagacttggg gaaaaataat tctgtaaaaa cgattgcact aaacctcaag
     1321 aagtcagata ggtattatca tggtccaact ccaatccagt cactacagta tgcaacaagt
     1381 caggacatta ttaattcttt tcaaagtatt agacaagaaa tggaagctta tacacccaag
     1441 ttaactcagg ttctctcaag tagtgctgcc agtagtacca tcacagcact gtcacctgga
     1501 ggggcactta tgcagggagg aacacagcaa gccataaacc agatggtgcc aaatgatatt
     1561 caatctgaat tgaaacactt atatgtagct gttggagaac ttctacgaca tttctggtcc
     1621 tgctttcctg ttaatacgcc attcctagaa gaaaaggtag tgaaaatgaa aagtaatttg
     1681 gaacgattcc aagttacgaa gctctgtcca ttccaagaaa agattcggag acagtattta
     1741 agcacaaatt tggtaagtca catagaagag atgctccaga cagcctacaa caagctccac
     1801 acatggcagt cacggcgtct gatgaagaaa acgtgaggtg gccatgatgc ttacaggttt
     1861 tgtgagattg agagaactat gacctgcagc aactctggaa acctggcctg acagacaagc
     1921 agatgacctc acaggagtga taagaaacat ctgctccacg ccaactccca gagctgatgc
     1981 tattgtactt gcacattgga gactgaaagg aaagaaggga ctaaatgctg gggaggtaaa
     2041 ttaagacaga accaaatgag ctaagttgca aatatatata tatacacaca cacacatata
     2101 tgtacatgtg tatgtacata tatattttaa aagactgttt actgcagttg ctcaggaact
     2161 gcttttgatt cacattaagc tgctttcaga aattaaaaaa acacttttta aagggtgcat
     2221 tgataaaatc tgaggttttt tggttgtcgt ttttttctgt gtacattttt ttcctaagtt
     2281 tatggcacag ggtagacctt aagtattcct cctccatcct tcattcttca ccctccattg
     2341 gatcctcaag ttttaatgaa ttccaattat accttacatc agcaagttaa aaaaagtact
     2401 ttaaaataaa gcaaagggag actgttgctc aaccatcagg aaacagttgt cagaagacat
     2461 cattggttct gtgtttccta cggaaataag aaacgataaa tattgcactg aatgtttgtg
     2521 gtttggagtc cctgaataat aaagagggaa tatatttgca gaaagtcgca tagggttttt
     2581 taatgcagaa ttttgtcaga agacaatggc gctgcatgtt tttctttgag tgcaaatgta
     2641 cattgctaag atttttttaa gatggcatgt gctttgaaaa gaagatattg catttttaag
     2701 agtttaaaaa tcttatgagt gagaaatatt aaaaaaatct tattttcacc tctttagaag
     2761 aaataaaaga tgtttctcct atctcctttt ctctagtatt tgactgttac tgtccttggc
     2821 gaatcgataa tcattgcata gtgactgaaa agcctaagtg caaaaaaaaa aaaaaaagat
     2881 gttcttgttt ctgaacttcg tgccatattt tgttcctgat gggatcaact taatgtttaa
     2941 gactttagat gtcttgtatt aaaaattaca caaaaaaagt aaaacttttt atacttaccc
     3001 ttttaactct aa
//
