LOCUS       NM_001516               3327 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens general transcription factor IIH subunit 3 (GTF2H3),
            transcript variant 1, mRNA.
ACCESSION   NM_001516
VERSION     NM_001516.5
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 3327)
  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   2  (bases 1 to 3327)
  AUTHORS   Radu,L., Schoenwetter,E., Braun,C., Marcoux,J., Koelmel,W.,
            Schmitt,D.R., Kuper,J., Cianferani,S., Egly,J.M., Poterszman,A. and
            Kisker,C.
  TITLE     The intricate network between the p34 and p44 subunits is central
            to the activity of the transcription/DNA repair factor TFIIH
  JOURNAL   Nucleic Acids Res 45 (18), 10872-10883 (2017)
   PUBMED   28977422
  REMARK    GeneRIF: interface variants between the p34 and p44 subunits only
            mildly affected the association between the full length proteins
            and did not impinge on TFIIH activities due to the presence of an
            additional interface involving the C4 domain of p34.
REFERENCE   3  (bases 1 to 3327)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   4  (bases 1 to 3327)
  AUTHORS   He,Y., Yan,C., Fang,J., Inouye,C., Tjian,R., Ivanov,I. and
            Nogales,E.
  TITLE     Near-atomic resolution visualization of human transcription
            promoter opening
  JOURNAL   Nature 533 (7603), 359-365 (2016)
   PUBMED   27193682
REFERENCE   5  (bases 1 to 3327)
  AUTHORS   Marcon,E., Ni,Z., Pu,S., Turinsky,A.L., Trimble,S.S., Olsen,J.B.,
            Silverman-Gavrila,R., Silverman-Gavrila,L., Phanse,S., Guo,H.,
            Zhong,G., Guo,X., Young,P., Bailey,S., Roudeva,D., Zhao,D.,
            Hewel,J., Li,J., Graslund,S., Paduch,M., Kossiakoff,A.A.,
            Lupien,M., Emili,A., Wodak,S.J. and Greenblatt,J.
  TITLE     Human-chromatin-related protein interactions identify a demethylase
            complex required for chromosome segregation
  JOURNAL   Cell Rep 8 (1), 297-310 (2014)
   PUBMED   24981860
REFERENCE   6  (bases 1 to 3327)
  AUTHORS   Blau,J., Xiao,H., McCracken,S., O'Hare,P., Greenblatt,J. and
            Bentley,D.
  TITLE     Three functional classes of transcriptional activation domain
  JOURNAL   Mol Cell Biol 16 (5), 2044-2055 (1996)
   PUBMED   8628270
REFERENCE   7  (bases 1 to 3327)
  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   8  (bases 1 to 3327)
  AUTHORS   Humbert,S., van Vuuren,H., Lutz,Y., Hoeijmakers,J.H., Egly,J.M. and
            Moncollin,V.
  TITLE     p44 and p34 subunits of the BTF2/TFIIH transcription factor have
            homologies with SSL1, a yeast protein involved in DNA repair
  JOURNAL   EMBO J 13 (10), 2393-2398 (1994)
   PUBMED   8194529
REFERENCE   9  (bases 1 to 3327)
  AUTHORS   Schaeffer,L., Roy,R., Humbert,S., Moncollin,V., Vermeulen,W.,
            Hoeijmakers,J.H., Chambon,P. and Egly,J.M.
  TITLE     DNA repair helicase: a component of BTF2 (TFIIH) basic
            transcription factor
  JOURNAL   Science 260 (5104), 58-63 (1993)
   PUBMED   8465201
REFERENCE   10 (bases 1 to 3327)
  AUTHORS   Gerard,M., Fischer,L., Moncollin,V., Chipoulet,J.M., Chambon,P. and
            Egly,J.M.
  TITLE     Purification and interaction properties of the human RNA polymerase
            B(II) general transcription factor BTF2
  JOURNAL   J Biol Chem 266 (31), 20940-20945 (1991)
   PUBMED   1939143
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK313200.1, BC039726.2,
            AC117503.8, CB955773.1, BM013501.1 and CA306634.1.
            
            On Nov 24, 2018 this sequence version replaced NM_001516.4.
            
            Summary: This gene encodes a member of the TFB4 family. The encoded
            protein is a subunit of the core-TFIIH basal transcription factor
            and localizes to the nucleus. The encoded protein is involved in
            RNA transcription by RNA polymerase II and nucleotide excision
            repair and associates with the Cdk-activating kinase complex.
            Alternative splicing results in multiple transcript variants. A
            related pseudogene has been identified on chromosome 14. [provided
            by RefSeq, Dec 2012].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest 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 :: AK313200.1, SRR1660807.112180.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000543341.7/ ENSP00000445162.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-958               AK313200.1         1-958
            959-2375            BC039726.2         915-2331
            2376-2425           AC117503.8         164807-164856       c
            2426-2531           CB955773.1         1-106
            2532-2605           BM013501.1         542-615
            2606-2861           CB955773.1         181-436
            2862-3327           CA306634.1         18-483              c
FEATURES             Location/Qualifiers
     source          1..3327
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     gene            1..3327
                     /gene="GTF2H3"
                     /gene_synonym="BTF2; P34; TFB4; TFIIH"
                     /note="general transcription factor IIH subunit 3"
                     /db_xref="GeneID:2967"
                     /db_xref="HGNC:HGNC:4657"
                     /db_xref="MIM:601750"
     exon            1..44
                     /gene="GTF2H3"
                     /gene_synonym="BTF2; P34; TFB4; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     CDS             32..958
                     /gene="GTF2H3"
                     /gene_synonym="BTF2; P34; TFB4; TFIIH"
                     /note="isoform a is encoded by transcript variant 1; basic
                     transcription factor 2 34 kDa subunit; TFIIH basal
                     transcription factor complex p34 subunit; general
                     transcription factor IIH, polypeptide 3, 34kDa"
                     /codon_start=1
                     /product="general transcription factor IIH subunit 3
                     isoform a"
                     /protein_id="NP_001507.2"
                     /db_xref="CCDS:CCDS9252.1"
                     /db_xref="GeneID:2967"
                     /db_xref="HGNC:HGNC:4657"
                     /db_xref="MIM:601750"
                     /translation="MVSDEDELNLLVIVVDANPIWWGKQALKESQFTLSKCIDAVMVL
                     GNSHLFMNRSNKLAVIASHIQESRFLYPGKNGRLGDFFGDPGNPPEFNPSGSKDGKYE
                     LLTSANEVIVEEIKDLMTKSDIKGQHTETLLAGSLAKALCYIHRMNKEVKDNQEMKSR
                     ILVIKAAEDSALQYMNFMNVIFAAQKQNILIDACVLDSDSGLLQQACDITGGLYLKVP
                     QMPSLLQYLLWVFLPDQDQRSQLILPPPVHVDYRAACFCHRNLIEIGYVCSVCLSIFC
                     NFSPICTTCETAFKISLPPVLKAKKKKLKVSA"
     exon            45..124
                     /gene="GTF2H3"
                     /gene_synonym="BTF2; P34; TFB4; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            125..231
                     /gene="GTF2H3"
                     /gene_synonym="BTF2; P34; TFB4; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            232..395
                     /gene="GTF2H3"
                     /gene_synonym="BTF2; P34; TFB4; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            396..458
                     /gene="GTF2H3"
                     /gene_synonym="BTF2; P34; TFB4; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            459..488
                     /gene="GTF2H3"
                     /gene_synonym="BTF2; P34; TFB4; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            489..517
                     /gene="GTF2H3"
                     /gene_synonym="BTF2; P34; TFB4; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            518..592
                     /gene="GTF2H3"
                     /gene_synonym="BTF2; P34; TFB4; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            593..646
                     /gene="GTF2H3"
                     /gene_synonym="BTF2; P34; TFB4; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            647..715
                     /gene="GTF2H3"
                     /gene_synonym="BTF2; P34; TFB4; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            716..851
                     /gene="GTF2H3"
                     /gene_synonym="BTF2; P34; TFB4; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            852..888
                     /gene="GTF2H3"
                     /gene_synonym="BTF2; P34; TFB4; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            889..3327
                     /gene="GTF2H3"
                     /gene_synonym="BTF2; P34; TFB4; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3171..3176
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTF2H3"
                     /gene_synonym="BTF2; P34; TFB4; TFIIH"
                     /note="hexamer: ATTATA"
     polyA_site      3188
                     /gene="GTF2H3"
                     /gene_synonym="BTF2; P34; TFB4; TFIIH"
                     /note="major polyA site"
     regulatory      3307..3312
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTF2H3"
                     /gene_synonym="BTF2; P34; TFB4; TFIIH"
                     /note="hexamer: AATAAA"
     polyA_site      3327
                     /gene="GTF2H3"
                     /gene_synonym="BTF2; P34; TFB4; TFIIH"
                     /note="major polyA site"
ORIGIN      
        1 acttgctctg cgctgaggtg ctgggacagc catggtttca gacgaagatg aattgaatct
       61 tctggttatt gtagttgatg ccaacccaat ttggtgggga aagcaagcat taaaggaatc
      121 tcagttcact ttatccaaat gcatagatgc cgtgatggtg ctgggaaatt cgcatttatt
      181 catgaatcgt tccaacaaac ttgctgtgat agcaagtcac attcaagaaa gccgattctt
      241 atatcctgga aagaatggca gacttggaga cttcttcgga gaccctggca accctcctga
      301 atttaatccc tctgggagta aagatggaaa atacgaactt ttaacctcag caaatgaagt
      361 tattgttgaa gagattaaag atctaatgac caaaagtgac ataaagggtc aacatacaga
      421 aactttgctg gcaggatccc tggccaaagc cctttgctac attcatagaa tgaacaagga
      481 agttaaagac aatcaggaaa tgaaatcaag gatattggtg attaaggctg cagaagacag
      541 tgcgttgcag tatatgaact tcatgaatgt catctttgca gcacagaaac agaatatttt
      601 gattgatgcc tgtgttttag actccgactc agggctcctc caacaggctt gtgacatcac
      661 gggaggactg tacctgaagg tgcctcagat gccttctctt ctgcagtatt tgctgtgggt
      721 gtttcttccc gatcaagatc agagatctca gttaatcctc ccacccccag ttcatgttga
      781 ctacagggct gcttgcttct gtcatcgaaa tctcattgaa attggttatg tctgttctgt
      841 gtgtttgtca atattctgca atttcagccc catttgtact acgtgcgaga cagcctttaa
      901 aatttctctg cctccagtgc tgaaagccaa gaaaaagaaa ctgaaagtgt ctgcctgagg
      961 ataaaatatt ttccccatct tttagagctg ttaatagaaa ttatatagca gattctttgt
     1021 tgggaagact gaaaaaaata aagataggta taggataatt tttaatatgg tgaccttaca
     1081 gaaaatattt cccaaacatc cttttcatcc tgtgcttctg gaggactgat ttgtttgagg
     1141 gaatcattct atgcattata tcctaaaata ttctatgact ggtttctgtc catgtttgtg
     1201 gctttcattt ttttaatggg atgactatta gtcaaagtca gcttgtcatg actcatcata
     1261 ggctttctaa cctactccct gaatccgggt cctcattgtg aaatgcatgc catacgaaat
     1321 ttgaacgtag ctttggaaaa agggactatt tgtggagtaa tggcattaat caacatagaa
     1381 catcttattt gaatcaacag ttaacttcag tagtcatgtg aataaaattc ttattgtcta
     1441 aattgagaca gcctcagata tttgcagata tttacttttt gtctgatatc agtacatatt
     1501 tggacaaagt catctaaata atagtttgtc accaaataac tacaaaatct cattttaaat
     1561 gagtaaggag aacgtgtaca gaagcaaatt ttcttcaaaa tagttgtggg aagagcttat
     1621 atgtgaaagc ttatgactgg ttttgaggga gaacttactg gagaaaatgg actctatgtt
     1681 aagtatggtt ttcagataga attctttcct tttttaatga ggaaaaaaaa tccacattaa
     1741 tattgaaact gcacctgtaa tcccagcact ttgggaggct gaggacagag gattgcttga
     1801 gcccaggagt tcgagagcag cctgggcagc aaagtgagac cccatctcta ctaaaaattt
     1861 aaatgtattt attaaaactg ttctctagaa gctttggact gaatcccaaa agtgtttata
     1921 agttcaaaag caaaagtatt tgtaatttca acaacaaaaa atgtatttct ttatgtaatc
     1981 ttgaaattat taaaagtcct tttagcttct agcacatatt tgtacaaaga gtttaaggaa
     2041 tggtggctgg tttggtttgt tttttaaaaa tgtttactga cgaggccggg cgtggtggct
     2101 cacccctgca atcccagcac tttgggaggc cgaggcaggc agatcacaag gtcaggagtt
     2161 caagatcagc ctggccagta tggtgaaacc ctgtctctac taaaaataga aaaattagcc
     2221 atgcgaagta gcaggtgcct gtagttccag ctactcggga ggctgaggca agagaattgc
     2281 ttgaatccag gaggcagagg ttgcagtgag ccaagatagc gcctctgtac tccagcctgg
     2341 gtgacagagc gagactctgt atcaaaaaaa aaaaagatcg ggcacgttgg ctcacgcctg
     2401 taatcccagc actttgggag gccaaggtgg gtggatcacg aggtcaggag tgatcaggct
     2461 gggtttctgt tttgttttgt tttgtgagac agagtctcgc tctgttgccc aggctggggt
     2521 gcagtggtgc aagctcggct ctctgcaagc tctgtctcct gggttcacgc cattctcctg
     2581 cctcagcctc ccaagtagct gggattacta ctctactgaa cccatgaggc agaaatttga
     2641 gaccatcctg cccaacgtgg tgaaaacatg gtgaaaccct gtctctacta aaaatacaaa
     2701 aattagctgg gcgtggtggc aggtgcctgt aatcccagct actcaggaga ctgaggcagg
     2761 agaattgctt gaacccagga ggtggaggtt gcagtgagcc aagatcaaga ttgcgccatt
     2821 gcactccagc ctgggcgaca agaacaaaac tctgtctcaa aaaaaaaaaa aaaaaaaaag
     2881 tctgtactga taaaacccat tgtgtacaaa actttgtatg taaggaagat tttaattttc
     2941 tctttataca agctgagtca tatttaaata atttgatgtt ggcttagata atttcagata
     3001 gattttatat tctggatttg tgtttttgtt aacaaatata caaagacttt ggtgatcact
     3061 ttgcaaatat ttgttaatcc ttgagtttga gaacctgtct tttaaaaata atattttgta
     3121 tactaattaa gtgtaatgga aatcacaatt ttaagtctag gaaataaagt attatatata
     3181 ctttcaaaca agctagcaag gcttttatta ttactttttt atttgaaata tcttatatat
     3241 ttggttagtt ctgtttaact tgtttttaac tgttgccctt atgagttatt ttatataaat
     3301 ttttacaata aaataatttg attttca
//
