LOCUS       NM_001517               1712 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens general transcription factor IIH subunit 4 (GTF2H4),
            mRNA.
ACCESSION   NM_001517 XM_378195
VERSION     NM_001517.5
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 1712)
  AUTHORS   Hoag,A., Duan,M. and Mao,P.
  TITLE     The role of Transcription Factor IIH complex in nucleotide excision
            repair
  JOURNAL   Environ Mol Mutagen 65 Suppl 1 (Suppl 1), 72-81 (2024)
   PUBMED   37545038
  REMARK    GeneRIF: The role of Transcription Factor IIH complex in nucleotide
            excision repair.
            Review article
REFERENCE   2  (bases 1 to 1712)
  AUTHORS   Qin,Y., Huttlin,E.L., Winsnes,C.F., Gosztyla,M.L., Wacheul,L.,
            Kelly,M.R., Blue,S.M., Zheng,F., Chen,M., Schaffer,L.V., Licon,K.,
            Backstrom,A., Vaites,L.P., Lee,J.J., Ouyang,W., Liu,S.N., Zhang,T.,
            Silva,E., Park,J., Pitea,A., Kreisberg,J.F., Gygi,S.P., Ma,J.,
            Harper,J.W., Yeo,G.W., Lafontaine,D.L.J., Lundberg,E. and Ideker,T.
  TITLE     A multi-scale map of cell structure fusing protein images and
            interactions
  JOURNAL   Nature 600 (7889), 536-542 (2021)
   PUBMED   34819669
REFERENCE   3  (bases 1 to 1712)
  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   4  (bases 1 to 1712)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 1712)
  AUTHORS   Porter,L.F., Saptarshi,N., Fang,Y., Rathi,S., den Hollander,A.I.,
            de Jong,E.K., Clark,S.J., Bishop,P.N., Olsen,T.W., Liloglou,T.,
            Chavali,V.R.M. and Paraoan,L.
  TITLE     Whole-genome methylation profiling of the retinal pigment
            epithelium of individuals with age-related macular degeneration
            reveals differential methylation of the SKI, GTF2H4, and TNXB genes
  JOURNAL   Clin Epigenetics 11 (1), 6 (2019)
   PUBMED   30642396
  REMARK    GeneRIF: Data demonstrates gene expression changes in
            differentially methylated GTF2H4 gene in patients with age-related
            macular degeneration.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1712)
  AUTHORS   Zhou,Q. and Sharp,P.A.
  TITLE     Tat-SF1: cofactor for stimulation of transcriptional elongation by
            HIV-1 Tat
  JOURNAL   Science 274 (5287), 605-610 (1996)
   PUBMED   8849451
REFERENCE   7  (bases 1 to 1712)
  AUTHORS   Drapkin,R., Le Roy,G., Cho,H., Akoulitchev,S. and Reinberg,D.
  TITLE     Human cyclin-dependent kinase-activating kinase exists in three
            distinct complexes
  JOURNAL   Proc Natl Acad Sci U S A 93 (13), 6488-6493 (1996)
   PUBMED   8692842
REFERENCE   8  (bases 1 to 1712)
  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   9  (bases 1 to 1712)
  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 1712)
  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
            BI460355.1, BC004935.1 and AL669830.9.
            
            On Nov 23, 2018 this sequence version replaced NM_001517.4.
            
            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 :: SRR3476690.84695.1, BC004935.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000259895.9/ ENSP00000259895.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-21                BI460355.1         29-49
            22-1709             BC004935.1         1-1688
            1710-1712           AL669830.9         7864-7866
FEATURES             Location/Qualifiers
     source          1..1712
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.33"
     gene            1..1712
                     /gene="GTF2H4"
                     /gene_synonym="P52; TFB2; TFIIH"
                     /note="general transcription factor IIH subunit 4"
                     /db_xref="GeneID:2968"
                     /db_xref="HGNC:HGNC:4658"
                     /db_xref="MIM:601760"
     exon            1..197
                     /gene="GTF2H4"
                     /gene_synonym="P52; TFB2; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            198..337
                     /gene="GTF2H4"
                     /gene_synonym="P52; TFB2; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     CDS             201..1589
                     /gene="GTF2H4"
                     /gene_synonym="P52; TFB2; TFIIH"
                     /note="TFIIH basal transcription factor complex p52
                     subunit; BTF2 p52; basic transcription factor 2 52 kDa
                     subunit; general transcription factor IIH polypeptide 4;
                     general transcription factor IIH, polypeptide 4, 52kDa"
                     /codon_start=1
                     /product="general transcription factor IIH subunit 4"
                     /protein_id="NP_001508.1"
                     /db_xref="CCDS:CCDS34386.1"
                     /db_xref="GeneID:2968"
                     /db_xref="HGNC:HGNC:4658"
                     /db_xref="MIM:601760"
                     /translation="MESTPSRGLNRVHLQCRNLQEFLGGLSPGVLDRLYGHPATCLAV
                     FRELPSLAKNWVMRMLFLEQPLPQAAVALWVKKEFSKAQEESTGLLSGLRIWHTQLLP
                     GGLQGLILNPIFRQNLRIALLGGGKAWSDDTSQLGPDKHARDVPSLDKYAEERWEVVL
                     HFMVGSPSAAVSQDLAQLLSQAGLMKSTEPGEPPCITSAGFQFLLLDTPAQLWYFMLQ
                     YLQTAQSRGMDLVEILSFLFQLSFSTLGKDYSVEGMSDSLLNFLQHLREFGLVFQRKR
                     KSRRYYPTRLAINLSSGVSGAGGTVHQPGFIVVETNYRLYAYTESELQIALIALFSEM
                     LYRFPNMVVAQVTRESVQQAIASGITAQQIIHFLRTRAHPVMLKQTPVLPPTITDQIR
                     LWELERDRLRFTEGVLYNQFLSQVDFELLLAHARELGVLVFENSAKRLMVVTPAGHSD
                     VKRFWKRQKHSS"
     exon            338..442
                     /gene="GTF2H4"
                     /gene_synonym="P52; TFB2; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            443..574
                     /gene="GTF2H4"
                     /gene_synonym="P52; TFB2; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            575..671
                     /gene="GTF2H4"
                     /gene_synonym="P52; TFB2; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            672..760
                     /gene="GTF2H4"
                     /gene_synonym="P52; TFB2; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            761..872
                     /gene="GTF2H4"
                     /gene_synonym="P52; TFB2; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            873..941
                     /gene="GTF2H4"
                     /gene_synonym="P52; TFB2; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            942..1025
                     /gene="GTF2H4"
                     /gene_synonym="P52; TFB2; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1026..1158
                     /gene="GTF2H4"
                     /gene_synonym="P52; TFB2; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1159..1289
                     /gene="GTF2H4"
                     /gene_synonym="P52; TFB2; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1290..1337
                     /gene="GTF2H4"
                     /gene_synonym="P52; TFB2; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1338..1416
                     /gene="GTF2H4"
                     /gene_synonym="P52; TFB2; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1417..1712
                     /gene="GTF2H4"
                     /gene_synonym="P52; TFB2; TFIIH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1691..1696
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTF2H4"
                     /gene_synonym="P52; TFB2; TFIIH"
                     /note="hexamer: AATAAA"
     polyA_site      1712
                     /gene="GTF2H4"
                     /gene_synonym="P52; TFB2; TFIIH"
                     /note="major polyA site"
ORIGIN      
        1 actcctcccc ttacctccct tctcttctga attctccatt ctgggctctt gcctgtgaaa
       61 tctttctttg ctttccccat cttttcctcg cattttttca ccatctttcc ctcaatctcc
      121 aggagccaat gcgagacttt ggctccgatt aagcgacggc ccgagactcg gggtgcgcga
      181 ggaggatcga cagagtggtg atggagagca ccccttcaag gggactgaac cgagtacacc
      241 tacaatgcag gaatctgcag gaattcttag ggggcctgag ccctggggta ttggaccgat
      301 tgtatgggca ccctgccaca tgtctggctg tcttcaggga gctcccatcc ttggctaaga
      361 actgggtgat gcggatgctc tttctggagc agcctttgcc acaggctgct gtagctctgt
      421 gggtaaagaa ggaattcagc aaggctcagg aggaaagtac agggctgctg agcggcctcc
      481 ggatctggca cacacagctg ctcccaggcg ggctccaggg cctcatcctc aaccccattt
      541 tccgccagaa cctccgcatt gcccttctgg gtggggggaa ggcctggtct gatgacacaa
      601 gtcagctggg accagacaag catgcccggg acgttccctc ccttgacaag tacgccgagg
      661 agcgatggga ggtggtcttg cacttcatgg tgggctcccc cagtgcagct gtcagccagg
      721 acttggctca gctcctcagc caggctgggc tcatgaagag tactgaacct ggagagccgc
      781 cctgcattac ttccgctggc ttccagttcc tgttgctgga caccccggct cagctctggt
      841 actttatgtt gcagtatttg cagacagccc agagccgggg catggacctg gtagagattc
      901 tctccttcct cttccagctc agcttctcta ctctgggcaa ggattactct gtggaaggta
      961 tgagtgattc tctgttgaac ttcctgcaac atctgcgtga gtttgggctt gttttccaga
     1021 ggaagaggaa atctcggcgt tactacccca cacgcctggc catcaatctc tcatcaggtg
     1081 tctctggagc tgggggcact gtgcatcagc caggtttcat tgtcgtggaa accaattacc
     1141 gactgtatgc ctacacggag tcggagctgc agattgccct cattgccctc ttctctgaga
     1201 tgctctatcg gttccccaac atggtggtgg cgcaggtgac ccgggagagt gtgcagcagg
     1261 caatcgccag tggcatcaca gcccagcaga taatccattt cctaaggaca agagcccacc
     1321 cagtgatgct caaacagaca cctgtgctgc cccccaccat caccgaccag atccggctct
     1381 gggagctgga aagggacaga ctccggttca ctgagggtgt cctgtataac cagttcctgt
     1441 cgcaagtgga ctttgagctg ctgctggccc acgcgcggga gctgggcgtg ctcgtgttcg
     1501 agaactcggc caagcggctc atggtggtga ccccggccgg gcacagcgac gtcaagcgct
     1561 tttggaagcg gcagaaacat agctcctgag agcgcgggac ttggacacgg acctcggcgg
     1621 gcgggactgg gcggggcggg gcatcagaac tcaggtgttt tttatttacg cgtcagggct
     1681 tttcttgttt aataaagtta tgatagctag ca
//
