LOCUS       NM_012087               2098 bp    mRNA    linear   PRI 07-MAY-2024
DEFINITION  Homo sapiens general transcription factor IIIC subunit 5 (GTF3C5),
            transcript variant 2, mRNA.
ACCESSION   NM_012087
VERSION     NM_012087.4
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 2098)
  AUTHORS   Iwata-Otsubo,A., Skraban,C.M., Yoshimura,A., Sakata,T.,
            Alves,C.A.P., Fiordaliso,S.K., Kuroda,Y., Vengoechea,J.,
            Grochowsky,A., Ernste,P., Lulis,L., Nesbitt,A., Tayoun,A.A.,
            Gray,C., Towne,M.C., Radtke,K., Normand,E.A., Rhodes,L., Seiler,C.,
            Shirahige,K. and Izumi,K.
  TITLE     Biallelic variants in GTF3C5, a regulator of RNA polymerase
            III-mediated transcription, cause a multisystem developmental
            disorder
  JOURNAL   Hum Genet 143 (3), 437-453 (2024)
   PUBMED   38520561
  REMARK    GeneRIF: Biallelic variants in GTF3C5, a regulator of RNA
            polymerase III-mediated transcription, cause a multisystem
            developmental disorder.
REFERENCE   2  (bases 1 to 2098)
  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   3  (bases 1 to 2098)
  AUTHORS   Dumay-Odelot,H., Marck,C., Durrieu-Gaillard,S., Lefebvre,O.,
            Jourdain,S., Prochazkova,M., Pflieger,A. and Teichmann,M.
  TITLE     Identification, molecular cloning, and characterization of the
            sixth subunit of human transcription factor TFIIIC
  JOURNAL   J Biol Chem 282 (23), 17179-17189 (2007)
   PUBMED   17409385
REFERENCE   4  (bases 1 to 2098)
  AUTHORS   Hsieh,Y.J., Kundu,T.K., Wang,Z., Kovelman,R. and Roeder,R.G.
  TITLE     The TFIIIC90 subunit of TFIIIC interacts with multiple components
            of the RNA polymerase III machinery and contains a histone-specific
            acetyltransferase activity
  JOURNAL   Mol Cell Biol 19 (11), 7697-7704 (1999)
   PUBMED   10523658
REFERENCE   5  (bases 1 to 2098)
  AUTHORS   Hsieh,Y.J., Wang,Z., Kovelman,R. and Roeder,R.G.
  TITLE     Cloning and characterization of two evolutionarily conserved
            subunits (TFIIIC102 and TFIIIC63) of human TFIIIC and their
            involvement in functional interactions with TFIIIB and RNA
            polymerase III
  JOURNAL   Mol Cell Biol 19 (7), 4944-4952 (1999)
   PUBMED   10373544
REFERENCE   6  (bases 1 to 2098)
  AUTHORS   Jang,K.L., Collins,M.K. and Latchman,D.S.
  TITLE     The human immunodeficiency virus tat protein increases the
            transcription of human Alu repeated sequences by increasing the
            activity of the cellular transcription factor TFIIIC
  JOURNAL   J Acquir Immune Defic Syndr (1988) 5 (11), 1142-1147 (1992)
   PUBMED   1403646
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK055092.1 and AJ420443.1.
            
            On Jun 2, 2019 this sequence version replaced NM_012087.3.
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the 3' coding region, compared to variant 1, which results
            in a shorter isoform (2), compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC017337.2, AK225761.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372097.10/ ENSP00000361169.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1968              AK055092.1         285-2252
            1969-2098           AJ420443.1         1980-2109
FEATURES             Location/Qualifiers
     source          1..2098
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.13"
     gene            1..2098
                     /gene="GTF3C5"
                     /gene_synonym="TFiiiC2-63; TFIIIC63; TFIIICepsilon"
                     /note="general transcription factor IIIC subunit 5"
                     /db_xref="GeneID:9328"
                     /db_xref="HGNC:HGNC:4668"
                     /db_xref="MIM:604890"
     exon            1..168
                     /gene="GTF3C5"
                     /gene_synonym="TFiiiC2-63; TFIIIC63; TFIIICepsilon"
                     /inference="alignment:Splign:2.1.0"
     CDS             16..1575
                     /gene="GTF3C5"
                     /gene_synonym="TFiiiC2-63; TFIIIC63; TFIIICepsilon"
                     /note="isoform 2 is encoded by transcript variant 2;
                     transcription factor IIIC, 63 kD; general transcription
                     factor 3C polypeptide 5; TF3C-epsilon; TFIIIC 63 kDa
                     subunit; transcription factor IIIC subunit epsilon;
                     transcription factor IIIC 63 kDa subunit; general
                     transcription factor IIIC, polypeptide 5, 63kDa"
                     /codon_start=1
                     /product="general transcription factor 3C polypeptide 5
                     isoform 2"
                     /protein_id="NP_036219.2"
                     /db_xref="CCDS:CCDS6958.1"
                     /db_xref="GeneID:9328"
                     /db_xref="HGNC:HGNC:4668"
                     /db_xref="MIM:604890"
                     /translation="MAAEAADLGLGAAVPVELRRERRMVCVEYPGVVRDVAKMLPTLG
                     GEEGVSRIYADPTKRLELYFRPKDPYCHPVCANRFSTSSLLLRIRKRTRRQKGVLGTE
                     AHSEVTFDMEILGIISTIYKFQGMSDFQYLAVHTEAGGKHTSMYDKVLMLRPEKEAFF
                     HQELPLYIPPPIFSRLDAPVDYFYRPETQHREGYNNPPISGENLIGLSRARRPHNAIF
                     VNFEDEEVPKQPLEAAAQTWRRVCTNPVDRKVEEELRKLFDIRPIWSRNAVKANISVH
                     PDKLKVLLPFIAYYMITGPWRSLWIRFGYDPRKNPDAKIYQVLDFRIRCGMKHGYAPS
                     DLPVKAKRSTYNYSLPITVKKTSSQLVTMHDLKQGLGPSGTSGARKPASSKYKLKDSV
                     YIFREGALPPYRQMFYQLCDLNVEELQKIIHRNDGAENSCTERDGWCLPKTSDELRDT
                     MSLMIRQTIRSKRPALFSSSAKADGGKEQLTYESGEDEEDEEEEEEEEEDFKPSDGSE
                     NEMETEILDYV"
     exon            169..388
                     /gene="GTF3C5"
                     /gene_synonym="TFiiiC2-63; TFIIIC63; TFIIICepsilon"
                     /inference="alignment:Splign:2.1.0"
     exon            389..587
                     /gene="GTF3C5"
                     /gene_synonym="TFiiiC2-63; TFIIIC63; TFIIICepsilon"
                     /inference="alignment:Splign:2.1.0"
     exon            588..783
                     /gene="GTF3C5"
                     /gene_synonym="TFiiiC2-63; TFIIIC63; TFIIICepsilon"
                     /inference="alignment:Splign:2.1.0"
     exon            784..888
                     /gene="GTF3C5"
                     /gene_synonym="TFiiiC2-63; TFIIIC63; TFIIICepsilon"
                     /inference="alignment:Splign:2.1.0"
     exon            889..1003
                     /gene="GTF3C5"
                     /gene_synonym="TFiiiC2-63; TFIIIC63; TFIIICepsilon"
                     /inference="alignment:Splign:2.1.0"
     exon            1004..1084
                     /gene="GTF3C5"
                     /gene_synonym="TFiiiC2-63; TFIIIC63; TFIIICepsilon"
                     /inference="alignment:Splign:2.1.0"
     exon            1085..1182
                     /gene="GTF3C5"
                     /gene_synonym="TFiiiC2-63; TFIIIC63; TFIIICepsilon"
                     /inference="alignment:Splign:2.1.0"
     exon            1183..1265
                     /gene="GTF3C5"
                     /gene_synonym="TFiiiC2-63; TFIIIC63; TFIIICepsilon"
                     /inference="alignment:Splign:2.1.0"
     exon            1266..1408
                     /gene="GTF3C5"
                     /gene_synonym="TFiiiC2-63; TFIIIC63; TFIIICepsilon"
                     /inference="alignment:Splign:2.1.0"
     exon            1409..2098
                     /gene="GTF3C5"
                     /gene_synonym="TFiiiC2-63; TFIIIC63; TFIIICepsilon"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2078..2083
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTF3C5"
                     /gene_synonym="TFiiiC2-63; TFIIIC63; TFIIICepsilon"
                     /note="hexamer: ATTAAA"
     polyA_site      2098
                     /gene="GTF3C5"
                     /gene_synonym="TFiiiC2-63; TFIIIC63; TFIIICepsilon"
                     /note="major polyA site"
ORIGIN      
        1 gccagacgca cagggatggc ggcggaggcg gccgatttgg ggctgggggc cgccgtcccc
       61 gtggagctga ggcgggagcg acgcatggtg tgcgtggagt acccgggagt ggtgcgtgat
      121 gtggctaaga tgctgccgac tctgggcggc gaggaaggcg tctcccggat ctacgcagac
      181 cccaccaaga ggctggagct gtacttccgg cccaaggacc catactgcca cccagtgtgc
      241 gccaaccgct tcagtaccag cagcctgctg ctccgcatca ggaagagaac gaggcggcag
      301 aaaggggtgc tgggcactga ggcccactcc gaggtcacat ttgacatgga gatccttggc
      361 atcatctcca ccatttacaa atttcagggg atgtctgact tccagtactt ggctgtgcat
      421 acggaagcag gcggcaagca tacgtcaatg tatgacaagg tgctcatgct ccggcccgag
      481 aaggaggcct ttttccacca ggagctgccg ctctacatcc ccccacccat cttctcccgg
      541 ctggacgccc cggtggacta cttctaccga ccagagaccc agcaccggga aggctacaac
      601 aatcccccca tctcaggtga gaatctgatt ggcctgagca gagcccggcg cccccacaat
      661 gccatctttg tcaactttga ggatgaggag gtgcccaagc agccactgga ggctgcagcc
      721 cagacgtgga ggagagtctg cactaacccc gtggaccgga aggtggagga ggagctgagg
      781 aagctgtttg acatccgtcc catctggtcc cgaaatgctg tcaaggccaa catcagcgtc
      841 cacccagaca agctcaaggt cttgcttccc ttcatagcct attacatgat aacaggcccc
      901 tggcgcagcc tatggattcg atttgggtat gacccccgaa aaaacccaga tgccaagatt
      961 tatcaagtcc tcgatttccg aatccgttgt ggaatgaaac acggttacgc ccccagtgac
     1021 ttgccggtca aagcaaagcg cagcacctac aactacagcc tccccatcac cgtcaagaag
     1081 acatccagcc agcttgtcac catgcatgac ctgaagcagg gcctgggccc gtcggggacg
     1141 agtggtgctc ggaaaccagc ttccagcaag tacaagctca aggactctgt ctacatcttc
     1201 cgggaagggg ccttgccacc ctatcggcag atgttctacc agttatgcga cttgaatgtg
     1261 gaagagttgc agaagatcat tcaccgcaat gacggggcag agaattcctg cacagaacgg
     1321 gatgggtggt gcctccccaa gaccagcgac gagctcaggg acaccatgtc cctcatgatc
     1381 cggcagacca tccgctccaa gaggcctgct ctcttttcca gctcagccaa ggctgatggc
     1441 ggaaaagagc agctgacgta cgagtctggg gaagacgagg aggatgagga ggaggaggaa
     1501 gaggaggagg aggacttcaa gccatccgac ggcagtgaaa acgaaatgga gacagagatt
     1561 ctggactacg tgtgacaggg cccaaggctg ggcctccctg acccggccag actggtgtct
     1621 ggcctaatga gggagccggg gctccccatt gccacccaca gtgcccggaa tggccctagg
     1681 aggccctctg aggagagcta gagtcccagc aaagggtgca gctgacccta gcactggctg
     1741 tgacatgctg cttggtgctg cctctggtcc tgaggggtta gggacatccc caaagggtat
     1801 accctggctc tgccacccat gaaccagccc agcatccagc cagtgagtgg gcacccaatg
     1861 cctctcagga tgagaccagt aaatgccgga ggtggagctg ggcagctgtg gagccccagg
     1921 ccacaggcca gtctcgcttg gctctcatga ctgtggtggt ggagatagcg tggggagcct
     1981 cgcccatggt ctcacgtggc aagaagtgcc tttagctctg gatcccaacc gtttggcaca
     2041 gctttggcca cagccaggcc cctctggaat tgtccttatt aaaccagttt cccgagaa
//
