LOCUS       NM_003194               1857 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens TATA-box binding protein (TBP), transcript variant 1,
            mRNA.
ACCESSION   NM_003194
VERSION     NM_003194.5
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 1857)
  AUTHORS   van Prooije,T.H., Pennings,M., Dorresteijn,L., Gardeitchik,T.,
            Odekerken,V.J.J., Oosterloo,M., Pedersen,A.,
            Verschuuren-Bemelmans,C.C., Vrancken,A., Kamsteeg,E.J. and van de
            Warrenburg,B.P.C.
  TITLE     A New Case Series Suggests That SCA48 (ATX/STUB1) Is Primarily a
            Monogenic Disorder
  JOURNAL   Mov Disord 39 (9), 1636-1640 (2024)
   PUBMED   38973070
  REMARK    GeneRIF: A New Case Series Suggests That SCA48 (ATX/STUB1) Is
            Primarily a Monogenic Disorder.
REFERENCE   2  (bases 1 to 1857)
  AUTHORS   Hoffman-Zacharska,D. and Sulek,A.
  TITLE     The New Face of Dynamic Mutation-The CAA [CAG]n CAA CAG Motif as a
            Mutable Unit in the TBP Gene Causative for Spino-Cerebellar Ataxia
            Type 17
  JOURNAL   Int J Mol Sci 25 (15), 8190 (2024)
   PUBMED   39125760
  REMARK    GeneRIF: The New Face of Dynamic Mutation-The CAA [CAG]n CAA CAG
            Motif as a Mutable Unit in the TBP Gene Causative for
            Spino-Cerebellar Ataxia Type 17.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1857)
  AUTHORS   Miyasaka,S., Kitada,R. and Kokubo,T.
  TITLE     Taf1 N-terminal domain 2 (TAND2) of TFIID promotes formation of
            stable and mobile unstable TBP-TATA complexes
  JOURNAL   Gene 889, 147800 (2023)
   PUBMED   37716588
  REMARK    GeneRIF: Taf1 N-terminal domain 2 (TAND2) of TFIID promotes
            formation of stable and mobile unstable TBP-TATA complexes.
REFERENCE   4  (bases 1 to 1857)
  AUTHORS   Bernardini,A., Mukherjee,P., Scheer,E., Kamenova,I., Antonova,S.,
            Mendoza Sanchez,P.K., Yayli,G., Morlet,B., Timmers,H.T.M. and
            Tora,L.
  TITLE     Hierarchical TAF1-dependent co-translational assembly of the basal
            transcription factor TFIID
  JOURNAL   Nat Struct Mol Biol 30 (8), 1141-1152 (2023)
   PUBMED   37386215
  REMARK    GeneRIF: Hierarchical TAF1-dependent co-translational assembly of
            the basal transcription factor TFIID.
REFERENCE   5  (bases 1 to 1857)
  AUTHORS   Toyoshima,Y., Onodera,O., Yamada,M., Tsuji,S. and Takahashi,H.
  TITLE     Spinocerebellar Ataxia Type 17
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301611
REFERENCE   6  (bases 1 to 1857)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
REFERENCE   7  (bases 1 to 1857)
  AUTHORS   Seto,E., Usheva,A., Zambetti,G.P., Momand,J., Horikoshi,N.,
            Weinmann,R., Levine,A.J. and Shenk,T.
  TITLE     Wild-type p53 binds to the TATA-binding protein and represses
            transcription
  JOURNAL   Proc Natl Acad Sci U S A 89 (24), 12028-12032 (1992)
   PUBMED   1465435
REFERENCE   8  (bases 1 to 1857)
  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   9  (bases 1 to 1857)
  AUTHORS   Polymeropoulos,M.H., Rath,D.S., Xiao,H. and Merril,C.R.
  TITLE     Trinucleotide repeat polymorphism at the human transcription factor
            IID gene
  JOURNAL   Nucleic Acids Res 19 (15), 4307 (1991)
   PUBMED   1870994
REFERENCE   10 (bases 1 to 1857)
  AUTHORS   Kao,C.C., Lieberman,P.M., Schmidt,M.C., Zhou,Q., Pei,R. and
            Berk,A.J.
  TITLE     Cloning of a transcriptionally active human TATA binding factor
  JOURNAL   Science 248 (4963), 1646-1650 (1990)
   PUBMED   2194289
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM720195.1, BC109053.1,
            AL031259.1 and CA422572.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_003194.4.
            
            Summary: Initiation of transcription by RNA polymerase II requires
            the activities of more than 70 polypeptides. The protein that
            coordinates these activities is transcription factor IID (TFIID),
            which binds to the core promoter to position the polymerase
            properly, serves as the scaffold for assembly of the remainder of
            the transcription complex, and acts as a channel for regulatory
            signals. TFIID is composed of the TATA-binding protein (TBP) and a
            group of evolutionarily conserved proteins known as TBP-associated
            factors or TAFs. TAFs may participate in basal transcription, serve
            as coactivators, function in promoter recognition or modify general
            transcription factors (GTFs) to facilitate complex assembly and
            transcription initiation. This gene encodes TBP, the TATA-binding
            protein. A distinctive feature of TBP is a long string of
            glutamines in the N-terminus. This region of the protein modulates
            the DNA binding activity of the C terminus, and modulation of DNA
            binding affects the rate of transcription complex formation and
            initiation of transcription. The number of CAG repeats encoding the
            polyglutamine tract is usually 25-42, and expansion of the number
            of repeats to 45-66 increases the length of the polyglutamine
            string and is associated with spinocerebellar ataxia 17, a
            neurodegenerative disorder classified as a polyglutamine disease.
            Two transcript variants encoding different isoforms have been found
            for this gene. [provided by RefSeq, Jul 2016].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: AK315222.1, BC110341.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000392092.7/ ENSP00000375942.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-407               BM720195.1         37-443
            408-458             BC109053.1         358-408
            459-477             AL031259.1         86972-86990         c
            478-1013            BC109053.1         425-960
            1014-1014           AL031259.1         79237-79237         c
            1015-1446           BC109053.1         962-1393
            1447-1857           CA422572.1         29-439              c
FEATURES             Location/Qualifiers
     source          1..1857
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q27"
     gene            1..1857
                     /gene="TBP"
                     /gene_synonym="GTF2D; GTF2D1; HDL4; SCA17; TBP1; TFIID"
                     /note="TATA-box binding protein"
                     /db_xref="GeneID:6908"
                     /db_xref="HGNC:HGNC:11588"
                     /db_xref="MIM:600075"
     exon            1..95
                     /gene="TBP"
                     /gene_synonym="GTF2D; GTF2D1; HDL4; SCA17; TBP1; TFIID"
                     /inference="alignment:Splign:2.1.0"
     exon            96..297
                     /gene="TBP"
                     /gene_synonym="GTF2D; GTF2D1; HDL4; SCA17; TBP1; TFIID"
                     /inference="alignment:Splign:2.1.0"
     CDS             244..1263
                     /gene="TBP"
                     /gene_synonym="GTF2D; GTF2D1; HDL4; SCA17; TBP1; TFIID"
                     /note="isoform 1 is encoded by transcript variant 1;
                     TATA-box binding protein N-terminal domain; TATA-box
                     factor; TATA sequence-binding protein; transcription
                     initiation factor TFIID TBP subunit"
                     /codon_start=1
                     /product="TATA-box-binding protein isoform 1"
                     /protein_id="NP_003185.1"
                     /db_xref="CCDS:CCDS5315.1"
                     /db_xref="GeneID:6908"
                     /db_xref="HGNC:HGNC:11588"
                     /db_xref="MIM:600075"
                     /translation="MDQNNSLPPYAQGLASPQGAMTPGIPIFSPMMPYGTGLTPQPIQ
                     NTNSLSILEEQQRQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQAVAAAAV
                     QQSTSQQATQGTSGQAPQLFHSQTLTTAPLPGTTPLYPSPMTPMTPITPATPASESSG
                     IVPQLQNIVSTVNLGCKLDLKTIALRARNAEYNPKRFAAVIMRIREPRTTALIFSSGK
                     MVCTGAKSEEQSRLAARKYARVVQKLGFPAKFLDFKIQNMVGSCDVKFPIRLEGLVLT
                     HQQFSSYEPELFPGLIYRMIKPRIVLLIFVSGKVVLTGAKVRAEIYEAFENIYPILKG
                     FRKTT"
     exon            298..740
                     /gene="TBP"
                     /gene_synonym="GTF2D; GTF2D1; HDL4; SCA17; TBP1; TFIID"
                     /inference="alignment:Splign:2.1.0"
     exon            741..828
                     /gene="TBP"
                     /gene_synonym="GTF2D; GTF2D1; HDL4; SCA17; TBP1; TFIID"
                     /inference="alignment:Splign:2.1.0"
     exon            829..920
                     /gene="TBP"
                     /gene_synonym="GTF2D; GTF2D1; HDL4; SCA17; TBP1; TFIID"
                     /inference="alignment:Splign:2.1.0"
     exon            921..1088
                     /gene="TBP"
                     /gene_synonym="GTF2D; GTF2D1; HDL4; SCA17; TBP1; TFIID"
                     /inference="alignment:Splign:2.1.0"
     exon            1089..1183
                     /gene="TBP"
                     /gene_synonym="GTF2D; GTF2D1; HDL4; SCA17; TBP1; TFIID"
                     /inference="alignment:Splign:2.1.0"
     exon            1184..1857
                     /gene="TBP"
                     /gene_synonym="GTF2D; GTF2D1; HDL4; SCA17; TBP1; TFIID"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1832..1837
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TBP"
                     /gene_synonym="GTF2D; GTF2D1; HDL4; SCA17; TBP1; TFIID"
                     /note="hexamer: AATAAA"
     polyA_site      1857
                     /gene="TBP"
                     /gene_synonym="GTF2D; GTF2D1; HDL4; SCA17; TBP1; TFIID"
                     /note="major polyA site"
ORIGIN      
        1 agtgaggtcg ggcaggttcg ctgtggcggg cgcctgggcc gccggctgtt taacttcgct
       61 tccgctggcc catagtgatc tttgcagtga cccagcatca ctgtttcttg gcgtgtgaag
      121 ataacccaag gaattgagga agttgctgag aagagtgtgc tggagatgct ctaggaaaaa
      181 attgaatagt gagacgagtt ccagcgcaag ggtttctggt ttgccaagaa gaaagtgaac
      241 atcatggatc agaacaacag cctgccacct tacgctcagg gcttggcctc ccctcagggt
      301 gccatgactc ccggaatccc tatctttagt ccaatgatgc cttatggcac tggactgacc
      361 ccacagccta ttcagaacac caatagtctg tctattttgg aagagcaaca aaggcagcag
      421 cagcaacaac aacagcagca gcagcagcag cagcagcaac agcaacagca gcagcagcag
      481 cagcagcagc agcagcagca gcagcagcag cagcagcagc agcaacaggc agtggcagct
      541 gcagccgttc agcagtcaac gtcccagcag gcaacacagg gaacctcagg ccaggcacca
      601 cagctcttcc actcacagac tctcacaact gcacccttgc cgggcaccac tccactgtat
      661 ccctccccca tgactcccat gacccccatc actcctgcca cgccagcttc ggagagttct
      721 gggattgtac cgcagctgca aaatattgta tccacagtga atcttggttg taaacttgac
      781 ctaaagacca ttgcacttcg tgcccgaaac gccgaatata atcccaagcg gtttgctgcg
      841 gtaatcatga ggataagaga gccacgaacc acggcactga ttttcagttc tgggaaaatg
      901 gtgtgcacag gagccaagag tgaagaacag tccagactgg cagcaagaaa atatgctaga
      961 gttgtacaga agttgggttt tccagctaag ttcttggact tcaagattca gaatatggtg
     1021 gggagctgtg atgtgaagtt tcctataagg ttagaaggcc ttgtgctcac ccaccaacaa
     1081 tttagtagtt atgagccaga gttatttcct ggtttaatct acagaatgat caaacccaga
     1141 attgttctcc ttatttttgt ttctggaaaa gttgtattaa caggtgctaa agtcagagca
     1201 gaaatttatg aagcatttga aaacatctac cctattctaa agggattcag gaagacgacg
     1261 taatggctct catgtaccct tgcctccccc acccccttct tttttttttt ttaaacaaat
     1321 cagtttgttt tggtaccttt aaatggtggt gttgtgagaa gatggatgtt gagttgcagg
     1381 gtgtggcacc aggtgatgcc cttctgtaag tgcccaccgc gggatgccgg gaaggggcat
     1441 tatttgtgca ctgagaacac cgcgcagcgt gactgtgagt tgctcatacc gtgctgctat
     1501 ctgggcagcg ctgcccattt atttatatgt agattttaaa cactgctgtt gacaagttgg
     1561 tttgagggag aaaactttaa gtgttaaagc cacctctata attgattgga ctttttaatt
     1621 ttaatgtttt tccccatgaa ccacagtttt tatatttcta ccagaaaagt aaaaatcttt
     1681 tttaaaagtg ttgtttttct aatttataac tcctaggggt tatttctgtg ccagacacat
     1741 tccacctctc cagtattgca ggacagaata tatgtgttaa tgaaaatgaa tggctgtaca
     1801 tatttttttc tttcttcaga gtactctgta caataaatgc agtttataaa agtgtta
//
