LOCUS       NM_004865               4199 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens TATA-box binding protein like 1 (TBPL1), transcript
            variant 2, mRNA.
ACCESSION   NM_004865
VERSION     NM_004865.4
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 4199)
  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 4199)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 4199)
  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   4  (bases 1 to 4199)
  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   5  (bases 1 to 4199)
  AUTHORS   Kuzmin,A., Jarvi,K., Lo,K., Spencer,L., Chow,G.Y., Macleod,G.,
            Wang,Q. and Varmuza,S.
  TITLE     Identification of potentially damaging amino acid substitutions
            leading to human male infertility
  JOURNAL   Biol Reprod 81 (2), 319-326 (2009)
   PUBMED   19369647
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 4199)
  AUTHORS   Martianov,I., Brancorsini,S., Gansmuller,A., Parvinen,M.,
            Davidson,I. and Sassone-Corsi,P.
  TITLE     Distinct functions of TBP and TLF/TRF2 during spermatogenesis:
            requirement of TLF for heterochromatic chromocenter formation in
            haploid round spermatids
  JOURNAL   Development 129 (4), 945-955 (2002)
   PUBMED   11861477
REFERENCE   7  (bases 1 to 4199)
  AUTHORS   Teichmann,M., Wang,Z., Martinez,E., Tjernberg,A., Zhang,D.,
            Vollmer,F., Chait,B.T. and Roeder,R.G.
  TITLE     Human TATA-binding protein-related factor-2 (hTRF2) stably
            associates with hTFIIA in HeLa cells
  JOURNAL   Proc Natl Acad Sci U S A 96 (24), 13720-13725 (1999)
   PUBMED   10570139
REFERENCE   8  (bases 1 to 4199)
  AUTHORS   Rabenstein,M.D., Zhou,S., Lis,J.T. and Tjian,R.
  TITLE     TATA box-binding protein (TBP)-related factor 2 (TRF2), a third
            member of the TBP family
  JOURNAL   Proc Natl Acad Sci U S A 96 (9), 4791-4796 (1999)
   PUBMED   10220372
REFERENCE   9  (bases 1 to 4199)
  AUTHORS   Ohbayashi,T., Kishimoto,T., Makino,Y., Shimada,M., Nakadai,T.,
            Aoki,T., Kawata,T., Niwa,S. and Tamura,T.
  TITLE     Isolation of cDNA, chromosome mapping, and expression of the human
            TBP-like protein
  JOURNAL   Biochem Biophys Res Commun 255 (1), 137-142 (1999)
   PUBMED   10082669
REFERENCE   10 (bases 1 to 4199)
  AUTHORS   Ohbayashi,T., Makino,Y. and Tamura,T.A.
  TITLE     Identification of a mouse TBP-like protein (TLP) distantly related
            to the drosophila TBP-related factor
  JOURNAL   Nucleic Acids Res 27 (3), 750-755 (1999)
   PUBMED   9889269
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI560657.1, BC017559.2,
            R42082.1 and AL035699.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_004865.3.
            
            Summary: This gene encodes a member of the TATA box-binding protein
            family. TATA box-binding proteins play a critical role in
            transcription by RNA polymerase II as components of the
            transcription factor IID (TFIID) complex. The encoded protein does
            not bind to the TATA box and initiates transcription from TATA-less
            promoters. This gene plays a critical role in spermatogenesis, and
            single nucleotide polymorphisms in this gene may be associated with
            male infertility. Alternatively spliced transcript variants have
            been observed for this gene, and a pseudogene of this gene is
            located on the long arm of chromosome 3. [provided by RefSeq, Nov
            2011].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 encode the same protein.
            
            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 :: SRR1803617.187292.1,
                                           SRR1803617.34051.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000237264.9/ ENSP00000237264.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-28                BI560657.1         67-94
            29-1105             BC017559.2         1-1077
            1106-1257           BC017559.2         1079-1230
            1258-1267           R42082.1           10-19               c
            1268-4199           AL035699.4         15695-18626         c
FEATURES             Location/Qualifiers
     source          1..4199
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q23.2"
     gene            1..4199
                     /gene="TBPL1"
                     /gene_synonym="MGC:8389; MGC:9620; STUD; TLF; TLP; TRF2"
                     /note="TATA-box binding protein like 1"
                     /db_xref="GeneID:9519"
                     /db_xref="HGNC:HGNC:11589"
                     /db_xref="MIM:605521"
     exon            1..202
                     /gene="TBPL1"
                     /gene_synonym="MGC:8389; MGC:9620; STUD; TLF; TLP; TRF2"
                     /inference="alignment:Splign:2.1.0"
     exon            203..381
                     /gene="TBPL1"
                     /gene_synonym="MGC:8389; MGC:9620; STUD; TLF; TLP; TRF2"
                     /inference="alignment:Splign:2.1.0"
     CDS             247..807
                     /gene="TBPL1"
                     /gene_synonym="MGC:8389; MGC:9620; STUD; TLF; TLP; TRF2"
                     /note="TBP-related factor 2; 21-kDA TBP-like protein; TATA
                     box-binding protein-like protein 1; TBP-like 1;
                     TBP-related protein; second TBP of unique DNA protein;
                     TATA box-binding protein-related factor 2"
                     /codon_start=1
                     /product="TATA box-binding protein-like 1"
                     /protein_id="NP_004856.1"
                     /db_xref="CCDS:CCDS5168.1"
                     /db_xref="GeneID:9519"
                     /db_xref="HGNC:HGNC:11589"
                     /db_xref="MIM:605521"
                     /translation="MDADSDVALDILITNVVCVFRTRCHLNLRKIALEGANVIYKRDV
                     GKVLMKLRKPRITATIWSSGKIICTGATSEEEAKFGARRLARSLQKLGFQVIFTDFKV
                     VNVLAVCNMPFEIRLPEFTKNNRPHASYEPELHPAVCYRIKSLRATLQIFSTGSITVT
                     GPNVKAVATAVEQIYPFVFESRKEIL"
     exon            382..464
                     /gene="TBPL1"
                     /gene_synonym="MGC:8389; MGC:9620; STUD; TLF; TLP; TRF2"
                     /inference="alignment:Splign:2.1.0"
     exon            465..528
                     /gene="TBPL1"
                     /gene_synonym="MGC:8389; MGC:9620; STUD; TLF; TLP; TRF2"
                     /inference="alignment:Splign:2.1.0"
     exon            529..632
                     /gene="TBPL1"
                     /gene_synonym="MGC:8389; MGC:9620; STUD; TLF; TLP; TRF2"
                     /inference="alignment:Splign:2.1.0"
     exon            633..727
                     /gene="TBPL1"
                     /gene_synonym="MGC:8389; MGC:9620; STUD; TLF; TLP; TRF2"
                     /inference="alignment:Splign:2.1.0"
     exon            728..4199
                     /gene="TBPL1"
                     /gene_synonym="MGC:8389; MGC:9620; STUD; TLF; TLP; TRF2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1239..1244
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TBPL1"
                     /gene_synonym="MGC:8389; MGC:9620; STUD; TLF; TLP; TRF2"
                     /note="hexamer: AATAAA"
     polyA_site      1257
                     /gene="TBPL1"
                     /gene_synonym="MGC:8389; MGC:9620; STUD; TLF; TLP; TRF2"
                     /note="major polyA site"
     regulatory      2012..2017
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TBPL1"
                     /gene_synonym="MGC:8389; MGC:9620; STUD; TLF; TLP; TRF2"
                     /note="hexamer: AATAAA"
     polyA_site      2032
                     /gene="TBPL1"
                     /gene_synonym="MGC:8389; MGC:9620; STUD; TLF; TLP; TRF2"
     regulatory      2969..2974
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TBPL1"
                     /gene_synonym="MGC:8389; MGC:9620; STUD; TLF; TLP; TRF2"
                     /note="hexamer: AATAAA"
     polyA_site      2993
                     /gene="TBPL1"
                     /gene_synonym="MGC:8389; MGC:9620; STUD; TLF; TLP; TRF2"
     regulatory      4173..4178
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TBPL1"
                     /gene_synonym="MGC:8389; MGC:9620; STUD; TLF; TLP; TRF2"
                     /note="hexamer: AATAAA"
     polyA_site      4199
                     /gene="TBPL1"
                     /gene_synonym="MGC:8389; MGC:9620; STUD; TLF; TLP; TRF2"
ORIGIN      
        1 ctcgcacccg gaacaacaaa gcaaggaaga cggagtccga gcctcggggg ctcctagcaa
       61 cgggccgggg cgggagttcc atggagactg gggagcgcgc ccgtctcatc ctcatccttg
      121 tcctccagct tctccttcgc atccgacgca accggcagca gcgctgccgc cgcgtcctca
      181 gccaccgctc cctcttccca cggatgtgat cttcgtggtg gaaagctaaa ttttaaaacc
      241 accccaatgg atgcagacag tgatgttgca ttggacattc taattacaaa tgtagtctgt
      301 gtttttagaa caagatgtca tttaaactta aggaagattg ctttggaagg agcaaatgta
      361 atttataaac gtgatgttgg aaaagtatta atgaagctta gaaaacctag aattacagct
      421 acaatttggt cctcaggaaa aattatttgc actggagcaa caagtgaaga agaagctaaa
      481 tttggtgcca gacgcttagc ccgtagtctg cagaaactag gttttcaggt aatatttaca
      541 gattttaagg ttgttaacgt tctggcagtg tgtaacatgc catttgaaat ccgtttgcca
      601 gaattcacaa agaacaatag acctcatgcc agttacgaac ctgaacttca tcctgctgtg
      661 tgctatcgga taaaatctct aagagctaca ttacagattt tttcaacagg aagtatcaca
      721 gtaacagggc ccaatgtaaa ggctgttgct actgctgtgg aacagattta cccatttgtg
      781 tttgaaagca ggaaagaaat tttataattc accacttaat tggttagaat ctctaactga
      841 gcacctttta aacctgctgc acattggact caaaaggaaa actggaccaa caataattga
      901 ggaaatagac tcttttattc attcacggct acagtgtaag ctccagtccc tttggatttt
      961 attccaaacc ttgctgtaat ataaaaggaa gtttacaaga catgatattg ctgcttttac
     1021 aaaaggacat tctatttatt ttcgcagtaa ttctcatgtc cccataagca gagctgtcac
     1081 agtgtgcact accttagatt gttttattgt cgtcattgtt atttttttcc attttgagct
     1141 aatgtgtttt atttgtgaat agtcttttac atttttgtat gctgaatatg ggcaccaaag
     1201 aacctgtaaa agttatcttt ttcaattgaa tgtgcacaaa taaaagtttg gaaaagatct
     1261 ctcttcattc tataactttt attccccatt ttctatttta acaaaaattg tattcatact
     1321 tctttttttt aaaatctatg caagcttaag actttggcta aagtgtgttg gcttcttttt
     1381 gaagtgtatt ttgtgtgtgt gtgtgtgtgt gtgtgtatat atatatatat atatgcacca
     1441 catgtgtata gtatctttta atgctctgtt accaaataac aaataggaat tttttttctt
     1501 gcagattaga aataaaaacg tgtatataaa ctctagggaa ccagactaga agtttataga
     1561 taaaggataa tgttttatgt tgctaattta atatgataga aaatgttaaa taacttgtaa
     1621 aggttaagaa attgtagttt taagaagaga aacctcttac ccactagatg gaaatgagaa
     1681 agaagctgtg atgaatggtg cctcatttgg acctttgttt ttctggaaag actcaacacc
     1741 tgtagttgta gagaagtgat tgaggttctt gactttaatc ttgggttgat gcccaagcct
     1801 atactaagag tcttgtcaga agttggtaac atggagatgt tttaacaaga agtgcccata
     1861 agctgcctct gtgccacagt gtaattatca aatagcccca cttgaatttg aaagccattt
     1921 tgtgtgatac tgtccttccc cttgctgtat cttatttaat ggagttaaag agtgactatt
     1981 cagtatatga gattgctact cttaaagtta taataaatat gcatttatga aacagtgtct
     2041 ctggctcacc caggagccct gatgtggtaa tacaggatca agctgtagtt gtgccctgtc
     2101 atttaggttt aggagtttag tgtaaccaac agtgattata cctagaaata aagctgagtg
     2161 gagagtccaa ttagcttctc aggagaaact taatggggac aatattccaa cacaatgttc
     2221 cacaaaaact tgtatttcca aaatgttttt aaacctttgt ggaaaaattg caacatccta
     2281 atctccatat atagtacatt ttccttactg tattataaaa tcttgaaaac ctagcttagg
     2341 cactgcactg aacaacacat attattttta tcttttttct tctcaatgcc ttccctaacc
     2401 tcctgcttat tccaaagtgg aaagcaaagg ctaacttaca tttttccttc ttgtgaaata
     2461 tttcattgag atttttagac ttgtattttt cctttttttt aaaaaaaaag tgtttatttc
     2521 ctttatttta agattcagta ggatagccaa attcatagag aataaaatta catgaaagag
     2581 ttacaagctc actgttttaa agacttgaca tttttcattt agttttaatt aacagtaata
     2641 agtcacctcc tgtttttcaa tgttcaccaa aaaaagaaac atagaatagg gggaaaacat
     2701 gcttatatag ccaaggtaca gatccagatg atgtaacctt tttagtattc gcatgacttg
     2761 aaaactgggc agatcaatag ataatcgaag tgctttatct gaagggagag ggtaaagaca
     2821 gtgtgaccag gtttgttttc agggctgccg aatgagcctc acctaacagt gtccatgggt
     2881 aattcgctaa ccttaacaaa gatgggaaga agtgagtgct ctgatgtctt ctgctggctc
     2941 tccataagta ctgtaaattt tttttataaa taaaaactgt gaatatatat gtacaagttg
     3001 taagtatttc ccccttttta tttttgaaaa tcaagaagct tgatttggtg tggtgcaatg
     3061 gatattggat aaaaatttga agacaaaatt gtttagttac agactcagga taataaaaga
     3121 aaaatataaa agaatgctca agatactgaa gtcaaggtca ctagtaataa actggctagg
     3181 ttgataaaca atttcctgcc catttataat gaagggctaa acaaaaaata cctgaagtat
     3241 atatagagtt tgaactataa acacggaagg aaacatgggg cagaacacac ttcccttctc
     3301 tttccaaaaa caaaaaacaa tgcatgctct gatttgcgta tgaaatacac catgatagaa
     3361 ttgagatctc caatctcctt tccttttagc ttccccctgc caatttttat acagataata
     3421 cactgcagat ccaggccttt tagtcagtct cctgagtctc tgatatagtt ttactactta
     3481 cataggttta tagtctctcc acattgttat aaaggaatgt aatagatcat gtttccttat
     3541 atgacattgg gacagtttgt taggaaccaa taggaaaatt ccaagctaaa taaaaaggag
     3601 ctttggctct taggattctc ttttcttcag gttaatcata ttttaaaatt ctttttcaag
     3661 ttaggttgtt cgtgctttta agttttttgt gtgtcttcca tcacttaaat attagtaatt
     3721 taatatgtta tttggttcaa gatttgattg tggattttct atcataccca aattttatta
     3781 gtaagacctc ttaacaagtc tttaaaatca actggagaag taagagaaca gttcatcgtt
     3841 gtgtgggtga aacccacgtt gctggtacag gtggccatca tagaaaagaa catgagggaa
     3901 ttgtcctgat gtctgaatgt catttattgt gtcttcagtt atctgaacat catcatcaat
     3961 tatagcctgt gtaccgtaac ctgaggtagt gatattcctg aggagtgtga agaattggac
     4021 actgtggatt actatacatt gtcatgaaag ccttacaagg aggcagcttt tctaggcttg
     4081 acttaataac ttcaacctaa ttgcttagag atttggataa ataacctaat ggcctgactc
     4141 cttttctaat gttttactaa cagctacttc taaataaata tggtcccagg attttaaaa
//
