LOCUS       NM_145291               2886 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens zinc finger and BTB domain containing 49 (ZBTB49),
            transcript variant 1, mRNA.
ACCESSION   NM_145291
VERSION     NM_145291.4
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 2886)
  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   2  (bases 1 to 2886)
  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 2886)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2886)
  AUTHORS   Chen,S., Fragoza,R., Klei,L., Liu,Y., Wang,J., Roeder,K., Devlin,B.
            and Yu,H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   5  (bases 1 to 2886)
  AUTHORS   Jeon,B.N., Yoon,J.H., Han,D., Kim,M.K., Kim,Y., Choi,S.H., Song,J.,
            Kim,K.S., Kim,K. and Hur,M.W.
  TITLE     ZNF509S1 downregulates PUMA by inhibiting p53K382 acetylation and
            p53-DNA binding
  JOURNAL   Biochim Biophys Acta Gene Regul Mech 1860 (9), 962-972 (2017)
   PUBMED   28757384
  REMARK    GeneRIF: ZNF509S1 modulation of p53 activity.
REFERENCE   6  (bases 1 to 2886)
  AUTHORS   Jeon,B.N., Kim,M.K., Yoon,J.H., Kim,M.Y., An,H., Noh,H.J.,
            Choi,W.I., Koh,D.I. and Hur,M.W.
  TITLE     Two ZNF509 (ZBTB49) isoforms induce cell-cycle arrest by activating
            transcription of p21/CDKN1A and RB upon exposure to genotoxic
            stress
  JOURNAL   Nucleic Acids Res 42 (18), 11447-11461 (2014)
   PUBMED   25245946
  REMARK    GeneRIF: Two major ZNF509 isoforms are induced by p53 and act as
            downstream executioners of cell-cycle arrest by inducing expression
            of p21 and RB.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK292551.1, BC109087.1 and CA435417.1.
            
            On Nov 23, 2018 this sequence version replaced NM_145291.3.
            
            Transcript Variant: This variant (1) represents the longest
            transcript. Both variants 1 and 2 encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK127560.1, SRR1660805.89189.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000337872.9/ ENSP00000338807.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1972              AK292551.1         55-2026
            1973-2501           BC109087.1         1973-2501
            2502-2886           CA435417.1         21-405              c
FEATURES             Location/Qualifiers
     source          1..2886
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.3"
     gene            1..2886
                     /gene="ZBTB49"
                     /gene_synonym="ZNF509"
                     /note="zinc finger and BTB domain containing 49"
                     /db_xref="GeneID:166793"
                     /db_xref="HGNC:HGNC:19883"
                     /db_xref="MIM:616238"
     exon            1..102
                     /gene="ZBTB49"
                     /gene_synonym="ZNF509"
                     /inference="alignment:Splign:2.1.0"
     exon            103..273
                     /gene="ZBTB49"
                     /gene_synonym="ZNF509"
                     /inference="alignment:Splign:2.1.0"
     CDS             122..2419
                     /gene="ZBTB49"
                     /gene_synonym="ZNF509"
                     /note="zinc finger protein 509"
                     /codon_start=1
                     /product="zinc finger and BTB domain-containing protein
                     49"
                     /protein_id="NP_660334.3"
                     /db_xref="CCDS:CCDS3375.1"
                     /db_xref="GeneID:166793"
                     /db_xref="HGNC:HGNC:19883"
                     /db_xref="MIM:616238"
                     /translation="MDPVATHSCHLLQQLHEQRIQGLLCDCMLVVKGVCFKAHKNVLA
                     AFSQYFRSLFQNSSSQKNDVFHLDVKNVSGIGQILDFMYTSHLDLNQDNIQVMLDTAQ
                     CLQVQNVLSLCHTFLKSATVVQPPGMPCNSTLSLQSTLTPDATCVISENYPPHLLQEC
                     SADAQQNKTLDESHPHASPSVNRHHSAGEISKQAPDTSDGSCTELPFKQPNYYYKLRN
                     FYSKQYHKHAAGPSQERVVEQPFAFSTSTDLTTVESQPCAVSHSECILESPEHLPSNF
                     LAQPVNDSAPHPESDATCQQPVKQMRLKKAIHLKKLNFLKSQKYAEQVSEPKSDDGLT
                     KRLESASKNTLEKASSQSAEEKESEEVVSCENFNCISETERPEDPAALEDQSQTLQSQ
                     RQYACELCGKPFKHPSNLELHKRSHTGEKPFECNICGKHFSQAGNLQTHLRRHSGEKP
                     YICEICGKRFAASGDVQRHIIIHSGEKPHLCDICGRGFSNFSNLKEHKKTHTADKVFT
                     CDECGKSFNMQRKLVKHRIRHTGERPYSCSACGKCFGGSGDLRRHVRTHTGEKPYTCE
                     ICNKCFTRSAVLRRHKKMHCKAGDESPDVLEELSQAIETSDLEKSQSSDSFSQDTSVT
                     LMPVSVKLPVHPVENSVAEFDSHSGGSYCKLRSMIQPHGVSDQEKLSLDPGKLAKPQM
                     QQTQPQAYAYSDVDTPAGGEPLQADGMAMIRSSLAALDNHGGDPLGSRASSTTYRNSE
                     GQFFSSMTLWGLAMKTLQNENELDQ"
     exon            274..1376
                     /gene="ZBTB49"
                     /gene_synonym="ZNF509"
                     /inference="alignment:Splign:2.1.0"
     exon            1377..1423
                     /gene="ZBTB49"
                     /gene_synonym="ZNF509"
                     /inference="alignment:Splign:2.1.0"
     exon            1424..1497
                     /gene="ZBTB49"
                     /gene_synonym="ZNF509"
                     /inference="alignment:Splign:2.1.0"
     exon            1498..1580
                     /gene="ZBTB49"
                     /gene_synonym="ZNF509"
                     /inference="alignment:Splign:2.1.0"
     exon            1581..1742
                     /gene="ZBTB49"
                     /gene_synonym="ZNF509"
                     /inference="alignment:Splign:2.1.0"
     exon            1743..2886
                     /gene="ZBTB49"
                     /gene_synonym="ZNF509"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2864..2869
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZBTB49"
                     /gene_synonym="ZNF509"
                     /note="hexamer: AATAAA"
     polyA_site      2886
                     /gene="ZBTB49"
                     /gene_synonym="ZNF509"
                     /note="major polyA site"
ORIGIN      
        1 gttgtcgtga tgattccgcg gccagcggat cgctgcgagt ggccttgaag gcagctgctg
       61 caggtgaaga gtaggcggcg gggcagagag cggcctccga gggtcacctg aatggttgag
      121 catggaccct gttgctaccc acagctgcca tctgctccag caactgcatg agcagcgaat
      181 ccaaggcctg ctttgtgact gtatgttggt ggtaaaagga gtctgcttta aagcgcataa
      241 gaatgtcctg gcagcattca gccagtattt taggagcctc tttcagaatt cttcaagcca
      301 gaagaatgat gtttttcact tggatgttaa aaatgtcagt ggcatagggc agatcctgga
      361 cttcatgtac acttctcatc tagatcttaa ccaggacaat atacaagtaa tgctggacac
      421 agcacagtgt ttgcaagttc aaaatgttct gagtctgtgt cacacatttt taaaatcagc
      481 cactgtagta cagccacctg gcatgccttg taatagtaca ttgtctctac aaagcaccct
      541 gaccccagat gccacttgtg ttatcagtga aaactacccc cctcatttac tgcaggaatg
      601 ttcagcagat gcacagcaga acaaaacgtt ggatgaatcg catccgcatg cttcaccatc
      661 agttaatcgt catcactccg caggtgaaat ctcaaaacaa gctcctgata cttcagatgg
      721 cagctgcaca gaactgcctt tcaaacagcc aaattactat tacaaactca gaaactttta
      781 cagtaagcag taccataaac acgcagctgg tcccagtcag gagagagttg ttgagcagcc
      841 ttttgctttc agcacctcta cagaccttac cacggtagag agccagcctt gtgccgtcag
      901 tcattctgaa tgcatcctgg agtctcccga gcacttacct tccaacttcc tggcccagcc
      961 tgtgaatgac tctgccccac accctgagtc agacgccaca tgccaacaac ctgtcaagca
     1021 gatgaggctc aaaaaggcca ttcatctgaa gaagctcaat ttcctgaagt cacagaaata
     1081 cgcagagcaa gtatctgaac ccaagtcaga tgatggtttg acaaagaggt tggaatctgc
     1141 tagtaaaaat accctagaga aagctagcag ccaaagtgct gaagaaaaag aaagtgaaga
     1201 agtcgtcagt tgtgagaatt ttaattgcat tagtgagacg gagaggcctg aagacccggc
     1261 tgccctggaa gaccagtccc agacacttca gtcccagaga caatacgcgt gtgaattatg
     1321 cgggaaacct tttaaacacc caagcaactt ggagcttcac aaacggtctc atacaggtga
     1381 gaaacctttt gaatgtaaca tttgtgggaa acatttctct caggcaggta acttgcagac
     1441 tcacttacga cggcattctg gtgaaaaacc atacatctgc gagatctgtg gaaagaggtt
     1501 tgcagcctct ggcgacgtcc agcgtcacat tattattcac tcaggagaaa aaccacactt
     1561 gtgtgacatc tgtggtcgag ggtttagtaa cttcagtaat ttgaaggagc acaaaaagac
     1621 acacacggct gataaagtct tcacctgtga tgagtgtgga aagtctttta atatgcaaag
     1681 gaagttagta aagcacagaa ttcggcacac gggggagcgg ccttacagct gctctgcctg
     1741 cgggaaatgt tttgggggat caggtgacct ccgcaggcat gtccgcactc acactgggga
     1801 gaagccgtac acatgtgaga tctgtaacaa gtgctttacc cgctctgcgg tgctccggcg
     1861 gcacaagaag atgcactgca aagctggtga cgagagccca gatgtgctgg aggagctcag
     1921 ccaagccatc gagacctccg acctcgagaa atctcagagc tcagactctt tctcccaaga
     1981 cacgtctgtg acgctgatgc cagtgtcggt taaactccct gtccacccag tggaaaattc
     2041 tgtggcagaa tttgatagcc actctggcgg ctcctattgt aagttacggt ccatgatcca
     2101 acctcatgga gttagtgacc aggagaagct gagtttggat cctggtaaac ttgccaagcc
     2161 ccagatgcag cagacacagc ctcaggccta tgcttactcg gatgtggaca ccccagccgg
     2221 tggcgaacca ctgcaggccg atggcatggc catgatccgt tcctctctgg ctgctttgga
     2281 caaccacggc ggtgaccccc tgggcagtcg agcatcttcc accacttata ggaactcaga
     2341 gggtcagttt ttctccagca tgactctctg ggggctagcg atgaagacgc tgcagaatga
     2401 aaacgagtta gaccagtgat gtaccgcgct tctccacggt agaggcgtgt tctcagttta
     2461 gcaggctggt gttaaggctg taggaggacc cagtttcccc atgacagtgc cttctaacta
     2521 gccagagaat aggtagcttc cctcctgatg atggctcata atctgaagca tcttgagctg
     2581 ggggtgtgag ggggagggcc tgctggctca ccgtgaggca gccgcgggag ggagcgctga
     2641 cgtcacagaa gcgaaggctt gatgctgtct cagcagcctc agctgtgggg gggaagcgcg
     2701 tgtgcatcgt gtcaactact gtacatgttg gtcatgtgaa aggaattata tatgtatagt
     2761 attacaagta tttttgcatt tttacaagat tgaaatttgt agcattttgt attatttaca
     2821 cagaatttat ttgtatatga aactcatacc ataatttaat tcgaataaat gaaacttttc
     2881 tatata
//
