LOCUS       NM_017643               5365 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens mbt domain containing 1 (MBTD1), mRNA.
ACCESSION   NM_017643
VERSION     NM_017643.3
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 5365)
  AUTHORS   Feng,L., Yan,Q. and Xu,X.
  TITLE     Long Non-coding RNA H19 Recruits NFYB to Activate MBTD1 and
            Regulate Doxorubicin Resistance in Lymphoma Cells
  JOURNAL   Mol Biotechnol 65 (6), 997-1009 (2023)
   PUBMED   36434485
  REMARK    GeneRIF: Long Non-coding RNA H19 Recruits NFYB to Activate MBTD1
            and Regulate Doxorubicin Resistance in Lymphoma Cells.
REFERENCE   2  (bases 1 to 5365)
  AUTHORS   Devoucoux,M., Fort,V., Khelifi,G., Xu,J., Alerasool,N., Galloy,M.,
            Wong,N., Bourriquen,G., Fradet-Turcotte,A., Taipale,M., Hope,K.,
            Hussein,S.M.I. and Cote,J.
  TITLE     Oncogenic ZMYND11-MBTD1 fusion protein anchors the NuA4/TIP60
            histone acetyltransferase complex to the coding region of active
            genes
  JOURNAL   Cell Rep 39 (11), 110947 (2022)
   PUBMED   35705031
  REMARK    GeneRIF: Oncogenic ZMYND11-MBTD1 fusion protein anchors the
            NuA4/TIP60 histone acetyltransferase complex to the coding region
            of active genes.
REFERENCE   3  (bases 1 to 5365)
  AUTHORS   Li,J., Galbo,P.M. Jr., Gong,W., Storey,A.J., Tsai,Y.H., Yu,X.,
            Ahn,J.H., Guo,Y., Mackintosh,S.G., Edmondson,R.D., Byrum,S.D.,
            Farrar,J.E., He,S., Cai,L., Jin,J., Tackett,A.J., Zheng,D. and
            Wang,G.G.
  TITLE     ZMYND11-MBTD1 induces leukemogenesis through hijacking NuA4/TIP60
            acetyltransferase complex and a PWWP-mediated chromatin association
            mechanism
  JOURNAL   Nat Commun 12 (1), 1045 (2021)
   PUBMED   33594072
  REMARK    GeneRIF: ZMYND11-MBTD1 induces leukemogenesis through hijacking
            NuA4/TIP60 acetyltransferase complex and a PWWP-mediated chromatin
            association mechanism.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5365)
  AUTHORS   Han,L., Liu,Y.J., Ricciotti,R.W. and Mantilla,J.G.
  TITLE     A novel MBTD1-PHF1 gene fusion in endometrial stromal sarcoma: A
            case report and literature review
  JOURNAL   Genes Chromosomes Cancer 59 (7), 428-432 (2020)
   PUBMED   32237188
  REMARK    GeneRIF: A novel MBTD1-PHF1 gene fusion in endometrial stromal
            sarcoma: A case report and literature review.
            Review article
REFERENCE   5  (bases 1 to 5365)
  AUTHORS   Zhang,H., Devoucoux,M., Song,X., Li,L., Ayaz,G., Cheng,H.,
            Tempel,W., Dong,C., Loppnau,P., Cote,J. and Min,J.
  TITLE     Structural Basis for EPC1-Mediated Recruitment of MBTD1 into the
            NuA4/TIP60 Acetyltransferase Complex
  JOURNAL   Cell Rep 30 (12), 3996-4002 (2020)
   PUBMED   32209463
  REMARK    GeneRIF: Structural Basis for EPC1-Mediated Recruitment of MBTD1
            into the NuA4/TIP60 Acetyltransferase Complex.
REFERENCE   6  (bases 1 to 5365)
  AUTHORS   Jacquet,K., Fradet-Turcotte,A., Avvakumov,N., Lambert,J.P.,
            Roques,C., Pandita,R.K., Paquet,E., Herst,P., Gingras,A.C.,
            Pandita,T.K., Legube,G., Doyon,Y., Durocher,D. and Cote,J.
  TITLE     The TIP60 Complex Regulates Bivalent Chromatin Recognition by 53BP1
            through Direct H4K20me Binding and H2AK15 Acetylation
  JOURNAL   Mol Cell 62 (3), 409-421 (2016)
   PUBMED   27153538
REFERENCE   7  (bases 1 to 5365)
  AUTHORS   de Rooij,J.D., van den Heuvel-Eibrink,M.M., Kollen,W.J.,
            Sonneveld,E., Kaspers,G.J., Beverloo,H.B., Fornerod,M., Pieters,R.
            and Zwaan,C.M.
  TITLE     Recurrent translocation t(10;17)(p15;q21) in minimally
            differentiated acute myeloid leukemia results in ZMYND11/MBTD1
            fusion
  JOURNAL   Genes Chromosomes Cancer 55 (3), 237-241 (2016)
   PUBMED   26608508
  REMARK    GeneRIF: In this study, we show that this translocation results in
            an in-frame translocation fusing exon 12 of the tumor suppressor
            gene ZMYND11 to exon 3 of the chromatin protein MBTD1, encoding a
            protein of 1,054 amino acids
REFERENCE   8  (bases 1 to 5365)
  AUTHORS   Dewaele,B., Przybyl,J., Quattrone,A., Finalet Ferreiro,J.,
            Vanspauwen,V., Geerdens,E., Gianfelici,V., Kalender,Z., Wozniak,A.,
            Moerman,P., Sciot,R., Croce,S., Amant,F., Vandenberghe,P., Cools,J.
            and Debiec-Rychter,M.
  TITLE     Identification of a novel, recurrent MBTD1-CXorf67 fusion in
            low-grade endometrial stromal sarcoma
  JOURNAL   Int J Cancer 134 (5), 1112-1122 (2014)
   PUBMED   23959973
  REMARK    GeneRIF: The chimeric MBTD1-CXorf67 fusion identifies yet another
            cytogenetically distinct subgroup of low-grade Endometrial stromal
            sarcomas and offers the opportunity to shed light on the functions
            of two poorly characterized genes.
REFERENCE   9  (bases 1 to 5365)
  AUTHORS   Eryilmaz,J., Pan,P., Amaya,M.F., Allali-Hassani,A., Dong,A.,
            Adams-Cioaba,M.A., Mackenzie,F., Vedadi,M. and Min,J.
  TITLE     Structural studies of a four-MBT repeat protein MBTD1
  JOURNAL   PLoS One 4 (10), e7274 (2009)
   PUBMED   19841675
  REMARK    GeneRIF: structural analysis of a four-MBT repeat protein MBTD1
            Publication Status: Online-Only
REFERENCE   10 (bases 1 to 5365)
  AUTHORS   Doyon,Y., Selleck,W., Lane,W.S., Tan,S. and Cote,J.
  TITLE     Structural and functional conservation of the NuA4 histone
            acetyltransferase complex from yeast to humans
  JOURNAL   Mol Cell Biol 24 (5), 1884-1896 (2004)
   PUBMED   14966270
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BU195532.1, BC034364.1, CN310792.1, AC005839.1, AL133577.1 and
            BQ022382.1.
            
            On Nov 22, 2018 this sequence version replaced NM_017643.2.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by {transcript alignments and orthologous data.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853567.13427.1,
                                           SRR11853566.12131.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000586178.6/ ENSP00000468304.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-12                BU195532.1         18-29
            13-2049             BC034364.1         1-2037
            2050-2624           CN310792.1         99-673
            2625-4310           AC005839.1         104963-106648       c
            4311-5363           AL133577.1         1-1053
            5364-5365           BQ022382.1         16-17               c
FEATURES             Location/Qualifiers
     source          1..5365
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.33"
     gene            1..5365
                     /gene="MBTD1"
                     /gene_synonym="SA49P01"
                     /note="mbt domain containing 1"
                     /db_xref="GeneID:54799"
                     /db_xref="HGNC:HGNC:19866"
                     /db_xref="MIM:618705"
     exon            1..215
                     /gene="MBTD1"
                     /gene_synonym="SA49P01"
                     /inference="alignment:Splign:2.1.0"
     exon            216..279
                     /gene="MBTD1"
                     /gene_synonym="SA49P01"
                     /inference="alignment:Splign:2.1.0"
     exon            280..481
                     /gene="MBTD1"
                     /gene_synonym="SA49P01"
                     /inference="alignment:Splign:2.1.0"
     CDS             328..2214
                     /gene="MBTD1"
                     /gene_synonym="SA49P01"
                     /codon_start=1
                     /product="MBT domain-containing protein 1"
                     /protein_id="NP_060113.2"
                     /db_xref="CCDS:CCDS11581.2"
                     /db_xref="GeneID:54799"
                     /db_xref="HGNC:HGNC:19866"
                     /db_xref="MIM:618705"
                     /translation="MFDGYDSCSEDTSSSSSSEESEEEVAPLPSNLPIIKNNGQVYTY
                     PDGKSGMATCEMCGMVGVRDAFYSKTKRFCSVSCSRSYSSNSKKASILARLQGKPPTK
                     KAKVLQKQPLVAKLAAYAQYQATLQNQAKTKAAVSMEGFSWGNYINSNSFIAAPVTCF
                     KHAPMGTCWGDISENVRVEVPNTDCSLPTKVFWIAGIVKLAGYNALLRYEGFENDSGL
                     DFWCNICGSDIHPVGWCAASGKPLVPPRTIQHKYTNWKAFLVKRLTGAKTLPPDFSQK
                     VSESMQYPFKPCMRVEVVDKRHLCRTRVAVVESVIGGRLRLVYEESEDRTDDFWCHMH
                     SPLIHHIGWSRSIGHRFKRSDITKKQDGHFDTPPHLFAKVKEVDQSGEWFKEGMKLEA
                     IDPLNLSTICVATIRKVLADGFLMIGIDGSEAADGSDWFCYHATSPSIFPVGFCEINM
                     IELTPPRGYTKLPFKWFDYLRETGSIAAPVKLFNKDVPNHGFRVGMKLEAVDLMEPRL
                     ICVATVTRIIHRLLRIHFDGWEEEYDQWVDCESPDLYPVGWCQLTGYQLQPPASQSSR
                     ENQSASSKQKKKAKSQQYKGHKKMTTLQLKEELLDGEDYNFLQGASDQESNGSANFYI
                     KQEP"
     exon            482..615
                     /gene="MBTD1"
                     /gene_synonym="SA49P01"
                     /inference="alignment:Splign:2.1.0"
     exon            616..730
                     /gene="MBTD1"
                     /gene_synonym="SA49P01"
                     /inference="alignment:Splign:2.1.0"
     exon            731..813
                     /gene="MBTD1"
                     /gene_synonym="SA49P01"
                     /inference="alignment:Splign:2.1.0"
     exon            814..931
                     /gene="MBTD1"
                     /gene_synonym="SA49P01"
                     /inference="alignment:Splign:2.1.0"
     exon            932..1066
                     /gene="MBTD1"
                     /gene_synonym="SA49P01"
                     /inference="alignment:Splign:2.1.0"
     exon            1067..1155
                     /gene="MBTD1"
                     /gene_synonym="SA49P01"
                     /inference="alignment:Splign:2.1.0"
     exon            1156..1390
                     /gene="MBTD1"
                     /gene_synonym="SA49P01"
                     /inference="alignment:Splign:2.1.0"
     exon            1391..1446
                     /gene="MBTD1"
                     /gene_synonym="SA49P01"
                     /inference="alignment:Splign:2.1.0"
     exon            1447..1551
                     /gene="MBTD1"
                     /gene_synonym="SA49P01"
                     /inference="alignment:Splign:2.1.0"
     exon            1552..1699
                     /gene="MBTD1"
                     /gene_synonym="SA49P01"
                     /inference="alignment:Splign:2.1.0"
     exon            1700..1782
                     /gene="MBTD1"
                     /gene_synonym="SA49P01"
                     /inference="alignment:Splign:2.1.0"
     exon            1783..2017
                     /gene="MBTD1"
                     /gene_synonym="SA49P01"
                     /inference="alignment:Splign:2.1.0"
     exon            2018..2095
                     /gene="MBTD1"
                     /gene_synonym="SA49P01"
                     /inference="alignment:Splign:2.1.0"
     exon            2096..5365
                     /gene="MBTD1"
                     /gene_synonym="SA49P01"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5347..5352
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MBTD1"
                     /gene_synonym="SA49P01"
                     /note="hexamer: AATAAA"
     polyA_site      5365
                     /gene="MBTD1"
                     /gene_synonym="SA49P01"
                     /note="major polyA site"
ORIGIN      
        1 aatgttgttg atatcctggg gccacccgag ttaaaggggg gaaatccggg ggctgctgca
       61 cccgccaccg gtctgggccc agccgggggc cccctgtagt cgccgcagtc ccggggagag
      121 gcacctgccc ccagcccggg gagggggcgc cgcgggctcg gggagcacgg acaaccccta
      181 cccatgaggc cctgatggaa aacacaaagg atctgagtcg gaagagacat tagaggtcat
      241 ccaaagcagc cgtcccctct gcagcctctc tgacaagtga ctgaacattc ttcacgatct
      301 gaaaggaaaa gaagagattc tttcgggatg tttgacggtt atgatagctg cagtgaggac
      361 acaagcagca gctccagctc cgaagagagt gaggaagaag tcgctccttt accttctaat
      421 ctcccgatta tcaaaaacaa tgggcaagtc tacacatacc cagatggtaa atctggcatg
      481 gctacctgtg agatgtgtgg gatggttggc gtccgagatg ctttttactc taaaacaaag
      541 cgtttctgta gcgtttcatg ttcaagaagt tactcgtcaa actccaagaa ggcaagcatt
      601 ttggccagac ttcagggtaa gcctccaaca aagaaagcaa aagttcttca gaaacaacct
      661 ttagttgcta agctagccgc atatgctcag tatcaagcta ccttgcaaaa tcaagcaaag
      721 acaaaagcag cagtctccat ggaaggtttc agctggggta actacatcaa tagcaatagc
      781 tttatagcag ctccggttac ctgttttaaa catgcaccta tggggacctg ctggggtgat
      841 atctcagaaa atgtgagagt agaagttccc aatacagact gcagcctacc taccaaagtc
      901 ttctggattg ctggaattgt aaaattagca ggttacaatg cccttttaag atatgaagga
      961 tttgaaaatg actctggtct ggacttctgg tgcaatatat gtggttctga tatccatcca
     1021 gttggttggt gtgcagccag cggaaaacct cttgttcctc ctagaactat tcagcataaa
     1081 tatacaaact ggaaagcttt tctagtgaaa cgacttactg gtgccaaaac actgcctcct
     1141 gatttctccc aaaaggtttc agagagtatg cagtatcctt tcaaaccttg catgagagta
     1201 gaagtggttg acaagaggca tttgtgtcga acacgagtag cagtggtgga aagtgtaatt
     1261 ggaggaagat taagactagt gtatgaagaa agcgaagata gaacagatga cttctggtgc
     1321 catatgcaca gcccattaat acatcatatt ggttggtctc gaagcatagg tcatcgattc
     1381 aaaagatctg atattacaaa gaaacaggat ggacattttg atacaccacc acatttattt
     1441 gctaaggtaa aagaagtaga ccagagtggg gaatggttca aggaaggaat gaaattggaa
     1501 gctatagacc cattaaatct ttctacaata tgtgtcgcaa ccattagaaa ggtgctagct
     1561 gacggattcc tgatgattgg gatcgatggc tcagaagcag cagacggatc tgactggttc
     1621 tgttaccatg caacctctcc ttctattttc cctgtcggtt tctgtgaaat taacatgatt
     1681 gaacttactc cacccagagg ttacacaaaa cttcctttta aatggtttga ctacctcagg
     1741 gaaactggct ccattgcagc accagtaaaa ctatttaata aggatgttcc aaatcacgga
     1801 tttcgtgtag gaatgaaatt agaagcagta gatctcatgg agccacgttt aatatgtgta
     1861 gccacagtaa ctcgaattat tcatcgtctc ttgaggatac attttgatgg atgggaagaa
     1921 gagtatgatc agtgggtaga ctgtgagtca cctgacctct atcctgtagg gtggtgtcag
     1981 ttaactggat atcaactaca gcctccagca tcacagtcat caagagaaaa ccaatcagct
     2041 tcatcaaaac agaagaaaaa ggctaagtcc cagcaataca aaggacataa gaaaatgaca
     2101 acactgcagc tgaaggagga gttgctggat ggagaggatt ataatttcct tcaaggagcg
     2161 tctgatcagg aaagcaatgg ctctgccaac ttctacatca aacaagagcc atgaggtggc
     2221 ttagaaactg agggcgggtg gggaaggatt ttacacagga ctgatttata atcaatccag
     2281 ctgtacaggg ggctactcta ctgggacatt ttgctaaaca tagaagattt cagttccaga
     2341 tttttcaggt gggtggggga gctattttag tcgggggggc aggggggtgg gaaattttca
     2401 atttataaag atggacaatt tttgtgttgt atttgaagct tttgaaagaa ttttgtaata
     2461 ttttccaagt ttggatttat gtgcattgtt aacaagaact gaaattctaa cttttttggt
     2521 aacattaaag tttaggtagc aggattgaag gaaatgattt aagaaggata tagctgttaa
     2581 atgcaaatga actgtcatta caaatgaacc tttttggtac ctgttgggag attttgggat
     2641 ttttagaagt taggccagtc acatctccag cttcttttgc tgcagaaata tgcaactgaa
     2701 ctcctcatgg aggggtcatc accacaaagg tcatggaagg gtcattattt ctcttgttgg
     2761 cattttattg cagcccattt taaatgtttg tacagaaata tttttcattc tgtgaaaatt
     2821 tatttggagt tctgtatgaa actggaagaa ctctggatac ttttatatgt tctcttttaa
     2881 ttaaaaaaat gattagaatt atcctaacac taaagtgtta aactggaatg gttgacaaga
     2941 tattcaggat ctcagtctac acattgaggg gttggggaaa atgtaatgtt gtccttagtt
     3001 tattttcctt tctaaaaaaa ataccccacg aaagggattc tgatcagttc tctgccattt
     3061 ccctctatct gtgaaataac agcttcgtat aaccacaacc aaaaacagat gttctgtatt
     3121 aggagaatcg aattgaaagt tattcaaagc caaaataagt ttagatttca aaatcattcc
     3181 agctctgctt ttatctatcc tggatttggt agaaaactaa tttgaaagag aatttaattt
     3241 tcttaaaatt ccatatatat atatatatat atatatatat atatatatat atatatatat
     3301 atataaaatt gtctttaatt gtattcagga tttattttaa taataaccga tttggaccat
     3361 tttgaacatt ccctgtttta aaattcatat gacttccttt taaaaaaaaa aaaaggatac
     3421 aagggtaaac tggtgaaagg tttgctctct gcattttcta actttctact gagttgtgac
     3481 tgaatgagag cgctctagcg tttaccagtg aggttcataa actaaactct caggaattaa
     3541 ttgcatctgt tctagaagtg cttctgggtc ttagcctggc ctcttcagag tggtaatatt
     3601 gaccatctcc tctggaatat aggtagggct aattagaaat taatcaaaat gattaacctc
     3661 tacagtcctt cagcctatgg aatgctttaa aaaatgttaa tggaaagccc caggagacca
     3721 ttttaggtaa gacttttgtt tgaattttaa aatgcataga acgttaaaaa aaaccagcaa
     3781 tttattttct aaaatattgc tctacttttg ggaataatag cattggtaat acgcacaggt
     3841 ttacctcatt ctatgcaaga ggggttaata acataaggtt ttataatagc tactggaagt
     3901 aaaatttgtt actttatagt gtaagaatgt atggaatcgc atgtcaccat ttcttaatac
     3961 tgactcttta ggggcataaa tgcagatcac atcaacgcaa gttgattctc atgtgtcaaa
     4021 tatatgtgaa ttcagctgtt aaattactgg atatttatct taacattgct gagagggacc
     4081 tactgtaaat gtgacatcct cacacttccc atatctttaa ctttgaaaaa tcttcttgta
     4141 aacttaaagc ctagaagtat tccaaagcaa gggttagagc agtctttatt ctcaggctca
     4201 ctgaattaaa cccaggacta attccacagc acaggcacaa gaagcctgtt gtgtagtgta
     4261 ctctgccagt accttggatt taggagctcc atggggaact gactaaacca ggagagagag
     4321 gatttggagc tagtcagtcc tggtaatcta tgaaatgctc atttataccc aggtttcata
     4381 agcttccaat tctatagcaa acccaggctc tgagtgtttt agaatttcct aattcatgaa
     4441 gtgtttcttg tcttgatccc gtgaccaaca gttgaaggtt ggtaaggact tttctacagt
     4501 ctgaacacaa cctaaagccc tctttcattg ttcacacact aactcctact gccgacgaac
     4561 cgaaaaataa ttaatgcaga ggagatttat gtcttagcca taactccagt tgtacaactc
     4621 aatcgcccca ttctctttta cggttcaaaa tgtactgctg accttgggtt tgtttttgtt
     4681 ttgttttgtt tttcctgtta ggatttattt ggggactttt ggtagtttaa actctttaac
     4741 cttttccttg ccgtgtatga ggaaagctaa agctgttatc aacttcttat tctacgatac
     4801 taacacgggt tttcagtgtt tgtttgtttt tattattatt attaattttg cgtgatgtga
     4861 ataccctctc ccatcaatat ttgtattatg gtgctatata ttggtaatga tcctttaata
     4921 ttgggaaggg attttaaaaa tactgtgatt aaactgggtt tcttcctttg attttcatat
     4981 tttaaataaa gccacagtca tttatacaaa agaaaagcat ctgtccctgg gcaaatcttt
     5041 tgaggacaga ggtcaaagta aactgcataa ggtttttaca tcatttctgt atgtatttga
     5101 tatatagatc aatatctgta caaatttaat cttttatttt cttggtaact cgtgatcatt
     5161 gagaaagtgt ttgaaacttt ctcatgaagt gtatatataa tggcgtgaaa aattcctttg
     5221 gaaaaattta tgttcctttc atttttacca aattgcaaat tttcagcatg gatgtgaaaa
     5281 gcattaaaat tataactttg tgtacaagat gaaaataatt cactaaattt gccctttttt
     5341 acacaaaata aaatgttaaa gttaa
//
