LOCUS       NM_004336               3762 bp    mRNA    linear   PRI 18-NOV-2024
DEFINITION  Homo sapiens BUB1 mitotic checkpoint serine/threonine kinase
            (BUB1), transcript variant 1, mRNA.
ACCESSION   NM_004336
VERSION     NM_004336.5
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 3762)
  AUTHORS   Wang,K., Shen,K., Wang,J., Yang,K., Zhu,J., Chen,Y., Liu,X., He,Y.,
            Zhu,X., Zhan,Q., Shi,T. and Li,R.
  TITLE     BUB1 potentiates gastric cancer proliferation and metastasis by
            activating TRAF6/NF-kappaB/FGF18 through m6A modification
  JOURNAL   Life Sci 353, 122916 (2024)
   PUBMED   39025206
  REMARK    GeneRIF: BUB1 potentiates gastric cancer proliferation and
            metastasis by activating TRAF6/NF-kappaB/FGF18 through m6A
            modification.
REFERENCE   2  (bases 1 to 3762)
  AUTHORS   Wang,M., You,L., Su,Z., He,Y., Li,D. and Liu,Z.
  TITLE     BUB1 induces AKT/mTOR pathway activity to promote EMT induction in
            human small cell lung cancer
  JOURNAL   Sci Rep 14 (1), 20654 (2024)
   PUBMED   39232038
  REMARK    GeneRIF: BUB1 induces AKT/mTOR pathway activity to promote EMT
            induction in human small cell lung cancer.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3762)
  AUTHORS   Kliche,J., Simonetti,L., Krystkowiak,I., Kuss,H., Diallo,M.,
            Rask,E., Nilsson,J., Davey,N.E. and Ivarsson,Y.
  TITLE     Proteome-scale characterisation of motif-based interactome rewiring
            by disease mutations
  JOURNAL   Mol Syst Biol 20 (9), 1025-1048 (2024)
   PUBMED   39009827
REFERENCE   4  (bases 1 to 3762)
  AUTHORS   Zhang,H., Li,Y. and Lu,H.
  TITLE     Correlation of BUB1 and BUB1B with the development and prognosis of
            endometrial cancer
  JOURNAL   Sci Rep 14 (1), 17084 (2024)
   PUBMED   39048649
  REMARK    GeneRIF: Correlation of BUB1 and BUB1B with the development and
            prognosis of endometrial cancer.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3762)
  AUTHORS   Seeley,T.W., Wang,L. and Zhen,J.Y.
  TITLE     Phosphorylation of human MAD1 by the BUB1 kinase in vitro
  JOURNAL   Biochem Biophys Res Commun 257 (2), 589-595 (1999)
   PUBMED   10198256
REFERENCE   6  (bases 1 to 3762)
  AUTHORS   Jablonski,S.A., Chan,G.K., Cooke,C.A., Earnshaw,W.C. and Yen,T.J.
  TITLE     The hBUB1 and hBUBR1 kinases sequentially assemble onto
            kinetochores during prophase with hBUBR1 concentrating at the
            kinetochore plates in mitosis
  JOURNAL   Chromosoma 107 (6-7), 386-396 (1998)
   PUBMED   9914370
REFERENCE   7  (bases 1 to 3762)
  AUTHORS   Ouyang,B., Lan,Z., Meadows,J., Pan,H., Fukasawa,K., Li,W. and
            Dai,W.
  TITLE     Human Bub1: a putative spindle checkpoint kinase closely linked to
            cell proliferation
  JOURNAL   Cell Growth Differ 9 (10), 877-885 (1998)
   PUBMED   9790499
REFERENCE   8  (bases 1 to 3762)
  AUTHORS   Taylor,S.S., Ha,E. and McKeon,F.
  TITLE     The human homologue of Bub3 is required for kinetochore
            localization of Bub1 and a Mad3/Bub1-related protein kinase
  JOURNAL   J Cell Biol 142 (1), 1-11 (1998)
   PUBMED   9660858
REFERENCE   9  (bases 1 to 3762)
  AUTHORS   Cahill,D.P., Lengauer,C., Yu,J., Riggins,G.J., Willson,J.K.,
            Markowitz,S.D., Kinzler,K.W. and Vogelstein,B.
  TITLE     Mutations of mitotic checkpoint genes in human cancers
  JOURNAL   Nature 392 (6673), 300-303 (1998)
   PUBMED   9521327
REFERENCE   10 (bases 1 to 3762)
  AUTHORS   Pangilinan,F., Li,Q., Weaver,T., Lewis,B.C., Dang,C.V. and
            Spencer,F.
  TITLE     Mammalian BUB1 protein kinases: map positions and in vivo
            expression
  JOURNAL   Genomics 46 (3), 379-388 (1997)
   PUBMED   9441741
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC226101.3 and AF047471.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_004336.4.
            
            Summary: This gene encodes a serine/threonine-protein kinase that
            play a central role in mitosis. The encoded protein functions in
            part by phosphorylating members of the mitotic checkpoint complex
            and activating the spindle checkpoint. This protein also plays a
            role in inhibiting the activation of the anaphase promoting
            complex/cyclosome. This protein may also function in the DNA damage
            response. Mutations in this gene have been associated with
            aneuploidy and several forms of cancer. Alternate splicing results
            in multiple transcript variants. [provided by RefSeq, Jul 2013].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: AF047471.1, AK291221.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000302759.11/ ENSP00000302530.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-33                AC226101.3         2162-2194
            34-3458             AF047471.1         1-3425
            3459-3762           AC226101.3         42394-42697
FEATURES             Location/Qualifiers
     source          1..3762
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q13"
     gene            1..3762
                     /gene="BUB1"
                     /gene_synonym="BUB1A; BUB1L; hBUB1; MCPH30"
                     /note="BUB1 mitotic checkpoint serine/threonine kinase"
                     /db_xref="GeneID:699"
                     /db_xref="HGNC:HGNC:1148"
                     /db_xref="MIM:602452"
     exon            1..94
                     /gene="BUB1"
                     /gene_synonym="BUB1A; BUB1L; hBUB1; MCPH30"
                     /inference="alignment:Splign:2.1.0"
     CDS             69..3326
                     /gene="BUB1"
                     /gene_synonym="BUB1A; BUB1L; hBUB1; MCPH30"
                     /EC_number="2.7.11.1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     putative serine/threonine-protein kinase; mitotic spindle
                     checkpoint kinase; BUB1 budding uninhibited by
                     benzimidazoles 1 homolog"
                     /codon_start=1
                     /product="mitotic checkpoint serine/threonine-protein
                     kinase BUB1 isoform 1"
                     /protein_id="NP_004327.1"
                     /db_xref="CCDS:CCDS33273.1"
                     /db_xref="GeneID:699"
                     /db_xref="HGNC:HGNC:1148"
                     /db_xref="MIM:602452"
                     /translation="MDTPENVLQMLEAHMQSYKGNDPLGEWERYIQWVEENFPENKEY
                     LITLLEHLMKEFLDKKKYHNDPRFISYCLKFAEYNSDLHQFFEFLYNHGIGTLSSPLY
                     IAWAGHLEAQGELQHASAVLQRGIQNQAEPREFLQQQYRLFQTRLTETHLPAQARTSE
                     PLHNVQVLNQMITSKSNPGNNMACISKNQGSELSGVISSACDKESNMERRVITISKSE
                     YSVHSSLASKVDVEQVVMYCKEKLIRGESEFSFEELRAQKYNQRRKHEQWVNEDRHYM
                     KRKEANAFEEQLLKQKMDELHKKLHQVVETSHEDLPASQERSEVNPARMGPSVGSQQE
                     LRAPCLPVTYQQTPVNMEKNPREAPPVVPPLANAISAALVSPATSQSIAPPVPLKAQT
                     VTDSMFAVASKDAGCVNKSTHEFKPQSGAEIKEGCETHKVANTSSFHTTPNTSLGMVQ
                     ATPSKVQPSPTVHTKEALGFIMNMFQAPTLPDISDDKDEWQSLDQNEDAFEAQFQKNV
                     RSSGAWGVNKIISSLSSAFHVFEDGNKENYGLPQPKNKPTGARTFGERSVSRLPSKPK
                     EEVPHAEEFLDDSTVWGIRCNKTLAPSPKSPGDFTSAAQLASTPFHKLPVESVHILED
                     KENVVAKQCTQATLDSCEENMVVPSRDGKFSPIQEKSPKQALSSHMYSASLLRLSQPA
                     AGGVLTCEAELGVEACRLTDTDAAIAEDPPDAIAGLQAEWMQMSSLGTVDAPNFIVGN
                     PWDDKLIFKLLSGLSKPVSSYPNTFEWQCKLPAIKPKTEFQLGSKLVYVHHLLGEGAF
                     AQVYEATQGDLNDAKNKQKFVLKVQKPANPWEFYIGTQLMERLKPSMQHMFMKFYSAH
                     LFQNGSVLVGELYSYGTLLNAINLYKNTPEKVMPQGLVISFAMRMLYMIEQVHDCEII
                     HGDIKPDNFILGNGFLEQDDEDDLSAGLALIDLGQSIDMKLFPKGTIFTAKCETSGFQ
                     CVEMLSNKPWNYQIDYFGVAATVYCMLFGTYMKVKNEGGECKPEGLFRRLPHLDMWNE
                     FFHVMLNIPDCHHLPSLDLLRQKLKKVFQQHYTNKIRALRNRLIVLLLECKRSRK"
     exon            95..154
                     /gene="BUB1"
                     /gene_synonym="BUB1A; BUB1L; hBUB1; MCPH30"
                     /inference="alignment:Splign:2.1.0"
     exon            155..293
                     /gene="BUB1"
                     /gene_synonym="BUB1A; BUB1L; hBUB1; MCPH30"
                     /inference="alignment:Splign:2.1.0"
     exon            294..490
                     /gene="BUB1"
                     /gene_synonym="BUB1A; BUB1L; hBUB1; MCPH30"
                     /inference="alignment:Splign:2.1.0"
     exon            491..534
                     /gene="BUB1"
                     /gene_synonym="BUB1A; BUB1L; hBUB1; MCPH30"
                     /inference="alignment:Splign:2.1.0"
     exon            535..635
                     /gene="BUB1"
                     /gene_synonym="BUB1A; BUB1L; hBUB1; MCPH30"
                     /inference="alignment:Splign:2.1.0"
     exon            636..688
                     /gene="BUB1"
                     /gene_synonym="BUB1A; BUB1L; hBUB1; MCPH30"
                     /inference="alignment:Splign:2.1.0"
     exon            689..873
                     /gene="BUB1"
                     /gene_synonym="BUB1A; BUB1L; hBUB1; MCPH30"
                     /inference="alignment:Splign:2.1.0"
     exon            874..1025
                     /gene="BUB1"
                     /gene_synonym="BUB1A; BUB1L; hBUB1; MCPH30"
                     /inference="alignment:Splign:2.1.0"
     exon            1026..1285
                     /gene="BUB1"
                     /gene_synonym="BUB1A; BUB1L; hBUB1; MCPH30"
                     /inference="alignment:Splign:2.1.0"
     exon            1286..1344
                     /gene="BUB1"
                     /gene_synonym="BUB1A; BUB1L; hBUB1; MCPH30"
                     /inference="alignment:Splign:2.1.0"
     exon            1345..1473
                     /gene="BUB1"
                     /gene_synonym="BUB1A; BUB1L; hBUB1; MCPH30"
                     /inference="alignment:Splign:2.1.0"
     exon            1474..1584
                     /gene="BUB1"
                     /gene_synonym="BUB1A; BUB1L; hBUB1; MCPH30"
                     /inference="alignment:Splign:2.1.0"
     exon            1585..1684
                     /gene="BUB1"
                     /gene_synonym="BUB1A; BUB1L; hBUB1; MCPH30"
                     /inference="alignment:Splign:2.1.0"
     exon            1685..1766
                     /gene="BUB1"
                     /gene_synonym="BUB1A; BUB1L; hBUB1; MCPH30"
                     /inference="alignment:Splign:2.1.0"
     exon            1767..1944
                     /gene="BUB1"
                     /gene_synonym="BUB1A; BUB1L; hBUB1; MCPH30"
                     /inference="alignment:Splign:2.1.0"
     exon            1945..2032
                     /gene="BUB1"
                     /gene_synonym="BUB1A; BUB1L; hBUB1; MCPH30"
                     /inference="alignment:Splign:2.1.0"
     exon            2033..2271
                     /gene="BUB1"
                     /gene_synonym="BUB1A; BUB1L; hBUB1; MCPH30"
                     /inference="alignment:Splign:2.1.0"
     exon            2272..2415
                     /gene="BUB1"
                     /gene_synonym="BUB1A; BUB1L; hBUB1; MCPH30"
                     /inference="alignment:Splign:2.1.0"
     exon            2416..2531
                     /gene="BUB1"
                     /gene_synonym="BUB1A; BUB1L; hBUB1; MCPH30"
                     /inference="alignment:Splign:2.1.0"
     exon            2532..2693
                     /gene="BUB1"
                     /gene_synonym="BUB1A; BUB1L; hBUB1; MCPH30"
                     /inference="alignment:Splign:2.1.0"
     exon            2694..2851
                     /gene="BUB1"
                     /gene_synonym="BUB1A; BUB1L; hBUB1; MCPH30"
                     /inference="alignment:Splign:2.1.0"
     exon            2852..3023
                     /gene="BUB1"
                     /gene_synonym="BUB1A; BUB1L; hBUB1; MCPH30"
                     /inference="alignment:Splign:2.1.0"
     exon            3024..3130
                     /gene="BUB1"
                     /gene_synonym="BUB1A; BUB1L; hBUB1; MCPH30"
                     /inference="alignment:Splign:2.1.0"
     exon            3131..3762
                     /gene="BUB1"
                     /gene_synonym="BUB1A; BUB1L; hBUB1; MCPH30"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3430..3435
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BUB1"
                     /gene_synonym="BUB1A; BUB1L; hBUB1; MCPH30"
                     /note="hexamer: AATAAA"
     polyA_site      3458
                     /gene="BUB1"
                     /gene_synonym="BUB1A; BUB1L; hBUB1; MCPH30"
                     /note="major polyA site"
     regulatory      3741..3746
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BUB1"
                     /gene_synonym="BUB1A; BUB1L; hBUB1; MCPH30"
                     /note="hexamer: AATAAA"
     polyA_site      3762
                     /gene="BUB1"
                     /gene_synonym="BUB1A; BUB1L; hBUB1; MCPH30"
ORIGIN      
        1 attcgaatcg gcggcggctt ctagtttgcg gttcaggttt ggccgctgcc ggccagcgtc
       61 ctctggccat ggacaccccg gaaaatgtcc ttcagatgct tgaagcccac atgcagagct
      121 acaagggcaa tgaccctctt ggtgaatggg aaagatacat acagtgggta gaagagaatt
      181 ttcctgagaa taaagaatac ttgataactt tactagaaca tttaatgaag gaatttttag
      241 ataagaagaa ataccacaat gacccaagat tcatcagtta ttgtttaaaa tttgctgagt
      301 acaacagtga cctccatcaa ttttttgagt ttctgtacaa ccatgggatt ggaaccctgt
      361 catcccctct gtacattgcc tgggcggggc atctggaagc ccaaggagag ctgcagcatg
      421 ccagtgctgt ccttcagaga ggaattcaaa accaggctga acccagagag ttcctgcaac
      481 aacaatacag gttatttcag acacgcctca ctgaaaccca tttgccagct caagctagaa
      541 cctcagaacc tctgcataat gttcaggttt taaatcaaat gataacatca aaatcaaatc
      601 caggaaataa catggcctgc atttctaaga atcagggttc agagctttct ggagtgatat
      661 cttcagcttg tgataaagag tcaaatatgg aacgaagagt gatcacgatt tctaaatcag
      721 aatattctgt gcactcatct ttggcatcca aagttgatgt tgagcaggtt gttatgtatt
      781 gcaaggagaa gcttattcgt ggggaatcag aattttcctt tgaagaattg agagcccaga
      841 aatacaatca acggagaaag catgagcaat gggtaaatga agacagacat tatatgaaaa
      901 ggaaagaagc aaatgctttt gaagaacagc tattaaaaca gaaaatggat gaacttcata
      961 agaagttgca tcaggtggtg gagacatccc atgaggatct gcccgcttcc caggaaaggt
     1021 ccgaggttaa tccagcacgt atggggccaa gtgtaggctc ccagcaggaa ctgagagcgc
     1081 catgtcttcc agtaacctat cagcagacac cagtgaacat ggaaaagaac ccaagagagg
     1141 cacctcctgt tgttcctcct ttggcaaatg ctatttctgc agctttggtg tccccagcca
     1201 ccagccagag cattgctcct cctgttcctt tgaaagccca gacagtaaca gactccatgt
     1261 ttgcagtggc cagcaaagat gctggatgtg tgaataagag tactcatgaa ttcaagccac
     1321 agagtggagc agagatcaaa gaagggtgtg aaacacataa ggttgccaac acaagttctt
     1381 ttcacacaac tccaaacaca tcactgggaa tggttcaggc aacgccatcc aaagtgcagc
     1441 catcacccac cgtgcacaca aaagaagcat taggtttcat catgaatatg tttcaggctc
     1501 ctacacttcc tgatatttct gatgacaaag atgaatggca atctctagat caaaatgaag
     1561 atgcatttga agcccagttt caaaaaaatg taaggtcatc tggggcttgg ggagtcaata
     1621 agatcatctc ttctttgtca tctgcttttc atgtgtttga agatggaaac aaagaaaatt
     1681 atggattacc acagcctaaa aataaaccca caggagccag gacctttgga gaacgctctg
     1741 tcagcagact tccttcaaaa ccaaaggagg aagtgcctca tgctgaagag tttttggatg
     1801 actcaactgt atggggtatt cgctgcaaca aaaccctggc acccagtcct aagagcccag
     1861 gagacttcac atctgctgca caacttgcgt ctacaccatt ccacaagctt ccagtggagt
     1921 cagtgcacat tttagaagat aaagaaaatg tggtagcaaa acagtgtacc caggcgactt
     1981 tggattcttg tgaggaaaac atggtggtgc cttcaaggga tggaaaattc agtccaattc
     2041 aagagaaaag cccaaaacag gccttgtcgt ctcacatgta ttcagcatcc ttacttcgtc
     2101 tgagccagcc tgctgcaggt ggggtactta cctgtgaggc agagttgggc gttgaggctt
     2161 gcagactcac agacactgac gctgccattg cagaagatcc accagatgct attgctgggc
     2221 tccaagcaga atggatgcag atgagttcac ttgggactgt tgatgctcca aacttcattg
     2281 ttgggaaccc atgggatgat aagctgattt tcaaactttt atctgggctt tctaaaccag
     2341 tgagttccta tccaaatact tttgaatggc aatgtaaact tccagccatc aagcccaaga
     2401 ctgaatttca attgggttct aagctggtct atgtccatca ccttcttgga gaaggagcct
     2461 ttgcccaggt gtacgaagct acccagggag atctgaatga tgctaaaaat aaacagaaat
     2521 ttgttttaaa ggtccaaaag cctgccaacc cctgggaatt ctacattggg acccagttga
     2581 tggaaagact aaagccatct atgcagcaca tgtttatgaa gttctattct gcccacttat
     2641 tccagaatgg cagtgtatta gtaggagagc tctacagcta tggaacatta ttaaatgcca
     2701 ttaacctcta taaaaatacc cctgaaaaag tgatgcctca aggtcttgtc atctcttttg
     2761 ctatgagaat gctttacatg attgagcaag tgcatgactg tgaaatcatt catggagaca
     2821 ttaaaccaga caatttcata cttggaaacg gatttttgga acaggatgat gaagatgatt
     2881 tatctgctgg cttggcactg attgacctgg gtcagagtat agatatgaaa ctttttccaa
     2941 aaggaactat attcacagca aagtgtgaaa catctggttt tcagtgtgtt gagatgctca
     3001 gcaacaaacc atggaactac cagatcgatt actttggggt tgctgcaaca gtatattgca
     3061 tgctctttgg cacttacatg aaagtgaaaa atgaaggagg agagtgtaag cctgaaggtc
     3121 tttttagaag gcttcctcat ttggatatgt ggaatgaatt ttttcatgtt atgttgaata
     3181 ttccagattg tcatcatctt ccatctttgg atttgttaag gcaaaagctg aagaaagtat
     3241 ttcaacaaca ctatactaac aagattaggg ccctacgtaa taggctaatt gtactgctct
     3301 tagaatgtaa gcgttcacga aaataaaatt tggatataga cagtccttaa aaatcacact
     3361 gtaaatatga atctgctcac tttaaacctg tttttttttc atttattgtt tatgtaaatg
     3421 tttgttaaaa ataaatccca tggaatattt ccatgtaact tagttgttat aaatatttca
     3481 acaaaatata caaccccata aggtccctat atagcaggct gattgggctg cttctgggat
     3541 gcaagcattt gtgagaataa ttcagacatg agcattctct agaaatcact ttttaaacac
     3601 tgacctgttt aagccaaaaa agggccaaga cagctatttt ccaaatttga agtttggtgt
     3661 ctgtgtaaac acacacacac acacacacac acacacacac acacttccct aacatttcca
     3721 agggacttca agtttttatg aataaagctt gcctgtcctt ta
//
