LOCUS       NM_014757               5748 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens mastermind like transcriptional coactivator 1 (MAML1),
            mRNA.
ACCESSION   NM_014757 XM_937023
VERSION     NM_014757.5
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 5748)
  AUTHORS   Lim,J., Frecot,D.I., Stubenrauch,F., Iftner,T. and Simon,C.
  TITLE     Cottontail rabbit papillomavirus E6 proteins: Interaction with
            MAML1 and modulation of the Notch signaling pathway
  JOURNAL   Virology 576, 52-60 (2022)
   PUBMED   36155393
  REMARK    GeneRIF: Cottontail rabbit papillomavirus E6 proteins: Interaction
            with MAML1 and modulation of the Notch signaling pathway.
REFERENCE   2  (bases 1 to 5748)
  AUTHORS   Hamidi,A.A., Forghanifard,M.M., Gholamin,M., Moghbeli,M., Memar,B.,
            Jangjoo,A., Motie,M.R., Molaei,F. and Abbaszadegan,M.R.
  TITLE     Elucidated tumorigenic role of MAML1 and TWIST1 in gastric cancer
            is associated with Helicobacter pylori infection
  JOURNAL   Microb Pathog 162, 105304 (2022)
   PUBMED   34818576
  REMARK    GeneRIF: Elucidated tumorigenic role of MAML1 and TWIST1 in gastric
            cancer is associated with Helicobacter pylori infection.
REFERENCE   3  (bases 1 to 5748)
  AUTHORS   Kim,J., Kwon,H., Shin,Y.K., Song,G., Lee,T., Kim,Y., Jeong,W.,
            Lee,U., Zhang,X., Nam,G., Jeung,H.C., Kim,W. and Jho,E.H.
  TITLE     MAML1/2 promote YAP/TAZ nuclear localization and tumorigenesis
  JOURNAL   Proc Natl Acad Sci U S A 117 (24), 13529-13540 (2020)
   PUBMED   32482852
  REMARK    GeneRIF: MAML1/2 promote YAP/TAZ nuclear localization and
            tumorigenesis.
REFERENCE   4  (bases 1 to 5748)
  AUTHORS   Rogers,J.M., Guo,B., Egan,E.D., Aster,J.C., Adelman,K. and
            Blacklow,S.C.
  TITLE     MAML1-Dependent Notch-Responsive Genes Exhibit Differing Cofactor
            Requirements for Transcriptional Activation
  JOURNAL   Mol Cell Biol 40 (11), e00014-20 (2020)
   PUBMED   32179552
  REMARK    GeneRIF: MAML1-Dependent Notch-Responsive Genes Exhibit Differing
            Cofactor Requirements for Transcriptional Activation.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5748)
  AUTHORS   Forghanifard,M.M., Azaraz,S., Ardalan Khales,S., Morshedi Rad,D.
            and Abbaszadegan,M.R.
  TITLE     MAML1 promotes ESCC aggressiveness through upregulation of EMT
            marker TWIST1
  JOURNAL   Mol Biol Rep 47 (4), 2659-2668 (2020)
   PUBMED   32180088
  REMARK    GeneRIF: MAML1 promotes ESCC aggressiveness through upregulation of
            EMT marker TWIST1.
REFERENCE   6  (bases 1 to 5748)
  AUTHORS   Fryer,C.J., Lamar,E., Turbachova,I., Kintner,C. and Jones,K.A.
  TITLE     Mastermind mediates chromatin-specific transcription and turnover
            of the Notch enhancer complex
  JOURNAL   Genes Dev 16 (11), 1397-1411 (2002)
   PUBMED   12050117
  REMARK    GeneRIF: Mastermind mediates chromatin-specific transcription and
            turnover of the Notch enhancer complex
REFERENCE   7  (bases 1 to 5748)
  AUTHORS   Wu,G., Lyapina,S., Das,I., Li,J., Gurney,M., Pauley,A., Chui,I.,
            Deshaies,R.J. and Kitajewski,J.
  TITLE     SEL-10 is an inhibitor of notch signaling that targets notch for
            ubiquitin-mediated protein degradation
  JOURNAL   Mol Cell Biol 21 (21), 7403-7415 (2001)
   PUBMED   11585921
REFERENCE   8  (bases 1 to 5748)
  AUTHORS   Kitagawa,M., Oyama,T., Kawashima,T., Yedvobnick,B., Kumar,A.,
            Matsuno,K. and Harigaya,K.
  TITLE     A human protein with sequence similarity to Drosophila mastermind
            coordinates the nuclear form of notch and a CSL protein to build a
            transcriptional activator complex on target promoters
  JOURNAL   Mol Cell Biol 21 (13), 4337-4346 (2001)
   PUBMED   11390662
REFERENCE   9  (bases 1 to 5748)
  AUTHORS   Wu,L., Aster,J.C., Blacklow,S.C., Lake,R., Artavanis-Tsakonas,S.
            and Griffin,J.D.
  TITLE     MAML1, a human homologue of Drosophila mastermind, is a
            transcriptional co-activator for NOTCH receptors
  JOURNAL   Nat Genet 26 (4), 484-489 (2000)
   PUBMED   11101851
REFERENCE   10 (bases 1 to 5748)
  AUTHORS   Hsieh,J.J., Zhou,S., Chen,L., Young,D.B. and Hayward,S.D.
  TITLE     CIR, a corepressor linking the DNA binding factor CBF1 to the
            histone deacetylase complex
  JOURNAL   Proc Natl Acad Sci U S A 96 (1), 23-28 (1999)
   PUBMED   9874765
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC113426.2, D83785.1,
            AF221759.1 and AA975821.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_014757.4.
            
            Summary: This protein is the human homolog of mastermind, a
            Drosophila protein that plays a role in the Notch signaling pathway
            involved in cell-fate determination. There is in vitro evidence
            that the human homolog forms a complex with the intracellular
            portion of human Notch receptors and can increase expression of a
            Notch-induced gene. This evidence supports its proposed function as
            a transcriptional co-activator in the Notch signaling pathway.
            [provided by RefSeq, Jul 2008].
            
            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 :: D83785.1, DRR138524.171331.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000292599.4/ ENSP00000292599.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-28                AC113426.2         122181-122208
            29-4832             D83785.1           1-4804
            4833-5745           AF221759.1         4173-5085
            5746-5748           AA975821.1         6-8                 c
FEATURES             Location/Qualifiers
     source          1..5748
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.3"
     gene            1..5748
                     /gene="MAML1"
                     /gene_synonym="Mam-1; Mam1"
                     /note="mastermind like transcriptional coactivator 1"
                     /db_xref="GeneID:9794"
                     /db_xref="HGNC:HGNC:13632"
                     /db_xref="MIM:605424"
     exon            1..606
                     /gene="MAML1"
                     /gene_synonym="Mam-1; Mam1"
                     /inference="alignment:Splign:2.1.0"
     CDS             292..3342
                     /gene="MAML1"
                     /gene_synonym="Mam-1; Mam1"
                     /note="mastermind homolog; mastermind-like 1"
                     /codon_start=1
                     /product="mastermind-like protein 1"
                     /protein_id="NP_055572.1"
                     /db_xref="CCDS:CCDS34315.1"
                     /db_xref="GeneID:9794"
                     /db_xref="HGNC:HGNC:13632"
                     /db_xref="MIM:605424"
                     /translation="MVLPTCPMAEFALPRHSAVMERLRRRIELCRRHHSTCEARYEAV
                     SPERLELERQHTFALHQRCIQAKAKRAGKHRQPPAATAPAPAAPAPRLDAADGPEHGR
                     PATHLHDTVKRNLDSATSPQNGDQQNGYGDLFPGHKKTRREAPLGVAISSNGLPPASP
                     LGQSDKPSGADALQSSGKHSLGLDSLNKKRLADSSLHLNGGSNPSESFPLSLNKELKQ
                     EPVEDLPCMITGTVGSISQSNLMPDLNLNEQEWKELIEELNRSVPDEDMKDLFNEDFE
                     EKKDPESSGSATQTPLAQDINIKTEFSPAAFEQEQLGSPQVRAGSAGQTFLGPSSAPV
                     STDSPSLGGSQTLFHTSGQPRADNPSPNLMPASAQAQNAQRALAGVVLPSQGPGGASE
                     LSSAHQLQQIAAKQKREQMLQNPQQATPAPAPGQMSTWQQTGPSHSSLDVPYPMEKPA
                     SPSSYKQDFTNSKLLMMPSVNKSSPRPGGPYLQPSHVNLLSHQPPSNLNQNSANNQGS
                     VLDYGNTKPLSHYKADCGQGSPGSGQSKPALMAYLPQQLSHISHEQNSLFLMKPKPGN
                     MPFRSLVPPGQEQNPSSVPVQAQATSVGTQPPAVSVASSHNSSPYLSSQQQAAVMKQH
                     QLLLDQQKQREQQQKHLQQQQFLQRQQHLLAEQEKQQFQRHLTRPPPQYQDPTQGSFP
                     QQVGQFTGSSAAVPGMNTLGPSNSSCPRVFPQAGNLMPMGPGHASVSSLPTNSGQQDR
                     GVAQFPGSQNMPQSSLYGMASGITQIVAQPPPQATNGHAHIPRQTNVGQNTSVSAAYG
                     QNSLGSSGLSQQHNKGTLNPGLTKPPVPRVSPAMGGQNSSWQHQGMPNLSGQTPGNSN
                     VSPFTAASSFHMQQQAHLKMSSPQFSQAVPNRPMAPMSSAAAVGSLLPPVSAQQRTSA
                     PAPAPPPTAPQQGLPGLSPAGPELGAFSQSPASQMGGRAGLHCTQAYPVRTAGQELPF
                     AYSGQPGGSGLSSVAGHTDLIDSLLKNRTSEEWMSDLDDLLGSQ"
     exon            607..2022
                     /gene="MAML1"
                     /gene_synonym="Mam-1; Mam1"
                     /inference="alignment:Splign:2.1.0"
     exon            2023..2262
                     /gene="MAML1"
                     /gene_synonym="Mam-1; Mam1"
                     /inference="alignment:Splign:2.1.0"
     exon            2263..2359
                     /gene="MAML1"
                     /gene_synonym="Mam-1; Mam1"
                     /inference="alignment:Splign:2.1.0"
     exon            2360..5748
                     /gene="MAML1"
                     /gene_synonym="Mam-1; Mam1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5723..5728
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAML1"
                     /gene_synonym="Mam-1; Mam1"
                     /note="hexamer: AATAAA"
     polyA_site      5748
                     /gene="MAML1"
                     /gene_synonym="Mam-1; Mam1"
                     /note="major polyA site"
ORIGIN      
        1 gagaggcccg aaaacaattt taagatggcg gccgcggcgg tagcgcggaa aacaatgggg
       61 ccggggcggt ggggagaggc cgaggcttga ggtaggcagc aagcgccggc tgggggtcgg
      121 gccgagcggg gcaggaggaa aacccgccgc cgcgcgcgag cccgctccgc tgccctcggg
      181 ggcatggcgc ggccgtgagg cggagagggg tagccgcggg gagcgaagcc cgcagtgcca
      241 gccggccccg agaggcccgg ccccgggccc ggcccgtgca gcccgcggcc catggtgctg
      301 cccacctgcc ccatggcgga gttcgcgctg ccgcggcaca gcgcggtcat ggagcgcctt
      361 cgccggcgca tcgagctgtg ccggcgccac cacagcacct gcgaggcccg ctacgaggcc
      421 gtgtcgcccg agcgcctgga gctggagcgc caacacacct tcgccctgca ccagcgctgc
      481 atccaggcca aggccaagcg cgccgggaag cacaggcagc cgcccgccgc cacggccccg
      541 gcgcccgccg ccccggcccc gcgcctggac gccgctgacg gccccgagca cggccgcccg
      601 gccacgcatc ttcatgatac agttaagagg aatcttgaca gcgccacttc ccctcagaat
      661 ggcgatcaac agaatggcta cggggacctc tttcctgggc ataagaagac tcgccgggag
      721 gcccctctgg gagttgccat ctcttccaat ggactgcctc cagcctcccc cctcggtcag
      781 tctgacaagc cttctggagc cgacgccctg cagtccagtg ggaagcactc tctggggcta
      841 gactctctca acaaaaagcg tctggctgac tccagccttc acttgaatgg aggcagtaac
      901 cccagtgagt catttcctct gagcctgaat aaagaactga agcaggagcc tgtcgaagac
      961 ctgccttgca tgatcactgg gactgtcggc tccatatcgc aaagcaacct catgccagac
     1021 ctcaacctta acgagcagga gtggaaggag ctcatcgagg agctgaacag gtcggtgccc
     1081 gatgaagaca tgaaggacct gtttaatgag gacttcgagg agaagaagga cccagagtct
     1141 tctggctctg ccacacaaac ccccttggca caggacatta atattaagac ggaattctct
     1201 ccagcagcct ttgagcaaga acagttaggc tctccacaag tgagggccgg gtctgcaggg
     1261 cagacctttc tggggccttc ctctgcccct gtgagtacag attcccccag cctagggggc
     1321 tcccaaacct tattccacac ctctggtcag ccccgggcgg acaatcccag tccaaacctg
     1381 atgccggcat cagcccaggc ccagaacgca caaagagccc ttgcaggtgt ggtattgccc
     1441 agtcagggcc caggaggggc ctcagagctg tcctctgccc accagctcca gcagatcgct
     1501 gccaagcaga agcgcgagca gatgctccag aacccacagc aggccacccc ggcaccagcc
     1561 ccgggccaga tgtccacatg gcagcagacg gggccctccc acagttcctt agatgtccct
     1621 taccccatgg agaagcctgc cagcccttcc agctacaagc aagacttcac taactccaaa
     1681 ctgctcatga tgcctagtgt gaataagagt tcccctcggc ccggaggccc ctacctccag
     1741 cccagccatg tgaacctgct gagtcaccag ccaccgagta acttgaatca gaactccgcg
     1801 aataaccagg ggtctgtgct ggactacggc aatacaaaac ccctttctca ttacaaagcg
     1861 gactgtgggc aaggcagccc ggggtctggc cagagcaagc cagccctgat ggcttatctt
     1921 ccccagcagc tgtcccatat aagtcacgag cagaactccc tgtttctgat gaagccaaag
     1981 ccaggaaata tgcctttccg atcactggtt ccacctggcc aggagcagaa cccttccagt
     2041 gtccctgtgc aagcccaggc taccagtgtt gggacccagc cgcctgccgt gtccgtggcc
     2101 agctcccaca acagctcccc ctatctcagc agccagcaac aggccgctgt aatgaagcag
     2161 catcagttgc ttttggacca acagaaacaa agggagcagc agcaaaagca tttacagcaa
     2221 cagcagttcc ttcagaggca acagcacctt ctcgcggaac aggagaagca acagtttcag
     2281 cgccatctga cccgcccacc accccagtac caagacccga cacaaggcag cttcccacag
     2341 caggttggac agttcacagg gtcctctgct gccgtgcccg gcatgaacac cttgggtcca
     2401 tccaactcca gctgtcctcg agtgttccct caggctggga atctgatgcc aatgggccct
     2461 ggacatgctt cagtttcctc tctccccaca aactcaggcc aacaggaccg gggtgtggct
     2521 cagttccctg gctcccaaaa catgcctcag agcagcctct atggcatggc ttctggcata
     2581 acccagatag ttgcccagcc cccgccacag gccaccaatg gacatgccca cattccacgg
     2641 cagaccaacg tgggccagaa cacctccgtc tcagctgcct atgggcagaa ctctctggga
     2701 agctctggcc tctcccagca gcacaataag gggaccctga accctggttt aacaaagcca
     2761 ccggtcccaa gggtgtcacc agccatggga ggccagaatt cctcctggca gcatcaggga
     2821 atgccgaacc tcagtggcca gaccccaggg aacagcaacg tgagtccctt cactgcagcc
     2881 tccagtttcc acatgcagca gcaggcccac ctgaaaatgt ctagcccgca attctcccag
     2941 gcagtgccca acaggcccat ggctcccatg agctcagcag ctgccgtggg gtccttgcta
     3001 cccccagtga gtgcacagca gaggaccagc gcccctgccc cagcaccacc cccaacagcc
     3061 cctcagcagg gcttgcctgg cctgagccca gcagggcctg agctgggggc cttcagccag
     3121 agccctgcct cacagatggg cggtcgggcg gggctgcact gcacccaggc ctaccctgtg
     3181 cggaccgcgg gccaggagct gccttttgcc tatagcgggc agccaggtgg cagtgggctc
     3241 tctagtgtgg ctggacacac cgatctgatc gactccctgc tgaagaacag gacttcagag
     3301 gagtggatga gtgatttgga cgacctgtta gggtctcagt aatggaagga tttgtagtgt
     3361 ttttagtgtt cattcatcct atatttttat tctcagattc aaagaaagag caactacttt
     3421 ggaccaaaag cccatggcct ggggagctgg gcaggtagag cccaagctcc aggtgaggcc
     3481 tggccctggg cagggtctgt ggctgcgccc ctcaggccag cagttgaggt ccatcgggct
     3541 ggccccagcc catctgctgg catcagtacc tggtgttggg acagcaggat agggttctaa
     3601 aggtggtttt ctatccaaac gaccaaaaaa ccaacagtaa caccagtgaa accccacact
     3661 gtcgggctta taaaaatctg tgccatcatg gtgattttat ccaagactgc tccacttacc
     3721 ccagtgctgg ggacaagttt ctgttgaaac tttagatagc agaattattt gcaatttgta
     3781 gcatagaaaa gatttttaaa tttttttaca aaaggttttt aaacagatta gggtaggtga
     3841 tggtttaaat caattaagtg gcattggaaa cctagggttt ccttttgatt aagagccttt
     3901 tttgtttctg ctctttgtca gctttcaggg gagaaggagg ccactggaaa attatttccc
     3961 taagtgcagg ctgttgactg cgtatgccaa aaagggacag gaggcatggg atagcaggtc
     4021 tggtgacaca gctagggtct tcctagcagc tcctcctcct ccctcccaag gcccccagga
     4081 atcccttcct cccatgtcct ggcagcagga ccccaggcta catatggaag gtagagatgt
     4141 gggggtcctg tatcctggag tattatgtct ccccaccttc tgcagttttc tctgaacatg
     4201 tatgttgccc atggtgggag cgtggtcact gtgcagttgt gcacagatgt ctttccttta
     4261 ccgttggcct ttctgtctgc ctctccttcc tctctgcagc ccaaatggaa aacaattatt
     4321 tactccattg gagggaaagg aagagtctta gaattcctaa gggaacctta gcataaaggt
     4381 tttggggaag gaggccgtag gccggcccgg aggaagcaat tccacttggt ttgacaactt
     4441 ctgccactcc catgtcagat gacttgcact tcttaaagag attgctttat aacactaaga
     4501 catcctttct aaagattcaa gtggacttga ctaagctgag ggtccacgaa atagaatatg
     4561 acatgtgagc tgtttttgga aaacgaagat ggagagagca cttccccgta acgaaagcaa
     4621 agtggtaagc acagggtgag acccttttac acagaatggt ggagagaaaa gagaatgctg
     4681 aaaagtggct cagatgcaga gtgttctgtg gagaaactgc agccccactt ctgtttccct
     4741 ggagtctccc aatggatcat tcaggagtgt cctatgtgag aattgagcca aggaaaatac
     4801 tcatgcaacc agcctgagtc gcggtgaggg gacgagaggt tgtacacaca ttggtagtta
     4861 ttttgcacca gcagtgcctt tctcactggg ggtacttgga ccctcagatc ttcttttcta
     4921 atagccattt gccaccccaa gtggtatgtc ggccatttct ccttaaaaca ccttccctac
     4981 ctttcccatg tactcagttt agctctcaaa gaaggggtga atcataaagc cagtgaaaat
     5041 ttcaccctct gagggagttc cccaatctga aggggaagag ggtgacctca gcggcttttc
     5101 tcccaaaaat cggctgaagg ctggttgtgg atccttgttc ctctcctgac cccatctggc
     5161 tgctgccccg tctcccaccc ctgtccccgg ggctcgctgg ccctgcactc cgccttagtc
     5221 ctggggccgg cgacacagtg ggggctcctc acttgctgca gtgtcatagc aataaaatgt
     5281 gattcttggg gtccccccag ggagctgccc atggctttat ttatgaacct ggttttcggg
     5341 agtcagggga ggagatgact ttgcttctgt gcacagcccc gtcttccagg agccacaact
     5401 cagaagaaaa gggtgctcag acttttgtta tacacatttg ctttgtgtaa ataaatgttt
     5461 acaattttat atgaaagatg gaataagcgc tagagcttcc aactgtatat tttttacttt
     5521 tatagatttt aaaactatga tcctttatat gtgtgttttg ggggagctat gataagtttt
     5581 atggcaaacg gttggtattg ttaacttttt attgtcatca aaagttcata aaagtcctat
     5641 taatccccat attcttctac tgcccttaac tctggtatac accaaaaaga aatctttact
     5701 ttccttgttt tatcattata aaaataaagt attttgctag tatggaaa
//
