LOCUS       NM_001001683             836 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens mediator complex subunit 11 (MED11), transcript
            variant 1, mRNA.
ACCESSION   NM_001001683 XM_375392
VERSION     NM_001001683.4
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 836)
  AUTHORS   Cali,E., Lin,S.J., Rocca,C., Sahin,Y., Al Shamsi,A., El
            Chehadeh,S., Chaabouni,M., Mankad,K., Galanaki,E., Efthymiou,S.,
            Sudhakar,S., Athanasiou-Fragkouli,A., Celik,T., Narli,N.,
            Bianca,S., Murphy,D., De Carvalho Moreira,F.M., Andrea,Accogli.,
            Petree,C., Huang,K., Monastiri,K., Edizadeh,M., Nardello,R.,
            Ognibene,M., De Marco,P., Ruggieri,M., Zara,F., Striano,P.,
            Sahin,Y., Al-Gazali,L., Abi Warde,M.T., Gerard,B., Zifarelli,G.,
            Beetz,C., Fortuna,S., Soler,M., Valente,E.M., Varshney,G.,
            Maroofian,R., Salpietro,V. and Houlden,H.
  CONSRTM   SYNaPS Study Group
  TITLE     A homozygous MED11 C-terminal variant causes a lethal
            neurodegenerative disease
  JOURNAL   Genet Med 24 (10), 2194-2203 (2022)
   PUBMED   36001086
  REMARK    GeneRIF: A homozygous MED11 C-terminal variant causes a lethal
            neurodegenerative disease.
REFERENCE   2  (bases 1 to 836)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   3  (bases 1 to 836)
  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   4  (bases 1 to 836)
  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   5  (bases 1 to 836)
  AUTHORS   Fasci,D., van Ingen,H., Scheltema,R.A. and Heck,A.J.R.
  TITLE     Histone Interaction Landscapes Visualized by Crosslinking Mass
            Spectrometry in Intact Cell Nuclei
  JOURNAL   Mol Cell Proteomics 17 (10), 2018-2033 (2018)
   PUBMED   30021884
REFERENCE   6  (bases 1 to 836)
  AUTHORS   Tsai,K.L., Tomomori-Sato,C., Sato,S., Conaway,R.C., Conaway,J.W.
            and Asturias,F.J.
  TITLE     Subunit architecture and functional modular rearrangements of the
            transcriptional mediator complex
  JOURNAL   Cell 157 (6), 1430-1444 (2014)
   PUBMED   24882805
  REMARK    Erratum:[Cell. 2014 Jul 17;158(2):463]
REFERENCE   7  (bases 1 to 836)
  AUTHORS   Sato,S., Tomomori-Sato,C., Parmely,T.J., Florens,L., Zybailov,B.,
            Swanson,S.K., Banks,C.A., Jin,J., Cai,Y., Washburn,M.P.,
            Conaway,J.W. and Conaway,R.C.
  TITLE     A set of consensus mammalian mediator subunits identified by
            multidimensional protein identification technology
  JOURNAL   Mol Cell 14 (5), 685-691 (2004)
   PUBMED   15175163
REFERENCE   8  (bases 1 to 836)
  AUTHORS   Tomomori-Sato,C., Sato,S., Parmely,T.J., Banks,C.A., Sorokina,I.,
            Florens,L., Zybailov,B., Washburn,M.P., Brower,C.S., Conaway,R.C.
            and Conaway,J.W.
  TITLE     A mammalian mediator subunit that shares properties with
            Saccharomyces cerevisiae mediator subunit Cse2
  JOURNAL   J Biol Chem 279 (7), 5846-5851 (2004)
   PUBMED   14638676
REFERENCE   9  (bases 1 to 836)
  AUTHORS   Sato,S., Tomomori-Sato,C., Banks,C.A., Sorokina,I., Parmely,T.J.,
            Kong,S.E., Jin,J., Cai,Y., Lane,W.S., Brower,C.S., Conaway,R.C. and
            Conaway,J.W.
  TITLE     Identification of mammalian Mediator subunits with similarities to
            yeast Mediator subunits Srb5, Srb6, Med11, and Rox3
  JOURNAL   J Biol Chem 278 (17), 15123-15127 (2003)
   PUBMED   12584197
REFERENCE   10 (bases 1 to 836)
  AUTHORS   Mittler,G., Kremmer,E., Timmers,H.T. and Meisterernst,M.
  TITLE     Novel critical role of a human Mediator complex for basal RNA
            polymerase II transcription
  JOURNAL   EMBO Rep 2 (9), 808-813 (2001)
   PUBMED   11559591
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC091153.10.
            
            On Nov 22, 2018 this sequence version replaced NM_001001683.3.
            
            Summary: MED11 is a component of the Mediator complex, which is a
            coactivator for DNA-binding factors that activate transcription via
            RNA polymerase II (Sato et al., 2003 [PubMed 12584197]).[supplied
            by OMIM, Oct 2008].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC070377.1, SRR1803616.146311.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000293777.6/ ENSP00000293777.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-147               AC091153.10        50460-50606         c
            148-278             AC091153.10        50128-50258         c
            279-836             AC091153.10        48427-48984         c
FEATURES             Location/Qualifiers
     source          1..836
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.2"
     gene            1..836
                     /gene="MED11"
                     /gene_synonym="HSPC296; NDDRSB"
                     /note="mediator complex subunit 11"
                     /db_xref="GeneID:400569"
                     /db_xref="HGNC:HGNC:32687"
                     /db_xref="MIM:612383"
     exon            1..147
                     /gene="MED11"
                     /gene_synonym="HSPC296; NDDRSB"
                     /inference="alignment:Splign:2.1.0"
     CDS             63..416
                     /gene="MED11"
                     /gene_synonym="HSPC296; NDDRSB"
                     /note="isoform a is encoded by transcript variant 1;
                     mediator of RNA polymerase II transcription subunit 11;
                     mediator of RNA polymerase II transcription, subunit 11
                     homolog"
                     /codon_start=1
                     /product="mediator of RNA polymerase II transcription
                     subunit 11 isoform a"
                     /protein_id="NP_001001683.1"
                     /db_xref="CCDS:CCDS32533.1"
                     /db_xref="GeneID:400569"
                     /db_xref="HGNC:HGNC:32687"
                     /db_xref="MIM:612383"
                     /translation="MATYSLANERLRALEDIEREIGAILQNAGTVILELSKEKTNERL
                     LDRQAAAFTASVQHVEAELSAQIRYLTQVATGQPHEGSSYSSRKDCQMALKRVDYARL
                     KLSDVARTCEQMLEN"
     exon            148..278
                     /gene="MED11"
                     /gene_synonym="HSPC296; NDDRSB"
                     /inference="alignment:Splign:2.1.0"
     exon            279..836
                     /gene="MED11"
                     /gene_synonym="HSPC296; NDDRSB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      814..819
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MED11"
                     /gene_synonym="HSPC296; NDDRSB"
                     /note="hexamer: AATAAA"
     polyA_site      836
                     /gene="MED11"
                     /gene_synonym="HSPC296; NDDRSB"
                     /note="major polyA site"
ORIGIN      
        1 acttccggaa caagcgtcgc gtttctgagg agaaactctt ggtgagaatt cccagagtga
       61 taatggctac ctacagcctg gcgaacgaga gactacgcgc tctggaagac attgaacggg
      121 aaatcggcgc catccttcag aatgcaggta ctgtgatcct agaattgtcc aaggaaaaaa
      181 ctaacgagcg gctcctagac cggcaggcgg cggccttcac cgcttcagtg caacacgtgg
      241 aggcggagct gtcagctcag atccgctacc tcacccaggt ggccacaggg cagccccatg
      301 agggctccag ctactcttcg aggaaggact gtcagatggc tctgaagcga gtggactatg
      361 cccgcctcaa gctcagtgat gtggctcgaa cctgtgagca gatgctggag aactaggcca
      421 gggagatgga cccagagctg agagggagac catcacctgt gccatgggac agaacctggg
      481 aacatgtagg gtggggagta tgagcaccaa cataccctgc tggtcaaagt accctaggac
      541 aaaggggcaa atggtgggca tggaaaaact gaagcccgag cctgcccaca gctatgcttt
      601 ggcctctcca gcagggtgct cctgctctgc actccagaaa caccctgaca ggctcagaga
      661 ggagatggaa actgacatac ccaacccact tcctcaaaca cttcatgctg ctgccccagc
      721 cttcccgcag acttggccta atgaaaatac atacttcttc attcggagag acaaaacaag
      781 aactagagtt ttaatgataa taaaagcaat aataataaaa gcaataacaa taaaaa
//
