LOCUS       NM_001393532             893 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens methyl-CpG binding domain protein 3 like 1 (MBD3L1),
            transcript variant 2, mRNA.
ACCESSION   NM_001393532
VERSION     NM_001393532.1
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 893)
  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   2  (bases 1 to 893)
  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 893)
  AUTHORS   Campbell,A.E., Shadle,S.C., Jagannathan,S., Lim,J.W., Resnick,R.,
            Tawil,R., van der Maarel,S.M. and Tapscott,S.J.
  TITLE     NuRD and CAF-1-mediated silencing of the D4Z4 array is modulated by
            DUX4-induced MBD3L proteins
  JOURNAL   Elife 7, e31023 (2018)
   PUBMED   29533181
  REMARK    GeneRIF: These and other approaches identified the Nucleosome
            Remodeling Deacetylase (NuRD) and Chromatin Assembly Factor 1
            (CAF-1) complexes as necessary for DUX4 repression in human
            skeletal muscle cells and induced pluripotent stem (iPS)
            cells.Furthermore, DUX4-induced expression of MBD3L proteins partly
            relieved this repression in FSHD muscle cells.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 893)
  AUTHORS   Carmona-Mora,P., Widagdo,J., Tomasetig,F., Canales,C.P., Cha,Y.,
            Lee,W., Alshawaf,A., Dottori,M., Whan,R.M., Hardeman,E.C. and
            Palmer,S.J.
  TITLE     The nuclear localization pattern and interaction partners of
            GTF2IRD1 demonstrate a role in chromatin regulation
  JOURNAL   Hum Genet 134 (10), 1099-1115 (2015)
   PUBMED   26275350
REFERENCE   5  (bases 1 to 893)
  AUTHORS   Walavalkar,N.M., Gordon,N. and Williams,D.C. Jr.
  TITLE     Unique features of the anti-parallel, heterodimeric coiled-coil
            interaction between methyl-cytosine binding domain 2 (MBD2)
            homologues and GATA zinc finger domain containing 2A
            (GATAD2A/p66alpha)
  JOURNAL   J Biol Chem 288 (5), 3419-3427 (2013)
   PUBMED   23239876
  REMARK    GeneRIF: These factors lead to a binding affinity hierarchy of
            p66alpha for the different MBD2 homologues (MBD2 approximately MBD3
            > MBD3L1 approximately MBD3L2).
REFERENCE   6  (bases 1 to 893)
  AUTHORS   Jiang,C.L., Jin,S.G. and Pfeifer,G.P.
  TITLE     MBD3L1 is a transcriptional repressor that interacts with
            methyl-CpG-binding protein 2 (MBD2) and components of the NuRD
            complex
  JOURNAL   J Biol Chem 279 (50), 52456-52464 (2004)
   PUBMED   15456747
  REMARK    GeneRIF: interacts with methyl-CpG-binding protein 2 (MBD2) and
            components of the NuRD complex
REFERENCE   7  (bases 1 to 893)
  AUTHORS   Yao,Y.L. and Yang,W.M.
  TITLE     The metastasis-associated proteins 1 and 2 form distinct protein
            complexes with histone deacetylase activity
  JOURNAL   J Biol Chem 278 (43), 42560-42568 (2003)
   PUBMED   12920132
REFERENCE   8  (bases 1 to 893)
  AUTHORS   Jiang,C.L., Jin,S.G., Lee,D.H., Lan,Z.J., Xu,X., O'Connor,T.R.,
            Szabo,P.E., Mann,J.R., Cooney,A.J. and Pfeifer,G.P.
  TITLE     MBD3L1 and MBD3L2, two new proteins homologous to the
            methyl-CpG-binding proteins MBD2 and MBD3: characterization of
            MBD3L1 as a testis-specific transcriptional repressor
  JOURNAL   Genomics 80 (6), 621-629 (2002)
   PUBMED   12504854
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008734.7.
            
            Summary: This gene encodes a protein that is related to
            methyl-CpG-binding proteins but lacks the methyl-CpG binding
            domain. The protein is localized to discrete areas in the nucleus,
            and expression appears to be restricted to round spermatids,
            suggesting that the protein plays a role in the postmeiotic stages
            of male germ cell development. [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: DB445947.2, DB448734.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2151119, SAMEA2158188
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000595891.2/ ENSP00000471575.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-146               AC008734.7         44965-45110
            147-231             AC008734.7         53503-53587
            232-893             AC008734.7         55246-55907
FEATURES             Location/Qualifiers
     source          1..893
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     gene            1..893
                     /gene="MBD3L1"
                     /gene_synonym="MBD3L"
                     /note="methyl-CpG binding domain protein 3 like 1"
                     /db_xref="GeneID:85509"
                     /db_xref="HGNC:HGNC:15774"
                     /db_xref="MIM:607963"
     exon            1..146
                     /gene="MBD3L1"
                     /gene_synonym="MBD3L"
                     /inference="alignment:Splign:2.1.0"
     exon            147..231
                     /gene="MBD3L1"
                     /gene_synonym="MBD3L"
                     /inference="alignment:Splign:2.1.0"
     exon            232..893
                     /gene="MBD3L1"
                     /gene_synonym="MBD3L"
                     /inference="alignment:Splign:2.1.0"
     CDS             253..837
                     /gene="MBD3L1"
                     /gene_synonym="MBD3L"
                     /note="MBD3-like protein 1"
                     /codon_start=1
                     /product="methyl-CpG-binding domain protein 3-like 1"
                     /protein_id="NP_001380461.1"
                     /db_xref="CCDS:CCDS12209.1"
                     /db_xref="GeneID:85509"
                     /db_xref="HGNC:HGNC:15774"
                     /db_xref="MIM:607963"
                     /translation="MAKSSQRKQRDCVNQCKSKPGLSTSIPLRMSSYTFKRPVTRITP
                     HPGNEVRYHQWEESLEKPQQVCWQRRLQGLQAYSSAGELSSTLDLANTLQKLVPSYTG
                     GSLLEDLASGLEHSCPMPHLACSSDAVEIIPAEGVGISQLLCKQFLVTEEDIRKQEGK
                     VKTVRERLAIALIADGLANEAEKVRDQEGRPEKR"
     regulatory      865..870
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MBD3L1"
                     /gene_synonym="MBD3L"
                     /note="hexamer: AATAAA"
     polyA_site      889
                     /gene="MBD3L1"
                     /gene_synonym="MBD3L"
                     /note="major polyA site"
ORIGIN      
        1 gcagagtcga gcgtgttggg ggttcggcgc ttaggcgaca ggcgcggcgg gcgggagcgg
       61 cggccgcgaa ccccagcctt gggcagaggt gttctagttt gcttagtggg cacaaagttg
      121 ggccctggcc tggggcagta gcggggtgat catatgacgg tggtagccat ggcgtcacag
      181 agaacaggga ccttccaagt ttgaagtttt acaaggcagg tgtgataagt gtgtaagagg
      241 aaaagaagtg tgatggccaa gagttcacag aggaagcaac gtgactgtgt aaaccaatgc
      301 aaatcaaagc ctggcttgag cacctcaatc cctttgagaa tgtccagtta cacattcaag
      361 aggccagtaa cgagaattac accccatcct ggcaatgagg tcagatacca tcaatgggag
      421 gagagcttgg agaagcctca gcaggtctgc tggcagagga gactgcaggg actccaggct
      481 tacagcagtg caggagaact ttcaagcact ttggatcttg ccaatacctt gcaaaaactt
      541 gtccctagtt acacaggtgg atctctgctg gaggatcttg ccagtggtct ggagcactcc
      601 tgccccatgc cccaccttgc ctgctcttca gatgcggtgg agataattcc tgcagaggga
      661 gtgggtatct cgcagctcct ctgcaaacaa tttctggtta ctgaggaaga tatcaggaaa
      721 caggaaggga aagtgaagac agtcagagag agactcgcaa tagcactgat tgcggatgga
      781 ctcgctaatg aggcagagaa agtgagagac caagaaggcc gtcctgaaaa acgctaagaa
      841 aaaaagggaa gatagtgcag atgaaataaa gtgtaatcct ttattaacat ctc
//
