LOCUS       NM_078629               2286 bp    mRNA    linear   PRI 02-JUN-2024
DEFINITION  Homo sapiens MSL complex subunit 3 (MSL3), transcript variant 1,
            mRNA.
ACCESSION   NM_078629
VERSION     NM_078629.4
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 2286)
  AUTHORS   Monserrat,J., Morales Torres,C., Richardson,L., Wilson,T.S.,
            Patel,H., Domart,M.C., Horswell,S., Song,O.R., Jiang,M.,
            Crawford,M., Bui,M., Dalal,Y. and Scaffidi,P.
  TITLE     Disruption of the MSL complex inhibits tumour maintenance by
            exacerbating chromosomal instability
  JOURNAL   Nat Cell Biol 23 (4), 401-412 (2021)
   PUBMED   33837287
REFERENCE   2  (bases 1 to 2286)
  AUTHORS   Brunet,T., McWalter,K., Mayerhanser,K., Anbouba,G.M.,
            Armstrong-Javors,A., Bader,I., Baugh,E., Begtrup,A., Bupp,C.P.,
            Callewaert,B.L., Cereda,A., Cousin,M.A., Del Rey Jimenez,J.C.,
            Demmer,L., Dsouza,N.R., Fleischer,N., Gavrilova,R.H., Ghate,S.,
            Graf,E., Green,A., Green,S.R., Iascone,M., Kdissa,A., Klee,D.,
            Klee,E.W., Lancaster,E., Lindstrom,K., Mayr,J.A., McEntagart,M.,
            Meeks,N.J.L., Mittag,D., Moore,H., Olsen,A.K., Ortiz,D.,
            Parsons,G., Pena,L.D.M., Person,R.E., Punj,S., Ramos-Rivera,G.A.,
            Sacoto,M.J.G., Bradley Schaefer,G., Schnur,R.E., Scott,T.M.,
            Scott,D.A., Serbinski,C.R., Shashi,V., Siu,V.M., Stadheim,B.F.,
            Sullivan,J.A., Svantnerova,J., Velsher,L., Wargowski,D.S.,
            Wentzensen,I.M., Wieczorek,D., Winkelmann,J., Yap,P., Zech,M.,
            Zimmermann,M.T., Meitinger,T., Distelmaier,F. and Wagner,M.
  TITLE     Defining the genotypic and phenotypic spectrum of X-linked
            MSL3-related disorder
  JOURNAL   Genet Med 23 (2), 384-395 (2021)
   PUBMED   33173220
  REMARK    GeneRIF: Defining the genotypic and phenotypic spectrum of X-linked
            MSL3-related disorder.
REFERENCE   3  (bases 1 to 2286)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 2286)
  AUTHORS   Basilicata,M.F., Bruel,A.L., Semplicio,G., Valsecchi,C.I.K.,
            Aktas,T., Duffourd,Y., Rumpf,T., Morton,J., Bache,I.,
            Szymanski,W.G., Gilissen,C., Vanakker,O., Ounap,K., Mittler,G., van
            der Burgt,I., El Chehadeh,S., Cho,M.T., Pfundt,R., Tan,T.Y.,
            Kirchhoff,M., Menten,B., Vergult,S., Lindstrom,K., Reis,A.,
            Johnson,D.S., Fryer,A., McKay,V., Fisher,R.B., Thauvin-Robinet,C.,
            Francis,D., Roscioli,T., Pajusalu,S., Radtke,K., Ganesh,J.,
            Brunner,H.G., Wilson,M., Faivre,L., Kalscheuer,V.M., Thevenon,J.
            and Akhtar,A.
  CONSRTM   DDD Study
  TITLE     De novo mutations in MSL3 cause an X-linked syndrome marked by
            impaired histone H4 lysine 16 acetylation
  JOURNAL   Nat Genet 50 (10), 1442-1451 (2018)
   PUBMED   30224647
  REMARK    GeneRIF: Characterization of syndrome that allowed us to decipher
            the developmental importance of MSL3 in humans.
REFERENCE   5  (bases 1 to 2286)
  AUTHORS   Kadlec,J., Hallacli,E., Lipp,M., Holz,H., Sanchez-Weatherby,J.,
            Cusack,S. and Akhtar,A.
  TITLE     Structural basis for MOF and MSL3 recruitment into the dosage
            compensation complex by MSL1
  JOURNAL   Nat Struct Mol Biol 18 (2), 142-149 (2011)
   PUBMED   21217699
REFERENCE   6  (bases 1 to 2286)
  AUTHORS   Kim,D., Blus,B.J., Chandra,V., Huang,P., Rastinejad,F. and
            Khorasanizadeh,S.
  TITLE     Corecognition of DNA and a methylated histone tail by the MSL3
            chromodomain
  JOURNAL   Nat Struct Mol Biol 17 (8), 1027-1029 (2010)
   PUBMED   20657587
REFERENCE   7  (bases 1 to 2286)
  AUTHORS   Cai,Y., Jin,J., Swanson,S.K., Cole,M.D., Choi,S.H., Florens,L.,
            Washburn,M.P., Conaway,J.W. and Conaway,R.C.
  TITLE     Subunit composition and substrate specificity of a MOF-containing
            histone acetyltransferase distinct from the male-specific lethal
            (MSL) complex
  JOURNAL   J Biol Chem 285 (7), 4268-4272 (2010)
   PUBMED   20018852
REFERENCE   8  (bases 1 to 2286)
  AUTHORS   Smith,E.R., Cayrou,C., Huang,R., Lane,W.S., Cote,J. and
            Lucchesi,J.C.
  TITLE     A human protein complex homologous to the Drosophila MSL complex is
            responsible for the majority of histone H4 acetylation at lysine 16
  JOURNAL   Mol Cell Biol 25 (21), 9175-9188 (2005)
   PUBMED   16227571
  REMARK    GeneRIF: A multisubunit human histone acetylase complex that
            contains homologs of the Drosophila MSL proteins MOF, MSL1 (hampin
            A), MSL2, and MSL3 was described. This complex is responsible for
            histone H4 lysine-16 acetylation of all cellular chromosomes.
            Erratum:[Mol Cell Biol. 2006 Jan;26(1):387]
REFERENCE   9  (bases 1 to 2286)
  AUTHORS   Marin,I. and Baker,B.S.
  TITLE     Origin and evolution of the regulatory gene male-specific lethal-3
  JOURNAL   Mol Biol Evol 17 (8), 1240-1250 (2000)
   PUBMED   10908644
REFERENCE   10 (bases 1 to 2286)
  AUTHORS   Prakash,S.K., Van den Veyver,I.B., Franco,B., Volta,M., Ballabio,A.
            and Zoghbi,H.Y.
  TITLE     Characterization of a novel chromo domain gene in xp22.3 with
            homology to Drosophila msl-3
  JOURNAL   Genomics 59 (1), 77-84 (1999)
   PUBMED   10395802
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF117065.1, BC031210.1 and
            AC004554.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_078629.3.
            
            Summary: This gene encodes a nuclear protein that is similar to the
            product of the Drosophila male-specific lethal-3 gene. The
            Drosophila protein plays a critical role in a dosage-compensation
            pathway, which equalizes X-linked gene expression in males and
            females. Thus, the human protein is thought to play a similar
            function in chromatin remodeling and transcriptional regulation,
            and it has been found as part of a complex that is responsible for
            histone H4 lysine-16 acetylation. This gene can undergo X
            inactivation. Alternative splicing results in multiple transcript
            variants. Related pseudogenes have been identified on chromosomes
            2, 7 and 8. [provided by RefSeq, Jul 2010].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            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 :: SRR1660805.182564.1,
                                           SRR1660807.91646.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000312196.10/ ENSP00000312244.4
            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
            1-136               AF117065.1         79-214
            137-1955            BC031210.1         148-1966
            1956-2267           BC031210.1         1968-2279
            2268-2286           AC004554.1         141507-141525
FEATURES             Location/Qualifiers
     source          1..2286
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.2"
     gene            1..2286
                     /gene="MSL3"
                     /gene_synonym="MRSXBA; MRXS36; MRXSBA; MSL3L1"
                     /note="MSL complex subunit 3"
                     /db_xref="GeneID:10943"
                     /db_xref="HGNC:HGNC:7370"
                     /db_xref="MIM:300609"
     exon            1..129
                     /gene="MSL3"
                     /gene_synonym="MRSXBA; MRXS36; MRXSBA; MSL3L1"
                     /inference="alignment:Splign:2.1.0"
     CDS             28..1593
                     /gene="MSL3"
                     /gene_synonym="MRSXBA; MRXS36; MRXSBA; MSL3L1"
                     /note="isoform a is encoded by transcript variant 1;
                     MSL3-like 1; male-specific lethal-3 protein-like 1;
                     male-specific lethal 3 homolog"
                     /codon_start=1
                     /product="MSL complex subunit 3 isoform a"
                     /protein_id="NP_523353.2"
                     /db_xref="CCDS:CCDS14147.1"
                     /db_xref="GeneID:10943"
                     /db_xref="HGNC:HGNC:7370"
                     /db_xref="MIM:300609"
                     /translation="MSASEGMKFKFHSGEKVLCFEPDPTKARVLYDAKIVDVIVGKDE
                     KGRKIPEYLIHFNGWNRSWDRWAAEDHVLRDTDENRRLQRKLARKAVARLRSTGRKKK
                     RCRLPGVDSVLKGLPTEEKDENDENSLSSSSDCSENKDEEISEESDIEEKTEVKEEPE
                     LQTRREMEERTITIEIPEVLKKQLEDDCYYINRRKRLVKLPCQTNIITILESYVKHFA
                     INAAFSANERPRHHHVMPHANMNVHYIPAEKNVDLCKEMVDGLRITFDYTLPLVLLYP
                     YEQAQYKKVTSSKFFLPIKESATSTNRSQEELSPSPPLLNPSTPQSTESQPTTGEPAT
                     PKRRKAEPEALQSLRRSTRHSANCDRLSESSASPQPKRRQQDTSASMPKLFLHLEKKT
                     PVHSRSSSPIPLTPSKEGSAVFAGFEGRRTNEINEVLSWKLVPDNYPPGDQPPPPSYI
                     YGAQHLLRLFVKLPEILGKMSFSEKNLKALLKHFDLFLRFLAEYHDDFFPESAYVAAC
                     EAHYSTKNPRAIY"
     exon            130..212
                     /gene="MSL3"
                     /gene_synonym="MRSXBA; MRXS36; MRXSBA; MSL3L1"
                     /inference="alignment:Splign:2.1.0"
     exon            213..308
                     /gene="MSL3"
                     /gene_synonym="MRSXBA; MRXS36; MRXSBA; MSL3L1"
                     /inference="alignment:Splign:2.1.0"
     exon            309..409
                     /gene="MSL3"
                     /gene_synonym="MRSXBA; MRXS36; MRXSBA; MSL3L1"
                     /inference="alignment:Splign:2.1.0"
     exon            410..492
                     /gene="MSL3"
                     /gene_synonym="MRSXBA; MRXS36; MRXSBA; MSL3L1"
                     /inference="alignment:Splign:2.1.0"
     exon            493..615
                     /gene="MSL3"
                     /gene_synonym="MRSXBA; MRXS36; MRXSBA; MSL3L1"
                     /inference="alignment:Splign:2.1.0"
     exon            616..776
                     /gene="MSL3"
                     /gene_synonym="MRSXBA; MRXS36; MRXSBA; MSL3L1"
                     /inference="alignment:Splign:2.1.0"
     exon            777..935
                     /gene="MSL3"
                     /gene_synonym="MRSXBA; MRXS36; MRXSBA; MSL3L1"
                     /inference="alignment:Splign:2.1.0"
     exon            936..1198
                     /gene="MSL3"
                     /gene_synonym="MRSXBA; MRXS36; MRXSBA; MSL3L1"
                     /inference="alignment:Splign:2.1.0"
     exon            1199..1308
                     /gene="MSL3"
                     /gene_synonym="MRSXBA; MRXS36; MRXSBA; MSL3L1"
                     /inference="alignment:Splign:2.1.0"
     exon            1309..1408
                     /gene="MSL3"
                     /gene_synonym="MRSXBA; MRXS36; MRXSBA; MSL3L1"
                     /inference="alignment:Splign:2.1.0"
     exon            1409..1493
                     /gene="MSL3"
                     /gene_synonym="MRSXBA; MRXS36; MRXSBA; MSL3L1"
                     /inference="alignment:Splign:2.1.0"
     exon            1494..2286
                     /gene="MSL3"
                     /gene_synonym="MRSXBA; MRXS36; MRXSBA; MSL3L1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2242..2247
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MSL3"
                     /gene_synonym="MRSXBA; MRXS36; MRXSBA; MSL3L1"
                     /note="hexamer: AATAAA"
     polyA_site      2267
                     /gene="MSL3"
                     /gene_synonym="MRSXBA; MRXS36; MRXSBA; MSL3L1"
                     /note="major polyA site"
ORIGIN      
        1 agcctcgccc tccgccacga tgagcaaatg agcgcgagcg agggcatgaa atttaaattc
       61 cactcagggg agaaagtgct gtgcttcgag cctgacccca ccaaggcgcg agtgctgtac
      121 gatgccaaga ttgttgatgt tattgttggg aaagacgaaa aaggcagaaa gatcccagaa
      181 tatctgatcc attttaatgg ttggaacaga agctgggata gatgggcagc agaagatcat
      241 gtgcttcgtg ataccgatga aaatcgtaga ttacagcgta aattggcaag aaaagctgta
      301 gctcgcctga ggagcacagg aagaaagaag aagcgctgca ggttgcctgg tgtggactct
      361 gtcttaaaag gcctccccac tgaagaaaaa gatgaaaatg atgaaaactc attaagcagt
      421 tcctctgact gtagtgaaaa caaggatgaa gaaataagtg aagaaagtga tattgaagaa
      481 aagactgaag tgaaagaaga accagagctt caaacaagaa gggaaatgga agaaagaaca
      541 ataactatag aaatccctga agttctgaag aagcagctgg aggatgattg ttactacatt
      601 aacaggagga aacggttagt gaaacttcca tgccagacca acatcataac gattttggaa
      661 tcctatgtga agcattttgc tatcaatgca gccttttcag ccaatgagag gcctcgtcac
      721 catcacgtta tgccacatgc caacatgaac gtgcattata tcccagcaga aaagaatgtt
      781 gacctttgta aggagatggt ggatggatta agaataacct ttgattacac tctcccgttg
      841 gttttactct atccatatga acaagctcag tataaaaagg tgacttcgtc taaatttttt
      901 cttccaatta aggaaagtgc cacaagcact aacaggagcc aggaggaact ctctcccagt
      961 ccgcctttgt tgaatccatc cacgccacag tccacagaga gtcagccgac caccggtgaa
     1021 ccagccaccc ccaaaaggcg caaagctgag ccagaagcat tgcagtctct gaggcggtcc
     1081 acgcgccaca gtgccaactg tgacaggctt tctgagagca gcgcttcacc tcagcccaag
     1141 cgccggcagc aggacacatc cgccagcatg cccaagctct tcctgcacct ggaaaagaag
     1201 acacctgtgc atagcagatc atcttcacct attcctctga ctcctagcaa ggaagggagt
     1261 gctgtgtttg ctggctttga agggagaaga actaatgaaa taaacgaggt cctctcctgg
     1321 aagcttgtgc ctgacaatta ccccccaggt gaccagccgc ctccaccctc ttacatttat
     1381 ggggcacaac atttgctgcg attgtttgtg aaacttccag aaatccttgg aaagatgtcc
     1441 ttttctgaga agaatctgaa ggctttattg aagcactttg atctcttttt gaggttttta
     1501 gcagaatacc acgatgactt cttcccagag tcggcttatg tcgctgcctg tgaggcacat
     1561 tacagcacca agaacccccg ggcaatttat taaaatgttg ttggttctgt aagagcaact
     1621 gctctgtcta gtttggcgct ctgggttcca ggtgaataac taacaaggtg gtgggtcttt
     1681 acccacagcg caaacacaat gcccaccttg gggctctgtt gtttgagttg cccacatact
     1741 gcagttattc tgttaggaat gattccctgg gtgcctgaaa gtgctctgac acgacacttg
     1801 ttactttgca ggccatctgt gatggcaagg aaaaagcaac tatgttcaca gtgaaatatt
     1861 cgtggaatag gttaggccat ttcagtagac attgcagtta gttagcaaga accacattgt
     1921 ctctttattt gttagcatta aacaaatttt tttttgcaaa ttggttttat ttttttgatg
     1981 aagccgagca actctgtcca aaaaggttta gtttgtactc ggaaaccaca aagtagtctc
     2041 aaagtatttt agagggaatc gatattgatg gcaaaagaaa atttgcagct atgcatttgc
     2101 ttctaacggt tccctctctg tgaaacatta tttttggtga tctaaagaaa gcattgcctt
     2161 tcttatttga gattttacag ctatactttg ttgtgtaatg ttatggttcc ctttctgtaa
     2221 aatgttattt ttggtgatct aaataaagcc tgtcttgttt gaaagaacca ggagagagag
     2281 ttttca
//
