LOCUS       NM_138610               1917 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens macroH2A.1 histone (MACROH2A1), transcript variant 3,
            mRNA.
ACCESSION   NM_138610
VERSION     NM_138610.3
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 1917)
  AUTHORS   Nagarajan,D., Parracho,R.T., Corujo,D., Xie,M., Kutkaite,G.,
            Olsen,T.K., Rubies Bedos,M., Salehi,M., Baryawno,N., Menden,M.P.,
            Chen,X., Buschbeck,M. and Mao,Y.
  TITLE     Epigenetic regulation of cell state by H2AFY governs immunogenicity
            in high-risk neuroblastoma
  JOURNAL   J Clin Invest 134 (21), e175310 (2024)
   PUBMED   39255035
  REMARK    GeneRIF: Epigenetic regulation of cell state by H2AFY governs
            immunogenicity in high-risk neuroblastoma.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1917)
  AUTHORS   Haase,M.A.B., Lazar-Stefanita,L., Olafsson,G., Wudzinska,A.,
            Shen,M.J., Truong,D.M. and Boeke,J.D.
  TITLE     macroH2A1 drives nucleosome dephasing and genome instability in
            histone humanized yeast
  JOURNAL   Cell Rep 43 (7), 114472 (2024)
   PUBMED   38990716
  REMARK    GeneRIF: macroH2A1 drives nucleosome dephasing and genome
            instability in histone humanized yeast.
REFERENCE   3  (bases 1 to 1917)
  AUTHORS   Giallongo,C., Dulcamare,I., Giallongo,S., Duminuco,A.,
            Pieragostino,D., Cufaro,M.C., Amorini,A.M., Lazzarino,G.,
            Romano,A., Parrinello,N., Di Rosa,M., Broggi,G., Caltabiano,R.,
            Caraglia,M., Scrima,M., Pasquale,L.S., Tathode,M.S., Li Volti,G.,
            Motterlini,R., Di Raimondo,F., Tibullo,D. and Palumbo,G.A.
  TITLE     MacroH2A1.1 as a crossroad between epigenetics, inflammation and
            metabolism of mesenchymal stromal cells in myelodysplastic
            syndromes
  JOURNAL   Cell Death Dis 14 (10), 686 (2023)
   PUBMED   37852977
  REMARK    GeneRIF: MacroH2A1.1 as a crossroad between epigenetics,
            inflammation and metabolism of mesenchymal stromal cells in
            myelodysplastic syndromes.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1917)
  AUTHORS   Seal,R.L., Denny,P., Bruford,E.A., Gribkova,A.K., Landsman,D.,
            Marzluff,W.F., McAndrews,M., Panchenko,A.R., Shaytan,A.K. and
            Talbert,P.B.
  TITLE     A standardized nomenclature for mammalian histone genes
  JOURNAL   Epigenetics Chromatin 15 (1), 34 (2022)
   PUBMED   36180920
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1917)
  AUTHORS   Giallongo,S., Rehakova,D., Biagini,T., Lo Re,O., Raina,P.,
            Lochmanova,G., Zdrahal,Z., Resnick,I., Pata,P., Pata,I.,
            Mistrik,M., de Magalhaes,J.P., Mazza,T., Koutna,I. and
            Vinciguerra,M.
  TITLE     Histone Variant macroH2A1.1 Enhances Nonhomologous End
            Joining-dependent DNA Double-strand-break Repair and Reprogramming
            Efficiency of Human iPSCs
  JOURNAL   Stem Cells 40 (1), 35-48 (2022)
   PUBMED   35511867
  REMARK    GeneRIF: Histone Variant macroH2A1.1 Enhances Nonhomologous End
            Joining-dependent DNA Double-strand-break Repair and Reprogramming
            Efficiency of Human iPSCs.
REFERENCE   6  (bases 1 to 1917)
  AUTHORS   Shaytan,A.K., Landsman,D. and Panchenko,A.R.
  TITLE     Nucleosome adaptability conferred by sequence and structural
            variations in histone H2A-H2B dimers
  JOURNAL   Curr Opin Struct Biol 32, 48-57 (2015)
   PUBMED   25731851
  REMARK    Review article
REFERENCE   7  (bases 1 to 1917)
  AUTHORS   Lee,Y., Hong,M., Kim,J.W., Hong,Y.M., Choe,Y.K., Chang,S.Y.,
            Lee,K.S. and Choe,I.S.
  TITLE     Isolation of cDNA clones encoding human histone macroH2A1 subtypes
  JOURNAL   Biochim Biophys Acta 1399 (1), 73-77 (1998)
   PUBMED   9714746
REFERENCE   8  (bases 1 to 1917)
  AUTHORS   Mao,M., Fu,G., Wu,J.S., Zhang,Q.H., Zhou,J., Kan,L.X., Huang,Q.H.,
            He,K.L., Gu,B.W., Han,Z.G., Shen,Y., Gu,J., Yu,Y.P., Xu,S.H.,
            Wang,Y.X., Chen,S.J. and Chen,Z.
  TITLE     Identification of genes expressed in human CD34(+) hematopoietic
            stem/progenitor cells by expressed sequence tags and efficient
            full-length cDNA cloning
  JOURNAL   Proc Natl Acad Sci U S A 95 (14), 8175-8180 (1998)
   PUBMED   9653160
REFERENCE   9  (bases 1 to 1917)
  AUTHORS   Costanzi,C. and Pehrson,J.R.
  TITLE     Histone macroH2A1 is concentrated in the inactive X chromosome of
            female mammals
  JOURNAL   Nature 393 (6685), 599-601 (1998)
   PUBMED   9634239
REFERENCE   10 (bases 1 to 1917)
  AUTHORS   El Kharroubi,A., Piras,G., Zensen,R. and Martin,M.A.
  TITLE     Transcriptional activation of the integrated chromatin-associated
            human immunodeficiency virus type 1 promoter
  JOURNAL   Mol Cell Biol 18 (5), 2535-2544 (1998)
   PUBMED   9566873
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC026691.5 and AF041483.1.
            
            On May 14, 2020 this sequence version replaced NM_138610.2.
            
            Summary: Histones are basic nuclear proteins that are responsible
            for the nucleosome structure of the chromosomal fiber in
            eukaryotes. Nucleosomes consist of approximately 146 bp of DNA
            wrapped around a histone octamer composed of pairs of each of the
            four core histones (H2A, H2B, H3, and H4). The chromatin fiber is
            further compacted through the interaction of a linker histone, H1,
            with the DNA between the nucleosomes to form higher order chromatin
            structures. This gene encodes a replication-independent histone
            that is a member of the histone H2A family. It replaces
            conventional H2A histones in a subset of nucleosomes where it
            represses transcription and participates in stable X chromosome
            inactivation. Alternative splicing results in multiple transcript
            variants encoding different isoforms. [provided by RefSeq, Oct
            2015].
            
            Transcript Variant: This variant (3) is the longest transcript and
            encodes the longest isoform (3). Isoform 3, also known as
            macroH2A1.2, differs from isoform 2 by a single amino acid.
            
            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 :: AK023409.1, BC095406.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match              :: ENST00000511689.6/
                                               ENSP00000423563.1
            RefSeq Select criteria          :: based on manual assertion,
                                               conservation, longest protein
            replication-independent histone :: PMID: 25731851
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-109               AC026691.5         123981-124089       c
            110-241             AF041483.1         14-145
            242-242             AC026691.5         113913-113913       c
            243-876             AF041483.1         147-780
            877-877             AC026691.5         77818-77818         c
            878-938             AF041483.1         782-842
            939-939             AC026691.5         70868-70868         c
            940-1354            AF041483.1         844-1258
            1355-1917           AC026691.5         59239-59801         c
FEATURES             Location/Qualifiers
     source          1..1917
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.1"
     gene            1..1917
                     /gene="MACROH2A1"
                     /gene_synonym="H2A.y; H2A/y; H2AF12M; H2AFY; MACROH2A1.1;
                     macroH2A1.2; mH2A1"
                     /note="macroH2A.1 histone"
                     /db_xref="GeneID:9555"
                     /db_xref="HGNC:HGNC:4740"
                     /db_xref="MIM:610054"
     exon            1..170
                     /gene="MACROH2A1"
                     /gene_synonym="H2A.y; H2A/y; H2AF12M; H2AFY; MACROH2A1.1;
                     macroH2A1.2; mH2A1"
                     /inference="alignment:Splign:2.1.0"
     exon            171..375
                     /gene="MACROH2A1"
                     /gene_synonym="H2A.y; H2A/y; H2AF12M; H2AFY; MACROH2A1.1;
                     macroH2A1.2; mH2A1"
                     /inference="alignment:Splign:2.1.0"
     CDS             204..1322
                     /gene="MACROH2A1"
                     /gene_synonym="H2A.y; H2A/y; H2AF12M; H2AFY; MACROH2A1.1;
                     macroH2A1.2; mH2A1"
                     /note="isoform 3 is encoded by transcript variant 3;
                     histone macroH2A1.2; histone macroH2A1.1; core histone
                     macro-H2A.1; histone H2A.y; medulloblastoma antigen
                     MU-MB-50.205; H2A histone family member Y"
                     /codon_start=1
                     /product="core histone macro-H2A.1 isoform 3"
                     /protein_id="NP_613258.2"
                     /db_xref="CCDS:CCDS4185.1"
                     /db_xref="GeneID:9555"
                     /db_xref="HGNC:HGNC:4740"
                     /db_xref="MIM:610054"
                     /translation="MSSRGGKKKSTKTSRSAKAGVIFPVGRMLRYIKKGHPKYRIGVG
                     APVYMAAVLEYLTAEILELAGNAARDNKKGRVTPRHILLAVANDEELNQLLKGVTIAS
                     GGVLPNIHPELLAKKRGSKGKLEAIITPPPAKKAKSPSQKKPVSKKAGGKKGARKSKK
                     KQGEVSKAASADSTTEGTPADGFTVLSTKSLFLGQKLNLIHSEISNLAGFEVEAIINP
                     TNADIDLKDDLGNTLEKKGGKEFVEAVLELRKKNGPLEVAGAAVSAGHGLPAKFVIHC
                     NSPVWGADKCEELLEKTVKNCLALADDKKLKSIAFPSIGSGRNGFPKQTAAQLILKAI
                     SSYFVSTMSSSIKTVYFVLFDSESIGIYVQEMAKLDAN"
     exon            376..482
                     /gene="MACROH2A1"
                     /gene_synonym="H2A.y; H2A/y; H2AF12M; H2AFY; MACROH2A1.1;
                     macroH2A1.2; mH2A1"
                     /inference="alignment:Splign:2.1.0"
     exon            483..680
                     /gene="MACROH2A1"
                     /gene_synonym="H2A.y; H2A/y; H2AF12M; H2AFY; MACROH2A1.1;
                     macroH2A1.2; mH2A1"
                     /inference="alignment:Splign:2.1.0"
     exon            681..791
                     /gene="MACROH2A1"
                     /gene_synonym="H2A.y; H2A/y; H2AF12M; H2AFY; MACROH2A1.1;
                     macroH2A1.2; mH2A1"
                     /inference="alignment:Splign:2.1.0"
     exon            792..891
                     /gene="MACROH2A1"
                     /gene_synonym="H2A.y; H2A/y; H2AF12M; H2AFY; MACROH2A1.1;
                     macroH2A1.2; mH2A1"
                     /inference="alignment:Splign:2.1.0"
     exon            892..981
                     /gene="MACROH2A1"
                     /gene_synonym="H2A.y; H2A/y; H2AF12M; H2AFY; MACROH2A1.1;
                     macroH2A1.2; mH2A1"
                     /inference="alignment:Splign:2.1.0"
     exon            982..1156
                     /gene="MACROH2A1"
                     /gene_synonym="H2A.y; H2A/y; H2AF12M; H2AFY; MACROH2A1.1;
                     macroH2A1.2; mH2A1"
                     /inference="alignment:Splign:2.1.0"
     exon            1157..1917
                     /gene="MACROH2A1"
                     /gene_synonym="H2A.y; H2A/y; H2AF12M; H2AFY; MACROH2A1.1;
                     macroH2A1.2; mH2A1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1899..1904
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MACROH2A1"
                     /gene_synonym="H2A.y; H2A/y; H2AF12M; H2AFY; MACROH2A1.1;
                     macroH2A1.2; mH2A1"
                     /note="hexamer: AGTAAA"
     polyA_site      1917
                     /gene="MACROH2A1"
                     /gene_synonym="H2A.y; H2A/y; H2AF12M; H2AFY; MACROH2A1.1;
                     macroH2A1.2; mH2A1"
                     /note="major polyA site"
ORIGIN      
        1 ccagttcact cggcagcggc gccgggcgga gggggagagc gcgggccgcg cgggcgggaa
       61 gcgaagaggc gggcgggcca gcgaggagcg cggagagaaa aggcgcgagc ggccaggagg
      121 gctcaggccg agacaccttg cagctgccgc cgccgccacc gagccgccgc tgtgctcact
      181 gatccgcctc cagggccacc gccatgtcga gccgcggtgg gaagaagaag tccaccaaga
      241 cgtccaggtc tgccaaagca ggagtcatct ttcccgtggg gcggatgctg cggtacatca
      301 agaaaggcca ccccaagtac aggattggag tgggggcacc cgtgtacatg gccgccgtcc
      361 tggaatacct gacagcggag attctggagc tggctggcaa tgcagcgaga gacaacaaga
      421 agggacgggt cacaccccgg cacatcctgc tggctgtggc caatgatgaa gagctgaatc
      481 agctgctaaa aggagtcacc atagccagtg ggggtgtgtt acccaacatc caccccgagt
      541 tgctagcgaa gaagcgggga tccaaaggaa agttggaagc catcatcaca ccacccccag
      601 ccaaaaaggc caagtctcca tcccagaaga agcctgtatc taaaaaagca ggaggcaaga
      661 aaggggcccg gaaatccaag aagaagcagg gtgaagtcag taaggcagcc agcgccgaca
      721 gcacaaccga gggcacacct gccgacggct tcacagtcct ctccaccaag agcctcttcc
      781 ttggccagaa gctgaacctt attcacagtg aaatcagtaa tttagccggc tttgaggtgg
      841 aggccataat caatcctacc aatgctgaca ttgaccttaa agatgaccta ggaaacacgc
      901 tggagaagaa aggtggcaag gagtttgtgg aagctgtcct ggaactccgg aaaaagaacg
      961 ggcccttgga agtagctgga gctgctgtca gcgcaggcca tggcctgcct gccaagtttg
     1021 tgatccactg taatagtcca gtttggggtg cagacaagtg tgaagaactt ctggaaaaga
     1081 cagtgaaaaa ctgcttggcc ctggctgatg ataagaagct gaaatccatt gcatttccat
     1141 ccatcggcag cggcaggaac ggttttccaa agcagacagc agctcagctg attctgaagg
     1201 ccatctccag ttacttcgtg tctacaatgt cctcttccat caaaacggtg tacttcgtgc
     1261 tttttgacag cgagagtata ggcatctatg tgcaggaaat ggccaagctg gacgccaact
     1321 aggctgagca atgacagaac cagctgcacc atgtacccca ccttcagttt aaaagaaaaa
     1381 aaaaatcccc ttcactccta ctgggaggtg ggaccccttt cattttcagt tttgctcatc
     1441 tagggaaaat aaggctttgg tttccagttt aattgttttt gaccttctaa aatgttttta
     1501 tgttagcact gatagttggc attactgttg ttaagcactg tgttccagac cgtgtctgac
     1561 ttagtgtaac ctaggagatt ttatagtttt attttaatga aaccctgatt gacgcacagc
     1621 agtggggaga acagcgtctt ttacctgtca ccgaagccag gaagccccgt ttgtaagcgt
     1681 gtgttgtggt gctttattgt acatcctcca gtggcgttct ttttactcta atgttctttt
     1741 ggtttccccc ctcagaagaa tcatgaattt gcaacagacc taatttttgg ttactttttg
     1801 tcttattgat ggatttgaaa atgaaagatt taataaggca aagcagaatc tgttgtcctt
     1861 aattatattt gcaatttgga atttgtgtga gttgatttag taaaatgtta aaccgtt
//
