LOCUS       NM_018649               1932 bp    mRNA    linear   PRI 17-MAR-2024
DEFINITION  Homo sapiens macroH2A.2 histone (MACROH2A2), mRNA.
ACCESSION   NM_018649
VERSION     NM_018649.3
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 1932)
  AUTHORS   Jin,Y., Eum,D.Y., Lee,C., Park,S.Y., Shim,J.W., Choi,Y.J.,
            Choi,S.H., Kim,J.G., Heo,K. and Park,S.J.
  TITLE     Breast cancer malignancy is governed by regulation of the
            macroH2A2/TM4SF1 axis, the AKT/NF-kappaB pathway, and elevated
            MMP13 expression
  JOURNAL   Mol Carcinog 63 (4), 714-727 (2024)
   PUBMED   38251858
  REMARK    GeneRIF: Breast cancer malignancy is governed by regulation of the
            macroH2A2/TM4SF1 axis, the AKT/NF-kappaB pathway, and elevated
            MMP13 expression.
REFERENCE   2  (bases 1 to 1932)
  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   3  (bases 1 to 1932)
  AUTHORS   Lubin,E., Bryant,L., Aicher,J., Li,D. and Bhoj,E.
  TITLE     Analysis of histone variant constraint and tissue expression
            suggests five potential novel human disease genes: H2AFY2, H2AFZ,
            H2AFY, H2AFV, H1F0
  JOURNAL   Hum Genet 141 (8), 1409-1421 (2022)
   PUBMED   35072799
  REMARK    GeneRIF: Analysis of histone variant constraint and tissue
            expression suggests five potential novel human disease genes:
            H2AFY2, H2AFZ, H2AFY, H2AFV, H1F0.
REFERENCE   4  (bases 1 to 1932)
  AUTHORS   Ni,K. and Muegge,K.
  TITLE     LSH catalyzes ATP-driven exchange of histone variants macroH2A1 and
            macroH2A2
  JOURNAL   Nucleic Acids Res 49 (14), 8024-8036 (2021)
   PUBMED   34223906
  REMARK    GeneRIF: LSH catalyzes ATP-driven exchange of histone variants
            macroH2A1 and macroH2A2.
REFERENCE   5  (bases 1 to 1932)
  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   6  (bases 1 to 1932)
  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 1932)
  AUTHORS   Costanzi,C. and Pehrson,J.R.
  TITLE     MACROH2A2, a new member of the MARCOH2A core histone family
  JOURNAL   J Biol Chem 276 (24), 21776-21784 (2001)
   PUBMED   11262398
REFERENCE   8  (bases 1 to 1932)
  AUTHORS   Chadwick,B.P. and Willard,H.F.
  TITLE     Histone H2A variants and the inactive X chromosome: identification
            of a second macroH2A variant
  JOURNAL   Hum Mol Genet 10 (10), 1101-1113 (2001)
   PUBMED   11331621
REFERENCE   9  (bases 1 to 1932)
  AUTHORS   Deng,L., de la Fuente,C., Fu,P., Wang,L., Donnelly,R., Wade,J.D.,
            Lambert,P., Li,H., Lee,C.G. and Kashanchi,F.
  TITLE     Acetylation of HIV-1 Tat by CBP/P300 increases transcription of
            integrated HIV-1 genome and enhances binding to core histones
  JOURNAL   Virology 277 (2), 278-295 (2000)
   PUBMED   11080476
REFERENCE   10 (bases 1 to 1932)
  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 AC024601.9 and AL731540.4.
            
            On Nov 22, 2018 this sequence version replaced NM_018649.2.
            
            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 may participate in stable X chromosome
            inactivation. [provided by RefSeq, Oct 2015].
            
            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 :: AK022776.1, BC016172.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match              :: ENST00000373255.9/
                                               ENSP00000362352.3
            RefSeq Select criteria          :: based on single protein-coding
                                               transcript
            replication-independent histone :: PMID: 25731851
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-155               AC024601.9         21291-21445         c
            156-386             AL731540.4         18142-18372
            387-493             AL731540.4         32602-32708
            494-691             AL731540.4         34299-34496
            692-802             AL731540.4         36277-36387
            803-902             AL731540.4         38196-38295
            903-992             AL731540.4         42750-42839
            993-1167            AL731540.4         51575-51749
            1168-1932           AL731540.4         54060-54824
FEATURES             Location/Qualifiers
     source          1..1932
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.1"
     gene            1..1932
                     /gene="MACROH2A2"
                     /gene_synonym="H2AFY2"
                     /note="macroH2A.2 histone"
                     /db_xref="GeneID:55506"
                     /db_xref="HGNC:HGNC:14453"
                     /db_xref="MIM:616141"
     exon            1..155
                     /gene="MACROH2A2"
                     /gene_synonym="H2AFY2"
                     /inference="alignment:Splign:2.1.0"
     exon            156..386
                     /gene="MACROH2A2"
                     /gene_synonym="H2AFY2"
                     /inference="alignment:Splign:2.1.0"
     CDS             215..1333
                     /gene="MACROH2A2"
                     /gene_synonym="H2AFY2"
                     /note="core histone macroH2A2.2; mH2A2; H2A histone family
                     member Y2"
                     /codon_start=1
                     /product="core histone macro-H2A.2"
                     /protein_id="NP_061119.1"
                     /db_xref="CCDS:CCDS7296.1"
                     /db_xref="GeneID:55506"
                     /db_xref="HGNC:HGNC:14453"
                     /db_xref="MIM:616141"
                     /translation="MSGRSGKKKMSKLSRSARAGVIFPVGRLMRYLKKGTFKYRISVG
                     APVYMAAVIEYLAAEILELAGNAARDNKKARIAPRHILLAVANDEELNQLLKGVTIAS
                     GGVLPRIHPELLAKKRGTKGKSETILSPPPEKRGRKATSGKKGGKKSKAAKPRTSKKS
                     KPKDSDKEGTSNSTSEDGPGDGFTILSSKSLVLGQKLSLTQSDISHIGSMRVEGIVHP
                     TTAEIDLKEDIGKALEKAGGKEFLETVKELRKSQGPLEVAEAAVSQSSGLAAKFVIHC
                     HIPQWGSDKCEEQLEETIKNCLSAAEDKKLKSVAFPPFPSGRNCFPKQTAAQVTLKAI
                     SAHFDDSSASSLKNVYFLLFDSESIGIYVQEMAKLDAK"
     exon            387..493
                     /gene="MACROH2A2"
                     /gene_synonym="H2AFY2"
                     /inference="alignment:Splign:2.1.0"
     exon            494..691
                     /gene="MACROH2A2"
                     /gene_synonym="H2AFY2"
                     /inference="alignment:Splign:2.1.0"
     exon            692..802
                     /gene="MACROH2A2"
                     /gene_synonym="H2AFY2"
                     /inference="alignment:Splign:2.1.0"
     exon            803..902
                     /gene="MACROH2A2"
                     /gene_synonym="H2AFY2"
                     /inference="alignment:Splign:2.1.0"
     exon            903..992
                     /gene="MACROH2A2"
                     /gene_synonym="H2AFY2"
                     /inference="alignment:Splign:2.1.0"
     exon            993..1167
                     /gene="MACROH2A2"
                     /gene_synonym="H2AFY2"
                     /inference="alignment:Splign:2.1.0"
     exon            1168..1932
                     /gene="MACROH2A2"
                     /gene_synonym="H2AFY2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1632..1637
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MACROH2A2"
                     /gene_synonym="H2AFY2"
                     /note="hexamer: AAGAAA"
     polyA_site      1660
                     /gene="MACROH2A2"
                     /gene_synonym="H2AFY2"
                     /note="major polyA site"
     regulatory      1889..1894
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MACROH2A2"
                     /gene_synonym="H2AFY2"
                     /note="hexamer: AATGAA"
     regulatory      1903..1908
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MACROH2A2"
                     /gene_synonym="H2AFY2"
                     /note="hexamer: AATAAA"
     polyA_site      1909
                     /gene="MACROH2A2"
                     /gene_synonym="H2AFY2"
     polyA_site      1932
                     /gene="MACROH2A2"
                     /gene_synonym="H2AFY2"
                     /note="major polyA site"
ORIGIN      
        1 agagaactgc cgcttgccgc cattgacacg cacagataga acccaaagaa aggcaaagag
       61 tcctgcccgg caccggcgcc gcgtgggcca aacctgcgcc cgtggagggg cgcgcagagg
      121 gcaccgggcg ccgggagcag gcggcgcagc accagcattg tgttagtgcc gggaggccac
      181 tgtgtcagca agctgagagg gaaactgaag caagatgtcg ggccggagtg ggaagaagaa
      241 aatgtccaag ctgtcccgtt cagctagggc aggtgtcatc tttccagtgg ggaggctgat
      301 gcgttatctg aagaaaggga cgttcaagta ccggatcagc gtgggcgccc ctgtctacat
      361 ggcggcagtc attgagtacc tggcagcgga aattctagaa ttggccggca atgccgcgag
      421 ggacaacaag aaggcccgga tagccccgag acacatcttg ctggcagttg ccaatgacga
      481 ggagctcaac cagctgctaa aaggagtgac catcgccagt ggaggcgtcc tgcccagaat
      541 tcaccccgaa ctgctggcca aaaagcgagg gaccaaaggc aagtcggaaa cgatcctctc
      601 cccaccccca gagaaaagag gcaggaaggc cacgtcaggc aagaaggggg ggaagaaatc
      661 caaggctgcc aaaccacgga cgtccaaaaa gtccaaacca aaggacagcg ataaagaagg
      721 aacttcaaat tccacctctg aagatgggcc aggggatgga ttcaccattc tgtcttctaa
      781 gagccttgtt ctgggacaga agctgtcctt aacccagagt gacatcagcc atattggctc
      841 catgagagtg gagggcattg tccacccaac cacagccgaa attgacctca aagaagatat
      901 aggtaaagcc ttggaaaagg ctgggggaaa agagttcttg gaaacggtaa aggagcttcg
      961 caaatcccaa ggccctttgg aagtcgccga agccgccgtc agccaatcca gtggactcgc
     1021 agccaaattt gtcatccact gtcacatccc tcagtggggc tccgacaaat gtgaagaaca
     1081 gcttgaagag accatcaaaa actgcctgtc agcggcggag gacaagaagc taaagtccgt
     1141 cgcgttcccg cctttcccca gcggcagaaa ctgctttccc aaacagactg cggcccaggt
     1201 gaccctcaaa gccatctcag cccactttga tgactcgagc gcgtcctcgc tgaagaacgt
     1261 gtacttcctg ctcttcgaca gcgagagcat cggcatctac gtgcaggaga tggccaagct
     1321 cgacgccaag tagccgccgc actttccagc agggatcgga ggacgacccg agtcccaaga
     1381 gtggggtttt gctttttaaa aggagagagg aggggtgatg gcaggggagt ggagggtggc
     1441 cgggcaggtc ctgccggcgc agggagccct ctgcccttca cactctcctc caaaagagcc
     1501 tccatctgta aggaagcagg tctccgcgag gggtttcttt ccatgtgttt tcctcctgtt
     1561 gttttagaac ttttttaaaa aaacagacct cgttttagat ttatagcatt gacttttaca
     1621 cacattcaca caagaaaaaa atcctttcaa aattcttaaa tcttctgttc ctcctttttc
     1681 caagggaaga gggcaaaaag tggcctgggc tctgttggtg tgcgtgttcc gtggcggaga
     1741 gaagaaaatg ggaaagacat ctcactggtg cttttctctt ttgttttagt gccccccgcc
     1801 cccatcccta taatatctgt aactactcct aaaaaggttt tgattcaggc ttttttttgg
     1861 tttcattttg tttttttaag aaaaagaaaa tgaaaggaaa aaaataaaag atccagtgtc
     1921 tttcttacaa ca
//
