LOCUS       NM_004674               2918 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens ASH2 like, histone lysine methyltransferase complex
            subunit (ASH2L), transcript variant 1, mRNA.
ACCESSION   NM_004674
VERSION     NM_004674.5
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 2918)
  AUTHORS   Batbayar,G., Ishimura,A., Lyu,H., Wanna-Udom,S., Meguro-Horike,M.,
            Terashima,M., Horike,S.I., Takino,T. and Suzuki,T.
  TITLE     ASH2L, a COMPASS core subunit, is involved in the cell invasion and
            migration of triple-negative breast cancer cells through the
            epigenetic control of histone H3 lysine 4 methylation
  JOURNAL   Biochem Biophys Res Commun 669, 19-29 (2023)
   PUBMED   37262949
  REMARK    GeneRIF: ASH2L, a COMPASS core subunit, is involved in the cell
            invasion and migration of triple-negative breast cancer cells
            through the epigenetic control of histone H3 lysine 4 methylation.
REFERENCE   2  (bases 1 to 2918)
  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   3  (bases 1 to 2918)
  AUTHORS   Lee,Y.T., Ayoub,A., Park,S.H., Sha,L., Xu,J., Mao,F., Zheng,W.,
            Zhang,Y., Cho,U.S. and Dou,Y.
  TITLE     Mechanism for DPY30 and ASH2L intrinsically disordered regions to
            modulate the MLL/SET1 activity on chromatin
  JOURNAL   Nat Commun 12 (1), 2953 (2021)
   PUBMED   34012049
  REMARK    GeneRIF: Mechanism for DPY30 and ASH2L intrinsically disordered
            regions to modulate the MLL/SET1 activity on chromatin.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2918)
  AUTHORS   Li,X., Qu,M., Zhang,J., Chen,K. and Ma,X.
  TITLE     CircASH2L facilitates tumor-like biologic behaviours and
            inflammation of fibroblast-like synoviocytes via miR-129-5p/HIPK2
            axis in rheumatoid arthritis
  JOURNAL   J Orthop Surg Res 16 (1), 302 (2021)
   PUBMED   33964939
  REMARK    GeneRIF: CircASH2L facilitates tumor-like biologic behaviours and
            inflammation of fibroblast-like synoviocytes via miR-129-5p/HIPK2
            axis in rheumatoid arthritis.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2918)
  AUTHORS   Velot,L., Lessard,F., Berube-Simard,F.A., Tav,C., Neveu,B.,
            Teyssier,V., Boudaoud,I., Dionne,U., Lavoie,N., Bilodeau,S.,
            Pouliot,F. and Bisson,N.
  TITLE     Proximity-dependent Mapping of the Androgen Receptor Identifies
            Kruppel-like Factor 4 as a Functional Partner
  JOURNAL   Mol Cell Proteomics 20, 100064 (2021)
   PUBMED   33640491
REFERENCE   6  (bases 1 to 2918)
  AUTHORS   Hughes,C.M., Rozenblatt-Rosen,O., Milne,T.A., Copeland,T.D.,
            Levine,S.S., Lee,J.C., Hayes,D.N., Shanmugam,K.S.,
            Bhattacharjee,A., Biondi,C.A., Kay,G.F., Hayward,N.K., Hess,J.L.
            and Meyerson,M.
  TITLE     Menin associates with a trithorax family histone methyltransferase
            complex and with the hoxc8 locus
  JOURNAL   Mol Cell 13 (4), 587-597 (2004)
   PUBMED   14992727
REFERENCE   7  (bases 1 to 2918)
  AUTHORS   Wysocka,J., Myers,M.P., Laherty,C.D., Eisenman,R.N. and Herr,W.
  TITLE     Human Sin3 deacetylase and trithorax-related Set1/Ash2 histone
            H3-K4 methyltransferase are tethered together selectively by the
            cell-proliferation factor HCF-1
  JOURNAL   Genes Dev 17 (7), 896-911 (2003)
   PUBMED   12670868
REFERENCE   8  (bases 1 to 2918)
  AUTHORS   Goo,Y.H., Sohn,Y.C., Kim,D.H., Kim,S.W., Kang,M.J., Jung,D.J.,
            Kwak,E., Barlev,N.A., Berger,S.L., Chow,V.T., Roeder,R.G.,
            Azorsa,D.O., Meltzer,P.S., Suh,P.G., Song,E.J., Lee,K.J., Lee,Y.C.
            and Lee,J.W.
  TITLE     Activating signal cointegrator 2 belongs to a novel steady-state
            complex that contains a subset of trithorax group proteins
  JOURNAL   Mol Cell Biol 23 (1), 140-149 (2003)
   PUBMED   12482968
REFERENCE   9  (bases 1 to 2918)
  AUTHORS   Wang,J., Zhou,Y., Yin,B., Du,G., Huang,X., Li,G., Shen,Y., Yuan,J.
            and Qiang,B.
  TITLE     ASH2L: alternative splicing and downregulation during induced
            megakaryocytic differentiation of multipotential leukemia cell
            lines
  JOURNAL   J Mol Med (Berl) 79 (7), 399-405 (2001)
   PUBMED   11466562
REFERENCE   10 (bases 1 to 2918)
  AUTHORS   Ikegawa,S., Isomura,M., Koshizuka,Y. and Nakamura,Y.
  TITLE     Cloning and characterization of ASH2L and Ash2l, human and mouse
            homologs of the Drosophila ash2 gene
  JOURNAL   Cytogenet Cell Genet 84 (3-4), 167-172 (1999)
   PUBMED   10393421
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC353644.1, AB020982.1 and AC084024.17.
            
            On May 17, 2019 this sequence version replaced NM_004674.4.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR1803616.103317.1,
                                           SRR1803613.81882.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000343823.11/ ENSP00000340896.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-11                DC353644.1         38-48
            12-1275             AB020982.1         1-1264
            1276-1276           AC084024.17        14036-14036
            1277-2379           AB020982.1         1266-2368
            2380-2918           AC084024.17        25199-25737
FEATURES             Location/Qualifiers
     source          1..2918
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p11.23"
     gene            1..2918
                     /gene="ASH2L"
                     /gene_synonym="ASH2; ASH2L1; ASH2L2; Bre2"
                     /note="ASH2 like, histone lysine methyltransferase complex
                     subunit"
                     /db_xref="GeneID:9070"
                     /db_xref="HGNC:HGNC:744"
                     /db_xref="MIM:604782"
     exon            1..210
                     /gene="ASH2L"
                     /gene_synonym="ASH2; ASH2L1; ASH2L2; Bre2"
                     /inference="alignment:Splign:2.1.0"
     CDS             23..1909
                     /gene="ASH2L"
                     /gene_synonym="ASH2; ASH2L1; ASH2L2; Bre2"
                     /note="isoform a is encoded by transcript variant 1;
                     set1/Ash2 histone methyltransferase complex subunit ASH2;
                     ASH2-like protein; ash2 (absent, small, or homeotic)-like"
                     /codon_start=1
                     /product="set1/Ash2 histone methyltransferase complex
                     subunit ASH2 isoform a"
                     /protein_id="NP_004665.2"
                     /db_xref="CCDS:CCDS6101.1"
                     /db_xref="GeneID:9070"
                     /db_xref="HGNC:HGNC:744"
                     /db_xref="MIM:604782"
                     /translation="MAAAGAGPGQEAGAGPGPGAVANATGAEEGEMKPVAAGAAAPPG
                     EGISAAPTVEPSSGEAEGGEANLVDVSGGLETESSNGKDTLEGAGDTSEVMDTQAGSV
                     DEENGRQLGEVELQCGICTKWFTADTFGIDTSSCLPFMTNYSFHCNVCHHSGNTYFLR
                     KQANLKEMCLSALANLTWQSRTQDEHPKTMFSKDKDIIPFIDKYWECMTTRQRPGKMT
                     WPNNIVKTMSKERDVFLVKEHPDPGSKDPEEDYPKFGLLDQDLSNIGPAYDNQKQSSA
                     VSTSGNLNGGIAAGSSGKGRGAKRKQQDGGTTGTTKKARSDPLFSAQRLPPHGYPLEH
                     PFNKDGYRYILAEPDPHAPDPEKLELDCWAGKPIPGDLYRACLYERVLLALHDRAPQL
                     KISDDRLTVVGEKGYSMVRASHGVRKGAWYFEITVDEMPPDTAARLGWSQPLGNLQAP
                     LGYDKFSYSWRSKKGTKFHQSIGKHYSSGYGQGDVLGFYINLPEDTETAKSLPDTYKD
                     KALIKFKSYLYFEEKDFVDKAEKSLKQTPHSEIIFYKNGVNQGVAYKDIFEGVYFPAI
                     SLYKSCTVSINFGPCFKYPPKDLTYRPMSDMGWGAVVEHTLADVLYHVETEVDGRRSP
                     PWEP"
     exon            211..277
                     /gene="ASH2L"
                     /gene_synonym="ASH2; ASH2L1; ASH2L2; Bre2"
                     /inference="alignment:Splign:2.1.0"
     exon            278..423
                     /gene="ASH2L"
                     /gene_synonym="ASH2; ASH2L1; ASH2L2; Bre2"
                     /inference="alignment:Splign:2.1.0"
     exon            424..512
                     /gene="ASH2L"
                     /gene_synonym="ASH2; ASH2L1; ASH2L2; Bre2"
                     /inference="alignment:Splign:2.1.0"
     exon            513..607
                     /gene="ASH2L"
                     /gene_synonym="ASH2; ASH2L1; ASH2L2; Bre2"
                     /inference="alignment:Splign:2.1.0"
     exon            608..703
                     /gene="ASH2L"
                     /gene_synonym="ASH2; ASH2L1; ASH2L2; Bre2"
                     /inference="alignment:Splign:2.1.0"
     exon            704..799
                     /gene="ASH2L"
                     /gene_synonym="ASH2; ASH2L1; ASH2L2; Bre2"
                     /inference="alignment:Splign:2.1.0"
     exon            800..875
                     /gene="ASH2L"
                     /gene_synonym="ASH2; ASH2L1; ASH2L2; Bre2"
                     /inference="alignment:Splign:2.1.0"
     exon            876..969
                     /gene="ASH2L"
                     /gene_synonym="ASH2; ASH2L1; ASH2L2; Bre2"
                     /inference="alignment:Splign:2.1.0"
     exon            970..1187
                     /gene="ASH2L"
                     /gene_synonym="ASH2; ASH2L1; ASH2L2; Bre2"
                     /inference="alignment:Splign:2.1.0"
     exon            1188..1355
                     /gene="ASH2L"
                     /gene_synonym="ASH2; ASH2L1; ASH2L2; Bre2"
                     /inference="alignment:Splign:2.1.0"
     exon            1356..1549
                     /gene="ASH2L"
                     /gene_synonym="ASH2; ASH2L1; ASH2L2; Bre2"
                     /inference="alignment:Splign:2.1.0"
     exon            1550..1642
                     /gene="ASH2L"
                     /gene_synonym="ASH2; ASH2L1; ASH2L2; Bre2"
                     /inference="alignment:Splign:2.1.0"
     exon            1643..1741
                     /gene="ASH2L"
                     /gene_synonym="ASH2; ASH2L1; ASH2L2; Bre2"
                     /inference="alignment:Splign:2.1.0"
     exon            1742..1801
                     /gene="ASH2L"
                     /gene_synonym="ASH2; ASH2L1; ASH2L2; Bre2"
                     /inference="alignment:Splign:2.1.0"
     exon            1802..2918
                     /gene="ASH2L"
                     /gene_synonym="ASH2; ASH2L1; ASH2L2; Bre2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2519..2524
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASH2L"
                     /gene_synonym="ASH2; ASH2L1; ASH2L2; Bre2"
                     /note="hexamer: AATAAA"
     polyA_site      2541
                     /gene="ASH2L"
                     /gene_synonym="ASH2; ASH2L1; ASH2L2; Bre2"
                     /note="major polyA site"
     regulatory      2876..2881
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASH2L"
                     /gene_synonym="ASH2; ASH2L1; ASH2L2; Bre2"
                     /note="hexamer: ATTAAA"
     polyA_site      2894
                     /gene="ASH2L"
                     /gene_synonym="ASH2; ASH2L1; ASH2L2; Bre2"
ORIGIN      
        1 gagaagtcca ggggtggccg tgatggcggc ggcaggagca ggacctggcc aggaagcggg
       61 tgccgggcct ggcccaggag cggtcgcaaa tgcaacaggg gcagaagagg gggagatgaa
      121 gccggtggca gcgggagcag ccgctcctcc tggagagggg atctctgctg ctccgacagt
      181 tgagcccagt tccggggagg ctgaaggcgg ggaggcaaac ttggtcgatg taagcggtgg
      241 cttggagaca gaatcatcta atggaaaaga tacactagaa ggtgctgggg atacatcaga
      301 ggtgatggat actcaggcgg gctccgtgga tgaagagaat ggccgacagt tgggtgaggt
      361 agagctgcaa tgtgggattt gtacaaaatg gttcacggct gacacatttg gcatagatac
      421 ctcatcctgt ctacctttca tgaccaacta cagttttcat tgcaacgtct gccatcacag
      481 tgggaatacc tatttcctcc ggaagcaagc aaacttgaag gaaatgtgcc ttagtgcttt
      541 ggccaacctg acatggcagt cccgaacaca ggatgaacat ccgaagacaa tgttctccaa
      601 agataaggat attataccat ttattgataa atactgggag tgcatgacaa ccagacagag
      661 acctgggaaa atgacttggc caaataacat tgttaaaaca atgagtaaag aaagagatgt
      721 attcttggta aaggaacacc cagatccagg cagtaaagat ccagaagaag attaccccaa
      781 atttggactt ttggatcagg accttagtaa cattggtcct gcttatgaca accaaaaaca
      841 gagcagtgct gtgtctacta gtgggaattt aaatggggga attgcagcag gaagcagcgg
      901 aaaaggacga ggagccaagc gcaaacagca ggatggaggg accacaggga ccaccaagaa
      961 ggcccggagt gaccctttgt tttctgctca gcgccttccc cctcatggct acccattgga
     1021 acacccgttt aacaaagatg gctatcggta tattctagct gagcctgatc cgcacgcccc
     1081 tgaccccgag aagctggaac ttgactgctg ggcaggaaaa cctattcctg gagacctcta
     1141 cagagcctgc ttgtatgaac gggttttgtt agccctacat gatcgagctc cccagttaaa
     1201 gatctcagat gaccggctga ctgtggttgg agagaagggc tactctatgg tgagggcctc
     1261 tcatggagta cggaaaggtg cctggtattt tgaaatcact gtggatgaga tgccaccaga
     1321 taccgctgcc agactgggtt ggtcccagcc cctaggaaac cttcaagctc ctttaggtta
     1381 tgataaattt agctattctt ggcggagcaa aaagggaacc aagttccacc agtccattgg
     1441 caaacactac tcttctggct atggacaggg agacgtcctg ggattttata ttaatcttcc
     1501 tgaagacaca gagacagcca agtcattgcc agacacatac aaagataagg ctttgataaa
     1561 attcaagagt tatttgtatt ttgaggaaaa agactttgtg gataaagcag agaagagcct
     1621 gaagcagact ccccatagtg agataatatt ttataaaaat ggtgtcaatc aaggtgtggc
     1681 ttacaaagat atttttgagg gggtttactt cccagccatc tcactgtaca agagctgcac
     1741 ggtttccatt aactttggac catgcttcaa gtatcctccg aaggatctca cttaccgccc
     1801 tatgagtgac atgggctggg gcgccgtggt agagcacacc ctggctgacg tcttgtatca
     1861 cgtggagaca gaagtggatg ggaggcgcag tcccccatgg gaaccctgac caggtccctc
     1921 ttttctgtca aggactttct gggaataata ctgggggttt tgtttttgtt tttgaactgt
     1981 ctcaaatgtt ctcccaaaga tgctaaaaac acagcctctc cttttagcaa gttaaaaggc
     2041 tgggtaggac tgcgggagac tgcctgcctt tcaccatttt ctccccactt ccagtgactg
     2101 ctcttatttt gtgtaccata agccaacaac cgctgactcc aggattgcat aagccccctg
     2161 tgaaatcggt gctgtactgc ataccctgcc agctgtgact tgttatccta ctatattttc
     2221 taaggagtga ataatattgt ccgagtaact aacttattta aaagacattt ccttctgtgg
     2281 gcattgactg tatcccacct gttttccaag gaaatggtaa cctgtttctg agaacacctg
     2341 aaatcaatgg ctatacattc caaaccaatc taaacgctat ttccttttgg tgtgggtttg
     2401 gttttgttca ttttgaaata cacttttgaa cactgagatc cgtaaaacta ctagatctct
     2461 ggaagtgtaa ttgtgaaaga aacttgcttg cagctttaac aaaatgagaa acttcccaaa
     2521 taaaacttgt tttgaagttt atgtgacact ttgcttccct tcagattggg tgcctcttgg
     2581 tgacagtgtt cagaaatgta agcagcacga ggaagggagc tggcactggg aggaagagcc
     2641 gggtttctga gttgtgtttt ggctgctttc ctattgctcc cattcttgcc aatcagccac
     2701 cccctttcct gtgaaaatct gccaccttga ggagaggaac aagagtttaa aagggctaat
     2761 gatctccctc ccggtcttcc cttggaacat ggatgttgat atatgtgcgg gtggtttcct
     2821 gtcttgctta tcttcctttg ccctgagctg atggctaaag ggcagttttc ggactattaa
     2881 agactgaaat gtaagaatga gccttctagg ctgggcgc
//
