LOCUS       NM_001330559            3549 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens L3MBTL histone methyl-lysine binding protein 4
            (L3MBTL4), transcript variant 2, mRNA.
ACCESSION   NM_001330559 XM_005258166
VERSION     NM_001330559.2
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 3549)
  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   2  (bases 1 to 3549)
  AUTHORS   Liu,X., Hu,C., Bao,M., Li,J., Liu,X., Tan,X., Zhou,Y., Chen,Y.,
            Wu,S., Chen,S., Zhang,R., Jiang,F., Jia,W., Wang,X., Yang,X. and
            Cai,J.
  TITLE     Genome Wide Association Study Identifies L3MBTL4 as a Novel
            Susceptibility Gene for Hypertension
  JOURNAL   Sci Rep 6, 30811 (2016)
   PUBMED   27480026
  REMARK    GeneRIF: Findings pinpointed L3MBTL4 as a critical contributor to
            the development and progression of hypertension.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3549)
  AUTHORS   Byrne,E.M., Gehrman,P.R., Medland,S.E., Nyholt,D.R., Heath,A.C.,
            Madden,P.A., Hickie,I.B., Van Duijn,C.M., Henders,A.K.,
            Montgomery,G.W., Martin,N.G. and Wray,N.R.
  CONSRTM   Chronogen Consortium
  TITLE     A genome-wide association study of sleep habits and insomnia
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 162B (5), 439-451 (2013)
   PUBMED   23728906
REFERENCE   4  (bases 1 to 3549)
  AUTHORS   Ferreira,R.C., Pan-Hammarstrom,Q., Graham,R.R., Gateva,V.,
            Fontan,G., Lee,A.T., Ortmann,W., Urcelay,E., Fernandez-Arquero,M.,
            Nunez,C., Jorgensen,G., Ludviksson,B.R., Koskinen,S., Haimila,K.,
            Clark,H.F., Klareskog,L., Gregersen,P.K., Behrens,T.W. and
            Hammarstrom,L.
  TITLE     Association of IFIH1 and other autoimmunity risk alleles with
            selective IgA deficiency
  JOURNAL   Nat Genet 42 (9), 777-780 (2010)
   PUBMED   20694011
REFERENCE   5  (bases 1 to 3549)
  AUTHORS   Addou-Klouche,L., Adelaide,J., Finetti,P., Cervera,N., Ferrari,A.,
            Bekhouche,I., Sircoulomb,F., Sotiriou,C., Viens,P.,
            Moulessehoul,S., Bertucci,F., Birnbaum,D. and Chaffanet,M.
  TITLE     Loss, mutation and deregulation of L3MBTL4 in breast cancers
  JOURNAL   Mol Cancer 9, 213 (2010)
   PUBMED   20698951
  REMARK    GeneRIF: identified L3MBTL4 as a potential tumor suppressor gene of
            chromosome arm 18p. The gene is targeted by deletion, breakage and
            mutations and its mRNA is downregulated in breast tumors
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3549)
  AUTHORS   Loftus,J.C., Plow,E.F., Frelinger,A.L. 3rd, D'Souza,S.E., Dixon,D.,
            Lacy,J., Sorge,J. and Ginsberg,M.H.
  TITLE     Molecular cloning and chemical synthesis of a region of platelet
            glycoprotein IIb involved in adhesive function
  JOURNAL   Proc Natl Acad Sci U S A 84 (20), 7114-7118 (1987)
   PUBMED   2444974
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP005060.2, AP000874.4, AP005228.3, AP001021.5 and CA313345.1.
            
            On Feb 27, 2020 this sequence version replaced NM_001330559.1.
            
            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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.174773.1,
                                           SRR18074968.4334804.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000317931.12/ ENSP00000318543.7
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-111               AP005060.2         81476-81586         c
            112-170             AP000874.4         126919-126977       c
            171-273             AP000874.4         126475-126577       c
            274-328             AP000874.4         116824-116878       c
            329-420             AP000874.4         78868-78959         c
            421-525             AP005228.3         186244-186348       c
            526-661             AP005228.3         185054-185189       c
            662-753             AP005228.3         183118-183209       c
            754-908             AP005228.3         181478-181632       c
            909-985             AP005228.3         179724-179800       c
            986-1071            AP005228.3         157510-157595       c
            1072-1182           AP005228.3         154909-155019       c
            1183-1297           AP005228.3         113588-113702       c
            1298-1400           AP005228.3         79954-80056         c
            1401-1574           AP001021.5         192999-193172       c
            1575-1645           AP001021.5         180525-180595       c
            1646-1815           AP001021.5         69037-69206         c
            1816-1878           AP001021.5         59738-59800         c
            1879-3478           AP001021.5         54432-56031         c
            3479-3549           CA313345.1         29-99               c
FEATURES             Location/Qualifiers
     source          1..3549
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18p11.31"
     gene            1..3549
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /note="L3MBTL histone methyl-lysine binding protein 4"
                     /db_xref="GeneID:91133"
                     /db_xref="HGNC:HGNC:26677"
                     /db_xref="MIM:617135"
     exon            1..111
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /inference="alignment:Splign:2.1.0"
     exon            112..170
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /inference="alignment:Splign:2.1.0"
     exon            171..273
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /inference="alignment:Splign:2.1.0"
     CDS             202..2046
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /note="isoform 2 is encoded by transcript variant 2;
                     lethal(3)malignant brain tumor-like protein 4;
                     H-l(3)mbt-like protein 4; L3MBTL4, histone methyl-lysine
                     binding protein"
                     /codon_start=1
                     /product="lethal(3)malignant brain tumor-like protein 4
                     isoform 2"
                     /protein_id="NP_001317488.1"
                     /db_xref="CCDS:CCDS82238.1"
                     /db_xref="GeneID:91133"
                     /db_xref="HGNC:HGNC:26677"
                     /db_xref="MIM:617135"
                     /translation="MKQPNRKRKLNMDSKERLDQDGRLEQAEEEKKPKDSTTPLSHVP
                     SAAAQGAWSWEWYLKEQKAVAAPVELFSKDQSFPEHENGFQIGMRLEGIDPRHPSVFC
                     VLSVAEVCGYRLRLHFDGYLSCYDFWTNAGSPDIHPVGWCEKTKHELHIPKGYRKDKF
                     VWMDYLKACKLQNAPKKLFRNRSPNGPMSKEFQVGMKLEAVDRKNPSLVCVATIADIV
                     EDRLLVHFDNWDDSYDYWCDVNSPYVQPVGWCQENGRTLIAPQGYPNPENFSWTEYLE
                     ATQTNAVPAKVFKMRLPHGFLPNMKLEVVDKRNPRLIRVATIVDVDDQRVKVHFDGWD
                     HKYDYWVEADSPDIHPIGWCDVTGHPLEVPQRTNDLKILPGQAVCPTPGCRGIGHIRG
                     PRYSGHHSAFGCPYSDMNLKKEATLHDRLREQTQANLESDSSHSKSKSLCSLNFNGKH
                     EKVNSQPRLVQQAKCLKIKGKEDIDLDNLFREYSVEQAQQVLHQSVSMSTVSAHPFRD
                     LPLGREQHCKLLPGVADIRASQVARWTVDEVAEFVQSLLGCEEHAKCFKKEQIDGKAF
                     LLLTQTDIVKVMKIKLGPALKIYNSILMFRHSQELPEEDIASGQEVRG"
     exon            274..328
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /inference="alignment:Splign:2.1.0"
     exon            329..420
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /inference="alignment:Splign:2.1.0"
     exon            421..525
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /inference="alignment:Splign:2.1.0"
     exon            526..661
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /inference="alignment:Splign:2.1.0"
     exon            662..753
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /inference="alignment:Splign:2.1.0"
     exon            754..908
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /inference="alignment:Splign:2.1.0"
     exon            909..985
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /inference="alignment:Splign:2.1.0"
     exon            986..1071
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /inference="alignment:Splign:2.1.0"
     exon            1072..1182
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /inference="alignment:Splign:2.1.0"
     exon            1183..1297
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /inference="alignment:Splign:2.1.0"
     exon            1298..1400
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /inference="alignment:Splign:2.1.0"
     exon            1401..1574
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /inference="alignment:Splign:2.1.0"
     exon            1575..1645
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /inference="alignment:Splign:2.1.0"
     exon            1646..1815
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /inference="alignment:Splign:2.1.0"
     exon            1816..1878
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /inference="alignment:Splign:2.1.0"
     exon            1879..3549
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3530..3535
                     /regulatory_class="polyA_signal_sequence"
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /note="hexamer: AATAAA"
     polyA_site      3549
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /note="major polyA site"
ORIGIN      
        1 gggcaccgcg gggcagcggc gccgcagcct gggctggcgg aacctcgcgc tccgactcgc
       61 cccccgcctg tagctcggtc ggcgttgcgg gcaggcgccg ctccgctggg gattgctatg
      121 ctatgccttg tatgactaag acctcttacc aagaatacgt gtcagaccat aaaaccactg
      181 ccaaggagtg cgggggtggc aatgaaacag cccaacagga aaaggaagct taatatggat
      241 tccaaagagc gtttggatca ggacggacgc ttggagcaag ctgaagagga aaagaagccc
      301 aaggatagca caaccccttt gagtcacgtc ccttcagcgg ctgcacaggg agcatggtct
      361 tgggagtggt acttgaaaga acagaaggct gtcgcagcac ctgttgagct gttttccaag
      421 gatcagtcct ttccagagca tgaaaatggt tttcagattg gaatgagatt agaaggcatt
      481 gatccccgac atccatcggt attctgtgtg ctttctgtag cggaggtttg tggttaccgt
      541 ctaagacttc attttgatgg ttatttaagt tgctatgatt tttggaccaa tgctggttcc
      601 cctgacattc atccagtagg atggtgtgaa aagaccaaac atgaactgca catccctaag
      661 ggttatagaa aagataaatt tgtttggatg gattacttga aggcctgcaa attgcaaaat
      721 gctccaaaga aattattcag aaacagaagt cctaatgggc caatgtctaa agaatttcag
      781 gttggaatga agctggaggc cgtggacagg aagaaccctt ccttggtgtg tgtggcgacc
      841 atagcagata ttgttgaaga tcgcttacta gtgcattttg acaactggga tgatagttac
      901 gattactggt gcgatgttaa tagcccttat gtccagccag ttggttggtg tcaggagaat
      961 ggaagaactc tgatagcacc ccaaggttat cccaatccag aaaatttttc ctggacagaa
     1021 tacctggaag ctactcaaac caatgcagtt cctgccaaag tttttaaaat gaggttgcct
     1081 catggttttc tgccaaatat gaaacttgaa gttgtggata aacggaaccc caggttaatt
     1141 cgtgttgcta cgattgtaga tgttgatgac caaagagtaa aggttcattt tgatggttgg
     1201 gaccataagt atgactactg ggtggaggca gacagccctg atatccaccc gatcggatgg
     1261 tgtgatgtca cagggcatcc actggaagtg ccacagcgaa cgaatgacct gaagatcctt
     1321 ccaggtcaag ctgtctgtcc tactcccggg tgccgaggaa taggccatat ccgtggtcca
     1381 cgttattcgg gacatcacag tgcttttggc tgcccgtatt cagacatgaa cttgaaaaag
     1441 gaggcaacac ttcacgatcg tttgagagaa caaacacagg caaatttgga atcagactct
     1501 tcacattcaa aatcaaaaag cctctgtagt ttgaacttca atggaaaaca tgaaaaggtg
     1561 aacagtcagc ccagacttgt acagcaggca aagtgtttga aaatcaaagg aaaagaagat
     1621 attgacttgg ataatctctt cagagaatac tcggtggagc aggcgcagca ggtgcttcac
     1681 cagtcagtgt ccatgtccac ggtgtcagcc cacccttttc gggaccttcc cctcggcagg
     1741 gagcaacact gcaagttgct tccaggcgtg gctgacatcc gggccagcca agtggcacgt
     1801 tggactgtgg atgaggtggc tgagtttgta cagtctcttc tgggctgtga agagcatgcc
     1861 aagtgcttta agaaagagca gatcgatggc aaagccttcc tgcttctgac acagacggac
     1921 attgtcaaag tgatgaagat caaactgggc ccagcactga agatttacaa ctctatcctg
     1981 atgttcaggc attcccagga actccctgaa gaagatattg cctcaggcca agaagtcagg
     2041 ggatgaatgg gctccctgaa cttcctctgg caccaagacc tgcgctcttt cagcaataaa
     2101 agtggagcac attaatttga tgtgaatgtc cccatggccg tatccacact gaatctggac
     2161 tttttaaagt gtctgtgatt tgtttacatg tttagaggat tttgatgact ggtccagtgc
     2221 caatgactca gaggcttagg cccatctgtg ggtttggttt acgaacattg ttatctttgg
     2281 tgggatccgc tcagctctga tttgtttgca agacagacca aagaagccca cacatccacc
     2341 tttattcttc tccgtcacca gaaaagaaac cattttccat cttacaagca taacactctc
     2401 aagtggtgaa atattagaaa agcagtgttc atgaatacat cgttaatgtt tttaccagag
     2461 caacatcgag cttggctcag atctgccatg gagcacagct agtctaagag ctagaggcct
     2521 ggtgctttca aaagacttca tgtgagattt ttgtgtactt tactcaggaa agtgtgaatc
     2581 tctaaaaaat aataataata agcacatgtt ttcatgattc attaattctc ctttttgttc
     2641 cattaaccat ttcttggttg tgctcccaag ctttcctgga gcctccacaa aggagagtag
     2701 ccaggagtaa tgagaggacg gtcaggtggg cacttccaaa agctggagag acccttctga
     2761 ggaccctcca ccatcagcgg ggcctcaggg gaccctgtcc taacactggt gtggctgctg
     2821 ggccagacgc tcacctgcac agaactcctc cctgctccca ctctgaaggg cgtttcagaa
     2881 ttgactcatt tccactgcag tctgccagaa cccctgtaat aaggagctgt gttatattac
     2941 atctggggct gtgtgcatct ttacaaatgg agacacacta ttcaaaggga agatctctaa
     3001 agtagggagc gtggtactta ttctttgttt gaaacattcc gatttgttgt caggccttat
     3061 ttgttttttg taagtgattg tatcggaggc ttaagttgtg tggaatcagt cccacagtgt
     3121 tgaaagacaa gtacctcttt tctgacactt cttactactt ttacaggtag taacagctac
     3181 aaatactctc ccagaagtgg agggacacca tttgtgggtg gggagaaaga gggagaggtt
     3241 ctatgtccac ttgcttcatt aagaatgtta aggtttaaga aagttgattc tgcttggaga
     3301 atttctcaag ctttacattt ttttttcact gaagaaaata aacaaactct aagaggtgtg
     3361 catatataac atttctttag atctttacct aaaaggaatt ttaatatatt attggttgat
     3421 gtaaattttg tttctgtgga gttttgtttg ttttgctttt tgtagactgc catgtgcaag
     3481 taaaattcct gcttctgcca tgttaaaatt ttaatatatt ttaaatgata ataaacagag
     3541 aaaacaaaa
//
