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2019-03-25 14:49:40, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_173464               3604 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.
ACCESSION   NM_173464
VERSION     NM_173464.3  GI:158138527
KEYWORDS    RefSeq.
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 3604)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   2  (bases 1 to 3604)
  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   3  (bases 1 to 3604)
  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   4  (bases 1 to 3604)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am. J. Hum. Genet. 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 3604)
  AUTHORS   Loftus,J.C., Plow,E.F., Frelinger,A.L. III, 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
            DB455331.1, AK093255.1, AK026733.1 and CA313345.1.
            On Oct 11, 2007 this sequence version replaced gi:141801799.
            
            CCDS Note: The coding region has been updated to represent an
            alternative 3' splice pattern, resulting in a longer and distinct
            C-terminus that is better supported by available transcript and
            homology data. In addition to the three MBT repeats and the C2HC
            type zinc finger domain included in this protein, the update adds a
            SAM_1 (Sterile alpha motif) domain, which is a widespread domain in
            signaling and nuclear proteins.
            
            ##Evidence-Data-START##
            CDS exon combination :: AK093255.1 [ECO:0000331]
            RNAseq introns       :: mixed/partial sample support ERS025081,
                                    ERS025084 [ECO:0000350]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-401               DB455331.1         1-401
            402-1710            AK093255.1         361-1669
            1711-2176           AK026733.1         147-612
            2177-3420           AK026733.1         614-1857
            3421-3604           CA313345.1         1-184               c
FEATURES             Location/Qualifiers
     source          1..3604
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18p11.31"
     gene            1..3604
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /note="l(3)mbt-like 4 (Drosophila)"
                     /db_xref="GeneID:91133"
                     /db_xref="HGNC:26677"
     exon            1..111
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /inference="alignment:Splign:1.39.8"
     exon            112..170
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    133..135
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /note="upstream in-frame stop codon"
     exon            171..273
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /inference="alignment:Splign:1.39.8"
     CDS             202..2073
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /note="l(3)mbt-like protein 4; H-l(3)mbt-like protein 4"
                     /codon_start=1
                     /product="lethal(3)malignant brain tumor-like protein 4"
                     /protein_id="NP_775735.2"
                     /db_xref="GI:158138528"
                     /db_xref="CCDS:CCDS11839.2"
                     /db_xref="GeneID:91133"
                     /db_xref="HGNC:26677"
                     /translation="
MKQPNRKRKLNMDSKERLDQDGRLEQAEEEKKPKDSTTPLSHVPSAAAQGAWSWEWYLKEQKAVAAPVELFSKDQSFPEHENGFQIGMRLEGIDPRHPSVFCVLSVAEVCGYRLRLHFDGYLSCYDFWTNAGSPDIHPVGWCEKTKHELHIPKGYRKDKFVWMDYLKACKLQNAPKKLFRNRSPNGPMSKEFQVGMKLEAVDRKNPSLVCVATIADIVEDRLLVHFDNWDDSYDYWCDVNSPYVQPVGWCQENGRTLIAPQGYPNPENFSWTEYLEATQTNAVPAKVFKMRLPHGFLPNMKLEVVDKRNPRLIRVATIVDVDDQRVKVHFDGWDHKYDYWVEADSPDIHPIGWCDVTGHPLEVPQRTNDLKILPGQAVCPTPGCRGIGHIRGPRYSGHHSAFGCPYSDMNLKKEATLHDRLREQTQANLESDSSHSKSKSLCSLNFNGKHEKVNSQPRLVQQAKCLKIKGKEDIDLDNLFRVLVLHPRGLEYSVEQAQQVLHQSVSMSTVSAHPFRDLPLGREQHCKLLPGVADIRASQVARWTVDEVAEFVQSLLGCEEHAKCFKKEQIDGKAFLLLTQTDIVKVMKIKLGPALKIYNSILMFRHSQELPEEDIASGQEVRG
"
     misc_feature    355..657
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NA19.2);
                     Region: MBT 1"
     misc_feature    370..648
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /note="Present in Drosophila Scm, l(3)mbt, and vertebrate
                     SCML2; Region: MBT; smart00561"
                     /db_xref="CDD:197790"
     misc_feature    679..981
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NA19.2);
                     Region: MBT 2"
     misc_feature    691..981
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /note="Present in Drosophila Scm, l(3)mbt, and vertebrate
                     SCML2; Region: MBT; smart00561"
                     /db_xref="CDD:197790"
     misc_feature    1006..1293
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NA19.2);
                     Region: MBT 3"
     misc_feature    1018..1293
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /note="Present in Drosophila Scm, l(3)mbt, and vertebrate
                     SCML2; Region: MBT; smart00561"
                     /db_xref="CDD:197790"
     misc_feature    1336..1422
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /note="Zinc finger, C2HC type; Region: zf-C2HC; pfam01530"
                     /db_xref="CDD:201844"
     misc_feature    1819..2022
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /note="Sterile alpha motif; Region: SAM; smart00454"
                     /db_xref="CDD:197735"
     misc_feature    1819..2016
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /note="SAM domain of Scm-like-3MBT3,4 proteins of Polycomb
                     group; Region: SAM_Scm-like-3MBT3,4; cd09582"
                     /db_xref="CDD:188981"
     misc_feature    order(1906..1914,1918..1923,1930..1935,1942..1947,
                     1960..1962)
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /note="putative oligomer interface ML [polypeptide
                     binding]; other site"
                     /db_xref="CDD:188981"
     misc_feature    order(1969..1980,1984..1989,1996..1998,2005..2007)
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /note="putative oligomer interface EH [polypeptide
                     binding]; other site"
                     /db_xref="CDD:188981"
     exon            274..328
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /inference="alignment:Splign:1.39.8"
     exon            329..420
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /inference="alignment:Splign:1.39.8"
     exon            421..525
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /inference="alignment:Splign:1.39.8"
     exon            526..661
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /inference="alignment:Splign:1.39.8"
     exon            662..753
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /inference="alignment:Splign:1.39.8"
     exon            754..908
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /inference="alignment:Splign:1.39.8"
     exon            909..985
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /inference="alignment:Splign:1.39.8"
     exon            986..1071
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /inference="alignment:Splign:1.39.8"
     exon            1072..1182
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /inference="alignment:Splign:1.39.8"
     exon            1183..1297
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /inference="alignment:Splign:1.39.8"
     exon            1298..1400
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /inference="alignment:Splign:1.39.8"
     exon            1401..1574
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /inference="alignment:Splign:1.39.8"
     exon            1575..1645
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /inference="alignment:Splign:1.39.8"
     exon            1646..1672
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /inference="alignment:Splign:1.39.8"
     exon            1673..1842
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /inference="alignment:Splign:1.39.8"
     STS             1729..1846
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /standard_name="D18S936E"
                     /db_xref="UniSTS:150528"
     exon            1843..1905
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /inference="alignment:Splign:1.39.8"
     exon            1906..3587
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /inference="alignment:Splign:1.39.8"
     variation       2360
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:2298534"
     variation       2381
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:2298535"
     variation       2738
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:719153"
     variation       3209
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3745091"
     STS             3373..3494
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /standard_name="A004U39"
                     /db_xref="UniSTS:57338"
     variation       3479..3480
                     /gene="L3MBTL4"
                     /gene_synonym="HsT1031"
                     /replace=""
                     /replace="gtt"
                     /db_xref="dbSNP:3833206"
ORIGIN      
gggcaccgcggggcagcggcgccgcagcctgggctggcggaacctcgcgctccgactcgccccccgcctgtagctcggtcggcgttgcgggcaggcgccgctccgctggggattgctatgctatgccttgtatgactaagacctcttaccaagaatacgtgtcagaccataaaaccactgccaaggagtgcgggggtggcaatgaaacagcccaacaggaaaaggaagcttaatatggattccaaagagcgtttggatcaggacggacgcttggagcaagctgaagaggaaaagaagcccaaggatagcacaacccctttgagtcacgtcccttcagcggctgcacagggagcatggtcttgggagtggtacttgaaagaacagaaggctgtcgcagcacctgttgagctgttttccaaggatcagtcctttccagagcatgaaaatggttttcagattggaatgagattagaaggcattgatccccgacatccatcggtattctgtgtgctttctgtagcggaggtttgtggttaccgtctaagacttcattttgatggttatttaagttgctatgatttttggaccaatgctggttcccctgacattcatccagtaggatggtgtgaaaagaccaaacatgaactgcacatccctaagggttatagaaaagataaatttgtttggatggattacttgaaggcctgcaaattgcaaaatgctccaaagaaattattcagaaacagaagtcctaatgggccaatgtctaaagaatttcaggttggaatgaagctggaggccgtggacaggaagaacccttccttggtgtgtgtggcgaccatagcagatattgttgaagatcgcttactagtgcattttgacaactgggatgatagttacgattactggtgcgatgttaatagcccttatgtccagccagttggttggtgtcaggagaatggaagaactctgatagcaccccaaggttatcccaatccagaaaatttttcctggacagaatacctggaagctactcaaaccaatgcagttcctgccaaagtttttaaaatgaggttgcctcatggttttctgccaaatatgaaacttgaagttgtggataaacggaaccccaggttaattcgtgttgctacgattgtagatgttgatgaccaaagagtaaaggttcattttgatggttgggaccataagtatgactactgggtggaggcagacagccctgatatccacccgatcggatggtgtgatgtcacagggcatccactggaagtgccacagcgaacgaatgacctgaagatccttccaggtcaagctgtctgtcctactcccgggtgccgaggaataggccatatccgtggtccacgttattcgggacatcacagtgcttttggctgcccgtattcagacatgaacttgaaaaaggaggcaacacttcacgatcgtttgagagaacaaacacaggcaaatttggaatcagactcttcacattcaaaatcaaaaagcctctgtagtttgaacttcaatggaaaacatgaaaaggtgaacagtcagcccagacttgtacagcaggcaaagtgtttgaaaatcaaaggaaaagaagatattgacttggataatctcttcagagtgcttgtgctgcatcccagaggtttggaatactcggtggagcaggcgcagcaggtgcttcaccagtcagtgtccatgtccacggtgtcagcccacccttttcgggaccttcccctcggcagggagcaacactgcaagttgcttccaggcgtggctgacatccgggccagccaagtggcacgttggactgtggatgaggtggctgagtttgtacagtctcttctgggctgtgaagagcatgccaagtgctttaagaaagagcagatcgatggcaaagccttcctgcttctgacacagacggacattgtcaaagtgatgaagatcaaactgggcccagcactgaagatttacaactctatcctgatgttcaggcattcccaggaactccctgaagaagatattgcctcaggccaagaagtcaggggatgaatgggctccctgaacttcctctggcaccaagacctgcgctctttcagcaataaaagtggagcacattaatttgatgtgaatgtccccatggccgtatccacactgaatctggactttttaaagtgtctgtgatttgtttacatgtttagaggattttgatgactggtccagtgccaatgactcagaggcttaggcccatctgtgggtttggtttacgaacattgttatctttggtgggatccgctcagctctgatttgtttgcaagacagaccaaagaagcccacacatccacctttattcttctccgtcaccagaaaagaaaccattttccatcttacaagcataacactctcaagtggtgaaatattagaaaagcagtgttcatgaatacatcgttaatgtttttaccagagcaacatcgagcttggctcagatctgccatggagcacagctagtctaagagctagaggcctggtgctttcaaaagacttcatgtgagatttttgtgtactttactcaggaaagtgtgaatctctaaaaaataataataataagcacatgttttcatgattcattaattctcctttttgttccattaaccatttcttggttgtgctcccaagctttcctggagcctccacaaaggagagtagccaggagtaatgagaggacggtcaggtgggcacttccaaaagctggagagacccttctgaggaccctccaccatcagcggggcctcaggggaccctgtcctaacactggtgtggctgctgggccagacgctcacctgcacagaactcctccctgctcccactctgaagggcgtttcagaattgactcatttccactgcagtctgccagaacccctgtaataaggagctgtgttatattacatctggggctgtgtgcatctttacaaatggagacacactattcaaagggaagatctctaaagtagggagcgtggtacttattctttgtttgaaacattccgatttgttgtcaggccttatttgttttttgtaagtgattgtatcggaggcttaagttgtgtggaatcagtcccacagtgttgaaagacaagtacctcttttctgacacttcttactacttttacaggtagtaacagctacaaatactctcccagaagtggagggacaccatttgtgggtggggagaaagagggagaggttctatgtccacttgcttcattaagaatgttaaggtttaagaaagttgattctgcttggagaatttctcaagctttacatttttttttcactgaagaaaataaacaaactctaagaggtgtgcatatataacatttctttagatctttacctaaaaggaattttaatatattattggttgatgtaaattttgtttctgtggagttttgtttgttttgctttttgtagactgccatgtgcaagtaaaattcctgcttctgccatgttaaaattttaatatattttaaatgataataaacagagaaaacaaaatttatacctcaaaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:91133 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA
            GeneID:91133 -> Molecular function: GO:0008270 [zinc ion binding] evidence: IEA
            GeneID:91133 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA
            GeneID:91133 -> Biological process: GO:0016568 [chromatin modification] evidence: IEA
            GeneID:91133 -> Cellular component: GO:0005634 [nucleus] evidence: IEA

by @meso_cacase at DBCLS
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