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2025-05-09 18:33:15, 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 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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