2024-04-19 14:05:05, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001270643 2783 bp mRNA linear PRI 01-MAY-2013 DEFINITION Homo sapiens LUC7-like 2 (S. cerevisiae) (LUC7L2), transcript variant 4, mRNA. ACCESSION NM_001270643 VERSION NM_001270643.1 GI:397174789 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 2783) AUTHORS Webby,C.J., Wolf,A., Gromak,N., Dreger,M., Kramer,H., Kessler,B., Nielsen,M.L., Schmitz,C., Butler,D.S., Yates,J.R. III, Delahunty,C.M., Hahn,P., Lengeling,A., Mann,M., Proudfoot,N.J., Schofield,C.J. and Bottger,A. TITLE Jmjd6 catalyses lysyl-hydroxylation of U2AF65, a protein associated with RNA splicing JOURNAL Science 325 (5936), 90-93 (2009) PUBMED 19574390 REFERENCE 2 (bases 1 to 2783) AUTHORS Kwon,M.J., Oh,E., Lee,S., Roh,M.R., Kim,S.E., Lee,Y., Choi,Y.L., In,Y.H., Park,T., Koh,S.S. and Shin,Y.K. TITLE Identification of novel reference genes using multiplatform expression data and their validation for quantitative gene expression analysis JOURNAL PLoS ONE 4 (7), E6162 (2009) PUBMED 19584937 REMARK Erratum:[PLoS One. 2009;4(8). doi: 10.1371/annotation/695436c7-3329-4bdc-9832-f427ecc33698] Publication Status: Online-Only REFERENCE 3 (bases 1 to 2783) AUTHORS Howell,V.M., Jones,J.M., Bergren,S.K., Li,L., Billi,A.C., Avenarius,M.R. and Meisler,M.H. TITLE Evidence for a direct role of the disease modifier SCNM1 in splicing JOURNAL Hum. Mol. Genet. 16 (20), 2506-2516 (2007) PUBMED 17656373 REFERENCE 4 (bases 1 to 2783) AUTHORS Puig,O., Bragado-Nilsson,E., Koski,T. and Seraphin,B. TITLE The U1 snRNP-associated factor Luc7p affects 5' splice site selection in yeast and human JOURNAL Nucleic Acids Res. 35 (17), 5874-5885 (2007) PUBMED 17726058 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from HY018775.1, BC042625.1, BC017163.2 and AU144525.2. Summary: This gene encodes a protein that contains a C2H2-type zinc finger, coiled-coil region and arginine, serine-rich (RS) domain. A similar protein in mouse interacts with sodium channel modifier 1, and the encoded protein may be involved in the recognition of non-consensus splice donor sites in association with the U1 snRNP spliceosomal subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]. Transcript Variant: This variant (4) differs in its 5' UTR, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (4) is shorter and has a distinct N-terminus, compared to isoform 1. ##Evidence-Data-START## Transcript exon combination :: BC042625.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025082, ERS025084 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-66 HY018775.1 1-66 67-2477 BC042625.1 1-2411 2478-2780 BC017163.2 2324-2626 2781-2783 AU144525.2 1-3 c FEATURES Location/Qualifiers source 1..2783 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="7" /map="7q34" gene 1..2783 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /note="LUC7-like 2 (S. cerevisiae)" /db_xref="GeneID:51631" /db_xref="HGNC:21608" /db_xref="MIM:613056" exon 1..477 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /inference="alignment:Splign:1.39.8" variation 40 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="a" /replace="g" /db_xref="dbSNP:142645032" variation 89 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="c" /replace="t" /db_xref="dbSNP:191836440" variation 122 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="c" /replace="t" /db_xref="dbSNP:184226549" misc_feature 239..241 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /note="upstream in-frame stop codon" variation 300 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="g" /replace="t" /db_xref="dbSNP:3923186" variation 372 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="a" /replace="c" /db_xref="dbSNP:190082672" exon 478..548 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /inference="alignment:Splign:1.39.8" CDS 491..1666 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /note="isoform 4 is encoded by transcript variant 4; putative RNA-binding protein Luc7-like 2" /codon_start=1 /product="putative RNA-binding protein Luc7-like 2 isoform 4" /protein_id="NP_001257572.1" /db_xref="GI:397174790" /db_xref="CCDS:CCDS59510.1" /db_xref="GeneID:51631" /db_xref="HGNC:21608" /db_xref="MIM:613056" /translation="
MPAYLNLQGSVRKAPHSPSRDTTRQRIKFSDDRVCKSHLLNCCPHDVLSGTRMDLGECLKVHDLALRADYEIASKEQDFFFELDAMDHLQSFIADCDRRTEVAKKRLAETQEEISAEVAAKAERVHELNEEIGKLLAKVEQLGAEGNVEESQKVMDEVEKARAKKREAEEVYRNSMPASSFQQQKLRVCEVCSAYLGLHDNDRRLADHFGGKLHLGFIEIREKLEELKRVVAEKQEKRNQERLKRREEREREEREKLRRSRSHSKNPKRSRSREHRRHRSRSMSRERKRRTRSKSREKRHRHRSRSSSRSRSRSHQRSRHSSRDRSRERSKRRSSKERFRDQDLASCDRDRSSRDRSPRDRDRKDKKRSYESANGRSEDRRSSEEREAGEI
" misc_feature 542..1171 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /note="U1 snRNP component, mediates U1 snRNP association with cap-binding complex [RNA processing and modification]; Region: LUC7; COG5200" /db_xref="CDD:34799" misc_feature 551..1186 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /note="LUC7 N_terminus; Region: LUC7; pfam03194" /db_xref="CDD:112027" exon 549..643 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /inference="alignment:Splign:1.39.8" variation 610 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="c" /replace="t" /db_xref="dbSNP:375513733" variation 635 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="c" /replace="t" /db_xref="dbSNP:200028477" exon 644..742 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /inference="alignment:Splign:1.39.8" variation 655 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="c" /replace="t" /db_xref="dbSNP:373024282" variation 737 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="c" /replace="g" /db_xref="dbSNP:199947447" exon 743..853 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /inference="alignment:Splign:1.39.8" variation 763 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="a" /replace="g" /db_xref="dbSNP:149194310" variation 823 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="a" /replace="g" /db_xref="dbSNP:375333106" variation 838 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="c" /replace="t" /db_xref="dbSNP:200254240" exon 854..997 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /inference="alignment:Splign:1.39.8" variation 895 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="a" /replace="g" /db_xref="dbSNP:374050740" variation 913 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="a" /replace="g" /db_xref="dbSNP:367897069" variation 945 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="a" /replace="g" /db_xref="dbSNP:371332363" variation 979 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="a" /replace="g" /db_xref="dbSNP:74758604" exon 998..1174 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /inference="alignment:Splign:1.39.8" variation 1087 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="c" /replace="t" /db_xref="dbSNP:369638456" variation 1132 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="c" /replace="t" /db_xref="dbSNP:372259026" variation 1166 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="a" /replace="g" /db_xref="dbSNP:10254524" exon 1175..1266 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /inference="alignment:Splign:1.39.8" variation 1181 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="a" /replace="g" /db_xref="dbSNP:376122273" variation 1207 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="c" /replace="t" /db_xref="dbSNP:370174686" variation 1212 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="a" /replace="g" /db_xref="dbSNP:185779182" variation 1231..1232 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="" /replace="ag" /db_xref="dbSNP:368249579" exon 1267..1296 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /inference="alignment:Splign:1.39.8" exon 1297..1488 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /inference="alignment:Splign:1.39.8" variation 1326 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="a" /replace="g" /db_xref="dbSNP:374143857" variation 1332 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="a" /replace="g" /db_xref="dbSNP:370412964" variation 1337 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="a" /replace="g" /db_xref="dbSNP:375122878" variation 1348 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="a" /replace="c" /db_xref="dbSNP:118183173" variation 1376 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="c" /replace="t" /db_xref="dbSNP:201414693" variation 1442 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="a" /replace="g" /db_xref="dbSNP:371709833" exon 1489..2783 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /inference="alignment:Splign:1.39.8" variation 1505 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="g" /replace="t" /db_xref="dbSNP:373839579" variation 1520 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="a" /replace="t" /db_xref="dbSNP:199809653" variation 1533 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="a" /replace="g" /db_xref="dbSNP:200420445" variation 1551..1552 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="" /replace="t" /db_xref="dbSNP:35710618" variation 1570 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="a" /replace="c" /db_xref="dbSNP:3757435" variation 1589 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="a" /replace="c" /db_xref="dbSNP:202072515" variation 1598 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="c" /replace="t" /db_xref="dbSNP:369829442" variation 1603 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="c" /replace="g" /db_xref="dbSNP:373243009" variation 1647 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="a" /replace="g" /db_xref="dbSNP:376180116" variation 1648 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="c" /replace="t" /db_xref="dbSNP:370867945" variation 1652..1653 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="cg" /replace="gc" /db_xref="dbSNP:34302813" variation 1675 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="a" /replace="g" /db_xref="dbSNP:370523505" variation 1704 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="c" /replace="t" /db_xref="dbSNP:372923022" variation 1712 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="c" /replace="t" /db_xref="dbSNP:377113094" variation 1713 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="a" /replace="g" /db_xref="dbSNP:370218831" variation 1773 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="c" /replace="t" /db_xref="dbSNP:6951868" variation 1940 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="a" /replace="g" /db_xref="dbSNP:7785408" variation 1980 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="g" /replace="t" /db_xref="dbSNP:375790992" variation 2057 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="g" /replace="t" /db_xref="dbSNP:189437456" variation 2143 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="c" /replace="t" /db_xref="dbSNP:1127422" variation 2144 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="a" /replace="g" /db_xref="dbSNP:180785796" variation 2240 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="a" /replace="g" /db_xref="dbSNP:1127424" variation 2269 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="a" /replace="c" /db_xref="dbSNP:185143772" variation 2319 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="a" /replace="t" /db_xref="dbSNP:9683" variation 2337 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="g" /replace="t" /db_xref="dbSNP:191308607" variation 2449 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="" /replace="t" /db_xref="dbSNP:144910314" polyA_signal 2456..2461 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" variation 2472 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="g" /replace="t" /db_xref="dbSNP:202111615" polyA_site 2474 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" variation 2477 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="a" /replace="c" /db_xref="dbSNP:1127435" variation 2480 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="a" /replace="c" /db_xref="dbSNP:1127437" variation 2483 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="a" /replace="c" /db_xref="dbSNP:3183420" variation 2499 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="a" /replace="g" /db_xref="dbSNP:183009949" variation 2559 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="c" /replace="t" /db_xref="dbSNP:186812222" STS 2640..2764 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /standard_name="SGC30686" /db_xref="UniSTS:83282" variation 2661 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" /replace="g" /replace="t" /db_xref="dbSNP:191541492" polyA_signal 2757..2762 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" polyA_site 2780 /gene="LUC7L2" /gene_synonym="CGI-59; CGI-74; LUC7B2" ORIGIN
agttggtggagcccccgcgggaaacgactgagcgcgaggagcgtgcgcgctcccgtcgtggcgacggtggcggcgagcggcgtcagagcttgagggggggttgacggcttctggcgggtggcggtgttgaaggcgagagcttgcttggcccgtgtcgcttctgtcccaagaaccggacggagagtgagggcacgagggtcgctgtcgggggctgtcgtcttccacgtacacgtcgtcgtgaggagcgcagtccggactcttcccgcaacccctccggctccctttccgcacgcctcgaggcggcggcggccaccgagacagcagcgcaccttcccccatcccttccccttatcccccagcccaaaagggcccggtctgcgccccacccccgcccgtccgcccgctacgccgccgccatgtcggcgcaggcccagatgcgcgcgatgctggaccagttgatgggcacctcccgggacggttcaatgtatctatgcctgcctacctcaatctgcaagggagtgtcagaaaggccccgcattcgccaagccgagatacaactcgtcaacgaatcaaattcagtgatgacagagtatgcaagagtcaccttctcaactgttgtcctcatgatgtcctttctggaactagaatggatcttggagaatgtctgaaagtccatgacctggctttaagagcggattatgaaattgcatccaaagaacaagattttttctttgaacttgatgccatggatcatctgcagtcattcattgcagattgtgatcgtagaacagaagtggccaagaaaagattagcagaaactcaagaagagattagtgctgaagtagcagcaaaggcagaacgtgttcatgagttaaatgaagaaattggtaaattgttagccaaggtggaacaactaggagctgaagggaatgtggaggaatcccagaaagtaatggatgaagtagagaaagcacgggcaaagaaaagagaagcagaggaagtttatcggaattctatgccagcttccagttttcagcagcagaaacttcgagtctgtgaagtctgctctgcctatttaggacttcatgataatgacagacgactggctgatcattttgggggtaaactgcacctgggatttattgaaataagagagaagcttgaagaattaaagagagtcgtagctgagaagcaggagaaaagaaaccaggaacggctgaaacgaagagaagagagagagagagaagaaagggagaagctgaggaggtcccgatcacacagcaagaatccaaaaagatccaggtccagagagcatcgcagacatcgatctcgctccatgtcacgtgaacgcaagaggagaactcgatccaaatctcgggagaaacgccatcgccacaggtcccgctccagcagccgtagccgcagccgtagccaccagagaagtcggcacagttctagagataggagcagagaacgatccaagaggagatcctcaaaagaaagattcagagaccaagacttagcatcatgtgacagagacaggagttcaagagacagatcacctcgtgacagagatcggaaagataagaagcggtcctatgagagtgctaatggcagatcagaagacaggaggagctctgaagagcgcgaagcaggggagatctaactagctgtgtacatttcttcagtccttaagcttcctacggagttacgtactattgtttagttcacagctgttcagggtgacagtgagcagatccagacaccagatccagctaggctagatgtacagtatctaacttgatctgaactgaacctgttttccttgatgatgcctaaaactacatccatagtttctggtgaacctgtaatacagttctgaaagtacagttttatataataagatgctgatctctttattctttcaagtaagagtgctagtgaacaaattgtgttacttgccttgggattttttgaacgtttgtaaaatgctgtcttcctagtccaaacagctgcagctttgggcatttttctttttaattattcttcctctgactttgtatcccttaatacctacactctccaattgtaagagaaagggggcagggaagcaatatagcttccattctaaggctgtattcccgttatgaattactagctgattacagttcagagcattgatcctggaatgtgtgctggagaaatttaaaatactggggttttttgtttaatggtgcctatttagagttggaagttgaacagctgttgcattacatacttttgcttttttattgaaattttgaaatcaaacgtcttgatttttctgttctgttgaattgctatgttcaggatgttctagggggtgggggcagggactcttttcgtaataagcacttgttttattttgtgtgtgtggagtataaaggctacacccttattgtaaaaaaataataataataaaatgaaagaaacaatcaccaccaccattattaaactgtaacttgtctagtaaattgtcactagaactatttgctgtgggcatttcctctattctgttacgtcattaacagtgccttactgtgcaaggcaccaaaggacataaatacgtacttgcaaagattccagatgagctgttcatgtgggccccttgctgactatattccagccacttcagggttgtttgtaatgaccgttatagagaagggctcgacctgcagaagaaactggggtgtttttattctcattcaacaaacccaaataaaaacagtatatgtaaccaacat
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:51631 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:51631 -> Molecular function: GO:0019899 [enzyme binding] evidence: IPI GeneID:51631 -> Cellular component: GO:0016607 [nuclear speck] evidence: IEA
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