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2024-04-20 02:02:46, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001244585 2471 bp mRNA linear PRI 18-APR-2013
DEFINITION Homo sapiens LUC7-like 2 (S. cerevisiae) (LUC7L2), transcript
variant 3, mRNA.
ACCESSION NM_001244585
VERSION NM_001244585.1 GI:347446677
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 2471)
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 2471)
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 2471)
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 2471)
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 AK298166.1, AC083880.5,
BC017163.2 and AU144525.2.
This sequence is a reference standard in the RefSeqGene project.
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 (3) differs in the 5' UTR, lacks a
portion of the 5' coding region and initiates translation at an
alternate start codon, compared to variant 1. The encoded isoform
(3) is shorter and has a distinct N-terminus, compared to isoform
1.
##Evidence-Data-START##
Transcript exon combination :: AK298166.1 [ECO:0000332]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-17 AK298166.1 1-17
18-18 AC083880.5 6566-6566
19-1525 AK298166.1 19-1525
1526-2468 BC017163.2 1684-2626
2469-2471 AU144525.2 1-3 c
FEATURES Location/Qualifiers
source 1..2471
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="7"
/map="7q34"
gene 1..2471
/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..159
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/inference="alignment:Splign:1.39.8"
variation 130
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="a"
/replace="t"
/db_xref="dbSNP:145110535"
variation 134
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="a"
/replace="t"
/db_xref="dbSNP:372972377"
exon 160..236
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/inference="alignment:Splign:1.39.8"
misc_feature 173..175
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/note="upstream in-frame stop codon"
CDS 185..1354
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/note="isoform 3 is encoded by transcript variant 3;
putative RNA-binding protein Luc7-like 2"
/codon_start=1
/product="putative RNA-binding protein Luc7-like 2 isoform
3"
/protein_id="NP_001231514.1"
/db_xref="GI:347446678"
/db_xref="CCDS:CCDS59085.1"
/db_xref="GeneID:51631"
/db_xref="HGNC:21608"
/db_xref="MIM:613056"
/translation="
MVIHSQLKKIQGASERMGDTTRQRIKFSDDRVCKSHLLNCCPHDVLSGTRMDLGECLKVHDLALRADYEIASKEQDFFFELDAMDHLQSFIADCDRRTEVAKKRLAETQEEISAEVAAKAERVHELNEEIGKLLAKVEQLGAEGNVEESQKVMDEVEKARAKKREAEEVYRNSMPASSFQQQKLRVCEVCSAYLGLHDNDRRLADHFGGKLHLGFIEIREKLEELKRVVAEKQEKRNQERLKRREEREREEREKLRRSRSHSKNPKRSRSREHRRHRSRSMSRERKRRTRSKSREKRHRHRSRSSSRSRSRSHQRSRHSSRDRSRERSKRRSSKERFRDQDLASCDRDRSSRDRSPRDRDRKDKKRSYESANGRSEDRRSSEEREAGEI
"
misc_feature 224..874
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/note="LUC7 N_terminus; Region: LUC7; pfam03194"
/db_xref="CDD:112027"
misc_feature 224..859
/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"
variation 205..206
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace=""
/replace="a"
/db_xref="dbSNP:374280672"
exon 237..331
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/inference="alignment:Splign:1.39.8"
variation 298
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="c"
/replace="t"
/db_xref="dbSNP:375513733"
variation 323
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="c"
/replace="t"
/db_xref="dbSNP:200028477"
exon 332..430
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/inference="alignment:Splign:1.39.8"
variation 343
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="c"
/replace="t"
/db_xref="dbSNP:373024282"
variation 425
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="c"
/replace="g"
/db_xref="dbSNP:199947447"
exon 431..541
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/inference="alignment:Splign:1.39.8"
variation 451
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="a"
/replace="g"
/db_xref="dbSNP:149194310"
variation 511
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="a"
/replace="g"
/db_xref="dbSNP:375333106"
variation 526
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="c"
/replace="t"
/db_xref="dbSNP:200254240"
exon 542..685
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/inference="alignment:Splign:1.39.8"
variation 583
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="a"
/replace="g"
/db_xref="dbSNP:374050740"
variation 601
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="a"
/replace="g"
/db_xref="dbSNP:367897069"
variation 633
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="a"
/replace="g"
/db_xref="dbSNP:371332363"
variation 667
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="a"
/replace="g"
/db_xref="dbSNP:74758604"
exon 686..862
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/inference="alignment:Splign:1.39.8"
variation 775
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="c"
/replace="t"
/db_xref="dbSNP:369638456"
variation 820
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="c"
/replace="t"
/db_xref="dbSNP:372259026"
variation 854
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="a"
/replace="g"
/db_xref="dbSNP:10254524"
exon 863..954
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/inference="alignment:Splign:1.39.8"
variation 869
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="a"
/replace="g"
/db_xref="dbSNP:376122273"
variation 895
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="c"
/replace="t"
/db_xref="dbSNP:370174686"
variation 900
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="a"
/replace="g"
/db_xref="dbSNP:185779182"
variation 919..920
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace=""
/replace="ag"
/db_xref="dbSNP:368249579"
exon 955..984
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/inference="alignment:Splign:1.39.8"
exon 985..1176
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/inference="alignment:Splign:1.39.8"
variation 1014
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="a"
/replace="g"
/db_xref="dbSNP:374143857"
variation 1020
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="a"
/replace="g"
/db_xref="dbSNP:370412964"
variation 1025
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="a"
/replace="g"
/db_xref="dbSNP:375122878"
variation 1036
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="a"
/replace="c"
/db_xref="dbSNP:118183173"
variation 1064
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="c"
/replace="t"
/db_xref="dbSNP:201414693"
variation 1130
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="a"
/replace="g"
/db_xref="dbSNP:371709833"
exon 1177..2471
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/inference="alignment:Splign:1.39.8"
variation 1193
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="g"
/replace="t"
/db_xref="dbSNP:373839579"
variation 1208
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="a"
/replace="t"
/db_xref="dbSNP:199809653"
variation 1221
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="a"
/replace="g"
/db_xref="dbSNP:200420445"
variation 1239..1240
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace=""
/replace="t"
/db_xref="dbSNP:35710618"
variation 1258
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="a"
/replace="c"
/db_xref="dbSNP:3757435"
variation 1277
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="a"
/replace="c"
/db_xref="dbSNP:202072515"
variation 1286
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="c"
/replace="t"
/db_xref="dbSNP:369829442"
variation 1291
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="c"
/replace="g"
/db_xref="dbSNP:373243009"
variation 1335
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="a"
/replace="g"
/db_xref="dbSNP:376180116"
variation 1336
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="c"
/replace="t"
/db_xref="dbSNP:370867945"
variation 1340..1341
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="cg"
/replace="gc"
/db_xref="dbSNP:34302813"
variation 1363
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="a"
/replace="g"
/db_xref="dbSNP:370523505"
variation 1392
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="c"
/replace="t"
/db_xref="dbSNP:372923022"
variation 1400
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="c"
/replace="t"
/db_xref="dbSNP:377113094"
variation 1401
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="a"
/replace="g"
/db_xref="dbSNP:370218831"
variation 1461
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="c"
/replace="t"
/db_xref="dbSNP:6951868"
variation 1628
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="a"
/replace="g"
/db_xref="dbSNP:7785408"
variation 1668
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="g"
/replace="t"
/db_xref="dbSNP:375790992"
variation 1745
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="g"
/replace="t"
/db_xref="dbSNP:189437456"
variation 1831
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1127422"
variation 1832
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="a"
/replace="g"
/db_xref="dbSNP:180785796"
variation 1928
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1127424"
variation 1957
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="a"
/replace="c"
/db_xref="dbSNP:185143772"
variation 2007
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="a"
/replace="t"
/db_xref="dbSNP:9683"
variation 2025
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="g"
/replace="t"
/db_xref="dbSNP:191308607"
variation 2137
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace=""
/replace="t"
/db_xref="dbSNP:144910314"
polyA_signal 2144..2149
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
variation 2160
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="g"
/replace="t"
/db_xref="dbSNP:202111615"
polyA_site 2162
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
variation 2165
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1127435"
variation 2168
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1127437"
variation 2171
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="a"
/replace="c"
/db_xref="dbSNP:3183420"
variation 2187
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="a"
/replace="g"
/db_xref="dbSNP:183009949"
variation 2247
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="c"
/replace="t"
/db_xref="dbSNP:186812222"
STS 2328..2452
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/standard_name="SGC30686"
/db_xref="UniSTS:83282"
variation 2349
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
/replace="g"
/replace="t"
/db_xref="dbSNP:191541492"
polyA_signal 2445..2450
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
polyA_site 2468
/gene="LUC7L2"
/gene_synonym="CGI-59; CGI-74; LUC7B2"
ORIGIN
caatttgcccagcgcgctgtgctccgcgacggcgcatgcccgcttttgcgcaggcgcggggactacggcgcaggcgcggagactattgcgcaggcaagcgcgtacgcagaagcgtgcgcgcgcccgttcaacgtccggagcatcggtgcagtttcgaggccttcacagttgttgatcacatagcatggtcatccactcacagcttaaaaaaatacagggagcatcggagagaatgggagatacaactcgtcaacgaatcaaattcagtgatgacagagtatgcaagagtcaccttctcaactgttgtcctcatgatgtcctttctggaactagaatggatcttggagaatgtctgaaagtccatgacctggctttaagagcggattatgaaattgcatccaaagaacaagattttttctttgaacttgatgccatggatcatctgcagtcattcattgcagattgtgatcgtagaacagaagtggccaagaaaagattagcagaaactcaagaagagattagtgctgaagtagcagcaaaggcagaacgtgttcatgagttaaatgaagaaattggtaaattgttagccaaggtggaacaactaggagctgaagggaatgtggaggaatcccagaaagtaatggatgaagtagagaaagcacgggcaaagaaaagagaagcagaggaagtttatcggaattctatgccagcttccagttttcagcagcagaaacttcgagtctgtgaagtctgctctgcctatttaggacttcatgataatgacagacgactggctgatcattttgggggtaaactgcacctgggatttattgaaataagagagaagcttgaagaattaaagagagtcgtagctgagaagcaggagaaaagaaaccaggaacggctgaaacgaagagaagagagagagagagaagaaagggagaagctgaggaggtcccgatcacacagcaagaatccaaaaagatccaggtccagagagcatcgcagacatcgatctcgctccatgtcacgtgaacgcaagaggagaactcgatccaaatctcgggagaaacgccatcgccacaggtcccgctccagcagccgtagccgcagccgtagccaccagagaagtcggcacagttctagagataggagcagagaacgatccaagaggagatcctcaaaagaaagattcagagaccaagacttagcatcatgtgacagagacaggagttcaagagacagatcacctcgtgacagagatcggaaagataagaagcggtcctatgagagtgctaatggcagatcagaagacaggaggagctctgaagagcgcgaagcaggggagatctaactagctgtgtacatttcttcagtccttaagcttcctacggagttacgtactattgtttagttcacagctgttcagggtgacagtgagcagatccagacaccagatccagctaggctagatgtacagtatctaacttgatctgaactgaacctgttttccttgatgatgcctaaaactacatccatagtttctggtgaacctgtaatacagttctgaaagtacagttttatataataagatgctgatctctttattctttcaagtaagagtgctagtgaacaaattgtgttacttgccttgggattttttgaacgtttgtaaaatgctgtcttcctagtccaaacagctgcagctttgggcatttttctttttaattattcttcctctgactttgtatcccttaatacctacactctccaattgtaagagaaagggggcagggaagcaatatagcttccattctaaggctgtattcccgttatgaattactagctgattacagttcagagcattgatcctggaatgtgtgctggagaaatttaaaatactggggttttttgtttaatggtgcctatttagagttggaagttgaacagctgttgcattacatacttttgcttttttattgaaattttgaaatcaaacgtcttgatttttctgttctgttgaattgctatgttcaggatgttctagggggtgggggcagggactcttttcgtaataagcacttgttttattttgtgtgtgtggagtataaaggctacacccttattgtaaaaaaataataataataaaatgaaagaaacaatcaccaccaccattattaaactgtaacttgtctagtaaattgtcactagaactatttgctgtgggcatttcctctattctgttacgtcattaacagtgccttactgtgcaaggcaccaaaggacataaatacgtacttgcaaagattccagatgagctgttcatgtgggccccttgctgactatattccagccacttcagggttgtttgtaatgaccgttatagagaagggctcgacctgcagaagaaactggggtgtttttattctcattcaacaaacccaaataaaaacagtatatgtaaccaacat
//
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
by
@meso_cacase at
DBCLS
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