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2024-04-19 16:51:18, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_005568 3431 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens LIM homeobox 1 (LHX1), mRNA. ACCESSION NM_005568 VERSION NM_005568.3 GI:314122156 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 3431) AUTHORS Mumert,M., Dubuc,A., Wu,X., Northcott,P.A., Chin,S.S., Pedone,C.A., Taylor,M.D. and Fults,D.W. TITLE Functional genomics identifies drivers of medulloblastoma dissemination JOURNAL Cancer Res. 72 (19), 4944-4953 (2012) PUBMED 22875024 REMARK GeneRIF: Data indicate that expression of ERAS, LHX1, and CCRK is increased in aggressive subgroups of medulloblastomas. REFERENCE 2 (bases 1 to 3431) AUTHORS Ledig,S., Brucker,S., Barresi,G., Schomburg,J., Rall,K. and Wieacker,P. TITLE Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome JOURNAL Hum. Reprod. 27 (9), 2872-2875 (2012) PUBMED 22740494 REMARK GeneRIF: study concludes that heterozygous mutations of LHX1 might be one cause of the Mayer-Rokitansky-Kuster-Hauser syndrome in a subgroup of patients REFERENCE 3 (bases 1 to 3431) AUTHORS Ye,L., Evans,J. and Gargett,C.E. TITLE Lim1/LIM1 is expressed in developing and adult mouse and human endometrium JOURNAL Histochem. Cell Biol. 137 (4), 527-536 (2012) PUBMED 22231913 REMARK GeneRIF: Lim1/LIM1 expression in neonatal, adult mouse and human endometrium suggesting Lim1/LIM1 may have a role in endometrial development and remodelling REFERENCE 4 (bases 1 to 3431) AUTHORS Xia,M., Zhao,H., Qin,Y., Mu,Y., Wang,J., Bian,Y., Ma,J. and Chen,Z.J. TITLE LHX1 mutation screening in 96 patients with mullerian duct abnormalities JOURNAL Fertil. Steril. 97 (3), 682-685 (2012) PUBMED 22217964 REMARK GeneRIF: Mutations in the coding regions of LHX1 may not be a common genetic etiologic factor involved in Han Chinese patients with mullerian duct abnormalities. REFERENCE 5 (bases 1 to 3431) AUTHORS Guertl,B., Senanayake,U., Nusshold,E., Leuschner,I., Mannweiler,S., Ebner,B. and Hoefler,G. TITLE Lim1, an embryonal transcription factor, is absent in multicystic renal dysplasia, but reactivated in nephroblastomas JOURNAL Pathobiology 78 (4), 210-219 (2011) PUBMED 21778788 REMARK GeneRIF: Eleven dysplastic kidneys showed no expression of LIM1. In contrast, 12 of 32 nephroblastomas showed nuclear positivity. REFERENCE 6 (bases 1 to 3431) AUTHORS Phillips,J.C. TITLE Assignment of LHX1 to human chromosome bands 17q11.2-->q12 by use of radiation hybrid mapping and somatic cell hybridization JOURNAL Cytogenet. Genome Res. 97 (1-2), 140D (2002) PUBMED 12438757 REFERENCE 7 (bases 1 to 3431) AUTHORS Lim,H.N. and Hawkins,J.R. TITLE Genetic control of gonadal differentiation JOURNAL Baillieres Clin. Endocrinol. Metab. 12 (1), 1-16 (1998) PUBMED 9890059 REMARK Review article REFERENCE 8 (bases 1 to 3431) AUTHORS Jurata,L.W., Pfaff,S.L. and Gill,G.N. TITLE The nuclear LIM domain interactor NLI mediates homo- and heterodimerization of LIM domain transcription factors JOURNAL J. Biol. Chem. 273 (6), 3152-3157 (1998) PUBMED 9452425 REFERENCE 9 (bases 1 to 3431) AUTHORS Dong,W.F., Heng,H.H., Lowsky,R., Xu,Y., DeCoteau,J.F., Shi,X.M., Tsui,L.C. and Minden,M.D. TITLE Cloning, expression, and chromosomal localization to 11p12-13 of a human LIM/HOMEOBOX gene, hLim-1 JOURNAL DNA Cell Biol. 16 (6), 671-678 (1997) PUBMED 9212161 REFERENCE 10 (bases 1 to 3431) AUTHORS Bozzi,F., Bertuzzi,S., Strina,D., Giannetto,C., Vezzoni,P. and Villa,A. TITLE The exon-intron structure of human LHX1 gene JOURNAL Biochem. Biophys. Res. Commun. 229 (2), 494-497 (1996) PUBMED 8954926 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BC020470.1, BC101674.1 and AC023315.4. On Dec 11, 2010 this sequence version replaced gi:30410784. Summary: This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor important for the development of the renal and urogenital systems. This gene is a candidate for Mayer-Rokitansky-Kuster-Hauser syndrome, a disorder characterized by anomalies in the female genital tract. [provided by RefSeq, Dec 2010]. 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. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: U14755.1, BC101674.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025084, ERS025086 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-631 BC020470.1 1-631 632-1973 BC101674.1 1-1342 1974-3431 AC023315.4 90381-91838 c FEATURES Location/Qualifiers source 1..3431 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="17" /map="17q12" gene 1..3431 /gene="LHX1" /gene_synonym="LIM-1; LIM1" /note="LIM homeobox 1" /db_xref="GeneID:3975" /db_xref="HGNC:6593" /db_xref="HPRD:09067" /db_xref="MIM:601999" exon 1..893 /gene="LHX1" /gene_synonym="LIM-1; LIM1" /inference="alignment:Splign:1.39.8" variation 105 /gene="LHX1" /gene_synonym="LIM-1; LIM1" /replace="c" /replace="g" /db_xref="dbSNP:192905708" variation 112 /gene="LHX1" /gene_synonym="LIM-1; LIM1" /replace="a" /replace="c" /db_xref="dbSNP:184511261" variation 339..340 /gene="LHX1" /gene_synonym="LIM-1; LIM1" /replace="" /replace="a" /db_xref="dbSNP:34753569" variation 341 /gene="LHX1" /gene_synonym="LIM-1; LIM1" /replace="c" /replace="t" /db_xref="dbSNP:367563768" variation 372 /gene="LHX1" /gene_synonym="LIM-1; LIM1" /replace="c" /replace="t" /db_xref="dbSNP:376505768" variation 385 /gene="LHX1" /gene_synonym="LIM-1; LIM1" /replace="g" /replace="t" /db_xref="dbSNP:371627466" variation 459 /gene="LHX1" /gene_synonym="LIM-1; LIM1" /replace="a" /replace="g" /db_xref="dbSNP:111599710" variation 505 /gene="LHX1" /gene_synonym="LIM-1; LIM1" /replace="a" /replace="g" /db_xref="dbSNP:75587965" misc_feature 520..522 /gene="LHX1" /gene_synonym="LIM-1; LIM1" /note="upstream in-frame stop codon" variation 533 /gene="LHX1" /gene_synonym="LIM-1; LIM1" /replace="c" /replace="t" /db_xref="dbSNP:71380120" variation 536 /gene="LHX1" /gene_synonym="LIM-1; LIM1" /replace="a" /replace="g" /db_xref="dbSNP:115972448" variation 631 /gene="LHX1" /gene_synonym="LIM-1; LIM1" /replace="a" /replace="g" /db_xref="dbSNP:147921409" STS 632..1973 /gene="LHX1" /gene_synonym="LIM-1; LIM1" /db_xref="UniSTS:484349" variation 685..686 /gene="LHX1" /gene_synonym="LIM-1; LIM1" /replace="" /replace="ct" /db_xref="dbSNP:147798700" variation 689 /gene="LHX1" /gene_synonym="LIM-1; LIM1" /replace="c" /replace="t" /db_xref="dbSNP:182011601" variation 695 /gene="LHX1" /gene_synonym="LIM-1; LIM1" /replace="c" /replace="t" /db_xref="dbSNP:373965589" variation 697 /gene="LHX1" /gene_synonym="LIM-1; LIM1" /replace="a" /replace="g" /db_xref="dbSNP:376080106" variation 700 /gene="LHX1" /gene_synonym="LIM-1; LIM1" /replace="c" /replace="t" /db_xref="dbSNP:200836692" CDS 724..1944 /gene="LHX1" /gene_synonym="LIM-1; LIM1" /note="LIM homeobox protein 1; homeobox protein Lim-1" /codon_start=1 /product="LIM/homeobox protein Lhx1" /protein_id="NP_005559.2" /db_xref="GI:30410785" /db_xref="CCDS:CCDS11316.1" /db_xref="GeneID:3975" /db_xref="HGNC:6593" /db_xref="HPRD:09067" /db_xref="MIM:601999" /translation="
MVHCAGCKRPILDRFLLNVLDRAWHVKCVQCCECKCNLTEKCFSREGKLYCKNDFFRCFGTKCAGCAQGISPSDLVRRARSKVFHLNCFTCMMCNKQLSTGEELYIIDENKFVCKEDYLSNSSVAKENSLHSATTGSDPSLSPDSQDPSQDDAKDSESANVSDKEAGSNENDDQNLGAKRRGPRTTIKAKQLETLKAAFAATPKPTRHIREQLAQETGLNMRVIQVWFQNRRSKERRMKQLSALGARRHAFFRSPRRMRPLVDRLEPGELIPNGPFSFYGDYQSEYYGPGGNYDFFPQGPPSSQAQTPVDLPFVPSSGPSGTPLGGLEHPLPGHHPSSEAQRFTDILAHPPGDSPSPEPSLPGPLHSMSAEVFGPSPPFSSLSVNGGASYGNHLSHPPEMNEAAVW
"
misc_feature 733..888
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/note="The first LIM domain of Lhx1 (also known as Lim1)
and Lhx5; Region: LIM1_Lhx1_Lhx5; cd09367"
/db_xref="CDD:188753"
misc_feature order(733..735,742..744,796..798,805..807,814..816,
823..825,874..876,883..885)
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/note="Zn binding site [ion binding]; other site"
/db_xref="CDD:188753"
misc_feature 910..1077
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/note="The second LIM domain of Lhx1 (also known as Lim1)
and Lhx5; Region: LIM2_Lhx1_Lhx5; cd09375"
/db_xref="CDD:188761"
misc_feature order(910..912,919..921,976..978,985..987,994..996,
1003..1005,1063..1065,1072..1074)
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/note="Zn binding site [ion binding]; other site"
/db_xref="CDD:188761"
misc_feature 1264..1440
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/note="Homeodomain; DNA binding domains involved in the
transcriptional regulation of key eukaryotic developmental
processes; may bind to DNA as monomers or as homo- and/or
heterodimers, in a sequence-specific manner; Region:
homeodomain; cd00086"
/db_xref="CDD:28970"
misc_feature order(1264..1278,1282..1284,1333..1335,1351..1353,
1390..1392,1396..1401,1408..1413,1417..1425,1429..1434)
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/note="DNA binding site [nucleotide binding]"
/db_xref="CDD:28970"
misc_feature order(1270..1272,1279..1281,1399..1401,1408..1413,
1420..1422)
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/note="specific DNA base contacts [nucleotide binding];
other site"
/db_xref="CDD:28970"
variation 738
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:142631346"
variation 783
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="g"
/replace="t"
/db_xref="dbSNP:375599044"
variation 882
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:34167802"
variation 892
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="a"
/replace="c"
/db_xref="dbSNP:35618899"
exon 894..1120
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/inference="alignment:Splign:1.39.8"
variation 894
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:199890217"
variation 935
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:202067640"
variation 952
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:181308670"
variation 1014
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:28417559"
variation 1080
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="a"
/replace="t"
/db_xref="dbSNP:144856321"
variation 1084
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200877362"
variation 1107
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:141677146"
exon 1121..1398
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/inference="alignment:Splign:1.39.8"
variation 1128
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:111571482"
variation 1139
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="a"
/replace="c"
/db_xref="dbSNP:77646323"
variation 1170
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="g"
/replace="t"
/db_xref="dbSNP:149879844"
variation 1179
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:138383061"
variation 1221
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:371390635"
variation 1240
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:201521937"
variation 1261
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:77511066"
variation 1263
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="g"
/replace="t"
/db_xref="dbSNP:374547056"
variation 1324
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:143849657"
variation 1335
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:200637129"
variation 1339
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="a"
/replace="c"
/db_xref="dbSNP:201087752"
variation 1344
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:377505639"
variation 1355
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:112680588"
exon 1399..1564
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/inference="alignment:Splign:1.39.8"
variation 1449
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:374154007"
variation 1452
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:371008313"
variation 1513
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:375450593"
variation 1539
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="a"
/replace="c"
/db_xref="dbSNP:199823149"
variation 1540
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:368764737"
variation 1541
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:371297528"
exon 1565..3431
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/inference="alignment:Splign:1.39.8"
variation 1587
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="g"
/replace="t"
/db_xref="dbSNP:372137646"
variation 1614
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="g"
/replace="t"
/db_xref="dbSNP:375453089"
variation 1625
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="a"
/replace="c"
/db_xref="dbSNP:148800710"
variation 1632
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:144896333"
variation 1643
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:147937067"
variation 1668
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:112081488"
variation 1688
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:199559106"
variation 1692
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="a"
/replace="c"
/db_xref="dbSNP:369853713"
variation 1704
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372094506"
variation 1718
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:377221498"
variation 1738
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:376663056"
variation 1743
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201825686"
STS 1748..1874
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/standard_name="RH71201"
/db_xref="UniSTS:55795"
variation 1797
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:145489633"
variation 1809
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:151062337"
variation 1821
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:75973369"
variation 1834
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:150197430"
variation 1862
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:369179293"
variation 1863
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="g"
/replace="t"
/db_xref="dbSNP:182084469"
variation 1872
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:373405460"
variation 1885
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="g"
/replace="t"
/db_xref="dbSNP:145694637"
variation 1898
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:141144953"
variation 1911
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:376578880"
variation 1920
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:371131038"
variation 1938
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:368870359"
variation 1959
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:371586697"
variation 1981
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:376713297"
variation 1991
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="a"
/replace="c"
/db_xref="dbSNP:374400056"
variation 2010
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace=""
/replace="tag"
/db_xref="dbSNP:71693251"
variation 2011..2012
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace=""
/replace="aa"
/db_xref="dbSNP:138151008"
variation 2011..2012
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace=""
/replace="aaaa"
/db_xref="dbSNP:372092253"
variation 2011
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace=""
/replace="a"
/db_xref="dbSNP:369876115"
variation 2011
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace=""
/replace="aaa"
/db_xref="dbSNP:368565148"
variation 2012
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace=""
/replace="a"
/db_xref="dbSNP:35033250"
variation 2106
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:186284263"
variation 2112
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376915562"
variation 2137
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="g"
/replace="t"
/db_xref="dbSNP:111387196"
variation 2245..2246
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace=""
/replace="g"
/db_xref="dbSNP:34300620"
variation 2294
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:190703415"
variation 2323
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="a"
/replace="t"
/db_xref="dbSNP:369194373"
variation 2352
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="a"
/replace="c"
/db_xref="dbSNP:373238595"
variation 2377
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:139582613"
variation 2474
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="g"
/replace="t"
/db_xref="dbSNP:78438539"
variation 2498
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:76334395"
variation 2667
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:73985312"
variation 2729
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:142874133"
variation 2748
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace=""
/replace="a"
/db_xref="dbSNP:35240464"
variation 2748
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace=""
/replace="aa"
/db_xref="dbSNP:372408333"
variation 2763
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace=""
/replace="a"
/replace="aa"
/db_xref="dbSNP:71159670"
variation 2771
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:73283924"
variation 2801
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:183046968"
variation 2924
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:150608271"
variation 3061
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="a"
/replace="c"
/db_xref="dbSNP:188619158"
variation 3080..3081
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace=""
/replace="a"
/db_xref="dbSNP:34618208"
variation 3081
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace=""
/replace="a"
/replace="aa"
/db_xref="dbSNP:57497669"
variation 3097..3098
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace=""
/replace="a"
/replace="aa"
/db_xref="dbSNP:57072955"
variation 3228
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="a"
/replace="c"
/db_xref="dbSNP:192772815"
variation 3256
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="a"
/replace="c"
/db_xref="dbSNP:113147497"
variation 3388
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
/replace="a"
/replace="c"
/db_xref="dbSNP:377105610"
polyA_signal 3403..3408
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
polyA_site 3428
/gene="LHX1"
/gene_synonym="LIM-1; LIM1"
ORIGIN
ccaagatcttcctcctaccctcccctctttcccttctcccgcggtcggccctcgccccctcccccaggcccagcgcgggcgctcggcgcgtccagacccgcggcgcgatgccggcagtttaggatccaaagcttctctgctccttttgttctttccttcccttttttaaaaaaagaggggggaaatcccagtggtgggcagcctggcacgcacacagtcgccctcataccccgacaaaagcagatgcactttgacttctgacagctctacctcaagccccggagaactcagcggcgctttcctcgcaacccgagctcggcgagtcgtcgtcttcttcttctccgtttttatttatttatttccgttcccgccgccgttctcgctgaccttcactcctccgcgggctctgagcagaagggtcgcattctctcccgcctgagacttcttttcctcgccccgggagctcaggcggcgccgctccagcccggggccccgggactccccggctgcacacttcactgagacgcccccccaggccccgatcagcctcgtttcctccaccctactttgatttcctggtgcgagttttggcttgcacggccgagtgtgtgtcctctttttggagagactggggagctcgtgccgattgtcttcaggagtcatcccctgggctctactttgcccctctctctctctgggcctcatcagaccaaaccaaagaccatggttcactgtgccggctgcaaaaggcccatcctggaccgctttctcttgaacgtgctggacagggcctggcacgtcaagtgcgtccagtgctgtgaatgtaaatgcaacctgaccgagaagtgcttctccagggaaggcaaactctactgcaagaacgacttcttccggtgtttcggtaccaaatgcgcaggctgcgctcagggcatctcccctagcgacctggtgcggagagcgcggagcaaagtgtttcacctgaactgcttcacctgcatgatgtgtaacaagcagctctccactggcgaggaactctacatcatcgacgagaataagttcgtctgcaaagaggattacctaagtaacagcagtgttgccaaagagaacagccttcactcggccaccacgggcagtgaccccagtttgtctccggattcccaagacccgtcgcaggacgacgccaaggactcggagagcgccaacgtgtcggacaaggaagcgggtagcaacgagaatgacgaccagaacctgggcgccaagcggcggggaccgcgcaccaccatcaaagccaagcagctggagacgctgaaggccgccttcgctgctacacccaagcccacccgccacatccgcgagcagctggcgcaggagaccggcctcaacatgcgcgtcattcaggtctggttccagaaccggcgctccaaggagcggaggatgaagcagctgagcgccctgggcgcccggcgccacgccttcttccgcagtccgcgccggatgcggccgctggtggaccgcctggagccgggcgagctcatccccaatggtcccttctccttctacggagattaccagagcgagtactacgggcccgggggcaactacgacttcttcccgcaaggccccccgtcctcgcaggcccagacaccagtggacctacccttcgtgccgtcatctgggccgtccgggacgcccctgggtggcctggagcacccgctgccgggccaccacccgtcgagcgaggcgcagcggtttaccgacatcctggcgcacccacccggggactcgcccagccccgagcccagcctgcccgggcctctgcactccatgtcggccgaggtcttcggacccagcccgcccttctcgtcgctgtcggtcaacggtggggcgagctacggaaaccacctgtcccacccccccgaaatgaacgaggcggccgtgtggtagcggggtctcgcacggtctgcggagttcgtggttgtacagaaatgaacctttatttaagaaaaatagaaaaaaaaaaaaacataaaaagcaagtccccacccccttcctccagcctcgagaaccattctccttctggggagaccggatggaaaagggggacacgaaataggatccaaatcggcctcgaggtgggactgggatccgcgcactggctgtcgacgtgcagaactggggctccccaaaggaaacgcagacctctccccaactcccacctggacccggatccgtagacagaccccgcgggcgtgtgcgcctggcaggcgggcggcgaaaagacgtccagggcagccgcgggtgcgcacagccgttggcgatgccaggagccgtggggagggaggccgtgagcacagccgggtgaaggaagtgaagcggcccagggcgctcccgggccagccaggagggttctagctctgggatatcccttattagtgttgtctcagagttcaacaacagcgacaaaaaactcttatagcttcagaaacgccgacctgccgtgcatcaggtgggactatatatatattttttgtctatctggatttttggtttttgtttttgccaaaattgcaaaattctaaatgtaaagccctccgtatcaactcttctaccttcgcaaaactacacatacacacatacacacgtacacggacacactcggtaagatggtctccagccagaccgctcagtaaaatgacttgaacatcagctgtacaagaaaagtattctaccttcacacacaaaaagttaaaaaaaaaaaaaaaagactattgaactaaaaacagtcaactgtttacgtataatgttaaattcaggagttcagtgttttactaatatatcctgttttgaaacctcttgttcgaaaacaaaatgttttgagcaatcaaccaaaattgttccttttcttttcctgtagatgttctgacagatttgcagggctttcggctcactgtgctagtatgtaaaaaggtgttgtttacacgaggcaaagagaaaacatgctattcagacagttgccaaatagaataattatagcacaaatactgtaaaggtgcctggcaccagcaacctgagaaagtgttaaaaaaaaaaaaaaaaaagtgttacaagatttaaaaaaaaacatctttgctaatttttttgtcctgttgaacattcatggaattgttaatatgacttatatagacccacacaggttttatttttgtgtctttaaaataaaagtccaaaatatttaaattttatggtcaaatatgcagtcaacagctgctactttttctttatatattaaatttctcatatgtcttttattgttctaataaacctaagcttgtgtgacctccagtgcatattagaccattcactgtatgaaagaaaacatgttgaataaatttgtgagtttttaataaaaatagaaaatctgatgtttagat
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:3975 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: ISS
GeneID:3975 -> Molecular function: GO:0003714 [transcription corepressor activity] evidence: ISS
GeneID:3975 -> Molecular function: GO:0008270 [zinc ion binding] evidence: IEA
GeneID:3975 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA
GeneID:3975 -> Biological process: GO:0001655 [urogenital system development] evidence: ISS
GeneID:3975 -> Biological process: GO:0001657 [ureteric bud development] evidence: ISS
GeneID:3975 -> Biological process: GO:0001658 [branching involved in ureteric bud morphogenesis] evidence: IEA
GeneID:3975 -> Biological process: GO:0001702 [gastrulation with mouth forming second] evidence: ISS
GeneID:3975 -> Biological process: GO:0001705 [ectoderm formation] evidence: ISS
GeneID:3975 -> Biological process: GO:0001706 [endoderm formation] evidence: ISS
GeneID:3975 -> Biological process: GO:0001822 [kidney development] evidence: ISS
GeneID:3975 -> Biological process: GO:0006366 [transcription from RNA polymerase II promoter] evidence: ISS
GeneID:3975 -> Biological process: GO:0007267 [cell-cell signaling] evidence: ISS
GeneID:3975 -> Biological process: GO:0007389 [pattern specification process] evidence: ISS
GeneID:3975 -> Biological process: GO:0007399 [nervous system development] evidence: TAS
GeneID:3975 -> Biological process: GO:0008045 [motor neuron axon guidance] evidence: ISS
GeneID:3975 -> Biological process: GO:0009653 [anatomical structure morphogenesis] evidence: ISS
GeneID:3975 -> Biological process: GO:0009791 [post-embryonic development] evidence: ISS
GeneID:3975 -> Biological process: GO:0009880 [embryonic pattern specification] evidence: ISS
GeneID:3975 -> Biological process: GO:0009887 [organ morphogenesis] evidence: TAS
GeneID:3975 -> Biological process: GO:0009948 [anterior/posterior axis specification] evidence: ISS
GeneID:3975 -> Biological process: GO:0009952 [anterior/posterior pattern specification] evidence: ISS
GeneID:3975 -> Biological process: GO:0009953 [dorsal/ventral pattern formation] evidence: ISS
GeneID:3975 -> Biological process: GO:0010468 [regulation of gene expression] evidence: ISS
GeneID:3975 -> Biological process: GO:0010842 [retina layer formation] evidence: ISS
GeneID:3975 -> Biological process: GO:0021517 [ventral spinal cord development] evidence: IEA
GeneID:3975 -> Biological process: GO:0021527 [spinal cord association neuron differentiation] evidence: ISS
GeneID:3975 -> Biological process: GO:0021537 [telencephalon development] evidence: IEA
GeneID:3975 -> Biological process: GO:0021549 [cerebellum development] evidence: ISS
GeneID:3975 -> Biological process: GO:0021702 [cerebellar Purkinje cell differentiation] evidence: ISS
GeneID:3975 -> Biological process: GO:0021871 [forebrain regionalization] evidence: ISS
GeneID:3975 -> Biological process: GO:0021937 [cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation] evidence: ISS
GeneID:3975 -> Biological process: GO:0032525 [somite rostral/caudal axis specification] evidence: IEA
GeneID:3975 -> Biological process: GO:0035502 [metanephric part of ureteric bud development] evidence: IEA
GeneID:3975 -> Biological process: GO:0035846 [oviduct epithelium development] evidence: ISS
GeneID:3975 -> Biological process: GO:0035847 [uterine epithelium development] evidence: ISS
GeneID:3975 -> Biological process: GO:0035849 [nephric duct elongation] evidence: IEA
GeneID:3975 -> Biological process: GO:0035852 [horizontal cell localization] evidence: IEA
GeneID:3975 -> Biological process: GO:0040019 [positive regulation of embryonic development] evidence: ISS
GeneID:3975 -> Biological process: GO:0044344 [cellular response to fibroblast growth factor stimulus] evidence: IEA
GeneID:3975 -> Biological process: GO:0045892 [negative regulation of transcription, DNA-dependent] evidence: ISS
GeneID:3975 -> Biological process: GO:0045893 [positive regulation of transcription, DNA-dependent] evidence: ISS
GeneID:3975 -> Biological process: GO:0048646 [anatomical structure formation involved in morphogenesis] evidence: ISS
GeneID:3975 -> Biological process: GO:0048703 [embryonic viscerocranium morphogenesis] evidence: ISS
GeneID:3975 -> Biological process: GO:0048793 [pronephros development] evidence: IEA
GeneID:3975 -> Biological process: GO:0060059 [embryonic retina morphogenesis in camera-type eye] evidence: ISS
GeneID:3975 -> Biological process: GO:0060065 [uterus development] evidence: ISS
GeneID:3975 -> Biological process: GO:0060066 [oviduct development] evidence: ISS
GeneID:3975 -> Biological process: GO:0060067 [cervix development] evidence: ISS
GeneID:3975 -> Biological process: GO:0060068 [vagina development] evidence: ISS
GeneID:3975 -> Biological process: GO:0060322 [head development] evidence: ISS
GeneID:3975 -> Biological process: GO:0060429 [epithelium development] evidence: ISS
GeneID:3975 -> Biological process: GO:0061205 [paramesonephric duct development] evidence: ISS
GeneID:3975 -> Biological process: GO:0072049 [comma-shaped body morphogenesis] evidence: ISS
GeneID:3975 -> Biological process: GO:0072050 [S-shaped body morphogenesis] evidence: ISS
GeneID:3975 -> Biological process: GO:0072077 [renal vesicle morphogenesis] evidence: ISS
GeneID:3975 -> Biological process: GO:0072177 [mesonephric duct development] evidence: IEA
GeneID:3975 -> Biological process: GO:0072178 [nephric duct morphogenesis] evidence: ISS
GeneID:3975 -> Biological process: GO:0072224 [metanephric glomerulus development] evidence: IEA
GeneID:3975 -> Biological process: GO:0072278 [metanephric comma-shaped body morphogenesis] evidence: IEA
GeneID:3975 -> Biological process: GO:0072283 [metanephric renal vesicle morphogenesis] evidence: IEA
GeneID:3975 -> Biological process: GO:0072284 [metanephric S-shaped body morphogenesis] evidence: IEA
GeneID:3975 -> Biological process: GO:0090009 [primitive streak formation] evidence: ISS
GeneID:3975 -> Biological process: GO:0090190 [positive regulation of branching involved in ureteric bud morphogenesis] evidence: ISS
GeneID:3975 -> Biological process: GO:0097477 [lateral motor column neuron migration] evidence: ISS
GeneID:3975 -> Biological process: GO:2000543 [positive regulation of gastrulation] evidence: ISS
GeneID:3975 -> Biological process: GO:2000744 [positive regulation of anterior head development] evidence: ISS
GeneID:3975 -> Biological process: GO:2000768 [positive regulation of nephron tubule epithelial cell differentiation] evidence: ISS
GeneID:3975 -> Cellular component: GO:0005634 [nucleus] evidence: ISS
GeneID:3975 -> Cellular component: GO:0043234 [protein complex] evidence: ISS
by
@meso_cacase at
DBCLS
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