Home |
Help |
Advanced search
2024-04-24 02:46:00, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001989 1858 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens even-skipped homeobox 1 (EVX1), mRNA. ACCESSION NM_001989 VERSION NM_001989.3 GI:84043964 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 1858) AUTHORS Kalisz,M., Winzi,M., Bisgaard,H.C. and Serup,P. TITLE EVEN-SKIPPED HOMEOBOX 1 controls human ES cell differentiation by directly repressing GOOSECOID expression JOURNAL Dev. Biol. 362 (1), 94-103 (2012) PUBMED 22178155 REMARK GeneRIF: Even-skipped homeobox 1 controls human embryonic stem cell differentiation by directly repressing Goosecoid expression. REFERENCE 2 (bases 1 to 1858) AUTHORS Smith,N.L., Felix,J.F., Morrison,A.C., Demissie,S., Glazer,N.L., Loehr,L.R., Cupples,L.A., Dehghan,A., Lumley,T., Rosamond,W.D., Lieb,W., Rivadeneira,F., Bis,J.C., Folsom,A.R., Benjamin,E., Aulchenko,Y.S., Haritunians,T., Couper,D., Murabito,J., Wang,Y.A., Stricker,B.H., Gottdiener,J.S., Chang,P.P., Wang,T.J., Rice,K.M., Hofman,A., Heckbert,S.R., Fox,E.R., O'Donnell,C.J., Uitterlinden,A.G., Rotter,J.I., Willerson,J.T., Levy,D., van Duijn,C.M., Psaty,B.M., Witteman,J.C., Boerwinkle,E. and Vasan,R.S. TITLE Association of genome-wide variation with the risk of incident heart failure in adults of European and African ancestry: a prospective meta-analysis from the cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium JOURNAL Circ Cardiovasc Genet 3 (3), 256-266 (2010) PUBMED 20445134 REFERENCE 3 (bases 1 to 1858) AUTHORS Briata,P., Van De Werken,R., Airoldi,I., Ilengo,C., Di Blas,E., Boncinelli,E. and Corte,G. TITLE Transcriptional repression by the human homeobox protein EVX1 in transfected mammalian cells JOURNAL J. Biol. Chem. 270 (46), 27695-27701 (1995) PUBMED 7499236 REMARK Erratum:[J Biol Chem 1996 Aug 2;271(31):19008] REFERENCE 4 (bases 1 to 1858) AUTHORS Faiella,A., D'Esposito,M., Rambaldi,M., Acampora,D., Balsofiore,S., Stornaiuolo,A., Mallamaci,A., Migliaccio,E., Gulisano,M. and Simeone,A. TITLE Isolation and mapping of EVX1, a human homeobox gene homologous to even-skipped, localized at the 5' end of HOX1 locus on chromosome 7 JOURNAL Nucleic Acids Res. 19 (23), 6541-6545 (1991) PUBMED 1684419 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC004080.2 and X60655.1. On Dec 29, 2005 this sequence version replaced gi:24497610. Summary: This gene encodes a member of the even-skipped homeobox family characterized by the presence of a homeodomain closely related to the Drosophila even-skipped (eve) segmentation gene of the pair-rule class. The encoded protein may play an important role as a transcriptional repressor during embryogenesis. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: X60655.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025090 [ECO:0000348] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-343 AC004080.2 115915-116257 344-1717 X60655.1 86-1459 1718-1858 AC004080.2 119803-119943 FEATURES Location/Qualifiers source 1..1858 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="7" /map="7p15.2" gene 1..1858 /gene="EVX1" /note="even-skipped homeobox 1" /db_xref="GeneID:2128" /db_xref="HGNC:3506" /db_xref="HPRD:00876" /db_xref="MIM:142996" exon 1..913 /gene="EVX1" /inference="alignment:Splign:1.39.8" STS 28..252 /gene="EVX1" /standard_name="REN100951" /db_xref="UniSTS:425748" variation 68 /gene="EVX1" /replace="a" /replace="g" /db_xref="dbSNP:147290861" STS 179..704 /gene="EVX1" /standard_name="ECD13145" /db_xref="UniSTS:294176" misc_feature 199..201 /gene="EVX1" /note="upstream in-frame stop codon" STS 211..460 /gene="EVX1" /standard_name="REN100952" /db_xref="UniSTS:425749" variation 239 /gene="EVX1" /replace="a" /replace="g" /db_xref="dbSNP:115109116" variation 307..308 /gene="EVX1" /replace="" /replace="c" /db_xref="dbSNP:144213307" variation 307 /gene="EVX1" /replace="c" /replace="t" /db_xref="dbSNP:200741251" variation 311..312 /gene="EVX1" /replace="" /replace="c" /db_xref="dbSNP:71659575" variation 320 /gene="EVX1" /replace="a" /replace="g" /db_xref="dbSNP:2074399" variation 341 /gene="EVX1" /replace="a" /replace="g" /db_xref="dbSNP:76744817" STS 376..1842 /gene="EVX1" /db_xref="UniSTS:482647" STS 395..1786 /gene="EVX1" /db_xref="UniSTS:480670" STS 429..1847 /gene="EVX1" /db_xref="UniSTS:494800" variation 435 /gene="EVX1" /replace="a" /replace="g" /db_xref="dbSNP:190949069" STS 438..705 /gene="EVX1" /standard_name="REN100953" /db_xref="UniSTS:425750" variation 451 /gene="EVX1" /replace="c" /replace="t" /db_xref="dbSNP:369569472" variation 465..466 /gene="EVX1" /replace="" /replace="c" /db_xref="dbSNP:375314524" variation 486 /gene="EVX1" /replace="c" /replace="g" /db_xref="dbSNP:201433934" CDS 487..1710 /gene="EVX1" /note="eve, even-skipped homeo box homolog 1; even-skipped homeo box 1 (homolog of Drosophila); EVX-1; eve, even-skipped homeobox homolog 1" /codon_start=1 /product="homeobox even-skipped homolog protein 1" /protein_id="NP_001980.1" /db_xref="GI:4503615" /db_xref="CCDS:CCDS5413.1" /db_xref="GeneID:2128" /db_xref="HGNC:3506" /db_xref="HPRD:00876" /db_xref="MIM:142996" /translation="
MESRKDMVVFLDGGQLGTLVGKRVSNLSEAVGSPLPEPPEKMVPRGCLSPRAVPPATRERGGGGPEEEPVDGLAGSAAGPGAEPQVAGAAMLGPGPPAPSVDSLSGQGQPSSSDTESDFYEEIEVSCTPDCATGNAEYQHSKGSGSEALVGSPNGGSETPKSNGGSGGGGSQGTLACSASDQMRRYRTAFTREQIARLEKEFYRENYVSRPRRCELAAALNLPETTIKVWFQNRRMKDKRQRLAMTWPHPADPAFYTYMMSHAAAAGGLPYPFPSHLPLPYYSPVGLGAASAASAAASPFSGSLRPLDTFRVLSQPYPRPELLCAFRHPPLYPGPAHGLGASAGGPCSCLACHSGPANGLAPRAAAASDFTCASTSRSDSFLTFAPSVLSKASSVALDQREEVPLTR
"
misc_feature 1036..1212
/gene="EVX1"
/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(1036..1050,1054..1056,1105..1107,1123..1125,
1162..1164,1168..1173,1180..1185,1189..1197,1201..1206)
/gene="EVX1"
/note="DNA binding site [nucleotide binding]"
/db_xref="CDD:28970"
misc_feature order(1042..1044,1051..1053,1171..1173,1180..1185,
1192..1194)
/gene="EVX1"
/note="specific DNA base contacts [nucleotide binding];
other site"
/db_xref="CDD:28970"
variation 493
/gene="EVX1"
/replace="a"
/replace="t"
/db_xref="dbSNP:370673403"
variation 497..498
/gene="EVX1"
/replace=""
/replace="a"
/db_xref="dbSNP:35132161"
variation 534
/gene="EVX1"
/replace="a"
/replace="t"
/db_xref="dbSNP:61733923"
variation 535
/gene="EVX1"
/replace="g"
/replace="t"
/db_xref="dbSNP:147870256"
variation 541
/gene="EVX1"
/replace="c"
/replace="g"
/db_xref="dbSNP:148966856"
variation 587
/gene="EVX1"
/replace="c"
/replace="t"
/db_xref="dbSNP:143688971"
variation 694
/gene="EVX1"
/replace="a"
/replace="g"
/db_xref="dbSNP:148774441"
variation 703
/gene="EVX1"
/replace="c"
/replace="t"
/db_xref="dbSNP:183219836"
variation 817
/gene="EVX1"
/replace="a"
/replace="g"
/db_xref="dbSNP:368309805"
exon 914..1170
/gene="EVX1"
/inference="alignment:Splign:1.39.8"
variation 919
/gene="EVX1"
/replace="g"
/replace="t"
/db_xref="dbSNP:148247981"
variation 948
/gene="EVX1"
/replace="a"
/replace="c"
/db_xref="dbSNP:141244113"
variation 953
/gene="EVX1"
/replace="a"
/replace="g"
/db_xref="dbSNP:145580913"
variation 954
/gene="EVX1"
/replace="c"
/replace="g"
/db_xref="dbSNP:138158968"
variation 969
/gene="EVX1"
/replace="c"
/replace="g"
/db_xref="dbSNP:200963932"
variation 1025
/gene="EVX1"
/replace="c"
/replace="g"
/db_xref="dbSNP:200532550"
variation 1075
/gene="EVX1"
/replace="c"
/replace="g"
/db_xref="dbSNP:375461284"
variation 1097
/gene="EVX1"
/replace="a"
/replace="g"
/db_xref="dbSNP:368325052"
STS 1154..1275
/gene="EVX1"
/standard_name="ECD06689"
/db_xref="UniSTS:287749"
exon 1171..1858
/gene="EVX1"
/inference="alignment:Splign:1.39.8"
variation 1173
/gene="EVX1"
/replace="a"
/replace="g"
/db_xref="dbSNP:374970574"
variation 1204
/gene="EVX1"
/replace="a"
/replace="c"
/db_xref="dbSNP:371479285"
variation 1212
/gene="EVX1"
/replace="c"
/replace="t"
/db_xref="dbSNP:202164329"
variation 1220
/gene="EVX1"
/replace="c"
/replace="t"
/db_xref="dbSNP:367829335"
variation 1230
/gene="EVX1"
/replace="g"
/replace="t"
/db_xref="dbSNP:371979386"
variation 1242
/gene="EVX1"
/replace="a"
/replace="c"
/db_xref="dbSNP:142645206"
variation 1286
/gene="EVX1"
/replace="c"
/replace="g"
/db_xref="dbSNP:145954143"
variation 1287
/gene="EVX1"
/replace="c"
/replace="t"
/db_xref="dbSNP:376919347"
variation 1324
/gene="EVX1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200271452"
variation 1326..1327
/gene="EVX1"
/replace=""
/replace="ctgccc"
/db_xref="dbSNP:143308454"
variation 1356
/gene="EVX1"
/replace="a"
/replace="c"
/db_xref="dbSNP:114407231"
variation 1363
/gene="EVX1"
/replace="g"
/replace="t"
/db_xref="dbSNP:200743818"
variation 1395
/gene="EVX1"
/replace="g"
/replace="t"
/db_xref="dbSNP:201423153"
variation 1507
/gene="EVX1"
/replace="a"
/replace="g"
/db_xref="dbSNP:377423519"
variation 1582
/gene="EVX1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201874473"
STS 1617..1844
/gene="EVX1"
/standard_name="REN100967"
/db_xref="UniSTS:425764"
variation 1619
/gene="EVX1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201025206"
variation 1716
/gene="EVX1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200161279"
variation 1730
/gene="EVX1"
/replace="c"
/replace="t"
/db_xref="dbSNP:192704506"
variation 1732
/gene="EVX1"
/replace="g"
/replace="t"
/db_xref="dbSNP:369099868"
variation 1742
/gene="EVX1"
/replace="g"
/replace="t"
/db_xref="dbSNP:373777452"
variation 1835
/gene="EVX1"
/replace="a"
/replace="g"
/db_xref="dbSNP:149088988"
variation 1839..1840
/gene="EVX1"
/replace=""
/replace="a"
/db_xref="dbSNP:200729683"
ORIGIN
ctctgcctgggtgtctccctctctcagtgtgtgtgtctctctgtctgttttcacactctcctccccaatcgagcgaggcccacacctggcgcatcactgccgagccattagctgcgggtttcctttcatcttcgctgtggcagacgtttctatttatccacttgcgctcgccgagtggcgtcaccagcggtactgtaatgacgattgcagcaggaggatgacagcttagaaagaagagggcaatggggcttcctcccagaggcggtgcggcacagaggagcgctcgcttcacaaggtgaccctagctcccaccgccaccgccgcggtcgcggtccagaccgcgctccagcagctccgcgccctcccaggcacccggcctttctttctccctcttgcaaccaagatccgtccggccgctggagacccagggagccggggttaggaactcacttggggctttcccctcccccaccggagagccccgggatggagagccgaaaggacatggttgtgtttctggatgggggtcagcttggcactctggttggcaagagagtctcaaatttgtccgaagccgtgggcagcccgctgccggagccgcccgagaaaatggtgccccgtggttgcctgagccctcgggccgtccctccggccacccgggagcgcggcgggggaggcccggaggaggagccggtagatggactcgcaggcagcgcggcggggccgggcgccgagccccaggtagctggggcggccatgctcggcccaggacccccggccccctcagtcgacagcctctccggacaggggcaacccagtagctcggacaccgagtcggatttctatgaagaaatcgaggtgagctgcaccccggactgcgccaccgggaacgccgagtaccagcacagcaaagggtccggctccgaggcgctggtcggcagtccgaacggagggagcgagacccccaagagcaacggcggcagtggtgggggcggctcgcaaggcaccctggcgtgcagcgccagtgaccagatgcgtcgttaccgcaccgccttcacccgagagcagattgcgcggctggagaaggaattctaccgggagaactacgtatccaggccgcggagatgtgagctggcggccgccctaaacctgccggaaaccaccatcaaggtgtggttccagaaccggcgcatgaaggacaagcggcagcgcctggccatgacgtggccgcacccggcggaccccgccttctacacttacatgatgagccatgcggcggccgcgggcggcctgccctaccccttcccatcgcacctgcccctgccctactactcgccggtgggcctgggcgccgcatccgccgcctccgccgccgcctcgcccttcagcggctcgctgcgcccgctcgacacgttccgcgtgctgtcgcagccctacccgcggcccgaactgctgtgcgccttccgccacccgccgctctaccccgggcccgcgcacggactgggcgcctctgccggcggcccctgctcctgcctcgcctgtcacagcggcccggccaacgggctggcgccccgggctgccgccgcctcggacttcacctgtgcctccacctcccgctcggactccttcctcaccttcgcgccctcggtgctcagcaaggcctcctccgtcgcgctggaccagagggaggaggtgcccctcactagataaggggccgccggctggctgccggctccatgacgcccgtggggtcaccccccggccccgggactcagccagcctcgctcctcgctcctcgctcctcgcccctaggacgccaagggggaaaggagagggcggaaaaggaccagcgggatcc
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:2128 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA
GeneID:2128 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA
GeneID:2128 -> Biological process: GO:0009792 [embryo development ending in birth or egg hatching] evidence: IEA
GeneID:2128 -> Biological process: GO:0021913 [regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification] evidence: IEA
GeneID:2128 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IEA
GeneID:2128 -> Cellular component: GO:0005634 [nucleus] evidence: IEA
by
@meso_cacase at
DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.