2025-05-09 20:31:41, GGRNA : RefSeq release 60 (20130726)
LOCUS NR_038198 1646 bp RNA linear PRI 16-JUL-2013 DEFINITION Homo sapiens pre-B-cell leukemia homeobox 4 (PBX4), transcript variant 2, non-coding RNA. ACCESSION NR_038198 VERSION NR_038198.1 GI:333108278 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 1646) AUTHORS Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K., Gibbs,R.A. and Butte,N.F. TITLE Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population JOURNAL PLoS ONE 7 (12), E51954 (2012) PUBMED 23251661 REFERENCE 2 (bases 1 to 1646) AUTHORS Yan,T.T., Yin,R.X., Li,Q., Huang,P., Zeng,X.N., Huang,K.K., Aung,L.H., Wu,D.F., Liu,C.W. and Pan,S.L. TITLE Sex-specific association of rs16996148 SNP in the NCAN/CILP2/PBX4 and serum lipid levels in the Mulao and Han populations JOURNAL Lipids Health Dis 10, 248 (2011) PUBMED 22208664 REMARK GeneRIF: Sex (male)-specific association of rs16996148 SNP in the NCAN/CILP2/PBX4 and serum lipid levels is observed both the Mulao and Han ethnic groups. Publication Status: Online-Only REFERENCE 3 (bases 1 to 1646) AUTHORS Rosales-Avina,J.A., Torres-Flores,J., Aguilar-Lemarroy,A., Gurrola-Diaz,C., Hernandez-Flores,G., Ortiz-Lazareno,P.C., Lerma-Diaz,J.M., de Celis,R., Gonzalez-Ramella,O., Barrera-Chaires,E., Bravo-Cuellar,A. and Jave-Suarez,L.F. TITLE MEIS1, PREP1, and PBX4 are differentially expressed in acute lymphoblastic leukemia: association of MEIS1 expression with higher proliferation and chemotherapy resistance JOURNAL J. Exp. Clin. Cancer Res. 30, 112 (2011) PUBMED 22185299 REMARK GeneRIF: up-regulation of PREP1 and PBX genes could be implicated in the modulation of the cellular response to chemotherapeutic-induced apoptosis. Publication Status: Online-Only REFERENCE 4 (bases 1 to 1646) AUTHORS Teslovich,T.M., Musunuru,K., Smith,A.V., Edmondson,A.C., Stylianou,I.M., Koseki,M., Pirruccello,J.P., Ripatti,S., Chasman,D.I., Willer,C.J., Johansen,C.T., Fouchier,S.W., Isaacs,A., Peloso,G.M., Barbalic,M., Ricketts,S.L., Bis,J.C., Aulchenko,Y.S., Thorleifsson,G., Feitosa,M.F., Chambers,J., Orho-Melander,M., Melander,O., Johnson,T., Li,X., Guo,X., Li,M., Shin Cho,Y., Jin Go,M., Jin Kim,Y., Lee,J.Y., Park,T., Kim,K., Sim,X., Twee-Hee Ong,R., Croteau-Chonka,D.C., Lange,L.A., Smith,J.D., Song,K., Hua Zhao,J., Yuan,X., Luan,J., Lamina,C., Ziegler,A., Zhang,W., Zee,R.Y., Wright,A.F., Witteman,J.C., Wilson,J.F., Willemsen,G., Wichmann,H.E., Whitfield,J.B., Waterworth,D.M., Wareham,N.J., Waeber,G., Vollenweider,P., Voight,B.F., Vitart,V., Uitterlinden,A.G., Uda,M., Tuomilehto,J., Thompson,J.R., Tanaka,T., Surakka,I., Stringham,H.M., Spector,T.D., Soranzo,N., Smit,J.H., Sinisalo,J., Silander,K., Sijbrands,E.J., Scuteri,A., Scott,J., Schlessinger,D., Sanna,S., Salomaa,V., Saharinen,J., Sabatti,C., Ruokonen,A., Rudan,I., Rose,L.M., Roberts,R., Rieder,M., Psaty,B.M., Pramstaller,P.P., Pichler,I., Perola,M., Penninx,B.W., Pedersen,N.L., Pattaro,C., Parker,A.N., Pare,G., Oostra,B.A., O'Donnell,C.J., Nieminen,M.S., Nickerson,D.A., Montgomery,G.W., Meitinger,T., McPherson,R., McCarthy,M.I., McArdle,W., Masson,D., Martin,N.G., Marroni,F., Mangino,M., Magnusson,P.K., Lucas,G., Luben,R., Loos,R.J., Lokki,M.L., Lettre,G., Langenberg,C., Launer,L.J., Lakatta,E.G., Laaksonen,R., Kyvik,K.O., Kronenberg,F., Konig,I.R., Khaw,K.T., Kaprio,J., Kaplan,L.M., Johansson,A., Jarvelin,M.R., Janssens,A.C., Ingelsson,E., Igl,W., Kees Hovingh,G., Hottenga,J.J., Hofman,A., Hicks,A.A., Hengstenberg,C., Heid,I.M., Hayward,C., Havulinna,A.S., Hastie,N.D., Harris,T.B., Haritunians,T., Hall,A.S., Gyllensten,U., Guiducci,C., Groop,L.C., Gonzalez,E., Gieger,C., Freimer,N.B., Ferrucci,L., Erdmann,J., Elliott,P., Ejebe,K.G., Doring,A., Dominiczak,A.F., Demissie,S., Deloukas,P., de Geus,E.J., de Faire,U., Crawford,G., Collins,F.S., Chen,Y.D., Caulfield,M.J., Campbell,H., Burtt,N.P., Bonnycastle,L.L., Boomsma,D.I., Boekholdt,S.M., Bergman,R.N., Barroso,I., Bandinelli,S., Ballantyne,C.M., Assimes,T.L., Quertermous,T., Altshuler,D., Seielstad,M., Wong,T.Y., Tai,E.S., Feranil,A.B., Kuzawa,C.W., Adair,L.S., Taylor,H.A. Jr., Borecki,I.B., Gabriel,S.B., Wilson,J.G., Holm,H., Thorsteinsdottir,U., Gudnason,V., Krauss,R.M., Mohlke,K.L., Ordovas,J.M., Munroe,P.B., Kooner,J.S., Tall,A.R., Hegele,R.A., Kastelein,J.J., Schadt,E.E., Rotter,J.I., Boerwinkle,E., Strachan,D.P., Mooser,V., Stefansson,K., Reilly,M.P., Samani,N.J., Schunkert,H., Cupples,L.A., Sandhu,M.S., Ridker,P.M., Rader,D.J., van Duijn,C.M., Peltonen,L., Abecasis,G.R., Boehnke,M. and Kathiresan,S. TITLE Biological, clinical and population relevance of 95 loci for blood lipids JOURNAL Nature 466 (7307), 707-713 (2010) PUBMED 20686565 REFERENCE 5 (bases 1 to 1646) AUTHORS Tai,E.S., Sim,X.L., Ong,T.H., Wong,T.Y., Saw,S.M., Aung,T., Kathiresan,S., Orho-Melander,M., Ordovas,J.M., Tan,J.T. and Seielstad,M. TITLE Polymorphisms at newly identified lipid-associated loci are associated with blood lipids and cardiovascular disease in an Asian Malay population JOURNAL J. Lipid Res. 50 (3), 514-520 (2009) PUBMED 18987386 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 6 (bases 1 to 1646) AUTHORS Kathiresan,S., Melander,O., Guiducci,C., Surti,A., Burtt,N.P., Rieder,M.J., Cooper,G.M., Roos,C., Voight,B.F., Havulinna,A.S., Wahlstrand,B., Hedner,T., Corella,D., Tai,E.S., Ordovas,J.M., Berglund,G., Vartiainen,E., Jousilahti,P., Hedblad,B., Taskinen,M.R., Newton-Cheh,C., Salomaa,V., Peltonen,L., Groop,L., Altshuler,D.M. and Orho-Melander,M. TITLE Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans JOURNAL Nat. Genet. 40 (2), 189-197 (2008) PUBMED 18193044 REMARK GeneRIF: Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) Erratum:[Nat Genet. 2008 Nov;40(11):1384] REFERENCE 7 (bases 1 to 1646) AUTHORS Laurent,A., Bihan,R., Omilli,F., Deschamps,S. and Pellerin,I. TITLE PBX proteins: much more than Hox cofactors JOURNAL Int. J. Dev. Biol. 52 (1), 9-20 (2008) PUBMED 18033668 REMARK Review article REFERENCE 8 (bases 1 to 1646) AUTHORS Wagner,K., Mincheva,A., Korn,B., Lichter,P. and Popperl,H. TITLE Pbx4, a new Pbx family member on mouse chromosome 8, is expressed during spermatogenesis JOURNAL Mech. Dev. 103 (1-2), 127-131 (2001) PUBMED 11335119 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC002306.1, BC143588.1, AK097427.1 and CK300861.1. Summary: This gene encodes a member of the pre-B cell leukemia transcription factor family. These proteins are homeobox proteins that play critical roles in embryonic development and cellular differentiation both as Hox cofactors and through Hox-independent pathways. The encoded protein contains a homeobox DNA-binding domain, but specific functions of the protein have not been determined. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2011]. Transcript Variant: This variant (2) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD). 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. COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-224 AC002306.1 29662-29885 c 225-1347 BC143588.1 1-1123 1348-1621 AK097427.1 1186-1459 1622-1646 CK300861.1 1-25 c FEATURES Location/Qualifiers source 1..1646 /organism="Homo sapiens" /mol_type="transcribed RNA" /db_xref="taxon:9606" /chromosome="19" /map="19p12" gene 1..1646 /gene="PBX4" /note="pre-B-cell leukemia homeobox 4" /db_xref="GeneID:80714" /db_xref="HGNC:13403" /db_xref="MIM:608127" misc_RNA 1..1646 /gene="PBX4" /product="pre-B-cell leukemia homeobox 4, transcript variant 2" /db_xref="GeneID:80714" /db_xref="HGNC:13403" /db_xref="MIM:608127" exon 1..406 /gene="PBX4" /inference="alignment:Splign:1.39.8" variation complement(42) /gene="PBX4" /replace="c" /replace="t" /db_xref="dbSNP:76080803" variation complement(50) /gene="PBX4" /replace="a" /replace="g" /db_xref="dbSNP:189130488" variation complement(176) /gene="PBX4" /replace="a" /replace="g" /db_xref="dbSNP:12983838" variation complement(181) /gene="PBX4" /replace="g" /replace="t" /db_xref="dbSNP:181371144" variation complement(283) /gene="PBX4" /replace="c" /replace="g" /db_xref="dbSNP:112396932" misc_feature 288..638 /gene="PBX4" /inference="COORDINATES: alignment:Blast2seq::RefSeq|NM_025245.2" /note="primary ORF has stop codon >50 nucleotides from the terminal splice site; nonsense-mediated decay (NMD) candidate" variation complement(303) /gene="PBX4" /replace="c" /replace="t" /db_xref="dbSNP:375518457" variation complement(351) /gene="PBX4" /replace="a" /replace="g" /db_xref="dbSNP:370270980" exon 407..480 /gene="PBX4" /inference="alignment:Splign:1.39.8" variation complement(416) /gene="PBX4" /replace="c" /replace="t" /db_xref="dbSNP:191905542" variation complement(429) /gene="PBX4" /replace="a" /replace="c" /db_xref="dbSNP:151162080" variation complement(450) /gene="PBX4" /replace="a" /replace="t" /db_xref="dbSNP:377677809" variation complement(452) /gene="PBX4" /replace="c" /replace="t" /db_xref="dbSNP:375684730" exon 481..627 /gene="PBX4" /inference="alignment:Splign:1.39.8" variation complement(488) /gene="PBX4" /replace="c" /replace="g" /db_xref="dbSNP:148760242" variation complement(498) /gene="PBX4" /replace="a" /replace="g" /db_xref="dbSNP:202136740" variation complement(507) /gene="PBX4" /replace="a" /replace="g" /db_xref="dbSNP:147300531" variation complement(511) /gene="PBX4" /replace="a" /replace="t" /db_xref="dbSNP:144094318" variation complement(513) /gene="PBX4" /replace="c" /replace="t" /db_xref="dbSNP:151268425" variation complement(515) /gene="PBX4" /replace="c" /replace="g" /db_xref="dbSNP:377023999" variation complement(521) /gene="PBX4" /replace="c" /replace="t" /db_xref="dbSNP:112528821" variation complement(539) /gene="PBX4" /replace="a" /replace="g" /db_xref="dbSNP:200752601" variation complement(563) /gene="PBX4" /replace="c" /replace="t" /db_xref="dbSNP:140225945" variation complement(570) /gene="PBX4" /replace="a" /replace="g" /db_xref="dbSNP:375963844" variation complement(598) /gene="PBX4" /replace="c" /replace="t" /db_xref="dbSNP:372958240" variation complement(605) /gene="PBX4" /replace="c" /replace="t" /db_xref="dbSNP:369260221" exon 628..818 /gene="PBX4" /inference="alignment:Splign:1.39.8" variation complement(647) /gene="PBX4" /replace="c" /replace="t" /db_xref="dbSNP:113788698" variation complement(652) /gene="PBX4" /replace="a" /replace="g" /db_xref="dbSNP:201625234" variation complement(659) /gene="PBX4" /replace="a" /replace="g" /db_xref="dbSNP:149342353" variation complement(660) /gene="PBX4" /replace="c" /replace="t" /db_xref="dbSNP:200663780" variation complement(664) /gene="PBX4" /replace="c" /replace="t" /db_xref="dbSNP:375549686" variation complement(690) /gene="PBX4" /replace="c" /replace="t" /db_xref="dbSNP:8108088" variation complement(691) /gene="PBX4" /replace="a" /replace="g" /db_xref="dbSNP:8108180" variation complement(709) /gene="PBX4" /replace="a" /replace="g" /db_xref="dbSNP:370646681" variation complement(713) /gene="PBX4" /replace="a" /replace="g" /db_xref="dbSNP:370844553" variation complement(715) /gene="PBX4" /replace="a" /replace="g" /db_xref="dbSNP:8108981" variation complement(723) /gene="PBX4" /replace="c" /replace="t" /db_xref="dbSNP:150208525" variation complement(732) /gene="PBX4" /replace="c" /replace="t" /db_xref="dbSNP:141893181" variation complement(734) /gene="PBX4" /replace="a" /replace="g" /db_xref="dbSNP:374756898" variation complement(745) /gene="PBX4" /replace="a" /replace="g" /db_xref="dbSNP:370372588" variation complement(758) /gene="PBX4" /replace="a" /replace="g" /db_xref="dbSNP:148245498" variation complement(782) /gene="PBX4" /replace="c" /replace="g" /db_xref="dbSNP:375600193" variation complement(797) /gene="PBX4" /replace="a" /replace="g" /db_xref="dbSNP:372535392" variation complement(802) /gene="PBX4" /replace="c" /replace="t" /db_xref="dbSNP:144820446" exon 819..954 /gene="PBX4" /inference="alignment:Splign:1.39.8" variation complement(824) /gene="PBX4" /replace="a" /replace="g" /db_xref="dbSNP:369430064" variation complement(830) /gene="PBX4" /replace="a" /replace="g" /db_xref="dbSNP:35516996" variation complement(848) /gene="PBX4" /replace="c" /replace="t" /db_xref="dbSNP:199673541" variation complement(863) /gene="PBX4" /replace="a" /replace="g" /db_xref="dbSNP:200360885" variation complement(870) /gene="PBX4" /replace="a" /replace="t" /db_xref="dbSNP:75799973" variation complement(876) /gene="PBX4" /replace="c" /replace="t" /db_xref="dbSNP:371731150" variation complement(916) /gene="PBX4" /replace="c" /replace="g" /db_xref="dbSNP:367886261" variation complement(925) /gene="PBX4" /replace="a" /replace="g" /db_xref="dbSNP:201537948" variation complement(930) /gene="PBX4" /replace="a" /replace="g" /db_xref="dbSNP:145584999" variation complement(937) /gene="PBX4" /replace="a" /replace="g" /db_xref="dbSNP:200171479" variation complement(940) /gene="PBX4" /replace="c" /replace="t" /db_xref="dbSNP:372436008" exon 955..1111 /gene="PBX4" /inference="alignment:Splign:1.39.8" variation complement(963) /gene="PBX4" /replace="c" /replace="t" /db_xref="dbSNP:371142377" variation complement(980) /gene="PBX4" /replace="a" /replace="g" /db_xref="dbSNP:62137777" variation complement(984) /gene="PBX4" /replace="a" /replace="c" /db_xref="dbSNP:114083358" variation complement(986) /gene="PBX4" /replace="a" /replace="g" /db_xref="dbSNP:148814820" variation complement(1034) /gene="PBX4" /replace="c" /replace="t" /db_xref="dbSNP:376647012" variation complement(1035) /gene="PBX4" /replace="a" /replace="g" /db_xref="dbSNP:145467560" variation complement(1044) /gene="PBX4" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:200643734" variation complement(1056) /gene="PBX4" /replace="c" /replace="t" /db_xref="dbSNP:149681009" variation complement(1058) /gene="PBX4" /replace="c" /replace="t" /db_xref="dbSNP:139542458" variation complement(1059) /gene="PBX4" /replace="a" /replace="g" /db_xref="dbSNP:147715000" variation complement(1080) /gene="PBX4" /replace="c" /replace="t" /db_xref="dbSNP:369823420" variation complement(1083) /gene="PBX4" /replace="c" /replace="t" /db_xref="dbSNP:377739787" variation complement(1084) /gene="PBX4" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:116791423" variation complement(1110) /gene="PBX4" /replace="c" /replace="t" /db_xref="dbSNP:201219684" exon 1112..1218 /gene="PBX4" /inference="alignment:Splign:1.39.8" variation complement(1131) /gene="PBX4" /replace="a" /replace="g" /db_xref="dbSNP:372278117" variation complement(1141) /gene="PBX4" /replace="a" /replace="g" /db_xref="dbSNP:368764630" variation complement(1146) /gene="PBX4" /replace="a" /replace="g" /db_xref="dbSNP:374485381" variation complement(1150) /gene="PBX4" /replace="a" /replace="g" /db_xref="dbSNP:370342583" variation complement(1166) /gene="PBX4" /replace="a" /replace="g" /db_xref="dbSNP:141765874" variation complement(1186) /gene="PBX4" /replace="c" /replace="t" /db_xref="dbSNP:199666197" exon 1219..1629 /gene="PBX4" /inference="alignment:Splign:1.39.8" variation complement(1236) /gene="PBX4" /replace="c" /replace="g" /db_xref="dbSNP:377365977" variation complement(1252) /gene="PBX4" /replace="c" /replace="g" /db_xref="dbSNP:35913871" variation complement(1258) /gene="PBX4" /replace="a" /replace="g" /db_xref="dbSNP:374029974" variation complement(1303) /gene="PBX4" /replace="c" /replace="t" /db_xref="dbSNP:376094794" variation complement(1315) /gene="PBX4" /replace="c" /replace="t" /db_xref="dbSNP:371587486" variation complement(1335) /gene="PBX4" /replace="a" /replace="g" /db_xref="dbSNP:369459162" variation complement(1341) /gene="PBX4" /replace="c" /replace="t" /db_xref="dbSNP:373886682" variation complement(1359) /gene="PBX4" /replace="g" /replace="t" /db_xref="dbSNP:369021002" variation complement(1549) /gene="PBX4" /replace="a" /replace="g" /db_xref="dbSNP:144960029" variation complement(1552) /gene="PBX4" /replace="a" /replace="t" /db_xref="dbSNP:184567636" polyA_signal 1600..1605 /gene="PBX4" polyA_site 1629 /gene="PBX4" ORIGIN
agaagtgccgttgcctcggcaaccccaaacccagtccaagcccggagagggggaagttcggggcgagtcccgggggcggtgcgtggcgccggttggctgacggagatgaaggggcgtgtctgtaggcggtgcaatacacgggttggctggcgatagcggcggtgggcgtggcttaggcgcgagcgagagcgggcgcggcgctcaggcagcggcggttggctgcggcgccagtggtagtgctccaggctcgacggcaccctcacagcgcccgcccggccctgccgctcatggccgccccgccgcgccccgcgccatcgccccccgccccgcggcgcctcgacacgagcgacgtcctgcagcagatcatggccatcaccgaccagagcctggacgaggcacaggccagaaagcatgctctgaattgccatcggatgaagcctgctctgttcagcgtgctctgtgagatcaaggaaaagacagtggtaagcatccgtggcattcaagacgaagatccccctgacgcccagctcctgaggctggataacatgctgctggctgagggcgtgtgcaggcccgagaagagaggaagaggaggagcggtggccagggccggcacagcaacaccaggcctgtcgtgagttcaccacgcacgtcaccaacctcctccaggagcagagcaggatgaggcctgtctcccctaaggagattgagcgcatggtcggcgccattcacggcaagttcagcgccatccagatgcagttgaagcagagcacctgtgaggcagtgatgaccctgcgttcgcggctgctcgatgccaggcgcaagcggcggaatttcagcaagcaggcgacggaagtgctgaatgagtatttttactcccatctgaacaacccttaccccagcgaagaagccaaagaagagctggccaggaagggcggcctcaccatctcccaggtctctaactggtttggcaacaaaagaatccggtataaaaagaacatggggaagtttcaagaagaggctaccatttacacgggtaaaacggctgtggataccacggaagttggggtcccagggaaccacgccagctgcctgtcaacacctagctccggctcctctggacccttcccgctgcccagcgctggggacgccttcctcaccctgcggactctggcctctctccagcctcctcctgggggaggctgcctgcagtcccaggcccagggtagctggcagggggccaccccccaacctgcaactgcctcacctgctggagaccctggcagcatcaactccagtacatctaattaagtttgggggataagcaggaaagagcgctgcgtgagctgccatgtatcgccagccgttgctttgttactgaacgtgccgccgacgacctcagaaaacccagatgggtggtggtgcccatgagcccctgctcctcagccaggcccgtggcgccggctcatgtgtctgctgcgactcgagatggcctgaaacgccactcattctcccacttcagttcgtttttttgacagtaattttatggtaacgctatgaattgaattgtctgttctaggactgggcacagattttcccattaaaatttttgacttattttaattccgaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:80714 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA GeneID:80714 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: ISS GeneID:80714 -> Biological process: GO:0006366 [transcription from RNA polymerase II promoter] evidence: IC GeneID:80714 -> Biological process: GO:0045893 [positive regulation of transcription, DNA-dependent] evidence: IC GeneID:80714 -> Cellular component: GO:0001741 [XY body] evidence: IEA GeneID:80714 -> Cellular component: GO:0005634 [nucleus] evidence: IC
by
@meso_cacase at
DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.