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2024-04-20 16:33:48, GGRNA : RefSeq release 60 (20130726)
LOCUS NR_024123 2556 bp RNA linear PRI 16-JUL-2013 DEFINITION Homo sapiens pre-B-cell leukemia homeobox 3 (PBX3), transcript variant 4, non-coding RNA. ACCESSION NR_024123 VERSION NR_024123.1 GI:198041761 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 2556) AUTHORS Li,Z., Zhang,Z., Li,Y., Arnovitz,S., Chen,P., Huang,H., Jiang,X., Hong,G.M., Kunjamma,R.B., Ren,H., He,C., Wang,C.Z., Elkahloun,A.G., Valk,P.J., Dohner,K., Neilly,M.B., Bullinger,L., Delwel,R., Lowenberg,B., Liu,P.P., Morgan,R., Rowley,J.D., Yuan,C.S. and Chen,J. TITLE PBX3 is an important cofactor of HOXA9 in leukemogenesis JOURNAL Blood 121 (8), 1422-1431 (2013) PUBMED 23264595 REMARK GeneRIF: Collectively, our data suggest that PBX3 is a critical cofactor of HOXA9 in leukemogenesis. REFERENCE 2 (bases 1 to 2556) AUTHORS Ho,C.Y., Bar,E., Giannini,C., Marchionni,L., Karajannis,M.A., Zagzag,D., Gutmann,D.H., Eberhart,C.G. and Rodriguez,F.J. TITLE MicroRNA profiling in pediatric pilocytic astrocytoma reveals biologically relevant targets, including PBX3, NFIB, and METAP2 JOURNAL Neuro-oncology 15 (1), 69-82 (2013) PUBMED 23161775 REMARK GeneRIF: Increased expression of PBX3 is associated with pilocytic astrocytoma. REFERENCE 3 (bases 1 to 2556) AUTHORS Arrington,C.B., Dowse,B.R., Bleyl,S.B. and Bowles,N.E. TITLE Non-synonymous variants in pre-B cell leukemia homeobox (PBX) genes are associated with congenital heart defects JOURNAL Eur J Med Genet 55 (4), 235-237 (2012) PUBMED 22426282 REMARK GeneRIF: The Pbx3 Ala136Val variant is a modifier or risk allele for congenital heart defects. REFERENCE 4 (bases 1 to 2556) AUTHORS Li,Z., Huang,H., Li,Y., Jiang,X., Chen,P., Arnovitz,S., Radmacher,M.D., Maharry,K., Elkahloun,A., Yang,X., He,C., He,M., Zhang,Z., Dohner,K., Neilly,M.B., Price,C., Lussier,Y.A., Zhang,Y., Larson,R.A., Le Beau,M.M., Caligiuri,M.A., Bullinger,L., Valk,P.J., Delwel,R., Lowenberg,B., Liu,P.P., Marcucci,G., Bloomfield,C.D., Rowley,J.D. and Chen,J. TITLE Up-regulation of a HOXA-PBX3 homeobox-gene signature following down-regulation of miR-181 is associated with adverse prognosis in patients with cytogenetically abnormal AML JOURNAL Blood 119 (10), 2314-2324 (2012) PUBMED 22251480 REMARK GeneRIF: Data show that up-regulation of the HOXA7, HOXA9, HOXA11, and PBX3 resulting from the down-regulation of miR-181 family members probably contribute to the poor prognosis of patients with nonfavorable cytogenetically abnormal AML (CA-AML). REFERENCE 5 (bases 1 to 2556) AUTHORS Ramberg,H., Alshbib,A., Berge,V., Svindland,A. and Tasken,K.A. TITLE Regulation of PBX3 expression by androgen and Let-7d in prostate cancer JOURNAL Mol. Cancer 10, 50 (2011) PUBMED 21548940 REMARK GeneRIF: PBX3 is up-regulated in prostate cancer and post- transcriptionally regulated by androgen through Let-7d. Publication Status: Online-Only REFERENCE 6 (bases 1 to 2556) AUTHORS Wistow,G., Bernstein,S.L., Wyatt,M.K., Behal,A., Touchman,J.W., Bouffard,G., Smith,D. and Peterson,K. TITLE Expressed sequence tag analysis of adult human lens for the NEIBank Project: over 2000 non-redundant transcripts, novel genes and splice variants JOURNAL Mol. Vis. 8, 171-184 (2002) PUBMED 12107413 REMARK Publication Status: Online-Only REFERENCE 7 (bases 1 to 2556) AUTHORS Knoepfler,P.S., Sykes,D.B., Pasillas,M. and Kamps,M.P. TITLE HoxB8 requires its Pbx-interaction motif to block differentiation of primary myeloid progenitors and of most cell line models of myeloid differentiation JOURNAL Oncogene 20 (39), 5440-5448 (2001) PUBMED 11571641 REFERENCE 8 (bases 1 to 2556) AUTHORS Fujino,T., Yamazaki,Y., Largaespada,D.A., Jenkins,N.A., Copeland,N.G., Hirokawa,K. and Nakamura,T. TITLE Inhibition of myeloid differentiation by Hoxa9, Hoxb8, and Meis homeobox genes JOURNAL Exp. Hematol. 29 (7), 856-863 (2001) PUBMED 11438208 REFERENCE 9 (bases 1 to 2556) AUTHORS Shen,W.F., Rozenfeld,S., Kwong,A., Kom ves,L.G., Lawrence,H.J. and Largman,C. TITLE HOXA9 forms triple complexes with PBX2 and MEIS1 in myeloid cells JOURNAL Mol. Cell. Biol. 19 (4), 3051-3061 (1999) PUBMED 10082572 REFERENCE 10 (bases 1 to 2556) AUTHORS Monica,K., Galili,N., Nourse,J., Saltman,D. and Cleary,M.L. TITLE PBX2 and PBX3, new homeobox genes with extensive homology to the human proto-oncogene PBX1 JOURNAL Mol. Cell. Biol. 11 (12), 6149-6157 (1991) PUBMED 1682799 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from X59841.1, AI479638.1, AF355142.1, BC094883.1, CD675622.1, CN372830.1 and CN372832.1. Transcript Variant: This variant (4) omits two coding exons resulting in a frameshift and truncated open reading frame. The transcript is predicted to be a candidate for nonsense-mediated decay and likely does not encode a protein. 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. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-72 X59841.1 1-72 73-116 AI479638.1 37-80 117-188 AF355142.1 1-72 189-390 BC094883.1 140-341 391-1066 AF355142.1 275-950 1067-1528 CD675622.1 117-578 1529-1927 CN372830.1 355-753 1928-2384 CN372832.1 95-551 2385-2556 BC094883.1 2693-2864 FEATURES Location/Qualifiers source 1..2556 /organism="Homo sapiens" /mol_type="transcribed RNA" /db_xref="taxon:9606" /chromosome="9" /map="9q33.3" gene 1..2556 /gene="PBX3" /note="pre-B-cell leukemia homeobox 3" /db_xref="GeneID:5090" /db_xref="HGNC:8634" /db_xref="MIM:176312" misc_RNA 1..2556 /gene="PBX3" /product="pre-B-cell leukemia homeobox 3, transcript variant 4" /db_xref="GeneID:5090" /db_xref="HGNC:8634" /db_xref="MIM:176312" exon 1..316 /gene="PBX3" /inference="alignment:Splign:1.39.8" variation 41 /gene="PBX3" /replace="c" /replace="g" /db_xref="dbSNP:193112371" variation 48..49 /gene="PBX3" /replace="" /replace="cgc" /db_xref="dbSNP:370214241" misc_feature 117..398 /gene="PBX3" /inference="COORDINATES: alignment:Blast2seq::RefSeq|NM_006195.5" /note="primary ORF has stop codon >50 nucleotides from the terminal splice site; nonsense-mediated decay (NMD) candidate" variation 138 /gene="PBX3" /replace="c" /replace="g" /db_xref="dbSNP:370064871" variation 231 /gene="PBX3" /replace="a" /replace="g" /db_xref="dbSNP:142427880" variation 243 /gene="PBX3" /replace="c" /replace="t" /db_xref="dbSNP:74704804" variation 278 /gene="PBX3" /replace="a" /replace="g" /db_xref="dbSNP:150874436" exon 317..390 /gene="PBX3" /inference="alignment:Splign:1.39.8" variation 352 /gene="PBX3" /replace="c" /replace="g" /db_xref="dbSNP:372548249" variation 383 /gene="PBX3" /replace="c" /replace="g" /db_xref="dbSNP:199866010" exon 391..581 /gene="PBX3" /inference="alignment:Splign:1.39.8" misc_signal 415..423 /gene="PBX3" /note="Kozak consensus sequence; degenerate" misc_signal 475..483 /gene="PBX3" /note="Kozak consensus sequence; alternative" variation 525 /gene="PBX3" /replace="a" /replace="g" /db_xref="dbSNP:1854706" misc_feature 577..765 /gene="PBX3" /note="homeobox" exon 582..717 /gene="PBX3" /inference="alignment:Splign:1.39.8" variation 645 /gene="PBX3" /replace="c" /replace="t" /db_xref="dbSNP:117595468" exon 718..883 /gene="PBX3" /inference="alignment:Splign:1.39.8" variation 726 /gene="PBX3" /replace="c" /replace="t" /db_xref="dbSNP:141969948" variation 789 /gene="PBX3" /replace="c" /replace="t" /db_xref="dbSNP:374198859" variation 825 /gene="PBX3" /replace="c" /replace="t" /db_xref="dbSNP:368535684" variation 832 /gene="PBX3" /replace="a" /replace="g" /db_xref="dbSNP:199830900" variation 843 /gene="PBX3" /replace="a" /replace="g" /db_xref="dbSNP:372253003" variation 863 /gene="PBX3" /replace="c" /replace="t" /db_xref="dbSNP:370710553" variation 864 /gene="PBX3" /replace="a" /replace="g" /db_xref="dbSNP:114208419" variation 867 /gene="PBX3" /replace="c" /replace="t" /db_xref="dbSNP:145537886" variation 882 /gene="PBX3" /replace="c" /replace="t" /db_xref="dbSNP:200644689" exon 884..973 /gene="PBX3" /inference="alignment:Splign:1.39.8" variation 907 /gene="PBX3" /replace="c" /replace="g" /db_xref="dbSNP:148844992" variation 915 /gene="PBX3" /replace="c" /replace="t" /db_xref="dbSNP:143568685" variation 926 /gene="PBX3" /replace="a" /replace="g" /db_xref="dbSNP:376665042" variation 931 /gene="PBX3" /replace="c" /replace="t" /db_xref="dbSNP:138039965" variation 940 /gene="PBX3" /replace="a" /replace="g" /db_xref="dbSNP:1058389" variation 944 /gene="PBX3" /replace="a" /replace="g" /db_xref="dbSNP:144885113" variation 950 /gene="PBX3" /replace="c" /replace="g" /db_xref="dbSNP:76165119" variation 951 /gene="PBX3" /replace="c" /replace="t" /db_xref="dbSNP:138731813" variation 955 /gene="PBX3" /replace="c" /replace="t" /db_xref="dbSNP:189417832" variation 959 /gene="PBX3" /replace="c" /replace="t" /db_xref="dbSNP:114191763" variation 964 /gene="PBX3" /replace="c" /replace="t" /db_xref="dbSNP:369882718" exon 974..2520 /gene="PBX3" /inference="alignment:Splign:1.39.8" variation 981 /gene="PBX3" /replace="c" /replace="g" /db_xref="dbSNP:142803989" variation 1015 /gene="PBX3" /replace="c" /replace="g" /db_xref="dbSNP:111373780" variation 1047 /gene="PBX3" /replace="a" /replace="g" /db_xref="dbSNP:115431152" variation 1087 /gene="PBX3" /replace="" /replace="t" /db_xref="dbSNP:33993404" variation 1103 /gene="PBX3" /replace="a" /replace="g" /db_xref="dbSNP:374696590" variation 1121 /gene="PBX3" /replace="a" /replace="g" /db_xref="dbSNP:77899191" variation 1259..1260 /gene="PBX3" /replace="" /replace="a" /db_xref="dbSNP:35298105" variation 1259 /gene="PBX3" /replace="a" /replace="t" /db_xref="dbSNP:79152930" variation 1284 /gene="PBX3" /replace="a" /replace="g" /db_xref="dbSNP:186361189" variation 1323 /gene="PBX3" /replace="a" /replace="g" /db_xref="dbSNP:11792585" variation 1327 /gene="PBX3" /replace="c" /replace="t" /db_xref="dbSNP:144996442" variation 1330 /gene="PBX3" /replace="c" /replace="t" /db_xref="dbSNP:149098105" variation 1418 /gene="PBX3" /replace="a" /replace="c" /db_xref="dbSNP:192067546" variation 1498 /gene="PBX3" /replace="c" /replace="g" /db_xref="dbSNP:373063178" variation 1509 /gene="PBX3" /replace="a" /replace="g" /db_xref="dbSNP:376294286" variation 1577 /gene="PBX3" /replace="c" /replace="t" /db_xref="dbSNP:13296162" variation 1582 /gene="PBX3" /replace="c" /replace="t" /db_xref="dbSNP:113094250" variation 1750 /gene="PBX3" /replace="g" /replace="t" /db_xref="dbSNP:151283697" variation 1757 /gene="PBX3" /replace="a" /replace="g" /db_xref="dbSNP:374619196" variation 1761 /gene="PBX3" /replace="c" /replace="g" /db_xref="dbSNP:73667816" variation 1771 /gene="PBX3" /replace="c" /replace="g" /db_xref="dbSNP:141512258" variation 1828 /gene="PBX3" /replace="c" /replace="g" /db_xref="dbSNP:374738745" variation 1911..1913 /gene="PBX3" /replace="" /replace="tta" /db_xref="dbSNP:71680715" variation 1966 /gene="PBX3" /replace="g" /replace="t" /db_xref="dbSNP:113517815" variation 2010 /gene="PBX3" /replace="a" /replace="g" /db_xref="dbSNP:147042624" variation 2102 /gene="PBX3" /replace="c" /replace="g" /db_xref="dbSNP:368092553" variation 2232 /gene="PBX3" /replace="" /replace="a" /replace="aa" /db_xref="dbSNP:10543594" variation 2241 /gene="PBX3" /replace="" /replace="a" /replace="aa" /db_xref="dbSNP:67765417" variation 2286 /gene="PBX3" /replace="a" /replace="c" /db_xref="dbSNP:183611167" variation 2378 /gene="PBX3" /replace="a" /replace="g" /db_xref="dbSNP:186955350" ORIGIN
gcggccgcctccccctccccctccccctctttcttctcctccctcgtcgccgccgccgccgccgccgcctcagccttcgcctcagccgccgcccgctcccgcccgcgcgcggcgggatggacgatcaatccaggatgctgcagactctggccggggtgaacctggctggccactcggtgcaggggggcatggccctgccgcctcccccgcacggccacgaaggggcggacggcgacggcaggaagcaggacatcggcgacatcctccaccagatcatgaccatcaccgaccagagcttggacgaggcgcaagcaaagaaacatgccctgaactgtcacagaatgaaaccagcgctcttcagcgtcctgtgtgagatcaaagagaaaacaggcatgtaatgaatttactacacatgtgatgaaccttctccgagaacagagtagaacacgtcccatttctccaaaagagattgaaagaatggtgggcatcatccatcgaaaatttagttccattcagatgcagctcaaacaaagcacttgtgaagcagttatgattttaagatcaaggttccttgatgccagacggaaaaggcgtaacttcagtaaacaggccacagaaatcttgaatgaatatttttactcacacctcagcaacccctaccccagtgaagaagccaaagaggagctggccaagaaatgcagcatcacagtgtcacaggtatccaattggtttggcaacaaacgaatcaggtacaagaagaacattggcaagtttcaggaagaagccaacctctatgctgcaaagacggccgtgacagctgcacacgcagtagcagcagctgtgcagaacaaccagaccaattcgcccaccacaccaaattccggtggataccctccgtcatgttatcaatcagacgggaggctacagtgatggccttggaggaaattcactgtacagtccacataatttaaatgctaatggaggctggcaggacgcaacaactccatcttctgtgacttctcctacagaaggcccaggaagtgtgcactcggatacctctaactaatctctggccacacttttccctgagctacatgccttgataagtgcattcagagcaataggaggaaaaggaaagcgtttttgtagcccaccatctacagctttactgtaaaaccttgtcttattcgagaacttggtaaatctgttttttaaggaatcataatcatttgtatttatacttaaaaacacacaatgttaaaaaaaataaagcactttatccaattaggccaagatttaacattgttgacagtcctgtagctattttatcataatttattatcaatattttacattaatggtttcacagttgccaattacttggccttaagggtaaaaagtacaatatacactaaacctcaaccgttaaagcagatgcaaaaattcacctcacctaaattgaacttcttgcatatttccattactgacttggattgtctttctttcatatcactaatggagttggaataaagagctgtttgcctatccctgttaatgatggttgtgtttaagaatcttcctcgtcacgtttgtgttcagatctcttatgttataattagatcagagactggtagcatcgtttctctctctgaaagcaccagtgcccagagtctgctcggtaataaaattatggatccagattgttctgagagacgaagatacttgctgctgatagaggtgaaaacgagattgatccgtctggggttttacggtgtgcactgggtgctgcacagacttgtcaaggtttgctacgtcctctgggcatctgcaaaaggccctgctctctggagtgttgtatatagtgtagcaaaagagtatttatacatcccaccaatcaaaacacagctttattacctcatgcgaactcatacaaaccaatagaatttcaacatgttctgtagcttagagtgctcacttactacctctgaacaatactcacgctgtagtttgtctctttcttatctttttgcatcttgtaattaactctttgtttcccttcataaaatgtaatgtacattgtaatcttttaaaagaaaaatcagggttgcacttgcaacttttaaaaaaccgagtgtggaaacattgggtcttaattcaacacaggatcggtaaaactgttgtaaatactgagaaacattttgaatgttcttcatcttattactaatccatgcaaaaaaaaaaaaaaaagcagcgactaattgtgatgcattcagatttcagtattcagtactgtatatttcaccctgtgtaatggggccccctctcctttctctctttttgtattgtatgcgattctgaaactgattgagtcatgaaaataatttgtggcggtgattctaatgtattaaaaacgtttcgtgttcctttctaactggattacaccctggattgaaaaagtcttcctcgtggtagttatatgtagtttcaaacatgaataaactttttgctttcatgattaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:5090 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA
GeneID:5090 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA
GeneID:5090 -> Biological process: GO:0002087 [regulation of respiratory gaseous exchange by neurological system process] evidence: IEA
GeneID:5090 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA
GeneID:5090 -> Biological process: GO:0007387 [anterior compartment pattern formation] evidence: TAS
GeneID:5090 -> Biological process: GO:0007388 [posterior compartment specification] evidence: TAS
GeneID:5090 -> Biological process: GO:0007585 [respiratory gaseous exchange] evidence: IEA
GeneID:5090 -> Biological process: GO:0008344 [adult locomotory behavior] evidence: IEA
GeneID:5090 -> Biological process: GO:0021516 [dorsal spinal cord development] evidence: IEA
GeneID:5090 -> Biological process: GO:0048666 [neuron development] evidence: IEA
GeneID:5090 -> Cellular component: GO:0005667 [transcription factor complex] evidence: IEA
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