2025-05-09 19:25:04, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_006195 2911 bp mRNA linear PRI 09-JUN-2013 DEFINITION Homo sapiens pre-B-cell leukemia homeobox 3 (PBX3), transcript variant 1, mRNA. ACCESSION NM_006195 VERSION NM_006195.5 GI:198041750 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 2911) 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 2911) 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 2911) 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 2911) 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 2911) 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 2911) 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 2911) 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 2911) 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 2911) 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 2911) 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, BC094883.1 and BC016977.1. On Sep 5, 2008 this sequence version replaced gi:66954660. Transcript Variant: This variant (1) utilizes an alternate first exon containing a predicted translation initiation site with a strong Kozak signal; the resulting protein isoform (1) is predicted to have a signal peptide. 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 :: BC094883.1, AK297093.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025082 [ECO:0000348] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-49 X59841.1 1-49 50-1622 BC094883.1 1-1573 1623-2602 BC016977.1 1307-2286 2603-2911 BC094883.1 2556-2864 FEATURES Location/Qualifiers source 1..2911 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="9" /map="9q33.3" gene 1..2911 /gene="PBX3" /note="pre-B-cell leukemia homeobox 3" /db_xref="GeneID:5090" /db_xref="HGNC:8634" /db_xref="HPRD:15938" /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" CDS 117..1421 /gene="PBX3" /note="isoform 1 is encoded by transcript variant 1; pre-B-cell leukemia transcription factor 3; homeobox protein PBX3" /codon_start=1 /product="pre-B-cell leukemia transcription factor 3 isoform 1" /protein_id="NP_006186.1" /db_xref="GI:5453852" /db_xref="CCDS:CCDS6865.1" /db_xref="GeneID:5090" /db_xref="HGNC:8634" /db_xref="HPRD:15938" /db_xref="MIM:176312" /translation="
MDDQSRMLQTLAGVNLAGHSVQGGMALPPPPHGHEGADGDGRKQDIGDILHQIMTITDQSLDEAQAKKHALNCHRMKPALFSVLCEIKEKTGLSIRGAQEEDPPDPQLMRLDNMLLAEGVSGPEKGGGSAAAAAAAAASGGSSDNSIEHSDYRAKLTQIRQIYHTELEKYEQACNEFTTHVMNLLREQSRTRPISPKEIERMVGIIHRKFSSIQMQLKQSTCEAVMILRSRFLDARRKRRNFSKQATEILNEYFYSHLSNPYPSEEAKEELAKKCSITVSQVSNWFGNKRIRYKKNIGKFQEEANLYAAKTAVTAAHAVAAAVQNNQTNSPTTPNSGSSGSFNLPNSGDMFMNMQSLNGDSYQGSQVGANVQSQVDTLRHVINQTGGYSDGLGGNSLYSPHNLNANGGWQDATTPSSVTSPTEGPGSVHSDTSN
" misc_feature 240..818 /gene="PBX3" /note="PBC domain; Region: PBC; pfam03792" /db_xref="CDD:217730" misc_feature 822..1004 /gene="PBX3" /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:238039" misc_feature order(822..836,840..842,900..902,918..920,957..959, 963..968,975..980,984..992,996..1001) /gene="PBX3" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:238039" misc_feature order(828..830,837..839,966..968,975..980,987..989) /gene="PBX3" /note="specific DNA base contacts [nucleotide binding]; other site" /db_xref="CDD:238039" 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..632 /gene="PBX3" /inference="alignment:Splign:1.39.8" variation 413 /gene="PBX3" /replace="c" /replace="g" /db_xref="dbSNP:140051153" variation 505 /gene="PBX3" /replace="c" /replace="t" /db_xref="dbSNP:376106319" variation 523 /gene="PBX3" /replace="c" /replace="t" /db_xref="dbSNP:145687528" variation complement(541) /gene="PBX3" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:2149989" variation 546 /gene="PBX3" /replace="c" /replace="g" /db_xref="dbSNP:369511204" variation 550 /gene="PBX3" /replace="a" /replace="g" /db_xref="dbSNP:114889309" variation 587 /gene="PBX3" /replace="a" /replace="c" /db_xref="dbSNP:114411468" exon 633..823 /gene="PBX3" /inference="alignment:Splign:1.39.8" variation 767 /gene="PBX3" /replace="a" /replace="g" /db_xref="dbSNP:1854706" exon 824..959 /gene="PBX3" /inference="alignment:Splign:1.39.8" variation 887 /gene="PBX3" /replace="c" /replace="t" /db_xref="dbSNP:117595468" exon 960..1125 /gene="PBX3" /inference="alignment:Splign:1.39.8" variation 968 /gene="PBX3" /replace="c" /replace="t" /db_xref="dbSNP:141969948" variation 1031 /gene="PBX3" /replace="c" /replace="t" /db_xref="dbSNP:374198859" variation 1067 /gene="PBX3" /replace="c" /replace="t" /db_xref="dbSNP:368535684" variation 1074 /gene="PBX3" /replace="a" /replace="g" /db_xref="dbSNP:199830900" variation 1085 /gene="PBX3" /replace="a" /replace="g" /db_xref="dbSNP:372253003" variation 1105 /gene="PBX3" /replace="c" /replace="t" /db_xref="dbSNP:370710553" variation 1106 /gene="PBX3" /replace="a" /replace="g" /db_xref="dbSNP:114208419" variation 1109 /gene="PBX3" /replace="c" /replace="t" /db_xref="dbSNP:145537886" variation 1124 /gene="PBX3" /replace="c" /replace="t" /db_xref="dbSNP:200644689" exon 1126..1238 /gene="PBX3" /inference="alignment:Splign:1.39.8" exon 1239..1328 /gene="PBX3" /inference="alignment:Splign:1.39.8" variation 1262 /gene="PBX3" /replace="c" /replace="g" /db_xref="dbSNP:148844992" variation 1270 /gene="PBX3" /replace="c" /replace="t" /db_xref="dbSNP:143568685" variation 1281 /gene="PBX3" /replace="a" /replace="g" /db_xref="dbSNP:376665042" variation 1286 /gene="PBX3" /replace="c" /replace="t" /db_xref="dbSNP:138039965" variation 1295 /gene="PBX3" /replace="a" /replace="g" /db_xref="dbSNP:1058389" variation 1299 /gene="PBX3" /replace="a" /replace="g" /db_xref="dbSNP:144885113" variation 1305 /gene="PBX3" /replace="c" /replace="g" /db_xref="dbSNP:76165119" variation 1306 /gene="PBX3" /replace="c" /replace="t" /db_xref="dbSNP:138731813" variation 1310 /gene="PBX3" /replace="c" /replace="t" /db_xref="dbSNP:189417832" variation 1314 /gene="PBX3" /replace="c" /replace="t" /db_xref="dbSNP:114191763" variation 1319 /gene="PBX3" /replace="c" /replace="t" /db_xref="dbSNP:369882718" exon 1329..2875 /gene="PBX3" /inference="alignment:Splign:1.39.8" variation 1336 /gene="PBX3" /replace="c" /replace="g" /db_xref="dbSNP:142803989" variation 1370 /gene="PBX3" /replace="c" /replace="g" /db_xref="dbSNP:111373780" variation 1402 /gene="PBX3" /replace="a" /replace="g" /db_xref="dbSNP:115431152" variation 1442 /gene="PBX3" /replace="" /replace="t" /db_xref="dbSNP:33993404" STS 1453..1577 /gene="PBX3" /standard_name="WI-16961" /db_xref="UniSTS:70983" variation 1458 /gene="PBX3" /replace="a" /replace="g" /db_xref="dbSNP:374696590" variation 1476 /gene="PBX3" /replace="a" /replace="g" /db_xref="dbSNP:77899191" variation 1614..1615 /gene="PBX3" /replace="" /replace="a" /db_xref="dbSNP:35298105" variation 1614 /gene="PBX3" /replace="a" /replace="t" /db_xref="dbSNP:79152930" variation 1639 /gene="PBX3" /replace="a" /replace="g" /db_xref="dbSNP:186361189" variation 1678 /gene="PBX3" /replace="a" /replace="g" /db_xref="dbSNP:11792585" variation 1682 /gene="PBX3" /replace="c" /replace="t" /db_xref="dbSNP:144996442" variation 1685 /gene="PBX3" /replace="c" /replace="t" /db_xref="dbSNP:149098105" STS 1764..1906 /gene="PBX3" /standard_name="SHGC-30429" /db_xref="UniSTS:26658" variation 1773 /gene="PBX3" /replace="a" /replace="c" /db_xref="dbSNP:192067546" variation 1853 /gene="PBX3" /replace="c" /replace="g" /db_xref="dbSNP:373063178" variation 1864 /gene="PBX3" /replace="a" /replace="g" /db_xref="dbSNP:376294286" STS 1907..2740 /gene="PBX3" /standard_name="PBX3_2144" /db_xref="UniSTS:280889" variation 1932 /gene="PBX3" /replace="c" /replace="t" /db_xref="dbSNP:13296162" variation 1937 /gene="PBX3" /replace="c" /replace="t" /db_xref="dbSNP:113094250" variation 2105 /gene="PBX3" /replace="g" /replace="t" /db_xref="dbSNP:151283697" variation 2112 /gene="PBX3" /replace="a" /replace="g" /db_xref="dbSNP:374619196" variation 2116 /gene="PBX3" /replace="c" /replace="g" /db_xref="dbSNP:73667816" variation 2126 /gene="PBX3" /replace="c" /replace="g" /db_xref="dbSNP:141512258" variation 2183 /gene="PBX3" /replace="c" /replace="g" /db_xref="dbSNP:374738745" STS 2252..2358 /gene="PBX3" /standard_name="G07093" /db_xref="UniSTS:274" variation 2266..2268 /gene="PBX3" /replace="" /replace="tta" /db_xref="dbSNP:71680715" variation 2321 /gene="PBX3" /replace="g" /replace="t" /db_xref="dbSNP:113517815" variation 2365 /gene="PBX3" /replace="a" /replace="g" /db_xref="dbSNP:147042624" variation 2457 /gene="PBX3" /replace="c" /replace="g" /db_xref="dbSNP:368092553" variation 2587 /gene="PBX3" /replace="" /replace="a" /replace="aa" /db_xref="dbSNP:10543594" variation 2596 /gene="PBX3" /replace="" /replace="a" /replace="aa" /db_xref="dbSNP:67765417" STS 2602..2810 /gene="PBX3" /standard_name="RH45491" /db_xref="UniSTS:82884" STS 2639..2795 /gene="PBX3" /standard_name="A009U31" /db_xref="UniSTS:56130" STS 2639..2795 /gene="PBX3" /standard_name="G32849" /db_xref="UniSTS:117428" variation 2641 /gene="PBX3" /replace="a" /replace="c" /db_xref="dbSNP:183611167" variation 2733 /gene="PBX3" /replace="a" /replace="g" /db_xref="dbSNP:186955350" ORIGIN
gcggccgcctccccctccccctccccctctttcttctcctccctcgtcgccgccgccgccgccgccgcctcagccttcgcctcagccgccgcccgctcccgcccgcgcgcggcgggatggacgatcaatccaggatgctgcagactctggccggggtgaacctggctggccactcggtgcaggggggcatggccctgccgcctcccccgcacggccacgaaggggcggacggcgacggcaggaagcaggacatcggcgacatcctccaccagatcatgaccatcaccgaccagagcttggacgaggcgcaagcaaagaaacatgccctgaactgtcacagaatgaaaccagcgctcttcagcgtcctgtgtgagatcaaagagaaaacaggtctcagcatcagaggagcccaggaggaggaccctcccgatccccagctaatgagactggacaatatgcttttggcagaaggggtttcaggtcctgagaaaggtgggggatcggcggcagcagctgcagccgcggcagcctctggaggttcttcagataactctattgaacactcagattacagagccaaattgacccagatcagacaaatctatcacacagaactggagaaatatgaacaggcatgtaatgaatttactacacatgtgatgaaccttctccgagaacagagtagaacacgtcccatttctccaaaagagattgaaagaatggtgggcatcatccatcgaaaatttagttccattcagatgcagctcaaacaaagcacttgtgaagcagttatgattttaagatcaaggttccttgatgccagacggaaaaggcgtaacttcagtaaacaggccacagaaatcttgaatgaatatttttactcacacctcagcaacccctaccccagtgaagaagccaaagaggagctggccaagaaatgcagcatcacagtgtcacaggtatccaattggtttggcaacaaacgaatcaggtacaagaagaacattggcaagtttcaggaagaagccaacctctatgctgcaaagacggccgtgacagctgcacacgcagtagcagcagctgtgcagaacaaccagaccaattcgcccaccacaccaaattccggttcttctggttcttttaacctcccaaattctggggacatgttcatgaacatgcagagtctgaatggggattcttaccaagggtcccaagtcggagccaatgtgcaatcacaggtggataccctccgtcatgttatcaatcagacgggaggctacagtgatggccttggaggaaattcactgtacagtccacataatttaaatgctaatggaggctggcaggacgcaacaactccatcttctgtgacttctcctacagaaggcccaggaagtgtgcactcggatacctctaactaatctctggccacacttttccctgagctacatgccttgataagtgcattcagagcaataggaggaaaaggaaagcgtttttgtagcccaccatctacagctttactgtaaaaccttgtcttattcgagaacttggtaaatctgttttttaaggaatcataatcatttgtatttatacttaaaaacacacaatgttaaaaaaaataaagcactttatccaattaggccaagatttaacattgttgacagtcctgtagctattttatcataatttattatcaatattttacattaatggtttcacagttgccaattacttggccttaagggtaaaaagtacaatatacactaaacctcaaccgttaaagcagatgcaaaaattcacctcacctaaattgaacttcttgcatatttccattactgacttggattgtctttctttcatatcactaatggagttggaataaagagctgtttgcctatccctgttaatgatggttgtgtttaagaatcttcctcgtcacgtttgtgttcagatctcttatgttataattagatcagagactggtagcatcgtttctctctctgaaagcaccagtgcccagagtctgctcggtaataaaattatggatccagattgttctgagagacgaagatacttgctgctgatagaggtgaaaacgagattgatccgtctggggttttacggtgtgcactgggtgctgcacagacttgtcaaggtttgctacgtcctctgggcatctgcaaaaggccctgctctctggagtgttgtatatagtgtagcaaaagagtatttatacatcccaccaatcaaaacacagctttattacctcatgcgaactcatacaaaccaatagaatttcaacatgttctgtagcttagagtgctcacttactacctctgaacaatactcacgctgtagtttgtctctttcttatctttttgcatcttgtaattaactctttgtttcccttcataaaatgtaatgtacattgtaatcttttaaaagaaaaatcagggttgcacttgcaacttttaaaaaaccgagtgtggaaacattgggtcttaattcaacacaggatcggtaaaactgttgtaaatactgagaaacattttgaatgttcttcatcttattactaatccatgcaaaaaaaaaaaaaaaagcagcgactaattgtgatgcattcagatttcagtattcagtactgtatatttcaccctgtgtaatggggccccctctcctttctctctttttgtattgtatgcgattctgaaactgattgagtcatgaaaataatttgtggcggtgattctaatgtattaaaaacgtttcgtgttcctttctaactggattacaccctggattgaaaaagtcttcctcgtggtagttatatgtagtttcaaacatgaataaactttttgctttcatgattaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa
//
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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