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2025-05-09 20:27:24, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001134778 2825 bp mRNA linear PRI 09-JUN-2013 DEFINITION Homo sapiens pre-B-cell leukemia homeobox 3 (PBX3), transcript variant 2, mRNA. ACCESSION NM_001134778 VERSION NM_001134778.1 GI:198041754 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 2825) 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 2825) 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 2825) 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 2825) 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 2825) 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 2825) 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 2825) 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 2825) 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 2825) 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 2825) 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 AK309713.1, BC094883.1, CD675622.1, CN372830.1 and CN372832.1. Transcript Variant: This variant (2) utilizes an alternate first exon and 5'UTR; thus, the first likely translation initiation site corresponds to an internal methionine in variant 1. The predicted protein (isoform 2) is N-terminally truncated compared to isoform 1 and is not 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 :: AK309713.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025086 [ECO:0000348] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-752 AK309713.1 1-752 753-1536 BC094883.1 790-1573 1537-1797 CD675622.1 318-578 1798-2196 CN372830.1 355-753 2197-2653 CN372832.1 95-551 2654-2825 BC094883.1 2693-2864 FEATURES Location/Qualifiers source 1..2825 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="9" /map="9q33.3" gene 1..2825 /gene="PBX3" /note="pre-B-cell leukemia homeobox 3" /db_xref="GeneID:5090" /db_xref="HGNC:8634" /db_xref="MIM:176312" exon 1..230 /gene="PBX3" /inference="alignment:Splign:1.39.8" variation 132..133 /gene="PBX3" /replace="" /replace="g" /db_xref="dbSNP:373925399" variation 151 /gene="PBX3" /replace="c" /replace="t" /db_xref="dbSNP:12686532" misc_feature 199..201 /gene="PBX3" /note="upstream in-frame stop codon" exon 231..304 /gene="PBX3" /inference="alignment:Splign:1.39.8" CDS 256..1335 /gene="PBX3" /note="isoform 2 is encoded by transcript variant 2; pre-B-cell leukemia transcription factor 3; homeobox protein PBX3" /codon_start=1 /product="pre-B-cell leukemia transcription factor 3 isoform 2" /protein_id="NP_001128250.1" /db_xref="GI:198041755" /db_xref="CCDS:CCDS48021.1" /db_xref="GeneID:5090" /db_xref="HGNC:8634" /db_xref="MIM:176312" /translation="
MKPALFSVLCEIKEKTGLSIRGAQEEDPPDPQLMRLDNMLLAEGVSGPEKGGGSAAAAAAAAASGGSSDNSIEHSDYRAKLTQIRQIYHTELEKYEQACNEFTTHVMNLLREQSRTRPISPKEIERMVGIIHRKFSSIQMQLKQSTCEAVMILRSRFLDARRKRRNFSKQATEILNEYFYSHLSNPYPSEEAKEELAKKCSITVSQVSNWFGNKRIRYKKNIGKFQEEANLYAAKTAVTAAHAVAAAVQNNQTNSPTTPNSGSSGSFNLPNSGDMFMNMQSLNGDSYQGSQVGANVQSQVDTLRHVINQTGGYSDGLGGNSLYSPHNLNANGGWQDATTPSSVTSPTEGPGSVHSDTSN
"
misc_feature 256..732
/gene="PBX3"
/note="PBC domain; Region: PBC; pfam03792"
/db_xref="CDD:217730"
misc_feature 736..918
/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(736..750,754..756,814..816,832..834,871..873,
877..882,889..894,898..906,910..915)
/gene="PBX3"
/note="DNA binding site [nucleotide binding]"
/db_xref="CDD:238039"
misc_feature order(742..744,751..753,880..882,889..894,901..903)
/gene="PBX3"
/note="specific DNA base contacts [nucleotide binding];
other site"
/db_xref="CDD:238039"
variation 266
/gene="PBX3"
/replace="c"
/replace="g"
/db_xref="dbSNP:372548249"
variation 297
/gene="PBX3"
/replace="c"
/replace="g"
/db_xref="dbSNP:199866010"
exon 305..546
/gene="PBX3"
/inference="alignment:Splign:1.39.8"
variation 327
/gene="PBX3"
/replace="c"
/replace="g"
/db_xref="dbSNP:140051153"
variation 419
/gene="PBX3"
/replace="c"
/replace="t"
/db_xref="dbSNP:376106319"
variation 437
/gene="PBX3"
/replace="c"
/replace="t"
/db_xref="dbSNP:145687528"
variation complement(455)
/gene="PBX3"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:2149989"
variation 460
/gene="PBX3"
/replace="c"
/replace="g"
/db_xref="dbSNP:369511204"
variation 464
/gene="PBX3"
/replace="a"
/replace="g"
/db_xref="dbSNP:114889309"
variation 501
/gene="PBX3"
/replace="a"
/replace="c"
/db_xref="dbSNP:114411468"
exon 547..737
/gene="PBX3"
/inference="alignment:Splign:1.39.8"
variation 681
/gene="PBX3"
/replace="a"
/replace="g"
/db_xref="dbSNP:1854706"
exon 738..873
/gene="PBX3"
/inference="alignment:Splign:1.39.8"
variation 801
/gene="PBX3"
/replace="c"
/replace="t"
/db_xref="dbSNP:117595468"
exon 874..1039
/gene="PBX3"
/inference="alignment:Splign:1.39.8"
variation 882
/gene="PBX3"
/replace="c"
/replace="t"
/db_xref="dbSNP:141969948"
variation 945
/gene="PBX3"
/replace="c"
/replace="t"
/db_xref="dbSNP:374198859"
variation 981
/gene="PBX3"
/replace="c"
/replace="t"
/db_xref="dbSNP:368535684"
variation 988
/gene="PBX3"
/replace="a"
/replace="g"
/db_xref="dbSNP:199830900"
variation 999
/gene="PBX3"
/replace="a"
/replace="g"
/db_xref="dbSNP:372253003"
variation 1019
/gene="PBX3"
/replace="c"
/replace="t"
/db_xref="dbSNP:370710553"
variation 1020
/gene="PBX3"
/replace="a"
/replace="g"
/db_xref="dbSNP:114208419"
variation 1023
/gene="PBX3"
/replace="c"
/replace="t"
/db_xref="dbSNP:145537886"
variation 1038
/gene="PBX3"
/replace="c"
/replace="t"
/db_xref="dbSNP:200644689"
exon 1040..1152
/gene="PBX3"
/inference="alignment:Splign:1.39.8"
exon 1153..1242
/gene="PBX3"
/inference="alignment:Splign:1.39.8"
variation 1176
/gene="PBX3"
/replace="c"
/replace="g"
/db_xref="dbSNP:148844992"
variation 1184
/gene="PBX3"
/replace="c"
/replace="t"
/db_xref="dbSNP:143568685"
variation 1195
/gene="PBX3"
/replace="a"
/replace="g"
/db_xref="dbSNP:376665042"
variation 1200
/gene="PBX3"
/replace="c"
/replace="t"
/db_xref="dbSNP:138039965"
variation 1209
/gene="PBX3"
/replace="a"
/replace="g"
/db_xref="dbSNP:1058389"
variation 1213
/gene="PBX3"
/replace="a"
/replace="g"
/db_xref="dbSNP:144885113"
variation 1219
/gene="PBX3"
/replace="c"
/replace="g"
/db_xref="dbSNP:76165119"
variation 1220
/gene="PBX3"
/replace="c"
/replace="t"
/db_xref="dbSNP:138731813"
variation 1224
/gene="PBX3"
/replace="c"
/replace="t"
/db_xref="dbSNP:189417832"
variation 1228
/gene="PBX3"
/replace="c"
/replace="t"
/db_xref="dbSNP:114191763"
variation 1233
/gene="PBX3"
/replace="c"
/replace="t"
/db_xref="dbSNP:369882718"
exon 1243..2789
/gene="PBX3"
/inference="alignment:Splign:1.39.8"
variation 1250
/gene="PBX3"
/replace="c"
/replace="g"
/db_xref="dbSNP:142803989"
variation 1284
/gene="PBX3"
/replace="c"
/replace="g"
/db_xref="dbSNP:111373780"
variation 1316
/gene="PBX3"
/replace="a"
/replace="g"
/db_xref="dbSNP:115431152"
variation 1356
/gene="PBX3"
/replace=""
/replace="t"
/db_xref="dbSNP:33993404"
STS 1367..1491
/gene="PBX3"
/standard_name="WI-16961"
/db_xref="UniSTS:70983"
variation 1372
/gene="PBX3"
/replace="a"
/replace="g"
/db_xref="dbSNP:374696590"
variation 1390
/gene="PBX3"
/replace="a"
/replace="g"
/db_xref="dbSNP:77899191"
variation 1528..1529
/gene="PBX3"
/replace=""
/replace="a"
/db_xref="dbSNP:35298105"
variation 1528
/gene="PBX3"
/replace="a"
/replace="t"
/db_xref="dbSNP:79152930"
variation 1553
/gene="PBX3"
/replace="a"
/replace="g"
/db_xref="dbSNP:186361189"
variation 1592
/gene="PBX3"
/replace="a"
/replace="g"
/db_xref="dbSNP:11792585"
variation 1596
/gene="PBX3"
/replace="c"
/replace="t"
/db_xref="dbSNP:144996442"
variation 1599
/gene="PBX3"
/replace="c"
/replace="t"
/db_xref="dbSNP:149098105"
STS 1678..1820
/gene="PBX3"
/standard_name="SHGC-30429"
/db_xref="UniSTS:26658"
variation 1687
/gene="PBX3"
/replace="a"
/replace="c"
/db_xref="dbSNP:192067546"
variation 1767
/gene="PBX3"
/replace="c"
/replace="g"
/db_xref="dbSNP:373063178"
variation 1778
/gene="PBX3"
/replace="a"
/replace="g"
/db_xref="dbSNP:376294286"
STS 1821..2654
/gene="PBX3"
/standard_name="PBX3_2144"
/db_xref="UniSTS:280889"
variation 1846
/gene="PBX3"
/replace="c"
/replace="t"
/db_xref="dbSNP:13296162"
variation 1851
/gene="PBX3"
/replace="c"
/replace="t"
/db_xref="dbSNP:113094250"
variation 2019
/gene="PBX3"
/replace="g"
/replace="t"
/db_xref="dbSNP:151283697"
variation 2026
/gene="PBX3"
/replace="a"
/replace="g"
/db_xref="dbSNP:374619196"
variation 2030
/gene="PBX3"
/replace="c"
/replace="g"
/db_xref="dbSNP:73667816"
variation 2040
/gene="PBX3"
/replace="c"
/replace="g"
/db_xref="dbSNP:141512258"
variation 2097
/gene="PBX3"
/replace="c"
/replace="g"
/db_xref="dbSNP:374738745"
STS 2166..2272
/gene="PBX3"
/standard_name="G07093"
/db_xref="UniSTS:274"
variation 2180..2182
/gene="PBX3"
/replace=""
/replace="tta"
/db_xref="dbSNP:71680715"
variation 2235
/gene="PBX3"
/replace="g"
/replace="t"
/db_xref="dbSNP:113517815"
variation 2279
/gene="PBX3"
/replace="a"
/replace="g"
/db_xref="dbSNP:147042624"
variation 2371
/gene="PBX3"
/replace="c"
/replace="g"
/db_xref="dbSNP:368092553"
variation 2501
/gene="PBX3"
/replace=""
/replace="a"
/replace="aa"
/db_xref="dbSNP:10543594"
variation 2510
/gene="PBX3"
/replace=""
/replace="a"
/replace="aa"
/db_xref="dbSNP:67765417"
STS 2516..2724
/gene="PBX3"
/standard_name="RH45491"
/db_xref="UniSTS:82884"
STS 2553..2709
/gene="PBX3"
/standard_name="A009U31"
/db_xref="UniSTS:56130"
STS 2553..2709
/gene="PBX3"
/standard_name="G32849"
/db_xref="UniSTS:117428"
variation 2555
/gene="PBX3"
/replace="a"
/replace="c"
/db_xref="dbSNP:183611167"
variation 2647
/gene="PBX3"
/replace="a"
/replace="g"
/db_xref="dbSNP:186955350"
ORIGIN
ctctgcacaggagcggacgcgggagcccctccgcacccgtcccctcccccgggtcgccttcgcctgcccccggggcgaggctccccgcgcgggttcgcgtcgcgtctgcagtggccgaggctgctgcctgccgggcagatgggtccgccttgttccggctgcagctttcgccgccggggcttgctggctgtcgggaactagtcaactggagtttttgttgacttcccacggaaacatgccctgaactgtcacagaatgaaaccagcgctcttcagcgtcctgtgtgagatcaaagagaaaacaggtctcagcatcagaggagcccaggaggaggaccctcccgatccccagctaatgagactggacaatatgcttttggcagaaggggtttcaggtcctgagaaaggtgggggatcggcggcagcagctgcagccgcggcagcctctggaggttcttcagataactctattgaacactcagattacagagccaaattgacccagatcagacaaatctatcacacagaactggagaaatatgaacaggcatgtaatgaatttactacacatgtgatgaaccttctccgagaacagagtagaacacgtcccatttctccaaaagagattgaaagaatggtgggcatcatccatcgaaaatttagttccattcagatgcagctcaaacaaagcacttgtgaagcagttatgattttaagatcaaggttccttgatgccagacggaaaaggcgtaacttcagtaaacaggccacagaaatcttgaatgaatatttttactcacacctcagcaacccctaccccagtgaagaagccaaagaggagctggccaagaaatgcagcatcacagtgtcacaggtatccaattggtttggcaacaaacgaatcaggtacaagaagaacattggcaagtttcaggaagaagccaacctctatgctgcaaagacggccgtgacagctgcacacgcagtagcagcagctgtgcagaacaaccagaccaattcgcccaccacaccaaattccggttcttctggttcttttaacctcccaaattctggggacatgttcatgaacatgcagagtctgaatggggattcttaccaagggtcccaagtcggagccaatgtgcaatcacaggtggataccctccgtcatgttatcaatcagacgggaggctacagtgatggccttggaggaaattcactgtacagtccacataatttaaatgctaatggaggctggcaggacgcaacaactccatcttctgtgacttctcctacagaaggcccaggaagtgtgcactcggatacctctaactaatctctggccacacttttccctgagctacatgccttgataagtgcattcagagcaataggaggaaaaggaaagcgtttttgtagcccaccatctacagctttactgtaaaaccttgtcttattcgagaacttggtaaatctgttttttaaggaatcataatcatttgtatttatacttaaaaacacacaatgttaaaaaaaataaagcactttatccaattaggccaagatttaacattgttgacagtcctgtagctattttatcataatttattatcaatattttacattaatggtttcacagttgccaattacttggccttaagggtaaaaagtacaatatacactaaacctcaaccgttaaagcagatgcaaaaattcacctcacctaaattgaacttcttgcatatttccattactgacttggattgtctttctttcatatcactaatggagttggaataaagagctgtttgcctatccctgttaatgatggttgtgtttaagaatcttcctcgtcacgtttgtgttcagatctcttatgttataattagatcagagactggtagcatcgtttctctctctgaaagcaccagtgcccagagtctgctcggtaataaaattatggatccagattgttctgagagacgaagatacttgctgctgatagaggtgaaaacgagattgatccgtctggggttttacggtgtgcactgggtgctgcacagacttgtcaaggtttgctacgtcctctgggcatctgcaaaaggccctgctctctggagtgttgtatatagtgtagcaaaagagtatttatacatcccaccaatcaaaacacagctttattacctcatgcgaactcatacaaaccaatagaatttcaacatgttctgtagcttagagtgctcacttactacctctgaacaatactcacgctgtagtttgtctctttcttatctttttgcatcttgtaattaactctttgtttcccttcataaaatgtaatgtacattgtaatcttttaaaagaaaaatcagggttgcacttgcaacttttaaaaaaccgagtgtggaaacattgggtcttaattcaacacaggatcggtaaaactgttgtaaatactgagaaacattttgaatgttcttcatcttattactaatccatgcaaaaaaaaaaaaaaaagcagcgactaattgtgatgcattcagatttcagtattcagtactgtatatttcaccctgtgtaatggggccccctctcctttctctctttttgtattgtatgcgattctgaaactgattgagtcatgaaaataatttgtggcggtgattctaatgtattaaaaacgtttcgtgttcctttctaactggattacaccctggattgaaaaagtcttcctcgtggtagttatatgtagtttcaaacatgaataaactttttgctttcatgattaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa
//
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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@meso_cacase at
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