PBX3_HUMAN
ID PBX3_HUMAN Reviewed; 434 AA.
AC P40426; E9PB27; Q5JSA0; Q5JSA1; Q5VXL3; Q96PF9; Q96PG0;
DT 01-FEB-1995, integrated into UniProtKB/Swiss-Prot.
DT 01-FEB-1995, sequence version 1.
DT 03-AUG-2022, entry version 192.
DE RecName: Full=Pre-B-cell leukemia transcription factor 3;
DE AltName: Full=Homeobox protein PBX3;
GN Name=PBX3;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS PBX3A AND PBX3B).
RX PubMed=1682799; DOI=10.1128/mcb.11.12.6149-6157.1991;
RA Monica K., Galili N., Nourse J., Saltman D., Cleary M.L.;
RT "PBX2 and PBX3, new homeobox genes with extensive homology to the human
RT proto-oncogene PBX1.";
RL Mol. Cell. Biol. 11:6149-6157(1991).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS PBX3C AND PBX3D).
RX PubMed=11579467; DOI=10.1002/gcc.1190;
RA Milech N., Kees U.R., Watt P.M.;
RT "Novel alternative PBX3 isoforms in leukemia cells with distinct
RT interaction specificities.";
RL Genes Chromosomes Cancer 32:275-280(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS PBX3C AND 5).
RC TISSUE=Adrenal gland, and Teratocarcinoma;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM PBX3A).
RC TISSUE=Blood;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP CHARACTERIZATION.
RX PubMed=7910944; DOI=10.1128/mcb.14.6.3938-3948.1994;
RA Lu Q., Wright D.D., Kamps M.P.;
RT "Fusion with E2A converts the Pbx1 homeodomain protein into a constitutive
RT transcriptional activator in human leukemias carrying the t(1;19)
RT translocation.";
RL Mol. Cell. Biol. 14:3938-3948(1994).
RN [7]
RP INTERACTION WITH PBXIP1.
RX PubMed=10825160; DOI=10.1074/jbc.m001323200;
RA Abramovich C., Shen W.-F., Pineault N., Imren S., Montpetit B., Largman C.,
RA Humphries R.K.;
RT "Functional cloning and characterization of a novel nonhomeodomain protein
RT that inhibits the binding of PBX1-HOX complexes to DNA.";
RL J. Biol. Chem. 275:26172-26177(2000).
CC -!- FUNCTION: Transcriptional activator that binds the sequence 5'-
CC ATCAATCAA-3'.
CC -!- SUBUNIT: Interacts with PBXIP1. {ECO:0000269|PubMed:10825160}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=PBX3a;
CC IsoId=P40426-1; Sequence=Displayed;
CC Name=PBX3b;
CC IsoId=P40426-2; Sequence=VSP_002276, VSP_002277;
CC Name=PBX3c;
CC IsoId=P40426-3; Sequence=VSP_002275;
CC Name=PBX3d;
CC IsoId=P40426-4; Sequence=VSP_002275, VSP_002276, VSP_002277;
CC Name=5;
CC IsoId=P40426-5; Sequence=VSP_046311;
CC -!- TISSUE SPECIFICITY: Ubiquitously expressed.
CC -!- SIMILARITY: Belongs to the TALE/PBX homeobox family. {ECO:0000305}.
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DR EMBL; X59841; CAA42502.1; -; mRNA.
DR EMBL; AF355141; AAL09477.1; -; mRNA.
DR EMBL; AF355142; AAL09478.1; -; mRNA.
DR EMBL; AK289376; BAF82065.1; -; mRNA.
DR EMBL; AK309713; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AL358074; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL445186; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL627303; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC094883; AAH94883.1; -; mRNA.
DR CCDS; CCDS48021.1; -. [P40426-5]
DR CCDS; CCDS6865.1; -. [P40426-1]
DR CCDS; CCDS83416.1; -. [P40426-2]
DR PIR; S19010; S19010.
DR RefSeq; NP_001128250.1; NM_001134778.1. [P40426-5]
DR RefSeq; NP_001317711.1; NM_001330782.1. [P40426-2]
DR RefSeq; NP_006186.1; NM_006195.5. [P40426-1]
DR AlphaFoldDB; P40426; -.
DR SMR; P40426; -.
DR BioGRID; 111123; 85.
DR IntAct; P40426; 16.
DR MINT; P40426; -.
DR STRING; 9606.ENSP00000362588; -.
DR iPTMnet; P40426; -.
DR PhosphoSitePlus; P40426; -.
DR BioMuta; PBX3; -.
DR DMDM; 730281; -.
DR EPD; P40426; -.
DR jPOST; P40426; -.
DR MassIVE; P40426; -.
DR MaxQB; P40426; -.
DR PaxDb; P40426; -.
DR PeptideAtlas; P40426; -.
DR PRIDE; P40426; -.
DR ProteomicsDB; 19129; -.
DR ProteomicsDB; 55370; -. [P40426-1]
DR ProteomicsDB; 55371; -. [P40426-2]
DR ProteomicsDB; 55372; -. [P40426-3]
DR ProteomicsDB; 55373; -. [P40426-4]
DR Antibodypedia; 16509; 211 antibodies from 26 providers.
DR DNASU; 5090; -.
DR Ensembl; ENST00000342287.9; ENSP00000341990.5; ENSG00000167081.18. [P40426-2]
DR Ensembl; ENST00000373489.10; ENSP00000362588.5; ENSG00000167081.18. [P40426-1]
DR Ensembl; ENST00000447726.6; ENSP00000387456.2; ENSG00000167081.18. [P40426-5]
DR GeneID; 5090; -.
DR KEGG; hsa:5090; -.
DR MANE-Select; ENST00000373489.10; ENSP00000362588.5; NM_006195.6; NP_006186.1.
DR UCSC; uc004bqb.4; human. [P40426-1]
DR CTD; 5090; -.
DR DisGeNET; 5090; -.
DR GeneCards; PBX3; -.
DR HGNC; HGNC:8634; PBX3.
DR HPA; ENSG00000167081; Tissue enhanced (parathyroid).
DR MIM; 176312; gene.
DR neXtProt; NX_P40426; -.
DR OpenTargets; ENSG00000167081; -.
DR PharmGKB; PA32972; -.
DR VEuPathDB; HostDB:ENSG00000167081; -.
DR eggNOG; KOG0774; Eukaryota.
DR GeneTree; ENSGT00940000154374; -.
DR HOGENOM; CLU_041153_1_0_1; -.
DR InParanoid; P40426; -.
DR PhylomeDB; P40426; -.
DR TreeFam; TF314340; -.
DR PathwayCommons; P40426; -.
DR SignaLink; P40426; -.
DR SIGNOR; P40426; -.
DR BioGRID-ORCS; 5090; 10 hits in 1094 CRISPR screens.
DR ChiTaRS; PBX3; human.
DR GeneWiki; PBX3; -.
DR GenomeRNAi; 5090; -.
DR Pharos; P40426; Tbio.
DR PRO; PR:P40426; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; P40426; protein.
DR Bgee; ENSG00000167081; Expressed in left ovary and 175 other tissues.
DR ExpressionAtlas; P40426; baseline and differential.
DR Genevisible; P40426; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0005667; C:transcription regulator complex; IEA:Ensembl.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IEA:Ensembl.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0008344; P:adult locomotory behavior; IEA:Ensembl.
DR GO; GO:0009887; P:animal organ morphogenesis; IBA:GO_Central.
DR GO; GO:0007387; P:anterior compartment pattern formation; TAS:ProtInc.
DR GO; GO:0007420; P:brain development; IBA:GO_Central.
DR GO; GO:0021516; P:dorsal spinal cord development; IEA:Ensembl.
DR GO; GO:0048568; P:embryonic organ development; IBA:GO_Central.
DR GO; GO:0001654; P:eye development; IBA:GO_Central.
DR GO; GO:0048666; P:neuron development; IBA:GO_Central.
DR GO; GO:0007388; P:posterior compartment specification; TAS:ProtInc.
DR GO; GO:0002087; P:regulation of respiratory gaseous exchange by nervous system process; IEA:Ensembl.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0007585; P:respiratory gaseous exchange by respiratory system; IEA:Ensembl.
DR CDD; cd00086; homeodomain; 1.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR005542; PBX.
DR Pfam; PF00046; Homeodomain; 1.
DR Pfam; PF03792; PBC; 1.
DR SMART; SM00389; HOX; 1.
DR SUPFAM; SSF46689; SSF46689; 1.
DR PROSITE; PS00027; HOMEOBOX_1; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
DR PROSITE; PS51978; PBC; 1.
PE 1: Evidence at protein level;
KW Activator; Alternative splicing; DNA-binding; Homeobox; Nucleus;
KW Reference proteome; Transcription; Transcription regulation.
FT CHAIN 1..434
FT /note="Pre-B-cell leukemia transcription factor 3"
FT /id="PRO_0000049239"
FT DOMAIN 41..234
FT /note="PBC"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01322"
FT DNA_BIND 235..297
FT /note="Homeobox; TALE-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 20..41
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 48..127
FT /note="PBC-A"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01322"
FT REGION 130..234
FT /note="PBC-B"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01322"
FT REGION 326..349
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 403..434
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..181
FT /note="Missing (in isoform PBX3c and isoform PBX3d)"
FT /evidence="ECO:0000303|PubMed:11579467,
FT ECO:0000303|PubMed:14702039"
FT /id="VSP_002275"
FT VAR_SEQ 1..75
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_046311"
FT VAR_SEQ 338..351
FT /note="SSGSFNLPNSGDMF -> GYPPSCYQSDGRLQ (in isoform PBX3b
FT and isoform PBX3d)"
FT /evidence="ECO:0000303|PubMed:11579467,
FT ECO:0000303|PubMed:1682799"
FT /id="VSP_002276"
FT VAR_SEQ 352..434
FT /note="Missing (in isoform PBX3b and isoform PBX3d)"
FT /evidence="ECO:0000303|PubMed:11579467,
FT ECO:0000303|PubMed:1682799"
FT /id="VSP_002277"
FT CONFLICT 323
FT /note="V -> A (in Ref. 2; AAL09477)"
FT /evidence="ECO:0000305"
FT CONFLICT 398
FT /note="Y -> C (in Ref. 2; AAL09477)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 434 AA; 47190 MW; 81987E4C80C22069 CRC64;
MDDQSRMLQT LAGVNLAGHS VQGGMALPPP PHGHEGADGD GRKQDIGDIL HQIMTITDQS
LDEAQAKKHA LNCHRMKPAL FSVLCEIKEK TGLSIRGAQE EDPPDPQLMR LDNMLLAEGV
SGPEKGGGSA AAAAAAAASG GSSDNSIEHS DYRAKLTQIR QIYHTELEKY EQACNEFTTH
VMNLLREQSR TRPISPKEIE RMVGIIHRKF SSIQMQLKQS TCEAVMILRS RFLDARRKRR
NFSKQATEIL NEYFYSHLSN PYPSEEAKEE LAKKCSITVS QVSNWFGNKR IRYKKNIGKF
QEEANLYAAK TAVTAAHAVA AAVQNNQTNS PTTPNSGSSG SFNLPNSGDM FMNMQSLNGD
SYQGSQVGAN VQSQVDTLRH VINQTGGYSD GLGGNSLYSP HNLNANGGWQ DATTPSSVTS
PTEGPGSVHS DTSN
