PBX4_HUMAN
ID PBX4_HUMAN Reviewed; 374 AA.
AC Q9BYU1; A5D8Y0; B3KUK9;
DT 24-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT 09-JAN-2007, sequence version 2.
DT 03-AUG-2022, entry version 174.
DE RecName: Full=Pre-B-cell leukemia transcription factor 4;
DE AltName: Full=Homeobox protein PBX4;
GN Name=PBX4;
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 [LARGE SCALE MRNA].
RC TISSUE=Testis;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 [4]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 45-374.
RX PubMed=11335119; DOI=10.1016/s0925-4773(01)00349-5;
RA Wagner K., Mincheva A., Korn B., Lichter P., Poepperl H.;
RT "Pbx4, a new Pbx family member on mouse chromosome 8 is expressed during
RT spermatogenesis.";
RL Mech. Dev. 103:127-131(2001).
RN [5]
RP VARIANT [LARGE SCALE ANALYSIS] MET-283.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- INTERACTION:
CC Q9BYU1; Q9NR81: ARHGEF3; NbExp=3; IntAct=EBI-10302990, EBI-10312733;
CC Q9BYU1; P41182: BCL6; NbExp=3; IntAct=EBI-10302990, EBI-765407;
CC Q9BYU1; Q13515: BFSP2; NbExp=3; IntAct=EBI-10302990, EBI-10229433;
CC Q9BYU1; Q9NWQ9: C14orf119; NbExp=3; IntAct=EBI-10302990, EBI-725606;
CC Q9BYU1; Q9NX04: C1orf109; NbExp=5; IntAct=EBI-10302990, EBI-8643161;
CC Q9BYU1; Q9NUG4: CCM2L; NbExp=5; IntAct=EBI-10302990, EBI-350645;
CC Q9BYU1; P42773: CDKN2C; NbExp=3; IntAct=EBI-10302990, EBI-711290;
CC Q9BYU1; Q9Y6H1: CHCHD2; NbExp=3; IntAct=EBI-10302990, EBI-2321769;
CC Q9BYU1; P51800-3: CLCNKA; NbExp=3; IntAct=EBI-10302990, EBI-11980535;
CC Q9BYU1; Q9UBL6-2: CPNE7; NbExp=3; IntAct=EBI-10302990, EBI-12012272;
CC Q9BYU1; Q01658: DR1; NbExp=3; IntAct=EBI-10302990, EBI-750300;
CC Q9BYU1; Q8N9N8: EIF1AD; NbExp=3; IntAct=EBI-10302990, EBI-750700;
CC Q9BYU1; O00303: EIF3F; NbExp=3; IntAct=EBI-10302990, EBI-711990;
CC Q9BYU1; Q8IYI6: EXOC8; NbExp=3; IntAct=EBI-10302990, EBI-742102;
CC Q9BYU1; P35637: FUS; NbExp=3; IntAct=EBI-10302990, EBI-400434;
CC Q9BYU1; Q8TAE8: GADD45GIP1; NbExp=3; IntAct=EBI-10302990, EBI-372506;
CC Q9BYU1; P55040: GEM; NbExp=3; IntAct=EBI-10302990, EBI-744104;
CC Q9BYU1; Q9BRT9: GINS4; NbExp=3; IntAct=EBI-10302990, EBI-747500;
CC Q9BYU1; O95872: GPANK1; NbExp=3; IntAct=EBI-10302990, EBI-751540;
CC Q9BYU1; Q00403: GTF2B; NbExp=3; IntAct=EBI-10302990, EBI-389564;
CC Q9BYU1; Q9Y5Q9: GTF3C3; NbExp=3; IntAct=EBI-10302990, EBI-1054873;
CC Q9BYU1; P14652: HOXB2; NbExp=3; IntAct=EBI-10302990, EBI-5329558;
CC Q9BYU1; P09067: HOXB5; NbExp=3; IntAct=EBI-10302990, EBI-3893317;
CC Q9BYU1; Q00444: HOXC5; NbExp=3; IntAct=EBI-10302990, EBI-11955357;
CC Q9BYU1; P31273: HOXC8; NbExp=3; IntAct=EBI-10302990, EBI-1752118;
CC Q9BYU1; P09016: HOXD4; NbExp=3; IntAct=EBI-10302990, EBI-12822515;
CC Q9BYU1; C9JCN9: HSBP1L1; NbExp=3; IntAct=EBI-10302990, EBI-2685549;
CC Q9BYU1; P42858: HTT; NbExp=3; IntAct=EBI-10302990, EBI-466029;
CC Q9BYU1; Q8IY31-3: IFT20; NbExp=3; IntAct=EBI-10302990, EBI-9091197;
CC Q9BYU1; O94829: IPO13; NbExp=8; IntAct=EBI-10302990, EBI-747310;
CC Q9BYU1; O60341: KDM1A; NbExp=3; IntAct=EBI-10302990, EBI-710124;
CC Q9BYU1; Q2WGJ6: KLHL38; NbExp=3; IntAct=EBI-10302990, EBI-6426443;
CC Q9BYU1; P25791-3: LMO2; NbExp=3; IntAct=EBI-10302990, EBI-11959475;
CC Q9BYU1; Q96A72: MAGOHB; NbExp=3; IntAct=EBI-10302990, EBI-746778;
CC Q9BYU1; P45984: MAPK9; NbExp=3; IntAct=EBI-10302990, EBI-713568;
CC Q9BYU1; O95983-2: MBD3; NbExp=3; IntAct=EBI-10302990, EBI-11978579;
CC Q9BYU1; O14770-4: MEIS2; NbExp=6; IntAct=EBI-10302990, EBI-8025850;
CC Q9BYU1; Q8TD10: MIPOL1; NbExp=3; IntAct=EBI-10302990, EBI-2548751;
CC Q9BYU1; O43639: NCK2; NbExp=3; IntAct=EBI-10302990, EBI-713635;
CC Q9BYU1; Q9HC98-4: NEK6; NbExp=3; IntAct=EBI-10302990, EBI-11750983;
CC Q9BYU1; P61970: NUTF2; NbExp=3; IntAct=EBI-10302990, EBI-591778;
CC Q9BYU1; Q9UNF0: PACSIN2; NbExp=3; IntAct=EBI-10302990, EBI-742503;
CC Q9BYU1; Q9NRD5: PICK1; NbExp=3; IntAct=EBI-10302990, EBI-79165;
CC Q9BYU1; Q8WWB5: PIH1D2; NbExp=6; IntAct=EBI-10302990, EBI-10232538;
CC Q9BYU1; Q92569: PIK3R3; NbExp=3; IntAct=EBI-10302990, EBI-79893;
CC Q9BYU1; P55347: PKNOX1; NbExp=5; IntAct=EBI-10302990, EBI-1373569;
CC Q9BYU1; Q96KN3: PKNOX2; NbExp=3; IntAct=EBI-10302990, EBI-2692890;
CC Q9BYU1; O60437: PPL; NbExp=3; IntAct=EBI-10302990, EBI-368321;
CC Q9BYU1; P62877: RBX1; NbExp=3; IntAct=EBI-10302990, EBI-398523;
CC Q9BYU1; Q0D2K3: RIPPLY1; NbExp=3; IntAct=EBI-10302990, EBI-10226430;
CC Q9BYU1; Q5TAB7: RIPPLY2; NbExp=5; IntAct=EBI-10302990, EBI-10246897;
CC Q9BYU1; Q9BWG6: SCNM1; NbExp=3; IntAct=EBI-10302990, EBI-748391;
CC Q9BYU1; Q9UHV2: SERTAD1; NbExp=3; IntAct=EBI-10302990, EBI-748601;
CC Q9BYU1; Q96GM5: SMARCD1; NbExp=3; IntAct=EBI-10302990, EBI-358489;
CC Q9BYU1; P00441: SOD1; NbExp=3; IntAct=EBI-10302990, EBI-990792;
CC Q9BYU1; Q5MJ10: SPANXN2; NbExp=3; IntAct=EBI-10302990, EBI-12023934;
CC Q9BYU1; Q5MJ09: SPANXN3; NbExp=3; IntAct=EBI-10302990, EBI-12037215;
CC Q9BYU1; Q9NZD8: SPG21; NbExp=3; IntAct=EBI-10302990, EBI-742688;
CC Q9BYU1; Q13148: TARDBP; NbExp=6; IntAct=EBI-10302990, EBI-372899;
CC Q9BYU1; Q9UBB9: TFIP11; NbExp=9; IntAct=EBI-10302990, EBI-1105213;
CC Q9BYU1; Q8WV44: TRIM41; NbExp=3; IntAct=EBI-10302990, EBI-725997;
CC Q9BYU1; Q8WW01: TSEN15; NbExp=3; IntAct=EBI-10302990, EBI-372432;
CC Q9BYU1; Q96PN8: TSSK3; NbExp=3; IntAct=EBI-10302990, EBI-3918381;
CC Q9BYU1; O14530: TXNDC9; NbExp=5; IntAct=EBI-10302990, EBI-707554;
CC Q9BYU1; P0CB47: UBTFL1; NbExp=3; IntAct=EBI-10302990, EBI-17208936;
CC Q9BYU1; Q8N6Y0: USHBP1; NbExp=3; IntAct=EBI-10302990, EBI-739895;
CC Q9BYU1; A0A024R8A9: USP20; NbExp=3; IntAct=EBI-10302990, EBI-14096082;
CC Q9BYU1; Q9NZC7-5: WWOX; NbExp=3; IntAct=EBI-10302990, EBI-12040603;
CC Q9BYU1; Q9Y3S2: ZNF330; NbExp=3; IntAct=EBI-10302990, EBI-373456;
CC Q9BYU1; A0A384ME25; NbExp=3; IntAct=EBI-10302990, EBI-10211777;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
CC -!- SIMILARITY: Belongs to the TALE/PBX homeobox family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BC033067; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AK097427; BAG53471.1; -; mRNA.
DR EMBL; BC033067; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; CH471106; EAW84835.1; -; Genomic_DNA.
DR EMBL; BC141859; AAI41860.1; -; mRNA.
DR EMBL; AJ300182; CAC28212.1; -; mRNA.
DR CCDS; CCDS12406.1; -.
DR RefSeq; NP_079521.1; NM_025245.2.
DR AlphaFoldDB; Q9BYU1; -.
DR SMR; Q9BYU1; -.
DR BioGRID; 123272; 78.
DR IntAct; Q9BYU1; 75.
DR STRING; 9606.ENSP00000251203; -.
DR iPTMnet; Q9BYU1; -.
DR PhosphoSitePlus; Q9BYU1; -.
DR BioMuta; PBX4; -.
DR DMDM; 122065777; -.
DR jPOST; Q9BYU1; -.
DR MassIVE; Q9BYU1; -.
DR MaxQB; Q9BYU1; -.
DR PaxDb; Q9BYU1; -.
DR PeptideAtlas; Q9BYU1; -.
DR PRIDE; Q9BYU1; -.
DR ProteomicsDB; 79709; -.
DR Antibodypedia; 28510; 90 antibodies from 24 providers.
DR DNASU; 80714; -.
DR Ensembl; ENST00000251203.14; ENSP00000251203.5; ENSG00000105717.14.
DR GeneID; 80714; -.
DR KEGG; hsa:80714; -.
DR MANE-Select; ENST00000251203.14; ENSP00000251203.5; NM_025245.3; NP_079521.1.
DR UCSC; uc002nmy.4; human.
DR CTD; 80714; -.
DR DisGeNET; 80714; -.
DR GeneCards; PBX4; -.
DR HGNC; HGNC:13403; PBX4.
DR HPA; ENSG00000105717; Tissue enhanced (testis, thyroid gland).
DR MIM; 608127; gene.
DR neXtProt; NX_Q9BYU1; -.
DR OpenTargets; ENSG00000105717; -.
DR PharmGKB; PA32973; -.
DR VEuPathDB; HostDB:ENSG00000105717; -.
DR eggNOG; KOG0774; Eukaryota.
DR GeneTree; ENSGT00940000162643; -.
DR HOGENOM; CLU_041153_1_0_1; -.
DR InParanoid; Q9BYU1; -.
DR OMA; IYMGKTA; -.
DR OrthoDB; 804740at2759; -.
DR PhylomeDB; Q9BYU1; -.
DR TreeFam; TF314340; -.
DR PathwayCommons; Q9BYU1; -.
DR SignaLink; Q9BYU1; -.
DR SIGNOR; Q9BYU1; -.
DR BioGRID-ORCS; 80714; 20 hits in 1090 CRISPR screens.
DR ChiTaRS; PBX4; human.
DR GenomeRNAi; 80714; -.
DR Pharos; Q9BYU1; Tbio.
DR PRO; PR:Q9BYU1; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q9BYU1; protein.
DR Bgee; ENSG00000105717; Expressed in right lobe of thyroid gland and 103 other tissues.
DR ExpressionAtlas; Q9BYU1; baseline and differential.
DR Genevisible; Q9BYU1; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IC:BHF-UCL.
DR GO; GO:0001741; C:XY body; 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:0043565; F:sequence-specific DNA binding; ISS:BHF-UCL.
DR GO; GO:0009887; P:animal organ morphogenesis; IBA:GO_Central.
DR GO; GO:0007420; P:brain development; IBA:GO_Central.
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:0045893; P:positive regulation of transcription, DNA-templated; IC:BHF-UCL.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR CDD; cd00086; homeodomain; 1.
DR InterPro; IPR009057; Homeobox-like_sf.
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; PS50071; HOMEOBOX_2; 1.
DR PROSITE; PS51978; PBC; 1.
PE 1: Evidence at protein level;
KW Activator; DNA-binding; Homeobox; Nucleus; Reference proteome;
KW Transcription; Transcription regulation.
FT CHAIN 1..374
FT /note="Pre-B-cell leukemia transcription factor 4"
FT /id="PRO_0000049241"
FT DOMAIN 14..209
FT /note="PBC"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01322"
FT DNA_BIND 210..272
FT /note="Homeobox; TALE-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 21..100
FT /note="PBC-A"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01322"
FT REGION 103..209
FT /note="PBC-B"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01322"
FT REGION 333..374
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 337..374
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 169
FT /note="V -> I (in dbSNP:rs8108180)"
FT /id="VAR_059355"
FT VARIANT 177
FT /note="M -> V (in dbSNP:rs8108981)"
FT /id="VAR_059356"
FT VARIANT 283
FT /note="T -> M (in a colorectal cancer sample; somatic
FT mutation; dbSNP:rs376647012)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_036439"
FT CONFLICT 368
FT /note="I -> T (in Ref. 1; BAG53471)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 374 AA; 40854 MW; B9CE8BE93D0B7ABC CRC64;
MAAPPRPAPS PPAPRRLDTS DVLQQIMAIT DQSLDEAQAR KHALNCHRMK PALFSVLCEI
KEKTVVSIRG IQDEDPPDAQ LLRLDNMLLA EGVCRPEKRG RGGAVARAGT ATPGGCPNDN
SIEHSDYRAK LSQIRQIYHS ELEKYEQACR EFTTHVTNLL QEQSRMRPVS PKEIERMVGA
IHGKFSAIQM QLKQSTCEAV MTLRSRLLDA RRKRRNFSKQ ATEVLNEYFY SHLNNPYPSE
EAKEELARKG GLTISQVSNW FGNKRIRYKK NMGKFQEEAT IYTGKTAVDT TEVGVPGNHA
SCLSTPSSGS SGPFPLPSAG DAFLTLRTLA SLQPPPGGGC LQSQAQGSWQ GATPQPATAS
PAGDPGSINS STSN
