UniProtKB - P40424 (PBX1_HUMAN)
Pre-B-cell leukemia transcription factor 1
PBX1
Functioni
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 233 – 295 | Homeobox; TALE-typePROSITE-ProRule annotationAdd BLAST | 63 |
GO - Molecular functioni
- DNA binding Source: UniProtKB
- DNA-binding transcription activator activity, RNA polymerase II-specific Source: Ensembl
- DNA-binding transcription factor activity Source: ProtInc
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- protein heterodimerization activity Source: Ensembl
- RNA polymerase II proximal promoter sequence-specific DNA binding Source: Ensembl
- transcription factor binding Source: UniProtKB
GO - Biological processi
- adrenal gland development Source: Ensembl
- anterior/posterior pattern specification Source: Ensembl
- branching involved in ureteric bud morphogenesis Source: Ensembl
- embryonic hemopoiesis Source: Ensembl
- embryonic limb morphogenesis Source: Ensembl
- embryonic skeletal system development Source: Ensembl
- negative regulation of DNA-binding transcription factor activity Source: UniProtKB
- negative regulation of neuron differentiation Source: Ensembl
- positive regulation of cell population proliferation Source: Ensembl
- positive regulation of G2/M transition of mitotic cell cycle Source: Ensembl
- positive regulation of transcription of Notch receptor target Source: Reactome
- proximal/distal pattern formation Source: Ensembl
- regulation of ossification Source: Ensembl
- sex differentiation Source: UniProtKB-KW
- somatic stem cell population maintenance Source: Reactome
- spleen development Source: Ensembl
- steroid biosynthetic process Source: UniProtKB-KW
- thymus development Source: Ensembl
Keywordsi
Molecular function | Activator, Developmental protein, DNA-binding, Repressor |
Biological process | Differentiation, Sexual differentiation, Steroidogenesis, Transcription, Transcription regulation |
Enzyme and pathway databases
Reactomei | R-HSA-452723 Transcriptional regulation of pluripotent stem cells R-HSA-5617472 Activation of anterior HOX genes in hindbrain development during early embryogenesis R-HSA-9013508 NOTCH3 Intracellular Domain Regulates Transcription |
SignaLinki | P40424 |
SIGNORi | P40424 |
Names & Taxonomyi
Protein namesi | Recommended name: Pre-B-cell leukemia transcription factor 1Alternative name(s): Homeobox protein PBX1 Homeobox protein PRL |
Gene namesi | Name:PBX1 Synonyms:PRL |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:8632 PBX1 |
MIMi | 176310 gene |
neXtProti | NX_P40424 |
Subcellular locationi
Nucleus
- Nucleus 1 Publication
Nucleus
- nuclear chromatin Source: NTNU_SB
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
- RNA polymerase II transcription factor complex Source: NTNU_SB
Other locations
- cytoplasm Source: UniProtKB
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay (CAKUTHED)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_079369 | 184 – 430 | Missing in CAKUTHED; unknown pathological significance. 1 PublicationAdd BLAST | 247 |
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 88 – 89 | Breakpoint for translocation to form TCF3-PBX1 oncogene | 2 |
Keywords - Diseasei
Disease mutation, Proto-oncogeneOrganism-specific databases
DisGeNETi | 5087 |
MalaCardsi | PBX1 |
MIMi | 617641 phenotype |
OpenTargetsi | ENSG00000185630 |
Orphaneti | 99860 Precursor B-cell acute lymphoblastic leukemia 97362 Renal hypoplasia, bilateral |
PharmGKBi | PA32970 |
Miscellaneous databases
Pharosi | P40424 |
Polymorphism and mutation databases
BioMutai | PBX1 |
DMDMi | 730279 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000049235 | 1 – 430 | Pre-B-cell leukemia transcription factor 1Add BLAST | 430 |
Proteomic databases
EPDi | P40424 |
jPOSTi | P40424 |
MassIVEi | P40424 |
MaxQBi | P40424 |
PaxDbi | P40424 |
PeptideAtlasi | P40424 |
PRIDEi | P40424 |
ProteomicsDBi | 26680 55367 [P40424-1] 55368 [P40424-2] |
PTM databases
iPTMneti | P40424 |
PhosphoSitePlusi | P40424 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000185630 Expressed in 238 organ(s), highest expression level in myometrium |
ExpressionAtlasi | P40424 baseline and differential |
Genevisiblei | P40424 HS |
Organism-specific databases
HPAi | CAB018768 HPA003505 HPA003881 |
Interactioni
Subunit structurei
Forms a heterodimer with MEIS1 which binds DNA including a cAMP-responsive sequence in CYP17. Also forms heterotrimers with MEIS1 and a number of HOX proteins including HOXA9, HOXD4, HOXD9 and HOXD10.
Interacts with PBXIP1 and TLX1. Isoform PBX1a interacts with MEIS2 isoform 4, SP1, SP3 and KLF4. Isoform PBX1b is part of a PDX1:PBX1b:MEIS2b complex; PBX1b recruits Meis2B to the complex.
Interacts with FOXC1 (PubMed:15684392).
7 PublicationsBinary interactionsi
GO - Molecular functioni
- protein heterodimerization activity Source: Ensembl
- transcription factor binding Source: UniProtKB
Protein-protein interaction databases
BioGridi | 111120, 51 interactors |
IntActi | P40424, 28 interactors |
MINTi | P40424 |
STRINGi | 9606.ENSP00000405890 |
Structurei
Secondary structure
3D structure databases
SMRi | P40424 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P40424 |
Family & Domainsi
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 127 – 135 | Poly-Ala | 9 |
Sequence similaritiesi
Keywords - Domaini
HomeoboxPhylogenomic databases
eggNOGi | KOG0774 Eukaryota ENOG410XRVF LUCA |
GeneTreei | ENSGT00940000154374 |
HOGENOMi | HOG000266972 |
InParanoidi | P40424 |
KOi | K09355 |
OMAi | STPNSAX |
OrthoDBi | 804740at2759 |
PhylomeDBi | P40424 |
TreeFami | TF314340 |
Family and domain databases
CDDi | cd00086 homeodomain, 1 hit |
InterProi | View protein in InterPro IPR009057 Homeobox-like_sf IPR017970 Homeobox_CS IPR001356 Homeobox_dom IPR005542 PBX |
Pfami | View protein in Pfam PF00046 Homeodomain, 1 hit PF03792 PBC, 1 hit |
SMARTi | View protein in SMART SM00389 HOX, 1 hit |
SUPFAMi | SSF46689 SSF46689, 1 hit |
PROSITEi | View protein in PROSITE PS00027 HOMEOBOX_1, 1 hit PS50071 HOMEOBOX_2, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MDEQPRLMHS HAGVGMAGHP GLSQHLQDGA GGTEGEGGRK QDIGDILQQI
60 70 80 90 100
MTITDQSLDE AQARKHALNC HRMKPALFNV LCEIKEKTVL SIRGAQEEEP
110 120 130 140 150
TDPQLMRLDN MLLAEGVAGP EKGGGSAAAA AAAAASGGAG SDNSVEHSDY
160 170 180 190 200
RAKLSQIRQI YHTELEKYEQ ACNEFTTHVM NLLREQSRTR PISPKEIERM
210 220 230 240 250
VSIIHRKFSS IQMQLKQSTC EAVMILRSRF LDARRKRRNF NKQATEILNE
260 270 280 290 300
YFYSHLSNPY PSEEAKEELA KKCGITVSQV SNWFGNKRIR YKKNIGKFQE
310 320 330 340 350
EANIYAAKTA VTATNVSAHG SQANSPSTPN SAGSSSSFNM SNSGDLFMSV
360 370 380 390 400
QSLNGDSYQG AQVGANVQSQ VDTLRHVISQ TGGYSDGLAA SQMYSPQGIS
410 420 430
ANGGWQDATT PSSVTSPTEG PGSVHSDTSN
The sequence of this isoform differs from the canonical sequence as follows:
334-347: SSSSFNMSNSGDLF → GYPSPCYQPDRRIQ
348-430: Missing.
Computationally mapped potential isoform sequencesi
There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH0YLF5 | H0YLF5_HUMAN | Pre-B-cell leukemia transcription f... | PBX1 | 339 | Annotation score: | ||
A0A087X0P4 | A0A087X0P4_HUMAN | Pre-B-cell leukemia transcription f... | PBX1 | 259 | Annotation score: | ||
H0YLB0 | H0YLB0_HUMAN | Pre-B-cell leukemia transcription f... | PBX1 hCG_23011 | 325 | Annotation score: | ||
A0A0A0MTI0 | A0A0A0MTI0_HUMAN | Pre-B-cell leukemia transcription f... | PBX1 | 342 | Annotation score: | ||
F8WA05 | F8WA05_HUMAN | Pre-B-cell leukemia transcription f... | PBX1 | 170 | Annotation score: | ||
H0YLM3 | H0YLM3_HUMAN | Pre-B-cell leukemia transcription f... | PBX1 | 97 | Annotation score: | ||
H0YLD4 | H0YLD4_HUMAN | Pre-B-cell leukemia transcription f... | PBX1 | 128 | Annotation score: | ||
H0YKH1 | H0YKH1_HUMAN | Pre-B-cell leukemia transcription f... | PBX1 | 159 | Annotation score: | ||
H0YLT4 | H0YLT4_HUMAN | Pre-B-cell leukemia transcription f... | PBX1 | 138 | Annotation score: | ||
S4R377 | S4R377_HUMAN | Pre-B-cell leukemia transcription f... | PBX1 | 70 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 351 | Q → H in BAG61583 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_068904 | 31 | G → S1 PublicationCorresponds to variant dbSNP:rs2275558Ensembl. | 1 | |
Natural variantiVAR_079369 | 184 – 430 | Missing in CAKUTHED; unknown pathological significance. 1 PublicationAdd BLAST | 247 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_002271 | 334 – 347 | SSSSF…SGDLF → GYPSPCYQPDRRIQ in isoform PBX1b. CuratedAdd BLAST | 14 | |
Alternative sequenceiVSP_002272 | 348 – 430 | Missing in isoform PBX1b. CuratedAdd BLAST | 83 | |
Alternative sequenceiVSP_044499 | 401 – 430 | ANGGW…SDTSN → HLPRHPRQAHYHFRLPTWHP in isoform 3. 1 PublicationAdd BLAST | 30 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M86546 mRNA Translation: AAA60031.1 AF313404 AF313403 Genomic DNA Translation: AAG30941.1 AK299673 mRNA Translation: BAG61583.1 AL359255 Genomic DNA No translation available. AL390119 Genomic DNA No translation available. AL357568 Genomic DNA No translation available. AL391001 Genomic DNA No translation available. BC101578 mRNA Translation: AAI01579.1 M31522 mRNA Translation: AAA36764.1 Different initiation. |
CCDSi | CCDS1246.1 [P40424-1] CCDS55653.1 [P40424-3] CCDS55654.1 [P40424-2] |
PIRi | B34734 |
RefSeqi | NP_001191892.1, NM_001204963.1 [P40424-3] NP_002576.1, NM_002585.3 [P40424-1] XP_005245286.1, XM_005245229.3 [P40424-1] |
Genome annotation databases
Ensembli | ENST00000367897; ENSP00000356872; ENSG00000185630 [P40424-2] ENST00000420696; ENSP00000405890; ENSG00000185630 [P40424-1] ENST00000627490; ENSP00000485692; ENSG00000185630 [P40424-3] |
GeneIDi | 5087 |
KEGGi | hsa:5087 |
UCSCi | uc001gct.4 human [P40424-1] |
Keywords - Coding sequence diversityi
Alternative splicing, Chromosomal rearrangement, PolymorphismSimilar proteinsi
Cross-referencesi
Web resourcesi
Atlas of Genetics and Cytogenetics in Oncology and Haematology |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M86546 mRNA Translation: AAA60031.1 AF313404 AF313403 Genomic DNA Translation: AAG30941.1 AK299673 mRNA Translation: BAG61583.1 AL359255 Genomic DNA No translation available. AL390119 Genomic DNA No translation available. AL357568 Genomic DNA No translation available. AL391001 Genomic DNA No translation available. BC101578 mRNA Translation: AAI01579.1 M31522 mRNA Translation: AAA36764.1 Different initiation. |
CCDSi | CCDS1246.1 [P40424-1] CCDS55653.1 [P40424-3] CCDS55654.1 [P40424-2] |
PIRi | B34734 |
RefSeqi | NP_001191892.1, NM_001204963.1 [P40424-3] NP_002576.1, NM_002585.3 [P40424-1] XP_005245286.1, XM_005245229.3 [P40424-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1B72 | X-ray | 2.35 | B | 233-319 | [»] | |
1PUF | X-ray | 1.90 | B | 233-305 | [»] | |
SMRi | P40424 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGridi | 111120, 51 interactors |
IntActi | P40424, 28 interactors |
MINTi | P40424 |
STRINGi | 9606.ENSP00000405890 |
PTM databases
iPTMneti | P40424 |
PhosphoSitePlusi | P40424 |
Polymorphism and mutation databases
BioMutai | PBX1 |
DMDMi | 730279 |
Proteomic databases
EPDi | P40424 |
jPOSTi | P40424 |
MassIVEi | P40424 |
MaxQBi | P40424 |
PaxDbi | P40424 |
PeptideAtlasi | P40424 |
PRIDEi | P40424 |
ProteomicsDBi | 26680 55367 [P40424-1] 55368 [P40424-2] |
Protocols and materials databases
DNASUi | 5087 |
Genome annotation databases
Ensembli | ENST00000367897; ENSP00000356872; ENSG00000185630 [P40424-2] ENST00000420696; ENSP00000405890; ENSG00000185630 [P40424-1] ENST00000627490; ENSP00000485692; ENSG00000185630 [P40424-3] |
GeneIDi | 5087 |
KEGGi | hsa:5087 |
UCSCi | uc001gct.4 human [P40424-1] |
Organism-specific databases
CTDi | 5087 |
DisGeNETi | 5087 |
GeneCardsi | PBX1 |
HGNCi | HGNC:8632 PBX1 |
HPAi | CAB018768 HPA003505 HPA003881 |
MalaCardsi | PBX1 |
MIMi | 176310 gene 617641 phenotype |
neXtProti | NX_P40424 |
OpenTargetsi | ENSG00000185630 |
Orphaneti | 99860 Precursor B-cell acute lymphoblastic leukemia 97362 Renal hypoplasia, bilateral |
PharmGKBi | PA32970 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0774 Eukaryota ENOG410XRVF LUCA |
GeneTreei | ENSGT00940000154374 |
HOGENOMi | HOG000266972 |
InParanoidi | P40424 |
KOi | K09355 |
OMAi | STPNSAX |
OrthoDBi | 804740at2759 |
PhylomeDBi | P40424 |
TreeFami | TF314340 |
Enzyme and pathway databases
Reactomei | R-HSA-452723 Transcriptional regulation of pluripotent stem cells R-HSA-5617472 Activation of anterior HOX genes in hindbrain development during early embryogenesis R-HSA-9013508 NOTCH3 Intracellular Domain Regulates Transcription |
SignaLinki | P40424 |
SIGNORi | P40424 |
Miscellaneous databases
ChiTaRSi | PBX1 human |
EvolutionaryTracei | P40424 |
GeneWikii | PBX1 |
GenomeRNAii | 5087 |
Pharosi | P40424 |
PROi | PR:P40424 |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000185630 Expressed in 238 organ(s), highest expression level in myometrium |
ExpressionAtlasi | P40424 baseline and differential |
Genevisiblei | P40424 HS |
Family and domain databases
CDDi | cd00086 homeodomain, 1 hit |
InterProi | View protein in InterPro IPR009057 Homeobox-like_sf IPR017970 Homeobox_CS IPR001356 Homeobox_dom IPR005542 PBX |
Pfami | View protein in Pfam PF00046 Homeodomain, 1 hit PF03792 PBC, 1 hit |
SMARTi | View protein in SMART SM00389 HOX, 1 hit |
SUPFAMi | SSF46689 SSF46689, 1 hit |
PROSITEi | View protein in PROSITE PS00027 HOMEOBOX_1, 1 hit PS50071 HOMEOBOX_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | PBX1_HUMAN | |
Accessioni | P40424Primary (citable) accession number: P40424 Secondary accession number(s): B4DSC1, F5H4U9, Q5T488 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 1, 1995 |
Last sequence update: | February 1, 1995 | |
Last modified: | November 13, 2019 | |
This is version 205 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Complete proteome, Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - SIMILARITY comments
Index of protein domains and families - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references