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Protein

Pre-B-cell leukemia transcription factor 1

Gene

PBX1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Binds the sequence 5'-ATCAATCAA-3'. Acts as a transcriptional activator of PF4 in complex with MEIS1. Converted into a potent transcriptional activator by the (1;19) translocation. May have a role in steroidogenesis and, subsequently, sexual development and differentiation. Isoform PBX1b as part of a PDX1:PBX1b:MEIS2b complex in pancreatic acinar cells is involved in the transcriptional activation of the ELA1 enhancer; the complex binds to the enhancer B element and cooperates with the transcription factor 1 complex (PTF1) bound to the enhancer A element. Probably in complex with MEIS2, is involved in transcriptional regulation by KLF4. Acts as a transcriptional activator of NKX2-5 and a transcriptional repressor of CDKN2B. Together with NKX2-5, it is required for spleen development through a mechanism that involves CDKN2B repression (By similarity).By similarity2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi233 – 295Homeobox; TALE-typePROSITE-ProRule annotationAdd BLAST63

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Activator, Developmental protein, Repressor

Keywords - Biological processi

Differentiation, Sexual differentiation, Steroidogenesis, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000167081-MONOMER.
ReactomeiR-HSA-452723. Transcriptional regulation of pluripotent stem cells.
R-HSA-5617472. Activation of anterior HOX genes in hindbrain development during early embryogenesis.
SignaLinkiP40424.
SIGNORiP40424.

Names & Taxonomyi

Protein namesi
Recommended name:
Pre-B-cell leukemia transcription factor 1
Alternative name(s):
Homeobox protein PBX1
Homeobox protein PRL
Gene namesi
Name:PBX1
Synonyms:PRL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:8632. PBX1.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • nucleoplasm Source: Reactome
  • nucleus Source: UniProtKB
  • transcription factor complex Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving PBX1 is a cause of pre-B-cell acute lymphoblastic leukemia (B-ALL). Translocation t(1;19)(q23;p13.3) with TCF3. TCF3-PBX1 transforms cells by constitutively activating transcription of genes regulated by PBX1 or by other members of the PBX protein family.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei88 – 89Breakpoint for translocation to form TCF3-PBX1 oncogene2

Keywords - Diseasei

Proto-oncogene

Organism-specific databases

DisGeNETi5087.
MalaCardsiPBX1.
OpenTargetsiENSG00000185630.
Orphaneti99860. Precursor B-cell acute lymphoblastic leukemia.
PharmGKBiPA32970.

Polymorphism and mutation databases

BioMutaiPBX1.
DMDMi730279.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000492351 – 430Pre-B-cell leukemia transcription factor 1Add BLAST430

Proteomic databases

EPDiP40424.
MaxQBiP40424.
PaxDbiP40424.
PeptideAtlasiP40424.
PRIDEiP40424.

PTM databases

iPTMnetiP40424.
PhosphoSitePlusiP40424.

Expressioni

Tissue specificityi

Expressed in all tissues except in cells of the B and T lineage.

Gene expression databases

BgeeiENSG00000185630.
CleanExiHS_PBX1.
HS_PRL.
ExpressionAtlasiP40424. baseline and differential.
GenevisibleiP40424. HS.

Organism-specific databases

HPAiCAB018768.
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.6 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
FOXC1Q129485EBI-301611,EBI-1175253
MEIS2O14770-46EBI-301611,EBI-8025850
TLX1P313142EBI-6390251,EBI-2820655

GO - Molecular functioni

  • transcription factor binding Source: UniProtKB

Protein-protein interaction databases

BioGridi111120. 44 interactors.
IntActiP40424. 19 interactors.
MINTiMINT-1532549.
STRINGi9606.ENSP00000405890.

Structurei

Secondary structure

1430
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi242 – 254Combined sources13
Turni255 – 257Combined sources3
Helixi263 – 273Combined sources11
Helixi277 – 293Combined sources17
Turni295 – 300Combined sources6
Helixi301 – 304Combined sources4

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1B72X-ray2.35B233-319[»]
1PUFX-ray1.90B233-305[»]
ProteinModelPortaliP40424.
SMRiP40424.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP40424.

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi127 – 135Poly-Ala9

Sequence similaritiesi

Belongs to the TALE/PBX homeobox family.Curated
Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0774. Eukaryota.
ENOG410XRVF. LUCA.
GeneTreeiENSGT00390000016426.
HOGENOMiHOG000266972.
HOVERGENiHBG000122.
InParanoidiP40424.
KOiK09355.
OMAiTASQMYS.
OrthoDBiEOG091G10TD.
PhylomeDBiP40424.
TreeFamiTF314340.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR005542. PBX.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
PF03792. PBC. 1 hit.
[Graphical view]
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform PBX1a (identifier: P40424-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:430
Mass (Da):46,626
Last modified:February 1, 1995 - v1
Checksum:iAD3FFACBC5A9E715
GO
Isoform PBX1b (identifier: P40424-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     334-347: SSSSFNMSNSGDLF → GYPSPCYQPDRRIQ
     348-430: Missing.

Show »
Length:347
Mass (Da):38,427
Checksum:iC4A2BDDD4A410C20
GO
Isoform 3 (identifier: P40424-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     401-430: ANGGWQDATTPSSVTSPTEGPGSVHSDTSN → HLPRHPRQAHYHFRLPTWHP

Note: No experimental confirmation available.
Show »
Length:420
Mass (Da):46,265
Checksum:i1CC4B8B2EA51E509
GO

Sequence cautioni

The sequence AAA36764 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti351Q → H in BAG61583 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06890431G → S.1 PublicationCorresponds to variant rs2275558dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_002271334 – 347SSSSF…SGDLF → GYPSPCYQPDRRIQ in isoform PBX1b. CuratedAdd BLAST14
Alternative sequenceiVSP_002272348 – 430Missing in isoform PBX1b. CuratedAdd BLAST83
Alternative sequenceiVSP_044499401 – 430ANGGW…SDTSN → HLPRHPRQAHYHFRLPTWHP in isoform 3. 1 PublicationAdd BLAST30

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M86546 mRNA. Translation: AAA60031.1.
AF313404
, AF313396, AF313397, AF313398, AF313399, AF313400, AF313401, AF313402, AF313403 Genomic DNA. Translation: AAG30941.1.
AK299673 mRNA. Translation: BAG61583.1.
AL359255, AL357568, AL390119 Genomic DNA. Translation: CAI14854.1.
AL390119, AL359255, AL357568 Genomic DNA. Translation: CAH73499.1.
AL357568, AL390119, AL359255 Genomic DNA. Translation: CAI14908.1.
AL391001 Genomic DNA. No translation available.
BC101578 mRNA. Translation: AAI01579.1.
M31522 mRNA. Translation: AAA36764.1. Different initiation.
CCDSiCCDS1246.1. [P40424-1]
CCDS55653.1. [P40424-3]
CCDS55654.1. [P40424-2]
PIRiB34734.
RefSeqiNP_001191892.1. NM_001204963.1. [P40424-3]
NP_002576.1. NM_002585.3. [P40424-1]
XP_005245286.1. XM_005245229.3. [P40424-1]
UniGeneiHs.557097.

Genome annotation databases

EnsembliENST00000367897; ENSP00000356872; ENSG00000185630. [P40424-2]
ENST00000420696; ENSP00000405890; ENSG00000185630. [P40424-1]
ENST00000627490; ENSP00000485692; ENSG00000185630. [P40424-3]
GeneIDi5087.
KEGGihsa:5087.
UCSCiuc001gct.4. human. [P40424-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

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
, AF313396, AF313397, AF313398, AF313399, AF313400, AF313401, AF313402, AF313403 Genomic DNA. Translation: AAG30941.1.
AK299673 mRNA. Translation: BAG61583.1.
AL359255, AL357568, AL390119 Genomic DNA. Translation: CAI14854.1.
AL390119, AL359255, AL357568 Genomic DNA. Translation: CAH73499.1.
AL357568, AL390119, AL359255 Genomic DNA. Translation: CAI14908.1.
AL391001 Genomic DNA. No translation available.
BC101578 mRNA. Translation: AAI01579.1.
M31522 mRNA. Translation: AAA36764.1. Different initiation.
CCDSiCCDS1246.1. [P40424-1]
CCDS55653.1. [P40424-3]
CCDS55654.1. [P40424-2]
PIRiB34734.
RefSeqiNP_001191892.1. NM_001204963.1. [P40424-3]
NP_002576.1. NM_002585.3. [P40424-1]
XP_005245286.1. XM_005245229.3. [P40424-1]
UniGeneiHs.557097.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1B72X-ray2.35B233-319[»]
1PUFX-ray1.90B233-305[»]
ProteinModelPortaliP40424.
SMRiP40424.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111120. 44 interactors.
IntActiP40424. 19 interactors.
MINTiMINT-1532549.
STRINGi9606.ENSP00000405890.

PTM databases

iPTMnetiP40424.
PhosphoSitePlusiP40424.

Polymorphism and mutation databases

BioMutaiPBX1.
DMDMi730279.

Proteomic databases

EPDiP40424.
MaxQBiP40424.
PaxDbiP40424.
PeptideAtlasiP40424.
PRIDEiP40424.

Protocols and materials databases

DNASUi5087.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000367897; ENSP00000356872; ENSG00000185630. [P40424-2]
ENST00000420696; ENSP00000405890; ENSG00000185630. [P40424-1]
ENST00000627490; ENSP00000485692; ENSG00000185630. [P40424-3]
GeneIDi5087.
KEGGihsa:5087.
UCSCiuc001gct.4. human. [P40424-1]

Organism-specific databases

CTDi5087.
DisGeNETi5087.
GeneCardsiPBX1.
HGNCiHGNC:8632. PBX1.
HPAiCAB018768.
HPA003505.
HPA003881.
MalaCardsiPBX1.
MIMi176310. gene.
neXtProtiNX_P40424.
OpenTargetsiENSG00000185630.
Orphaneti99860. Precursor B-cell acute lymphoblastic leukemia.
PharmGKBiPA32970.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0774. Eukaryota.
ENOG410XRVF. LUCA.
GeneTreeiENSGT00390000016426.
HOGENOMiHOG000266972.
HOVERGENiHBG000122.
InParanoidiP40424.
KOiK09355.
OMAiTASQMYS.
OrthoDBiEOG091G10TD.
PhylomeDBiP40424.
TreeFamiTF314340.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000167081-MONOMER.
ReactomeiR-HSA-452723. Transcriptional regulation of pluripotent stem cells.
R-HSA-5617472. Activation of anterior HOX genes in hindbrain development during early embryogenesis.
SignaLinkiP40424.
SIGNORiP40424.

Miscellaneous databases

ChiTaRSiPBX1. human.
EvolutionaryTraceiP40424.
GeneWikiiPBX1.
GenomeRNAii5087.
PROiP40424.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000185630.
CleanExiHS_PBX1.
HS_PRL.
ExpressionAtlasiP40424. baseline and differential.
GenevisibleiP40424. HS.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR005542. PBX.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
PF03792. PBC. 1 hit.
[Graphical view]
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPBX1_HUMAN
AccessioniPrimary (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 30, 2016
This is version 181 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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 proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.