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UniProtKB - P40424 (PBX1_HUMAN)

Entry version 212 (02 Dec 2020)
Sequence version 1 (01 Feb 1995)
Previous versions | rss
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi233 – 295Homeobox; TALE-typePROSITE-ProRule annotationAdd BLAST63

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActivator, Developmental protein, DNA-binding, Repressor
Biological processDifferentiation, Sexual differentiation, Steroidogenesis, Transcription, Transcription regulation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P40424

Reactome - a knowledgebase of biological pathways and processes

More...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

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P40424

SIGNOR Signaling Network Open Resource

More...SIGNORi		P40424

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Pre-B-cell leukemia transcription factor 1
Alternative name(s):
Homeobox protein PBX1
Homeobox protein PRL
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PBX1
Synonyms:PRL
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000185630.18

Human Gene Nomenclature Database

More...HGNCi		HGNC:8632, PBX1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		176310, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P40424

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay (CAKUTHED)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder characterized by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear. Most patients have hearing loss, and some may have global developmental delay.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_079369184 – 430Missing in CAKUTHED; unknown pathological significance. 1 PublicationAdd BLAST247
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.2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei88 – 89Breakpoint for translocation to form TCF3-PBX1 oncogene2

Keywords - Diseasei

Disease mutation, Proto-oncogene

Organism-specific databases

DisGeNET

More...DisGeNETi		5087

MalaCards human disease database

More...MalaCardsi		PBX1
MIMi617641, phenotype

Open Targets

More...OpenTargetsi		ENSG00000185630

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		99860, Precursor B-cell acute lymphoblastic leukemia
97362, Renal hypoplasia, bilateral

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA32970

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P40424, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PBX1

Domain mapping of disease mutations (DMDM)

More...DMDMi		730279

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000492351 – 430Pre-B-cell leukemia transcription factor 1Add BLAST430

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P40424

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P40424

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P40424

MaxQB - The MaxQuant DataBase

More...MaxQBi		P40424

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P40424

PeptideAtlas

More...PeptideAtlasi		P40424

PRoteomics IDEntifications database

More...PRIDEi		P40424

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		26680
55367 [P40424-1]
55368 [P40424-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P40424

MetOSite database of methionine sulfoxide sites

More...MetOSitei		P40424

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P40424

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in the kidney. Expressed in the endothelial cells of the glomeruli and interstitium (at protein level) (PubMed:28270404). Expressed in all tissues except in cells of the B and T lineage. Expressed strongly in kidney and brain (PubMed:28270404).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000185630, Expressed in endocervix and 248 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P40424, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P40424, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000185630, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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).

Interacts with MN1 (PubMed:31839203).

8 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		111120, 59 interactors

Protein interaction database and analysis system

More...IntActi		P40424, 28 interactors

Molecular INTeraction database

More...MINTi		P40424

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000405890

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P40424, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1430
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Biological Magnetic Resonance Data Bank

More...BMRBi		P40424

Small Angle Scattering Biological Data Bank

More...SASBDBi		P40424

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P40424

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		P40424

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi127 – 135Poly-Ala9

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the TALE/PBX homeobox family.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0774, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000154374

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_041153_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P40424

Identification of Orthologs from Complete Genome Data

More...OMAi		MAGNPYG

Database of Orthologous Groups

More...OrthoDBi		804740at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P40424

TreeFam database of animal gene trees

More...TreeFami		TF314340

Family and domain databases

Conserved Domains Database

More...CDDi		cd00086, homeodomain, 1 hit

Intrinsically Disordered proteins with Extensive Annotations and Literature

More...IDEALi		IID00149

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR009057, Homeobox-like_sf
IPR017970, Homeobox_CS
IPR001356, Homeobox_dom
IPR005542, PBX

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00046, Homeodomain, 1 hit
PF03792, PBC, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00389, HOX, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF46689, SSF46689, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00027, HOMEOBOX_1, 1 hit
PS50071, HOMEOBOX_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

Show »
Length:420
Mass (Da):46,265
Checksum:i1CC4B8B2EA51E509
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YLF5H0YLF5_HUMAN
Pre-B-cell leukemia transcription f...
PBX1
339Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087X0P4A0A087X0P4_HUMAN
Pre-B-cell leukemia transcription f...
PBX1
259Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YLB0H0YLB0_HUMAN
Pre-B-cell leukemia transcription f...
PBX1 hCG_23011
325Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0A0MTI0A0A0A0MTI0_HUMAN
Pre-B-cell leukemia transcription f...
PBX1
342Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WA05F8WA05_HUMAN
Pre-B-cell leukemia transcription f...
PBX1
170Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YLD4H0YLD4_HUMAN
Pre-B-cell leukemia transcription f...
PBX1
128Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YLM3H0YLM3_HUMAN
Pre-B-cell leukemia transcription f...
PBX1
97Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YKH1H0YKH1_HUMAN
Pre-B-cell leukemia transcription f...
PBX1
159Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YLT4H0YLT4_HUMAN
Pre-B-cell leukemia transcription f...
PBX1
138Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
S4R377S4R377_HUMAN
Pre-B-cell leukemia transcription f...
PBX1
70Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAA36764 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti351Q → H in BAG61583 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06890431G → S1 PublicationCorresponds to variant dbSNP:rs2275558Ensembl.1
Natural variantiVAR_079369184 – 430Missing in CAKUTHED; unknown pathological significance. 1 PublicationAdd BLAST247

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS1246.1 [P40424-1]
CCDS55653.1 [P40424-3]
CCDS55654.1 [P40424-2]

Protein sequence database of the Protein Information Resource

More...PIRi		B34734

NCBI Reference Sequences

More...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

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000367897; ENSP00000356872; ENSG00000185630 [P40424-2]
ENST00000420696; ENSP00000405890; ENSG00000185630 [P40424-1]
ENST00000627490; ENSP00000485692; ENSG00000185630 [P40424-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		5087

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:5087

UCSC genome browser

More...UCSCi		uc001gct.4, human [P40424-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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.
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]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1B72X-ray2.35B233-319[»]
1PUFX-ray1.90B233-305[»]
BMRBiP40424
SASBDBiP40424
SMRiP40424
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi111120, 59 interactors
IntActiP40424, 28 interactors
MINTiP40424
STRINGi9606.ENSP00000405890

PTM databases

iPTMnetiP40424
MetOSiteiP40424
PhosphoSitePlusiP40424

Polymorphism and mutation databases

BioMutaiPBX1
DMDMi730279

Proteomic databases

EPDiP40424
jPOSTiP40424
MassIVEiP40424
MaxQBiP40424
PaxDbiP40424
PeptideAtlasiP40424
PRIDEiP40424
ProteomicsDBi26680
55367 [P40424-1]
55368 [P40424-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		1079, 370 antibodies

The DNASU plasmid repository

More...DNASUi		5087

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

Comparative Toxicogenomics Database

More...CTDi		5087
DisGeNETi5087
EuPathDBiHostDB:ENSG00000185630.18

GeneCards: human genes, protein and diseases

More...GeneCardsi		PBX1
HGNCiHGNC:8632, PBX1
HPAiENSG00000185630, Low tissue specificity
MalaCardsiPBX1
MIMi176310, gene
617641, phenotype
neXtProtiNX_P40424
OpenTargetsiENSG00000185630
Orphaneti99860, Precursor B-cell acute lymphoblastic leukemia
97362, Renal hypoplasia, bilateral
PharmGKBiPA32970

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0774, Eukaryota
GeneTreeiENSGT00940000154374
HOGENOMiCLU_041153_1_0_1
InParanoidiP40424
OMAiMAGNPYG
OrthoDBi804740at2759
PhylomeDBiP40424
TreeFamiTF314340

Enzyme and pathway databases

PathwayCommonsiP40424
ReactomeiR-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
SignaLinkiP40424
SIGNORiP40424

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		5087, 8 hits in 866 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		PBX1, human
EvolutionaryTraceiP40424

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		PBX1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		5087
PharosiP40424, Tbio

Protein Ontology

More...PROi		PR:P40424
RNActiP40424, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000185630, Expressed in endocervix and 248 other tissues
ExpressionAtlasiP40424, baseline and differential
GenevisibleiP40424, HS

Family and domain databases

CDDicd00086, homeodomain, 1 hit
IDEALiIID00149
InterProiView protein in InterPro
IPR009057, Homeobox-like_sf
IPR017970, Homeobox_CS
IPR001356, Homeobox_dom
IPR005542, PBX
PfamiView protein in Pfam
PF00046, Homeodomain, 1 hit
PF03792, PBC, 1 hit
SMARTiView protein in SMART
SM00389, HOX, 1 hit
SUPFAMiSSF46689, SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027, HOMEOBOX_1, 1 hit
PS50071, HOMEOBOX_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPBX1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P40424
Secondary accession number(s): B4DSC1, F5H4U9, Q5T488
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: February 1, 1995
Last modified: December 2, 2020
This is version 212 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

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