Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Paired box protein Pax-5

Gene

PAX5

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

May play an important role in B-cell differentiation as well as neural development and spermatogenesis. Involved in the regulation of the CD19 gene, a B-lymphoid-specific target gene.

<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

GO - Biological processi

<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 functionDevelopmental protein, DNA-binding
Biological processDifferentiation, Neurogenesis, Spermatogenesis, Transcription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-8939245 RUNX1 regulates transcription of genes involved in BCR signaling

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

More...
SignaLinki
Q02548

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q02548

<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_and_taxonomy_section">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:
Paired box protein Pax-5
Alternative name(s):
B-cell-specific transcription factor
Short name:
BSAP
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:PAX5
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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 9

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000196092.12

Human Gene Nomenclature Database

More...
HGNCi
HGNC:8619 PAX5

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
167414 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q02548

<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; 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

A chromosomal aberration involving PAX5 is a cause of acute lymphoblastic leukemia. Translocation t(9;18)(p13;q11.2) with ZNF521. Translocation t(9;3)(p13;p14.1) with FOXP1. Translocation t(9;12)(p13;p13) with ETV6.1 Publication
Leukemia, acute lymphoblastic, 3 (ALL3)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA subtype of acute leukemia, a cancer of the white blood cells. Acute lymphoblastic anemia is a malignant disease of bone marrow and the most common malignancy diagnosed in children. The malignant cells are lymphoid precursor cells (lymphoblasts) that are arrested in an early stage of development. The lymphoblasts replace the normal marrow elements, resulting in a marked decrease in the production of normal blood cells. Consequently, anemia, thrombocytopenia, and neutropenia occur to varying degrees. The lymphoblasts also proliferate in organs other than the marrow, particularly the liver, spleen, and lymphnodes.
See also OMIM:613065
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_070682183G → S in ALL3; confers susceptibility to ALL3; reduced transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs398123063EnsemblClinVar.1

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>Sitei158 – 159Breakpoint for translocation to form PAX5-ETV62
Sitei260 – 261Breakpoint for translocation to form PAX5-FOXP12
Sitei303 – 304Breakpoint for translocation to form PAX5-ZNF5212

Keywords - Diseasei

Disease mutation, Proto-oncogene

Organism-specific databases

DisGeNET

More...
DisGeNETi
5079

MalaCards human disease database

More...
MalaCardsi
PAX5
MIMi613065 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000196092

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

More...
Orphaneti
99860 Precursor B-cell acute lymphoblastic leukemia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA32959

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PAX5

Domain mapping of disease mutations (DMDM)

More...
DMDMi
417449

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000501831 – 391Paired box protein Pax-5Add BLAST391

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

O-glycosylated.Curated

Keywords - PTMi

Glycoprotein

Proteomic databases

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

More...
PaxDbi
Q02548

PeptideAtlas

More...
PeptideAtlasi
Q02548

PRoteomics IDEntifications database

More...
PRIDEi
Q02548

ProteomicsDB human proteome resource

More...
ProteomicsDBi
58109

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q02548

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

More...
PhosphoSitePlusi
Q02548

<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 the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Expressed at early B-cell differentiation, in the developing CNS and in adult testis.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000196092 Expressed in 112 organ(s), highest expression level in buccal mucosa cell

CleanEx database of gene expression profiles

More...
CleanExi
HS_PAX5

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q02548 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q02548 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB026269
CAB026869
HPA056394
HPA068498

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with DAXX (By similarity). Binds DNA as a monomer. Binds TLE4. Interacts with ETS1, altering its DNA-binding properties.By similarity2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
KMT2AQ031642EBI-296331,EBI-2610266

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
111113, 11 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...
ELMi
Q02548

Protein interaction database and analysis system

More...
IntActi
Q02548, 43 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000350844

<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

1391
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Database of protein disorder

More...
DisProti
DP00969

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q02548

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

More...
SMRi
Q02548

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q02548

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini16 – 142PairedPROSITE-ProRule annotationAdd BLAST127

Keywords - Domaini

Paired box

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3862 Eukaryota
ENOG410ZT0S LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000159636

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000230938

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG009115

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q02548

KEGG Orthology (KO)

More...
KOi
K09383

Identification of Orthologs from Complete Genome Data

More...
OMAi
YSTYNDS

Database of Orthologous Groups

More...
OrthoDBi
EOG091G0S4E

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q02548

TreeFam database of animal gene trees

More...
TreeFami
TF315397

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00131 PAX, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.10.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR009057 Homeobox-like_sf
IPR001523 Paired_dom
IPR022130 Pax2_C
IPR036388 WH-like_DNA-bd_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00292 PAX, 1 hit
PF12403 Pax2_C, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00027 PAIREDBOX

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00351 PAX, 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
PS00034 PAIRED_1, 1 hit
PS51057 PAIRED_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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (11+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 11 <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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 11 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q02548-1) [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
MDLEKNYPTP RTSRTGHGGV NQLGGVFVNG RPLPDVVRQR IVELAHQGVR
60 70 80 90 100
PCDISRQLRV SHGCVSKILG RYYETGSIKP GVIGGSKPKV ATPKVVEKIA
110 120 130 140 150
EYKRQNPTMF AWEIRDRLLA ERVCDNDTVP SVSSINRIIR TKVQQPPNQP
160 170 180 190 200
VPASSHSIVS TGSVTQVSSV STDSAGSSYS ISGILGITSP SADTNKRKRD
210 220 230 240 250
EGIQESPVPN GHSLPGRDFL RKQMRGDLFT QQQLEVLDRV FERQHYSDIF
260 270 280 290 300
TTTEPIKPEQ TTEYSAMASL AGGLDDMKAN LASPTPADIG SSVPGPQSYP
310 320 330 340 350
IVTGRDLAST TLPGYPPHVP PAGQGSYSAP TLTGMVPGSE FSGSPYSHPQ
360 370 380 390
YSSYNDSWRF PNPGLLGSPY YYSAAARGAA PPAAATAYDR H
Length:391
Mass (Da):42,149
Last modified:October 1, 1993 - 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:iDB37E6EACD9F993A
GO
Isoform 2 (identifier: Q02548-2) [UniParc]FASTAAdd to basket
Also known as: delta9

The sequence of this isoform differs from the canonical sequence as follows:
     338-366: Missing.

Show »
Length:362
Mass (Da):38,890
Checksum:i6570B3D758CC4DFC
GO
Isoform 3 (identifier: Q02548-3) [UniParc]FASTAAdd to basket
Also known as: delta78

The sequence of this isoform differs from the canonical sequence as follows:
     261-282: TTEYSAMASLAGGLDDMKANLA → GVSFPGVPTATLSIPRTTTPGG
     286-315: PADIGSSVPGPQSYPIVTGRDLASTTLPGY → RGCLAPPIIIALPPEE
     319-391: VPPAGQGSYS...PAAATAYDRH → LQPPLPMTVTDPWSQAGTKH

Show »
Length:324
Mass (Da):35,281
Checksum:iF6A0BFF245B8B965
GO
Isoform 4 (identifier: Q02548-4) [UniParc]FASTAAdd to basket
Also known as: delta789

The sequence of this isoform differs from the canonical sequence as follows:
     261-315: TTEYSAMASLAGGLDDMKANLASPTPADIGSSVPGPQSYPIVTGRDLASTTLPGY → APPIIIALPPEE
     319-391: VPPAGQGSYS...PAAATAYDRH → LQPPLPMTVTDPWSQAGTKH

Show »
Length:295
Mass (Da):32,471
Checksum:iD5EEA5066EE14214
GO
Isoform 5 (identifier: Q02548-5) [UniParc]FASTAAdd to basket
Also known as: delta8

The sequence of this isoform differs from the canonical sequence as follows:
     261-391: TTEYSAMASL...PAAATAYDRH → AVTWRARPSPGTLHTSPPLDRAATQHRR

Show »
Length:288
Mass (Da):31,830
Checksum:i38E17187FCE243A4
GO
Isoform 6 (identifier: Q02548-6) [UniParc]FASTAAdd to basket
Also known as: delta7

The sequence of this isoform differs from the canonical sequence as follows:
     305-349: RDLASTTLPGYPPHVPPAGQGSYSAPTLTGMVPGSEFSGSPYSHP → SEFSGSPYSHP

Show »
Length:357
Mass (Da):38,773
Checksum:iD9002C0265083C8D
GO
Isoform 7 (identifier: Q02548-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     304-366: Missing.

Show »
Length:328
Mass (Da):35,514
Checksum:i92D63742F8C95496
GO
Isoform 8 (identifier: Q02548-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     159-201: Missing.

Show »
Length:348
Mass (Da):37,834
Checksum:i4A0BED6DADED06FC
GO
Isoform 9 (identifier: Q02548-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     159-201: Missing.
     338-366: Missing.

Show »
Length:319
Mass (Da):34,574
Checksum:i9478E6354E6E9B7B
GO
Isoform 10 (identifier: Q02548-10) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     71-136: Missing.
     304-337: Missing.

Show »
Length:291
Mass (Da):31,381
Checksum:i9DA0FDAAE882FD03
GO
Isoform 11 (identifier: Q02548-11) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     261-307: TTEYSAMASL...SYPIVTGRDL → WCPVLMRQYL...LDRAATQHRR
     308-391: Missing.

Show »
Length:307
Mass (Da):34,132
Checksum:i25F6F696F292DC04
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 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7EQT0E7EQT0_HUMAN
Paired box protein Pax-5
PAX5
324Annotation 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>
E7ERW5E7ERW5_HUMAN
Paired box protein Pax-5
PAX5
295Annotation 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>
E7ES87E7ES87_HUMAN
Paired box protein Pax-5
PAX5
220Annotation 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>
E7ERK2E7ERK2_HUMAN
Paired box protein Pax-5
PAX5
283Annotation 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>
C0KTE2C0KTE2_HUMAN
B cell specific activator protein v...
PAX5
218Annotation 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>
H0YB47H0YB47_HUMAN
Paired box protein Pax-5
PAX5
60Annotation 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>

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 conflicti99I → F in AAC35286 (PubMed:9742255).Curated1
Sequence conflicti141 – 143TKV → PKL in AAC35286 (PubMed:9742255).Curated3

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07067224G → R1 PublicationCorresponds to variant dbSNP:rs868494257Ensembl.1
Natural variantiVAR_07067326V → G1 PublicationCorresponds to variant dbSNP:rs926053251Ensembl.1
Natural variantiVAR_07067434P → Q1 Publication1
Natural variantiVAR_07067553D → V1 Publication1
Natural variantiVAR_07067659R → G1 Publication1
Natural variantiVAR_07067766S → N1 Publication1
Natural variantiVAR_07067875T → R1 Publication1
Natural variantiVAR_07067980P → R1 Publication1
Natural variantiVAR_070680139I → T1 Publication1
Natural variantiVAR_070681151V → I1 PublicationCorresponds to variant dbSNP:rs115889954EnsemblClinVar.1
Natural variantiVAR_070682183G → S in ALL3; confers susceptibility to ALL3; reduced transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs398123063EnsemblClinVar.1
Natural variantiVAR_070683183G → V1 Publication1
Natural variantiVAR_070684213S → L1 PublicationCorresponds to variant dbSNP:rs137870876EnsemblClinVar.1
Natural variantiVAR_070685301I → T1 PublicationCorresponds to variant dbSNP:rs372989600Ensembl.1
Natural variantiVAR_034370322A → T. Corresponds to variant dbSNP:rs34810717EnsemblClinVar.1
Natural variantiVAR_070686338G → V1 Publication1

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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_04782771 – 136Missing in isoform 10. 1 PublicationAdd BLAST66
Alternative sequenceiVSP_047828159 – 201Missing in isoform 8 and isoform 9. 1 PublicationAdd BLAST43
Alternative sequenceiVSP_044115261 – 391TTEYS…AYDRH → AVTWRARPSPGTLHTSPPLD RAATQHRR in isoform 5. 1 PublicationAdd BLAST131
Alternative sequenceiVSP_044116261 – 315TTEYS…TLPGY → APPIIIALPPEE in isoform 4. 1 PublicationAdd BLAST55
Alternative sequenceiVSP_047829261 – 307TTEYS…TGRDL → WCPVLMRQYLVQPQAVLFQA VTWRARPSPGTLHTSPPLDR AATQHRR in isoform 11. 1 PublicationAdd BLAST47
Alternative sequenceiVSP_044117261 – 282TTEYS…KANLA → GVSFPGVPTATLSIPRTTTP GG in isoform 3. 1 PublicationAdd BLAST22
Alternative sequenceiVSP_044118286 – 315PADIG…TLPGY → RGCLAPPIIIALPPEE in isoform 3. 1 PublicationAdd BLAST30
Alternative sequenceiVSP_047830304 – 366Missing in isoform 7. 1 PublicationAdd BLAST63
Alternative sequenceiVSP_047831304 – 337Missing in isoform 10. 1 PublicationAdd BLAST34
Alternative sequenceiVSP_044119305 – 349RDLAS…PYSHP → SEFSGSPYSHP in isoform 6. 1 PublicationAdd BLAST45
Alternative sequenceiVSP_047832308 – 391Missing in isoform 11. 1 PublicationAdd BLAST84
Alternative sequenceiVSP_044120319 – 391VPPAG…AYDRH → LQPPLPMTVTDPWSQAGTKH in isoform 3 and isoform 4. 1 PublicationAdd BLAST73
Alternative sequenceiVSP_044121338 – 366Missing in isoform 2 and isoform 9. 2 PublicationsAdd BLAST29

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
M96944 mRNA Translation: AAA58397.1
AY463952 mRNA Translation: AAR27590.1
AY463953 mRNA Translation: AAR27591.1
AY463954 mRNA Translation: AAR27592.1
AY463955 mRNA Translation: AAR27593.1
AY463956 mRNA Translation: AAR27594.1
AY463957 mRNA Translation: AAR27595.1
FJ626421 mRNA Translation: ACM91604.1
FJ626422 mRNA Translation: ACM91605.1
FJ626423 mRNA Translation: ACM91606.1
FJ626424 mRNA Translation: ACM91607.1
FJ626425 mRNA Translation: ACM91608.1
EF064717 Genomic DNA Translation: ABK41900.1
AL161781 Genomic DNA No translation available.
AL450267 Genomic DNA No translation available.
CH471071 Genomic DNA Translation: EAW58294.1
CH471071 Genomic DNA Translation: EAW58295.1
CH471071 Genomic DNA Translation: EAW58296.1
CH471071 Genomic DNA Translation: EAW58297.1
CH471071 Genomic DNA Translation: EAW58298.1
CH471071 Genomic DNA Translation: EAW58299.1
DQ841178 mRNA Translation: ABI30005.1 Different termination.
DQ845345 mRNA Translation: ABI33104.1 Different termination.
DQ845346 mRNA Translation: ABI33105.1 Different termination.
AF080573 mRNA Translation: AAC35286.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS65041.1 [Q02548-10]
CCDS65042.1 [Q02548-9]
CCDS65043.1 [Q02548-8]
CCDS65044.1 [Q02548-4]
CCDS65045.1 [Q02548-3]
CCDS65046.1 [Q02548-7]
CCDS65047.1 [Q02548-6]
CCDS65048.1 [Q02548-2]
CCDS6607.1 [Q02548-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
A44063

NCBI Reference Sequences

More...
RefSeqi
NP_001267476.1, NM_001280547.1 [Q02548-6]
NP_001267477.1, NM_001280548.1 [Q02548-2]
NP_001267478.1, NM_001280549.1
NP_001267479.1, NM_001280550.1
NP_001267481.1, NM_001280552.1 [Q02548-7]
NP_001267482.1, NM_001280553.1 [Q02548-9]
NP_001267483.1, NM_001280554.1 [Q02548-8]
NP_001267484.1, NM_001280555.1 [Q02548-10]
NP_001267485.1, NM_001280556.1
NP_057953.1, NM_016734.2 [Q02548-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.654464

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000358127; ENSP00000350844; ENSG00000196092 [Q02548-1]
ENST00000377840; ENSP00000367071; ENSG00000196092 [Q02548-5]
ENST00000377847; ENSP00000367078; ENSG00000196092 [Q02548-7]
ENST00000377852; ENSP00000367083; ENSG00000196092 [Q02548-6]
ENST00000377853; ENSP00000367084; ENSG00000196092 [Q02548-2]
ENST00000414447; ENSP00000412188; ENSG00000196092 [Q02548-8]
ENST00000446742; ENSP00000404687; ENSG00000196092 [Q02548-10]
ENST00000520281; ENSP00000430773; ENSG00000196092 [Q02548-9]
ENST00000523493; ENSP00000431038; ENSG00000196092 [Q02548-11]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
5079

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:5079

UCSC genome browser

More...
UCSCi
uc003zzo.3 human [Q02548-1]

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_references_section">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
M96944 mRNA Translation: AAA58397.1
AY463952 mRNA Translation: AAR27590.1
AY463953 mRNA Translation: AAR27591.1
AY463954 mRNA Translation: AAR27592.1
AY463955 mRNA Translation: AAR27593.1
AY463956 mRNA Translation: AAR27594.1
AY463957 mRNA Translation: AAR27595.1
FJ626421 mRNA Translation: ACM91604.1
FJ626422 mRNA Translation: ACM91605.1
FJ626423 mRNA Translation: ACM91606.1
FJ626424 mRNA Translation: ACM91607.1
FJ626425 mRNA Translation: ACM91608.1
EF064717 Genomic DNA Translation: ABK41900.1
AL161781 Genomic DNA No translation available.
AL450267 Genomic DNA No translation available.
CH471071 Genomic DNA Translation: EAW58294.1
CH471071 Genomic DNA Translation: EAW58295.1
CH471071 Genomic DNA Translation: EAW58296.1
CH471071 Genomic DNA Translation: EAW58297.1
CH471071 Genomic DNA Translation: EAW58298.1
CH471071 Genomic DNA Translation: EAW58299.1
DQ841178 mRNA Translation: ABI30005.1 Different termination.
DQ845345 mRNA Translation: ABI33104.1 Different termination.
DQ845346 mRNA Translation: ABI33105.1 Different termination.
AF080573 mRNA Translation: AAC35286.1
CCDSiCCDS65041.1 [Q02548-10]
CCDS65042.1 [Q02548-9]
CCDS65043.1 [Q02548-8]
CCDS65044.1 [Q02548-4]
CCDS65045.1 [Q02548-3]
CCDS65046.1 [Q02548-7]
CCDS65047.1 [Q02548-6]
CCDS65048.1 [Q02548-2]
CCDS6607.1 [Q02548-1]
PIRiA44063
RefSeqiNP_001267476.1, NM_001280547.1 [Q02548-6]
NP_001267477.1, NM_001280548.1 [Q02548-2]
NP_001267478.1, NM_001280549.1
NP_001267479.1, NM_001280550.1
NP_001267481.1, NM_001280552.1 [Q02548-7]
NP_001267482.1, NM_001280553.1 [Q02548-9]
NP_001267483.1, NM_001280554.1 [Q02548-8]
NP_001267484.1, NM_001280555.1 [Q02548-10]
NP_001267485.1, NM_001280556.1
NP_057953.1, NM_016734.2 [Q02548-1]
UniGeneiHs.654464

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
1K78X-ray2.25A/E/I1-149[»]
1MDMX-ray2.80A1-149[»]
DisProtiDP00969
ProteinModelPortaliQ02548
SMRiQ02548
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111113, 11 interactors
ELMiQ02548
IntActiQ02548, 43 interactors
STRINGi9606.ENSP00000350844

PTM databases

iPTMnetiQ02548
PhosphoSitePlusiQ02548

Polymorphism and mutation databases

BioMutaiPAX5
DMDMi417449

Proteomic databases

PaxDbiQ02548
PeptideAtlasiQ02548
PRIDEiQ02548
ProteomicsDBi58109

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
5079
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000358127; ENSP00000350844; ENSG00000196092 [Q02548-1]
ENST00000377840; ENSP00000367071; ENSG00000196092 [Q02548-5]
ENST00000377847; ENSP00000367078; ENSG00000196092 [Q02548-7]
ENST00000377852; ENSP00000367083; ENSG00000196092 [Q02548-6]
ENST00000377853; ENSP00000367084; ENSG00000196092 [Q02548-2]
ENST00000414447; ENSP00000412188; ENSG00000196092 [Q02548-8]
ENST00000446742; ENSP00000404687; ENSG00000196092 [Q02548-10]
ENST00000520281; ENSP00000430773; ENSG00000196092 [Q02548-9]
ENST00000523493; ENSP00000431038; ENSG00000196092 [Q02548-11]
GeneIDi5079
KEGGihsa:5079
UCSCiuc003zzo.3 human [Q02548-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
5079
DisGeNETi5079
EuPathDBiHostDB:ENSG00000196092.12

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PAX5
HGNCiHGNC:8619 PAX5
HPAiCAB026269
CAB026869
HPA056394
HPA068498
MalaCardsiPAX5
MIMi167414 gene
613065 phenotype
neXtProtiNX_Q02548
OpenTargetsiENSG00000196092
Orphaneti99860 Precursor B-cell acute lymphoblastic leukemia
PharmGKBiPA32959

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3862 Eukaryota
ENOG410ZT0S LUCA
GeneTreeiENSGT00940000159636
HOGENOMiHOG000230938
HOVERGENiHBG009115
InParanoidiQ02548
KOiK09383
OMAiYSTYNDS
OrthoDBiEOG091G0S4E
PhylomeDBiQ02548
TreeFamiTF315397

Enzyme and pathway databases

ReactomeiR-HSA-8939245 RUNX1 regulates transcription of genes involved in BCR signaling
SignaLinkiQ02548
SIGNORiQ02548

Miscellaneous databases

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

More...
ChiTaRSi
PAX5 human
EvolutionaryTraceiQ02548

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
PAX5

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

More...
GenomeRNAii
5079

Protein Ontology

More...
PROi
PR:Q02548

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000196092 Expressed in 112 organ(s), highest expression level in buccal mucosa cell
CleanExiHS_PAX5
ExpressionAtlasiQ02548 baseline and differential
GenevisibleiQ02548 HS

Family and domain databases

CDDicd00131 PAX, 1 hit
Gene3Di1.10.10.10, 2 hits
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR001523 Paired_dom
IPR022130 Pax2_C
IPR036388 WH-like_DNA-bd_sf
PfamiView protein in Pfam
PF00292 PAX, 1 hit
PF12403 Pax2_C, 1 hit
PRINTSiPR00027 PAIREDBOX
SMARTiView protein in SMART
SM00351 PAX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00034 PAIRED_1, 1 hit
PS51057 PAIRED_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
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 nameiPAX5_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: Q02548
Secondary accession number(s): A3QVP6
, A3QVP7, A3QVP8, C0KTF6, C0KTF7, C0KTF8, C0KTF9, C0KTG0, O75933, Q5SFM2, Q6S728, Q6S729, Q6S730, Q6S731, Q6S732
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1993
Last sequence update: October 1, 1993
Last modified: December 5, 2018
This is version 178 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, Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again