UniProtKB - Q02548 (PAX5_HUMAN)
Paired box protein Pax-5
PAX5
Functioni
Transcription factor that plays an essential role in commitment of lymphoid progenitors to the B-lymphocyte lineage (PubMed:10811620, PubMed:27181361).
Fulfills a dual role by repressing B-lineage inappropriate genes and simultaneously activating B-lineage-specific genes (PubMed:10811620, PubMed:27181361).
In turn, regulates cell adhesion and migration, induces V(H)-to-D(H)J(H) recombination, facilitates pre-B-cell receptor signaling and promotes development to the mature B-cell stage (PubMed:32612238).
Repression of the cohesin-release factor WAPL causes global changes of the chromosomal architecture in pro-B cells to facilitate the generation of a diverse antibody repertoire (PubMed:32612238).
3 Publications(Microbial infection) Plays an essential role in the maintenance of Epstein-Barr virus genome copy number within the host cell by promoting EBNA1/oriP-dependent binding and transcription (PubMed:31941781).
Participates also in the inhibition of lytic EBV reactivation by modulating viral BZLF1 activity (PubMed:23678172).
2 PublicationsRegions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 16 – 142 | PairedPROSITE-ProRule annotationAdd BLAST | 127 |
GO - Molecular functioni
- DNA-binding transcription activator activity, RNA polymerase II-specific Source: Ensembl
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central
GO - Biological processi
- adult behavior Source: Ensembl
- aging Source: Ensembl
- anatomical structure development Source: GO_Central
- animal organ morphogenesis Source: ProtInc
- cerebral cortex development Source: Ensembl
- embryonic cranial skeleton morphogenesis Source: Ensembl
- humoral immune response Source: ProtInc
- lateral ventricle development Source: Ensembl
- multicellular organism development Source: ProtInc
- negative regulation of histone H3-K9 methylation Source: Ensembl
- negative regulation of transcription by RNA polymerase II Source: Ensembl
- regulation of transcription by RNA polymerase II Source: GO_Central
- skeletal muscle cell differentiation Source: Ensembl
- spermatogenesis Source: UniProtKB-KW
- transcription by RNA polymerase II Source: ProtInc
Keywordsi
Molecular function | Developmental protein, DNA-binding |
Biological process | Differentiation, Neurogenesis, Spermatogenesis, Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q02548 |
Reactomei | R-HSA-8939245, RUNX1 regulates transcription of genes involved in BCR signaling |
SignaLinki | Q02548 |
SIGNORi | Q02548 |
Names & Taxonomyi
Protein namesi | Recommended name: Paired box protein Pax-5Alternative name(s): B-cell-specific transcription factor Short name: BSAP |
Gene namesi | Name:PAX5 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:8619, PAX5 |
MIMi | 167414, gene |
neXtProti | NX_Q02548 |
VEuPathDBi | HostDB:ENSG00000196092 |
Subcellular locationi
Nucleus
- Nucleus 1 Publication
Cytosol
- cytosol Source: HPA
Nucleus
- fibrillar center Source: HPA
- nucleoplasm Source: HPA
Other locations
- chromatin Source: NTNU_SB
- intracellular membrane-bounded organelle Source: HPA
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Leukemia, acute lymphoblastic, 3 (ALL3)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_070682 | 183 | G → S in ALL3; confers susceptibility to ALL3; reduced transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs398123063EnsemblClinVar. | 1 |
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 158 – 159 | Breakpoint for translocation to form PAX5-ETV6 | 2 | |
Sitei | 260 – 261 | Breakpoint for translocation to form PAX5-FOXP1 | 2 | |
Sitei | 303 – 304 | Breakpoint for translocation to form PAX5-ZNF521 | 2 |
Keywords - Diseasei
Disease variant, Proto-oncogeneOrganism-specific databases
DisGeNETi | 5079 |
MalaCardsi | PAX5 |
MIMi | 613065, phenotype |
OpenTargetsi | ENSG00000196092 |
Orphaneti | 99860, Precursor B-cell acute lymphoblastic leukemia |
PharmGKBi | PA32959 |
Miscellaneous databases
Pharosi | Q02548, Tbio |
Genetic variation databases
BioMutai | PAX5 |
DMDMi | 417449 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000050183 | 1 – 391 | Paired box protein Pax-5Add BLAST | 391 |
Post-translational modificationi
Keywords - PTMi
GlycoproteinProteomic databases
MassIVEi | Q02548 |
MaxQBi | Q02548 |
PaxDbi | Q02548 |
PeptideAtlasi | Q02548 |
PRIDEi | Q02548 |
ProteomicsDBi | 58109 [Q02548-1] 67344 67345 67346 7578 7579 7580 7581 7582 |
PTM databases
iPTMneti | Q02548 |
PhosphoSitePlusi | Q02548 |
Expressioni
Developmental stagei
Gene expression databases
Bgeei | ENSG00000196092, Expressed in buccal mucosa cell and 135 other tissues |
ExpressionAtlasi | Q02548, baseline and differential |
Genevisiblei | Q02548, HS |
Organism-specific databases
HPAi | ENSG00000196092, Tissue enriched (lymphoid) |
Interactioni
Subunit structurei
Interacts with ETS1; this interaction alters PAX5 DNA-binding properties (PubMed:11779502). Binds DNA as a monomer (PubMed:11779502).
Interacts with TBP; this interaction allows PAX5 to interact with the basal transcription machinery (PubMed:10197586).
Interacts with RB1 (PubMed:10197586).
Interacts with TLE4 (PubMed:10811620).
Interacts with DAXX (By similarity).
By similarity3 Publications(Microbial infection) Interacts (via N-terminus) with Epstein-Barr virus protein BZLF1 (via C-terminus); this interaction inhibits BZLF1-mediated lytic viral reactivation (PubMed:23678172).
Interacts also with EBNA1; this interaction promotes EBNA1-dependent transcription (PubMed:31941781).
2 PublicationsBinary interactionsi
Q02548
Protein-protein interaction databases
BioGRIDi | 111113, 55 interactors |
ELMi | Q02548 |
IntActi | Q02548, 43 interactors |
STRINGi | 9606.ENSP00000350844 |
Miscellaneous databases
RNActi | Q02548, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q02548 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q02548 |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 21 | DisorderedSequence analysisAdd BLAST | 21 | |
Regioni | 19 – 75 | PAI subdomainPROSITE-ProRule annotationAdd BLAST | 57 | |
Regioni | 94 – 142 | RED subdomainPROSITE-ProRule annotationAdd BLAST | 49 | |
Regioni | 182 – 218 | DisorderedSequence analysisAdd BLAST | 37 |
Keywords - Domaini
Paired boxPhylogenomic databases
eggNOGi | KOG3862, Eukaryota |
GeneTreei | ENSGT00940000159636 |
HOGENOMi | CLU_019281_1_3_1 |
InParanoidi | Q02548 |
OMAi | IXIQESP |
OrthoDBi | 592933at2759 |
PhylomeDBi | Q02548 |
TreeFami | TF315397 |
Family and domain databases
CDDi | cd00131, PAX, 1 hit |
DisProti | DP00969 |
Gene3Di | 1.10.10.10, 2 hits |
IDEALi | IID00067 |
InterProi | View protein in InterPro IPR009057, Homeobox-like_sf IPR043182, PAIRED_DNA-bd_dom IPR001523, Paired_dom IPR022130, Pax2_C IPR043565, PAX_fam IPR036388, WH-like_DNA-bd_sf |
PANTHERi | PTHR45636, PTHR45636, 1 hit |
Pfami | View protein in Pfam PF00292, PAX, 1 hit PF12403, Pax2_C, 1 hit |
PRINTSi | PR00027, PAIREDBOX |
SMARTi | View protein in SMART SM00351, PAX, 1 hit |
SUPFAMi | SSF46689, SSF46689, 1 hit |
PROSITEi | View protein in PROSITE PS00034, PAIRED_1, 1 hit PS51057, PAIRED_2, 1 hit |
s (11+)i Sequence
Sequence statusi: Complete.
This entry describes 11 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 11 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
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
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
The sequence of this isoform differs from the canonical sequence as follows:
261-315: TTEYSAMASLAGGLDDMKANLASPTPADIGSSVPGPQSYPIVTGRDLASTTLPGY → APPIIIALPPEE
319-391: VPPAGQGSYS...PAAATAYDRH → LQPPLPMTVTDPWSQAGTKH
The sequence of this isoform differs from the canonical sequence as follows:
71-136: Missing.
304-337: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
261-307: TTEYSAMASL...SYPIVTGRDL → WCPVLMRQYL...LDRAATQHRR
308-391: Missing.
Computationally mapped potential isoform sequencesi
There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE7EQT0 | E7EQT0_HUMAN | Paired box protein Pax-5 | PAX5 | 324 | Annotation score: | ||
E7ERW5 | E7ERW5_HUMAN | Paired box protein Pax-5 | PAX5 | 295 | Annotation score: | ||
E7ES87 | E7ES87_HUMAN | Paired box protein Pax-5 | PAX5 | 220 | Annotation score: | ||
E7ERK2 | E7ERK2_HUMAN | Paired box protein Pax-5 | PAX5 | 283 | Annotation score: | ||
H0YB47 | H0YB47_HUMAN | Paired box protein Pax-5 | PAX5 | 60 | Annotation score: | ||
C0KTE2 | C0KTE2_HUMAN | B cell specific activator protein v... | PAX5 | 218 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 99 | I → F in AAC35286 (PubMed:9742255).Curated | 1 | |
Sequence conflicti | 141 – 143 | TKV → PKL in AAC35286 (PubMed:9742255).Curated | 3 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_070672 | 24 | G → R1 PublicationCorresponds to variant dbSNP:rs868494257Ensembl. | 1 | |
Natural variantiVAR_070673 | 26 | V → G1 PublicationCorresponds to variant dbSNP:rs926053251Ensembl. | 1 | |
Natural variantiVAR_070674 | 34 | P → Q1 Publication | 1 | |
Natural variantiVAR_070675 | 53 | D → V1 Publication | 1 | |
Natural variantiVAR_070676 | 59 | R → G1 Publication | 1 | |
Natural variantiVAR_070677 | 66 | S → N1 Publication | 1 | |
Natural variantiVAR_070678 | 75 | T → R1 Publication | 1 | |
Natural variantiVAR_070679 | 80 | P → R1 Publication | 1 | |
Natural variantiVAR_070680 | 139 | I → T1 Publication | 1 | |
Natural variantiVAR_070681 | 151 | V → I1 PublicationCorresponds to variant dbSNP:rs115889954EnsemblClinVar. | 1 | |
Natural variantiVAR_070682 | 183 | G → S in ALL3; confers susceptibility to ALL3; reduced transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs398123063EnsemblClinVar. | 1 | |
Natural variantiVAR_070683 | 183 | G → V1 Publication | 1 | |
Natural variantiVAR_070684 | 213 | S → L1 PublicationCorresponds to variant dbSNP:rs137870876EnsemblClinVar. | 1 | |
Natural variantiVAR_070685 | 301 | I → T1 PublicationCorresponds to variant dbSNP:rs372989600Ensembl. | 1 | |
Natural variantiVAR_034370 | 322 | A → T. Corresponds to variant dbSNP:rs34810717EnsemblClinVar. | 1 | |
Natural variantiVAR_070686 | 338 | G → V1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_047827 | 71 – 136 | Missing in isoform 10. 1 PublicationAdd BLAST | 66 | |
Alternative sequenceiVSP_047828 | 159 – 201 | Missing in isoform 8 and isoform 9. 1 PublicationAdd BLAST | 43 | |
Alternative sequenceiVSP_044115 | 261 – 391 | TTEYS…AYDRH → AVTWRARPSPGTLHTSPPLD RAATQHRR in isoform 5. 1 PublicationAdd BLAST | 131 | |
Alternative sequenceiVSP_044116 | 261 – 315 | TTEYS…TLPGY → APPIIIALPPEE in isoform 4. 1 PublicationAdd BLAST | 55 | |
Alternative sequenceiVSP_047829 | 261 – 307 | TTEYS…TGRDL → WCPVLMRQYLVQPQAVLFQA VTWRARPSPGTLHTSPPLDR AATQHRR in isoform 11. 1 PublicationAdd BLAST | 47 | |
Alternative sequenceiVSP_044117 | 261 – 282 | TTEYS…KANLA → GVSFPGVPTATLSIPRTTTP GG in isoform 3. 1 PublicationAdd BLAST | 22 | |
Alternative sequenceiVSP_044118 | 286 – 315 | PADIG…TLPGY → RGCLAPPIIIALPPEE in isoform 3. 1 PublicationAdd BLAST | 30 | |
Alternative sequenceiVSP_047830 | 304 – 366 | Missing in isoform 7. 1 PublicationAdd BLAST | 63 | |
Alternative sequenceiVSP_047831 | 304 – 337 | Missing in isoform 10. 1 PublicationAdd BLAST | 34 | |
Alternative sequenceiVSP_044119 | 305 – 349 | RDLAS…PYSHP → SEFSGSPYSHP in isoform 6. 1 PublicationAdd BLAST | 45 | |
Alternative sequenceiVSP_047832 | 308 – 391 | Missing in isoform 11. 1 PublicationAdd BLAST | 84 | |
Alternative sequenceiVSP_044120 | 319 – 391 | VPPAG…AYDRH → LQPPLPMTVTDPWSQAGTKH in isoform 3 and isoform 4. 1 PublicationAdd BLAST | 73 | |
Alternative sequenceiVSP_044121 | 338 – 366 | Missing in isoform 2 and isoform 9. 2 PublicationsAdd BLAST | 29 |
Sequence databases
Genome annotation databases
Keywords - Coding sequence diversityi
Alternative splicing, Chromosomal rearrangementSimilar proteinsi
Cross-referencesi
Web resourcesi
Atlas of Genetics and Cytogenetics in Oncology and Haematology |
Sequence databases
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1K78 | X-ray | 2.25 | A/E/I | 1-149 | [»] | |
1MDM | X-ray | 2.80 | A | 1-149 | [»] | |
SMRi | Q02548 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 111113, 55 interactors |
ELMi | Q02548 |
IntActi | Q02548, 43 interactors |
STRINGi | 9606.ENSP00000350844 |
PTM databases
iPTMneti | Q02548 |
PhosphoSitePlusi | Q02548 |
Genetic variation databases
BioMutai | PAX5 |
DMDMi | 417449 |
Proteomic databases
MassIVEi | Q02548 |
MaxQBi | Q02548 |
PaxDbi | Q02548 |
PeptideAtlasi | Q02548 |
PRIDEi | Q02548 |
ProteomicsDBi | 58109 [Q02548-1] 67344 67345 67346 7578 7579 7580 7581 7582 |
Protocols and materials databases
Antibodypediai | 3668, 934 antibodies from 49 providers |
DNASUi | 5079 |
Genome annotation databases
Organism-specific databases
CTDi | 5079 |
DisGeNETi | 5079 |
GeneCardsi | PAX5 |
HGNCi | HGNC:8619, PAX5 |
HPAi | ENSG00000196092, Tissue enriched (lymphoid) |
MalaCardsi | PAX5 |
MIMi | 167414, gene 613065, phenotype |
neXtProti | NX_Q02548 |
OpenTargetsi | ENSG00000196092 |
Orphaneti | 99860, Precursor B-cell acute lymphoblastic leukemia |
PharmGKBi | PA32959 |
VEuPathDBi | HostDB:ENSG00000196092 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3862, Eukaryota |
GeneTreei | ENSGT00940000159636 |
HOGENOMi | CLU_019281_1_3_1 |
InParanoidi | Q02548 |
OMAi | IXIQESP |
OrthoDBi | 592933at2759 |
PhylomeDBi | Q02548 |
TreeFami | TF315397 |
Enzyme and pathway databases
PathwayCommonsi | Q02548 |
Reactomei | R-HSA-8939245, RUNX1 regulates transcription of genes involved in BCR signaling |
SignaLinki | Q02548 |
SIGNORi | Q02548 |
Miscellaneous databases
BioGRID-ORCSi | 5079, 18 hits in 1063 CRISPR screens |
ChiTaRSi | PAX5, human |
EvolutionaryTracei | Q02548 |
GeneWikii | PAX5 |
GenomeRNAii | 5079 |
Pharosi | Q02548, Tbio |
PROi | PR:Q02548 |
RNActi | Q02548, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000196092, Expressed in buccal mucosa cell and 135 other tissues |
ExpressionAtlasi | Q02548, baseline and differential |
Genevisiblei | Q02548, HS |
Family and domain databases
CDDi | cd00131, PAX, 1 hit |
DisProti | DP00969 |
Gene3Di | 1.10.10.10, 2 hits |
IDEALi | IID00067 |
InterProi | View protein in InterPro IPR009057, Homeobox-like_sf IPR043182, PAIRED_DNA-bd_dom IPR001523, Paired_dom IPR022130, Pax2_C IPR043565, PAX_fam IPR036388, WH-like_DNA-bd_sf |
PANTHERi | PTHR45636, PTHR45636, 1 hit |
Pfami | View protein in Pfam PF00292, PAX, 1 hit PF12403, Pax2_C, 1 hit |
PRINTSi | PR00027, PAIREDBOX |
SMARTi | View protein in SMART SM00351, PAX, 1 hit |
SUPFAMi | SSF46689, SSF46689, 1 hit |
PROSITEi | View protein in PROSITE PS00034, PAIRED_1, 1 hit PS51057, PAIRED_2, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | PAX5_HUMAN | |
Accessioni | Q02548Primary (citable) accession number: Q02548 Secondary accession number(s): A3QVP6 Q6S732 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1993 |
Last sequence update: | October 1, 1993 | |
Last modified: | February 23, 2022 | |
This is version 197 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references