PAX5

Protein identityUniProt · HPA

UniProt accession

Q02548

Gene

PAX5

Ensembl

ENSG00000196092

Chromosome

9

Canonical length

391 aa

Protein class

Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm

OverviewNCBI Gene

This gene encodes a member of the paired box (PAX) family of transcription factors. The central feature of this gene family is a novel, highly conserved DNA-binding motif, known as the paired box. Paired box transcription factors are important regulators in early development, and alterations in the expression of their genes are thought to contribute to neoplastic transformation. This gene encodes the B-cell lineage specific activator protein that is expressed at early, but not late stages of B-cell differentiation. Its expression has also been detected in developing CNS and testis and so the encoded protein may also play a role in neural development and spermatogenesis. This gene is located at 9p13, which is involved in t(9;14)(p13;q32) translocations recurring in small lymphocytic lymphomas of the plasmacytoid subtype, and in derived large-cell lymphomas. This translocation brings the potent E-mu enhancer of the IgH gene into close proximity of the PAX5 promoter, suggesting that the deregulation of transcription of this gene contributes to the pathogenesis of these lymphomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

Canonical amino-acid sequenceUniProt

391 residues, UniProt reviewed canonical sequence.

>Q02548|PAX5
     1  MDLEKNYPTP RTSRTGHGGV NQLGGVFVNG RPLPDVVRQR IVELAHQGVR PCDISRQLRV
    61  SHGCVSKILG RYYETGSIKP GVIGGSKPKV ATPKVVEKIA EYKRQNPTMF AWEIRDRLLA
   121  ERVCDNDTVP SVSSINRIIR TKVQQPPNQP VPASSHSIVS TGSVTQVSSV STDSAGSSYS
   181  ISGILGITSP SADTNKRKRD EGIQESPVPN GHSLPGRDFL RKQMRGDLFT QQQLEVLDRV
   241  FERQHYSDIF TTTEPIKPEQ TTEYSAMASL AGGLDDMKAN LASPTPADIG SSVPGPQSYP
   301  IVTGRDLAST TLPGYPPHVP PAGQGSYSAP TLTGMVPGSE FSGSPYSHPQ YSSYNDSWRF
   361  PNPGLLGSPY YYSAAARGAA PPAAATAYDR H

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PAX5 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.61

Highest tissue expression

37 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PAX5.

Disease | AllUniProt

Conditions PAX5 is implicated in, by any mechanism.

• Leukemia, acute lymphoblastic, 3 (ALL3) MIM:613065

Disease | GeneticClinVar

18 pathogenic / likely-pathogenic of 605 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Acute lymphoid leukemia
• Neurodevelopmental disorder
• Leukemia, acute lymphoblastic, susceptibility to, 3
• Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.17

gnomAD pLI

1

gnomAD missense Z

2.45

DepMap mean gene effect

-0.11

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• adult behavior
• B cell differentiation
• cerebral cortex development
• embryonic cranial skeleton morphogenesis
• lateral ventricle development
• negative regulation of transcription by RNA polymerase II
• nervous system development
• regulation of transcription by RNA polymerase II
• sensory organ development
• skeletal muscle cell differentiation
• spermatogenesis
• transcription by RNA polymerase II

Molecular functions

• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity, RNA polymerase II-specific
• RNA polymerase II cis-regulatory region sequence-specific DNA binding

Cellular components

• chromatin
• nucleoplasm

Protein domainsUniProt · Pfam · InterPro

• Paired domain
• Homedomain-like superfamily
• Paired-box protein 2 C-terminal
• Winged helix-like DNA-binding domain superfamily
• Paired DNA-binding site
• PAX family
• 'Paired box' domain
• Paired-box protein 2 C terminal

KeywordsUniProt

• Chromosomal rearrangement
• Developmental protein
• Differentiation
• DNA-binding
• Glycoprotein
• Neurogenesis
• Nucleus
• Paired box
• Proto-oncogene
• Spermatogenesis
• Transcription
• Transcription regulation

InteractionsUniProt · HPA

Protein binding partners of PAX5 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• DAXX
• ETS1
• RB1
• TBP
• TLE4
• TADA2B