PAX3

Protein identityUniProt · HPA

UniProt accession

P23760

Gene

PAX3

Ensembl

ENSG00000135903

Chromosome

2

Canonical length

479 aa

Protein class

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

Subcellular location

Nucleoplasm

Quaternary structure

Homodimer

OverviewNCBI Gene

This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. Mutations in paired box gene 3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma. The translocation t(2;13)(q35;q14), which represents a fusion between PAX3 and the forkhead gene, is a frequent finding in alveolar rhabdomyosarcoma. Alternative splicing results in transcripts encoding isoforms with different C-termini. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

479 residues, UniProt reviewed canonical sequence.

>P23760|PAX3
     1  MTTLAGAVPR MMRPGPGQNY PRSGFPLEVS TPLGQGRVNQ LGGVFINGRP LPNHIRHKIV
    61  EMAHHGIRPC VISRQLRVSH GCVSKILCRY QETGSIRPGA IGGSKPKQVT TPDVEKKIEE
   121  YKRENPGMFS WEIRDKLLKD AVCDRNTVPS VSSISRILRS KFGKGEEEEA DLERKEAEES
   181  EKKAKHSIDG ILSERASAPQ SDEGSDIDSE PDLPLKRKQR RSRTTFTAEQ LEELERAFER
   241  THYPDIYTRE ELAQRAKLTE ARVQVWFSNR RARWRKQAGA NQLMAFNHLI PGGFPPTAMP
   301  TLPTYQLSET SYQPTSIPQA VSDPSSTVHR PQPLPPSTVH QSTIPSNPDS SSAYCLPSTR
   361  HGFSSYTDSF VPPSGPSNPM NPTIGNGLSP QVMGLLTNHG GVPHQPQTDY ALSPLTGGLE
   421  PTTTVSASCS QRLDHMKSLD SLPTSQSYCP PTYSTTGYSM DPVTGYQYGQ YGQSKPWTF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PAX3 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)

0.57

Highest tissue expression

4.2 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PAX3.

Disease | AllUniProt

Conditions PAX3 is implicated in, by any mechanism.

• Waardenburg syndrome 1 (WS1) MIM:193500
• Waardenburg syndrome 3 (WS3) MIM:148820
• Craniofacial-deafness-hand syndrome (CDHS) MIM:122880
• Rhabdomyosarcoma 2 (RMS2) MIM:268220

Disease | GeneticClinVar

194 pathogenic / likely-pathogenic of 497 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Waardenburg syndrome type 1
• Waardenburg syndrome type 3
• Waardenburg syndrome
• PAX3-related disorder
• Rare genetic deafness

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)

0.48

gnomAD pLI

0.24

gnomAD missense Z

1.62

DepMap mean gene effect

-0.04

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• animal organ morphogenesis
• apoptotic process
• muscle organ development
• nervous system development
• positive regulation of DNA-templated transcription
• positive regulation of transcription by RNA polymerase II
• regulation of transcription by RNA polymerase II
• sensory perception of sound

Molecular functions

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

Cellular components

• chromatin
• nucleoplasm

Protein domainsUniProt · Pfam · InterPro

• Homeodomain
• Paired domain
• Homedomain-like superfamily
• Homeobox, conserved site
• Paired box protein 7, C-terminal
• Winged helix-like DNA-binding domain superfamily
• Paired DNA-binding site
• PAX family
• Homeodomain
• 'Paired box' domain
• Paired box protein 7

KeywordsUniProt

• Chromosomal rearrangement
• Deafness
• Developmental protein
• DNA-binding
• Homeobox
• Myogenesis
• Neurogenesis
• Nucleus
• Paired box
• Phosphoprotein
• Proto-oncogene
• Transcription
• Transcription regulation
• Waardenburg syndrome

InteractionsUniProt · HPA

Protein binding partners of PAX3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• DAXX
• PAXBP1
• SOX10
• TBX18
• HIRA
• MEOX2