Seroatlas · Human Serome Atlas

PAX7

Paired box protein Pax-7

Also known as: Hup1, PAX7_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P23759
Gene
PAX7
Ensembl
ENSG00000009709
Chromosome
1
Canonical length
505 aa
Protein class
Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

OverviewNCBI Gene

This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The specific function of the paired box 7 gene is unknown but speculated to involve tumor suppression since fusion of this gene with a forkhead domain family member has been associated with alveolar rhabdomyosarcoma. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]

Canonical amino-acid sequenceUniProt

505 residues, UniProt reviewed canonical sequence.

>P23759|PAX7
     1  MAALPGTVPR MMRPAPGQNY PRTGFPLEVS TPLGQGRVNQ LGGVFINGRP LPNHIRHKIV
    61  EMAHHGIRPC VISRQLRVSH GCVSKILCRY QETGSIRPGA IGGSKPRQVA TPDVEKKIEE
   121  YKRENPGMFS WEIRDRLLKD GHCDRSTVPS GLVSSISRVL RIKFGKKEEE DEADKKEDDG
   181  EKKAKHSIDG ILGDKGNRLD EGSDVESEPD LPLKRKQRRS RTTFTAEQLE ELEKAFERTH
   241  YPDIYTREEL AQRTKLTEAR VQVWFSNRRA RWRKQAGANQ LAAFNHLLPG GFPPTGMPTL
   301  PPYQLPDSTY PTTTISQDGG STVHRPQPLP PSTMHQGGLA AAAAAADTSS AYGARHSFSS
   361  YSDSFMNPAA PSNHMNPVSN GLSPQVMSIL GNPSAVPPQP QADFSISPLH GGLDSATSIS
   421  ASCSQRADSI KPGDSLPTSQ AYCPPTYSTT GYSVDPVAGY QYGQYGQTAV DYLAKNVSLS
   481  TQRRMKLGEH SAVLGLLPVE TGQAY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PAX7 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)
0.58
Highest tissue expression
5.3 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 5.3 nTPM
  • tongue: 4.1 nTPM
  • cerebral cortex: 1 nTPM
  • spinal cord: 0.4 nTPM
  • amygdala: 0.2 nTPM
  • esophagus: 0.2 nTPM

Single-cell type

  • myosatellite cells: 928 nCPM
  • pituitary stem cells: 24 nCPM
  • tuft cells: 12 nCPM
  • fibro-adipogenic progenitors: 5 nCPM
  • respiratory basal cells: 4 nCPM
  • brain inhibitory neurons: 3.8 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • midbrain: 10 nTPM
  • medulla oblongata: 7.1 nTPM
  • spinal cord: 5.8 nTPM
  • pons: 5.6 nTPM
  • cerebral cortex: 3.3 nTPM
  • cerebellum: 3 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PAX7.

Disease | AllUniProt

Conditions PAX7 is implicated in, by any mechanism.

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 119 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Myopathy, congenital, progressive, with scoliosis
  • Alveolar rhabdomyosarcoma

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)
0.56
gnomAD pLI
0.14
gnomAD missense Z
0.8
DepMap mean gene effect
0.05
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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PAX7 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PAX7 as an antibody target. Whether an autoantibody or antibody against PAX7 could matter depends on whether native PAX7 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PAX7 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label PAX7 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PAX7. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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