InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PAX7

Summary

InnateDB Protein

IDBP-92026.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PAX7

Protein Name

paired box 7

Synonyms

HUP1; PAX7B; RMS2;

Species

Homo sapiens

Ensembl Protein

ENSP00000364524

InnateDB Gene

IDBG-92024 (PAX7)

Protein Structure

UniProt Annotation

Function

Transcription factor playing a role in myogenesis through regulation of muscle precursor cells proliferation. {ECO:0000250}.

Subcellular Localization

Nucleus.

Disease Associations

Rhabdomyosarcoma 2 (RMS2) [MIM:268220]: A form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchymal cells and exhibiting differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one of the most frequently occurring soft tissue sarcomas and the most common in children. It occurs in four forms: alveolar, pleomorphic, embryonal and botryoidal rhabdomyosarcomas. Note=The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving PAX7 is found in rhabdomyosarcoma. Translocation t(1;13)(p36;q14) with FOXO1. The resulting protein is a transcriptional activator.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	8 [view]
Protein-Protein	8 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000983	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding
GO:0043565	sequence-specific DNA binding

Biological Process

GO:0006338	chromatin remodeling
GO:0006355	regulation of transcription, DNA-templated
GO:0006366	transcription from RNA polymerase II promoter
GO:0007519	skeletal muscle tissue development
GO:0009653	anatomical structure morphogenesis
GO:0010453	regulation of cell fate commitment
GO:0010468	regulation of gene expression
GO:0014813	satellite cell commitment
GO:0021527	spinal cord association neuron differentiation
GO:0021904	dorsal/ventral neural tube patterning
GO:0031062	positive regulation of histone methylation
GO:0043066	negative regulation of apoptotic process
GO:0043393	regulation of protein binding
GO:0043403	skeletal muscle tissue regeneration
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048663	neuron fate commitment
GO:0048706	embryonic skeletal system development
GO:0051216	cartilage development
GO:0060415	muscle tissue morphogenesis
GO:2000288	positive regulation of myoblast proliferation