Version 5.4
Homo sapiens Protein: PAX7
Summary
InnateDB Protein IDBP-227691.7
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 ENSP00000383502
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:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
Biological Process
GO:0006355 regulation of transcription, DNA-templated
GO:0009653 anatomical structure morphogenesis
GO:0043066 negative regulation of apoptotic process
Cellular Component
GO:0005634 nucleus
Protein Structure and Domains
PDB ID
InterPro IPR001356 Homeobox domain
IPR001523 Paired domain
IPR009057 Homeodomain-like
IPR022106 Paired box protein 7
PFAM PF00046
PF00292
PF12360
PRINTS PR00027
PIRSF
SMART SM00389
SM00351
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P23759
PhosphoSite PhosphoSite-P23759
TrEMBL
UniProt Splice Variant
Entrez Gene 5081
UniGene Hs.113253
RefSeq NP_039236
HUGO HGNC:8621
OMIM 167410
CCDS CCDS44075
HPRD 01331
IMGT
EMBL AL021528 BC121165 BC121166 CH471134 DQ322591 X15042 X15250 X15251 X96743 X96744 X96745 X96746 X96747 X96748 Z35141
GenPept AAI21166 AAI21167 ABC48797 CAA16432 CAA65520 CAA65521 CAA65522 CAA84513 EAW94853

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca