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Details on Person UniProt:P23759-3 PAX7

Class:IdReferenceIsoform:8977966
_chainChangeLogchain:1-505 added on Fri February 17 2017
_displayNameUniProt:P23759-3 PAX7
_timestamp2024-11-03 19:47:47
chainchain:1-505
checksumE51CF8B3E8D4C3D9
commentFUNCTION Transcription factor that is involved in the regulation of muscle stem cells proliferation, playing a role in myogenesis and muscle regeneration.SUBUNIT Can bind to DNA as a heterodimer with PAX3. Interacts with PAXBP1; the interaction links PAX7 to a WDR5-containing histone methyltransferase complex (By similarity). Interacts with DAXX (PubMed:10393185).INTERACTION Acetylation at Lys-105 and Lys-139 by KAT8 is required for high-level transcription factor activity. Deacetylated by SIRT2.DISEASE 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.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the paired homeobox family.
created[InstanceEdit:8964659] Weiser, JD
descriptionrecommendedName: Paired box protein Pax-7 alternativeName: HuP1
geneNamePAX7
HUP1
identifierP23759
isoformParent
isSequenceChangedFALSE
keywordAcetylation
Alternative splicing
Chromosomal rearrangement
Developmental protein
Disease variant
DNA-binding
Homeobox
Myogenesis
Nucleus
Paired box
Proteomics identification
Proto-oncogene
Reference proteome
Transcription
Transcription regulation
modified[InstanceEdit:9836292] Weiser, Joel, 2023-05-25
[InstanceEdit:9852000] Weiser, Joel, 2023-11-03
[InstanceEdit:9917590] Weiser, Joel, 2024-08-09
[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
namePAX7
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:8996780] ENSEMBL:ENSG00000009709 PAX7 [Homo sapiens]
secondaryIdentifierPAX7_HUMAN
E9PFV9
Q0VA99
Q2PJS5
sequenceLength505
species[Species:48887] Homo sapiens
variantIdentifierP23759-3
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No pathways have been reviewed or authored by UniProt:P23759-3 PAX7 (8977966)