|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
HUP1
PAX7A
paired box gene 7
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:alveolar_rhabdomyosarcoma
gptkb:rhabdomyosarcoma
|
|
gptkbp:biologicalProcess
|
transcription regulation
DNA binding
|
|
gptkbp:discoveredBy
|
Peter Gruss et al.
|
|
gptkbp:encodes
|
PAX7 protein
|
|
gptkbp:Entrez_Gene_ID
|
5081
ENSG00000164007
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
embryonic development
muscle regeneration
satellite cells
|
|
gptkbp:firstDescribed
|
1993
|
|
gptkbp:formsFusionGeneWith
|
gptkb:FOXO1
|
|
gptkbp:fullName
|
paired box 7
|
|
gptkbp:function
|
transcription factor
|
|
gptkbp:hasHomeoboxDomain
|
yes
|
|
gptkbp:hasPairedBoxDomain
|
yes
|
|
gptkbp:HGNC_ID
|
8617
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
PAX7
|
|
gptkbp:involvedIn
|
myogenesis
muscle stem cell maintenance
|
|
gptkbp:length
|
520 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:1p36.13
|
|
gptkbp:mutationAssociatedWith
|
muscular dystrophy
craniofacial abnormalities
|
|
gptkbp:OMIM
|
167410
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Pax7
|
|
gptkbp:product
|
nuclear protein
|
|
gptkbp:proteinFamily
|
PAX gene family
|
|
gptkbp:regulates
|
Myf5 expression
Myod1 expression
muscle progenitor cell differentiation
muscle progenitor cell proliferation
|
|
gptkbp:relatedTo
|
gptkb:PAX3
|
|
gptkbp:significance
|
biomarker for muscle stem cells
diagnostic marker for rhabdomyosarcoma
|
|
gptkbp:subcellularLocation
|
gptkb:nucleus
|
|
gptkbp:symbol
|
gptkb:PAX7
|
|
gptkbp:transcriptionStartSite
|
chr1:18,624,000 (GRCh38)
|
|
gptkbp:UniProtID
|
P23759
|
|
gptkbp:bfsParent
|
gptkb:PAX7-FOXO1_fusion
|
|
gptkbp:bfsLayer
|
6
|