PAX7
entrez
5081
canonical
uniprot
P23759
canonical
ensembl
ENSG00000009709
resolver
ensp
ENSP00000364524
resolver
ensp
ENSP00000383502
resolver
ensp
ENSP00000403389
resolver
genesymbol
PAX7
resolver
genesymbol_syn
HUP1
resolver
hgnc
HGNC:8621
resolver
uniprot
E9PFV9
resolver
uniprot
Q0VA99
resolver
uniprot
Q2PJS5
resolver
uniprot_entry
PAX7_HUMAN
resolver
uniprot_sec
E9PFV9
resolver
uniprot_sec
Q0VA99
resolver
uniprot_sec
Q2PJS5
resolver
amino_acid_sequence
MAALPGTVPRMMRPAPGQNYPRTGFPLEVSTPLGQGRVNQLGGVFINGRPLPNHIRHKIVEMAHHGIRPCVISRQLRVSHGCVSKILCRYQETGSIRPGAIGGSKPRQVATPDVEKKIEEYKRENPGMFSWEIRDRLLKDGHCDRSTVPSGLVSSISRVLRIKFGKKEEEDEADKKEDDGEKKAKHSIDGILGDKGNRLDEGSDVESEPDLPLKRKQRRSRTTFTAEQLEELEKAFERTHYPDIYTREELAQRTKLTEARVQVWFSNRRARWRKQAGANQLAAFNHLLPGGFPPTGMPTLPPYQLPDSTYPTTTISQDGGSTVHRPQPLPPSTMHQGGLAAAAAAADTSSAYGARHSFSSYSDSFMNPAAPSNHMNPVSNGLSPQVMSILGNPSAVPPQPQADFSISPLHGGLDSATSISASCSQRADSIKPGDSLPTSQAYCPPTYSTTGYSVDPVAGYQYGQYGQTAVDYLAKNVSLSTQRRMKLGEHSAVLGLLPVETGQAY
uniprot
proteins
disease_involvement
DISEASE: 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. {ECO:0000269|PubMed:8187070}. 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. {ECO:0000269|PubMed:8187070}.; DISEASE: Congenital myopathy 19 (CMYO19) [MIM:618578]: An autosomal recessive muscular disorder characterized by infantile onset of progressive muscular atrophy, hypotonia, ptosis, scoliosis and dysmorphic facial features. Disease severity is variable, ranging from mild to severe. {ECO:0000269|PubMed:31092906}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription factor that is involved in the regulation of muscle stem cells proliferation, playing a role in myogenesis and muscle regeneration. {ECO:0000269|PubMed:31092906}.
uniprot
proteins
mass_dalton
55119
uniprot
proteins
post_translational_modification
PTM: Acetylation at Lys-105 and Lys-139 by KAT8 is required for high-level transcription factor activity. Deacetylated by SIRT2. {ECO:0000250|UniProtKB:P47239}.
uniprot
proteins
protein_family
Paired homeobox family
uniprot
proteins
pubmed
10393185
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16830101
uniprot
proteins
pubmed
2501086
uniprot
proteins
pubmed
31092906
uniprot
proteins
pubmed
7527137
uniprot
proteins
pubmed
8187070
uniprot
proteins
pubmed
9339373
uniprot
proteins
sequence_length
505
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P47239}.
uniprot
proteins