Statements (54)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alternativeName |
gptkb:p63
gptkb:KET p40 TP73L p51 Cleft lip/palate ectodermal dysplasia syndrome protein |
gptkbp:associatedWith |
Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC)
Limb-mammary syndrome (LMS) Rapp-Hodgkin syndrome Split hand/foot malformation type 4 (SHFM4) Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC) |
gptkbp:biologicalProcess |
cell proliferation
apoptotic process DNA-binding transcription factor activity epithelial cell differentiation |
gptkbp:discoveredBy |
Yang et al.
|
gptkbp:discoveredIn |
1998
|
gptkbp:encodes |
gptkb:Tumor_protein_p63
|
gptkbp:Entrez_Gene_ID |
8626
|
gptkbp:expressedIn |
gptkb:skin
gptkb:prostate epithelial tissues urothelium |
gptkbp:function |
regulation of cell proliferation
transcription factor regulation of epithelial development |
gptkbp:geneType |
protein-coding
|
gptkbp:hasPseudogene |
yes
|
gptkbp:hasTranscriptVariant |
gptkb:ΔNp63
gptkb:TAp63 |
gptkbp:HGNC_ID |
HGNC:12003
|
https://www.w3.org/2000/01/rdf-schema#label |
TP63 gene
|
gptkbp:length |
680 amino acids (canonical isoform)
|
gptkbp:locatedOnChromosome |
gptkb:chromosome_3
3q28 |
gptkbp:molecularWeight |
75 kDa (approximate)
|
gptkbp:mutationAssociatedWith |
developmental disorders
congenital malformations |
gptkbp:OMIM |
603273
|
gptkbp:organism |
gptkb:Homo_sapiens
|
gptkbp:orthologIn |
mouse Trp63
zebrafish tp63 |
gptkbp:proteinFamily |
gptkb:p53_family
|
gptkbp:regulates |
apoptosis
stem cell maintenance cell cycle arrest epidermal differentiation |
gptkbp:relatedTo |
gptkb:TP53_gene
gptkb:TP73_gene |
gptkbp:subcellularLocation |
gptkb:nucleus
|
gptkbp:UniProtID |
gptkb:Q9H3D4
|
gptkbp:bfsParent |
gptkb:p63
|
gptkbp:bfsLayer |
6
|