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 |
gptkb:transcription_factor
regulation of cell proliferation regulation of epithelial development |
| gptkbp:geneType |
protein-coding
|
| gptkbp:hasPseudogene |
yes
|
| gptkbp:hasTranscriptVariant |
gptkb:ΔNp63
gptkb:TAp63 |
| gptkbp:HGNC_ID |
HGNC:12003
|
| 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 |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
TP63 gene
|