Homo sapiens Protein: TP63 | |||||||||||||||||||||||||||||||||||||||||||||||||||||
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Summary | |||||||||||||||||||||||||||||||||||||||||||||||||||||
InnateDB Protein | IDBP-245611.7 | ||||||||||||||||||||||||||||||||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene Symbol | TP63 | ||||||||||||||||||||||||||||||||||||||||||||||||||||
Protein Name | tumor protein p63 | ||||||||||||||||||||||||||||||||||||||||||||||||||||
Synonyms | AIS; B(p51A); B(p51B); EEC3; KET; LMS; NBP; OFC8; p40; p51; p53CP; p63; p73H; p73L; RHS; SHFM4; TP53CP; TP53L; TP73L; | ||||||||||||||||||||||||||||||||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||||||||||||||||||||||||||||||||
Ensembl Protein | ENSP00000376253 | ||||||||||||||||||||||||||||||||||||||||||||||||||||
InnateDB Gene | IDBG-69487 (TP63) | ||||||||||||||||||||||||||||||||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||||||||||||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||||||||||||||||||||||||||||||||
Function | Acts as a sequence specific DNA binding transcriptional activator or repressor. The isoforms contain a varying set of transactivation and auto-regulating transactivation inhibiting domains thus showing an isoform specific activity. Isoform 2 activates RIPK4 transcription. May be required in conjunction with TP73/p73 for initiation of p53/TP53 dependent apoptosis in response to genotoxic insults and the presence of activated oncogenes. Involved in Notch signaling by probably inducing JAG1 and JAG2. Plays a role in the regulation of epithelial morphogenesis. The ratio of DeltaN-type and TA*-type isoforms may govern the maintenance of epithelial stem cell compartments and regulate the initiation of epithelial stratification from the undifferentiated embryonal ectoderm. Required for limb formation from the apical ectodermal ridge. Activates transcription of the p21 promoter. {ECO:0000269PubMed:11641404, ECO:0000269PubMed:12374749, ECO:0000269PubMed:12446779, ECO:0000269PubMed:12446784, ECO:0000269PubMed:20123734, ECO:0000269PubMed:22197488, ECO:0000269PubMed:9774969}. | ||||||||||||||||||||||||||||||||||||||||||||||||||||
Subcellular Localization | Nucleus {ECO:0000269PubMed:12446779, ECO:0000269PubMed:20123734}. | ||||||||||||||||||||||||||||||||||||||||||||||||||||
Disease Associations | Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome) [MIM:103285]: A form of ectodermal dysplasia. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. ADULT syndrome involves ectrodactyly, syndactyly, finger- and toenail dysplasia, hypoplastic breasts and nipples, intensive freckling, lacrimal duct atresia, frontal alopecia, primary hypodontia and loss of permanent teeth. ADULT syndrome differs significantly from EEC3 syndrome by the absence of facial clefting. {ECO:0000269PubMed:11929852}. Note=The disease is caused by mutations affecting the gene represented in this entry.Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) [MIM:106260]: An autosomal dominant condition characterized by congenital ectodermal dysplasia with coarse, wiry, sparse hair, dystrophic nails, slight hypohidrosis, scalp infections, ankyloblepharon filiform adnatum, maxillary hypoplasia, hypodontia and cleft lip/palate. {ECO:0000269PubMed:11159940}. Note=The disease is caused by mutations affecting the gene represented in this entry.Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292]: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is an autosomal dominant syndrome characterized by ectrodactyly of hands and feet, ectodermal dysplasia and facial clefting. {ECO:0000269PubMed:10535733, ECO:0000269PubMed:10839977, ECO:0000269PubMed:11462173, ECO:0000269PubMed:12838557}. Note=The disease is caused by mutations affecting the gene represented in this entry.Split-hand/foot malformation 4 (SHFM4) [MIM:605289]: A limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting. {ECO:0000269PubMed:10839977, ECO:0000269PubMed:11462173}. Note=The disease is caused by mutations affecting the gene represented in this entry.Limb-mammary syndrome (LMS) [MIM:603543]: Characterized by ectrodactyly, cleft palate and mammary-gland abnormalities. {ECO:0000269PubMed:11462173}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=Defects in TP63 are a cause of cervical, colon, head and neck, lung and ovarian cancers.Ectodermal dysplasia, Rapp-Hodgkin type (EDRH) [MIM:129400]: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by the combination of anhidrotic ectodermal dysplasia, cleft lip, and cleft palate. The clinical syndrome is comprised of a characteristic facies (narrow nose and small mouth), wiry, slow-growing, and uncombable hair, sparse eyelashes and eyebrows, obstructed lacrimal puncta/epiphora, bilateral stenosis of external auditory canals, microsomia, hypodontia, cone-shaped incisors, enamel hypoplasia, dystrophic nails, and cleft lip/cleft palate. {ECO:0000269PubMed:12766194, ECO:0000269PubMed:12939657, ECO:0000269PubMed:15200513, ECO:0000269PubMed:16740912}. Note=The disease is caused by mutations affecting the gene represented in this entry.Non-syndromic orofacial cleft 8 (OFC8) [MIM:129400]: A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||||||||||||||||||||||||||||||||
Tissue Specificity | Widely expressed, notably in heart, kidney, placenta, prostate, skeletal muscle, testis and thymus, although the precise isoform varies according to tissue type. Progenitor cell layers of skin, breast, eye and prostate express high levels of DeltaN-type isoforms. Isoform 10 is predominantly expressed in skin squamous cell carcinomas, but not in normal skin tissues. {ECO:0000269PubMed:11248048, ECO:0000269PubMed:9774969}. | ||||||||||||||||||||||||||||||||||||||||||||||||||||
Comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||
Interactions | |||||||||||||||||||||||||||||||||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 159 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||||||||||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||||||||||||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||||||||||||||||||||||||||||||||
InterPro |
IPR002117
p53 tumour suppressor family IPR008967 p53-like transcription factor, DNA-binding IPR010991 p53, tetramerisation domain IPR011615 p53, DNA-binding domain |
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PFAM |
PF07710
PF00870 |
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PRINTS |
PR00386
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PIRSF | |||||||||||||||||||||||||||||||||||||||||||||||||||||
SMART | |||||||||||||||||||||||||||||||||||||||||||||||||||||
TIGRFAMs | |||||||||||||||||||||||||||||||||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||||||||||||||||||||||||||||||||
Modification | |||||||||||||||||||||||||||||||||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||||||||||||||||||||||||||||||||
SwissProt | Q9H3D4 | ||||||||||||||||||||||||||||||||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q9H3D4 | ||||||||||||||||||||||||||||||||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||||||||||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||||||||||||||||||||||||||||||
Entrez Gene | 8626 | ||||||||||||||||||||||||||||||||||||||||||||||||||||
UniGene | Hs.137569 | ||||||||||||||||||||||||||||||||||||||||||||||||||||
RefSeq | NP_001108450 | ||||||||||||||||||||||||||||||||||||||||||||||||||||
HUGO | HGNC:15979 | ||||||||||||||||||||||||||||||||||||||||||||||||||||
OMIM | 603273 | ||||||||||||||||||||||||||||||||||||||||||||||||||||
CCDS | CCDS46976 | ||||||||||||||||||||||||||||||||||||||||||||||||||||
HPRD | 04469 | ||||||||||||||||||||||||||||||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||||||||||||||||||||||||||||||
EMBL | AB010153 AB016072 AB016073 AB042841 AF061512 AF075428 AF075429 AF075430 AF075431 AF075432 AF075433 AF091627 AF116756 AF116757 AF116758 AF116759 AF116760 AF116761 AF116762 AF116763 AF116764 AF116765 AF116766 AF116767 AF116768 AF116769 AF116770 AF116771 AF124528 AF124529 AF124530 AF124531 AF124532 AF124533 AF124534 AF124535 AF124536 AF124537 AF124538 AF124539 AF124540 AJ315499 AY339663 AY339664 AY341142 AY341143 AY341144 AY341145 AY342152 AY342153 AY342154 BC039815 Y16961 | ||||||||||||||||||||||||||||||||||||||||||||||||||||
GenPept | AAC24830 AAC43038 AAC62633 AAC62634 AAC62635 AAC62636 AAC62637 AAC62638 AAF43486 AAF43487 AAF43488 AAF43489 AAF43490 AAF43491 AAF43492 AAF43493 AAF61624 AAG45607 AAG45608 AAG45609 AAG45610 AAG45611 AAG45612 AAH39815 AAQ63448 AAQ63449 AAQ63450 AAQ63451 AAQ63452 AAQ63453 AAQ63454 BAA32433 BAA32592 BAA32593 BAB20591 CAA76562 CAC48053 | ||||||||||||||||||||||||||||||||||||||||||||||||||||