TP63 - tumor protein p63 Gene
Also Known as AIS; KET; LMS; NBP; RHS; p40; p51; p63; EEC3; OFC8; p73H; p73L; SHFM4; TP53L; TP73L; p53CP; TP53CP; B(p51A); B(p51B)
Species: Homo sapiens
About TP63
This gene has 14 transcripts (splice variants), 216 orthologues, 2 paralogues and is associated with 127 phenotypes. Biased expression in skin (RPKM 45.0), esophagus (RPKM 18.6) and 3 other tissues.
Summary
This gene encodes a member of the p53 family of transcription factors. The functional domains of p53 family proteins include an N-terminal transactivation domain, a central DNA-binding domain and an oligomerization domain. Alternative splicing of this gene and the use of alternative promoters results in multiple transcript variants encoding different isoforms that vary in their functional properties. These isoforms function during skin development and maintenance, adult stem/progenitor cell regulation, heart development and premature aging. Some isoforms have been found to protect the germline by eliminating oocytes or testicular germ cells that have suffered DNA damage. Mutations in this gene are associated with ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3); split-hand/foot malformation 4 (SHFM4); ankyloblepharon-ectodermal defects-cleft lip/palate; ADULT syndrome (acro-dermato-ungual-lacrimal-tooth); limb-mammary syndrome; Rap-Hodgkin syndrome (RHS); and orofacial cleft 8. [provided by RefSeq, Aug 2016]
TP63 Products (13)
| mRNA | Protein | Name |
|---|---|---|
| NM_001114978.2 | NP_001108450.1 | tumor protein 63 isoform 2 |
| NM_001114979.2 | NP_001108451.1 | tumor protein 63 isoform 3 |
| NM_001114980.2 | NP_001108452.1 | tumor protein 63 isoform 4 |
| NM_001114981.2 | NP_001108453.1 | tumor protein 63 isoform 5 |
| NM_001114982.2 | NP_001108454.1 | tumor protein 63 isoform 6 |
| NM_001329144.2 | NP_001316073.1 | tumor protein 63 isoform 7 |
| NM_001329145.2 | NP_001316074.1 | tumor protein 63 isoform 8 |
| NM_001329146.2 | NP_001316075.1 | tumor protein 63 isoform 9 |
| NM_001329148.2 | NP_001316077.1 | tumor protein 63 isoform 10 |
| NM_001329149.2 | NP_001316078.1 | tumor protein 63 isoform 11 |
| NM_001329150.2 | NP_001316079.1 | tumor protein 63 isoform 12 |
| NM_001329964.2 | NP_001316893.1 | tumor protein 63 isoform 13 |
| NM_003722.5 | NP_003713.3 | tumor protein 63 isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables DNA-binding transcription factor activity |
IMP
IMP: Inferred from mutant phenotype
|
25417702 | GOA |
| enables MDM2/MDM4 family protein binding |
IPI
IPI: Inferred from physical interaction
|
25417702 | GOA |
| enables RNA polymerase II transcription regulatory region sequence-specific DNA binding |
IDA
IDA: Inferred from direct assay
|
28827783 | GOA |
| enables WW domain binding |
IPI
IPI: Inferred from physical interaction
|
19451233 | GOA |
| enables chromatin binding |
IDA
IDA: Inferred from direct assay
|
20123734 | GOA |
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
10373484 | GOA |
| enables p53 binding |
IPI
IPI: Inferred from physical interaction
|
25417702 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
11278685 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in chromatin |
IDA
IDA: Inferred from direct assay
|
22521434 | GOA |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
10657951 | GOA |
| located in nucleoplasm |
IDA
IDA: Inferred from direct assay
|
20123734 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
10657951 | GOA |
TP63 Protein Structure
P53: P53 DNA-binding domain (164 - 358)
P53_tetramer: P53 tetramerisation motif (391 - 431)
SAM_2: SAM domain (Sterile alpha motif) (541 - 604)
- 0
- 200
- 400
- 600
- 680 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
tumor protein 63 |
|
TP63 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
TP63 | Q9H3D4 | SMAD2 | Homo sapiens | Q15796 | 21741598 | |
|
Intra
|
TP63 | Q9H3D4 | YAP1 | Homo sapiens | P46937 | 11278685 | |
|
Intra
|
TP63 | Q9H3D4 | HNRNPAB | Homo sapiens | Q99729 | 20085233 | |
|
Intra
|
TP63 | Q9H3D4 | ITCH | Homo sapiens | Q96J02 | 16908849 | |
|
Intra
|
TP63 | Q9H3D4 | TP63 | Homo sapiens | Q9H3D4 | 21464285 | |
|
Intra
|
TP63 | Q9H3D4 | TP73 | Homo sapiens | O15350 | 33961781 | |
|
Intra
|
TP63 | Q9H3D4 | TP73 | Homo sapiens | O15350 | 22252508 | |
|
Intra
|
TP63 | Q9H3D4 | TP73 | Homo sapiens | O15350 | 19815500 | |
|
Intra
|
TP63 | Q9H3D4 | TP53 | Homo sapiens | P04637 | 21741598 | |
|
Intra
|
TP63 | Q9H3D4 | TP73 | Homo sapiens | O15350 | 34591642 | |
|
Intra
|
TP63 | Q9H3D4 | TP63 | Homo sapiens | Q9H3D4 | 21335238 | |
|
Intra
|
TP63 | Q9H3D4 | TP63 | Homo sapiens | Q9H3D4 | 19815500 | |
|
Intra
|
TP63 | Q9H3D4 | TP63 | Homo sapiens | Q9H3D4 | 19815500 | |
|
Intra
|
TP63 | Q9H3D4 | HNRNPK | Homo sapiens | P61978 | 20085233 | |
|
Intra
|
TP63 | Q9H3D4 | HIPK2 | Homo sapiens | Q9H2X6 | 21602882 | |
|
Intra
|
TP63 | Q9H3D4 | FUS | Homo sapiens | P35637 | 20085233 | |
|
Intra
|
TP63 | Q9H3D4 | PELI2 | Homo sapiens | Q9HAT8 | 32296183 | |
|
Intra
|
TP63 | Q9H3D4 | PRKCD | Homo sapiens | Q05655 | 26112605 | |
|
Intra
|
TP63 | Q9H3D4 | TP53BP2 | Homo sapiens | Q13625 | 18275817 |
Recombinant TP63 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P73734 | p63/TP73L Protein, Human (sf9, His-GST) | Q9H3D4 (M1-E680) | ≥ 90%, as determined by reducing SDS-PAGE. |
TP63 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P81786 | p63 Antibody (YA1531) | WB, IHC-P, ICC/IF, FC | Human, Mouse, Rat |
| HY-P84795 | p63 Antibody (YA4492) | WB, IHC-P, ELISA | Human, Mouse, Rat, Monkey |
| HY-P84795A | p63 Antibody (YA4492)(PBS only) | WB, IHC-P, ELISA | Human, Mouse, Rat, Monkey |
| HY-P84796 | p63 Antibody (YA4493) | IHC-P, FC, ELISA | Human |
| HY-P84796A | p63 Antibody (YA4493)(PBS only) | IHC-P, FC, ELISA | Human |
| HY-P86227 | p63 Antibody (YA5919) | WB, IHC-P, ICC/IF, IP, ELISA | Human, Mouse, Rat |
| HY-P86745 | p63 Antibody (YA6437) | WB, FC | Human |
| HY-P86745A | p63 Antibody (YA6437)(PBS only) | WB, FC | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Adult Syndrome |
|
|
| Limb-Mammary Syndrome |
|
|
| Split-Hand/Foot Malformation 4 |
|
|
| Rapp-Hodgkin Syndrome |
|
|
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
|
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
|
| Orofacial Cleft 8 |
|
|
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
|
| Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
|
| Isolated Split Hand-Split Foot Malformation |
|
|
| Premature Menopause |
|
|
| Cleft Lip/Palate |
|
|
| Ulcerative Stomatitis |
|
|
| Fissured Tongue |
|
|
| Bladder Exstrophy |
|
|
| Cleft Lip |
|
|
| Ectodermal Dysplasia |
|
|
| Actinic Keratosis |
|
|
| Split Hand-Foot Malformation |
|
|
| Oral Lichen Planus |
|
|
| Isolated Cleft Lip |
|
|
| Cleft Lip And Alveolus |
|
|
| Adenosquamous Carcinoma |
|
|
| Tp63-Related Disorders |
|
|
| Salivary Gland Carcinoma |
|
|
| Intraductal Papilloma |
|
|
| Squamous Cell Carcinoma |
|
|
| Myoepithelioma |
|
|
| Orofacial Cleft |
|
|
| Thymic Carcinoma |
|
|
| Clouston Syndrome |
|
|
| Mucoepidermoid Carcinoma |
|
|
| Stomatitis |
|
|
| Cervical Squamous Cell Carcinoma |
|
|
| Alopecia |
|
|
| Aging |
|
|
| Pleomorphic Adenoma |
|
|
| Split-Hand/Foot Malformation 1 |
|
|
| Transitional Cell Carcinoma |
|
|
| Main Bronchus Cancer |
|
|
| Cribriform Carcinoma |
|
|
| Neuroendocrine Carcinoma |
|
|
| Papillary Carcinoma |
|
|
| Adenoid Cystic Carcinoma |
|
|
| Papilloma |
|
|
| Trophoblastic Neoplasm |
|
|
| Papillary Thyroid Microcarcinoma |
|
|
| Basal Cell Carcinoma |
|
|
| Large Cell Carcinoma |
|
|
| Premature Aging |
|
|
| Thymoma |
|
|
| Cleft Palate, Isolated |
|
|
| Orofacial Cleft 4 |
|
|
| Lung Cancer |
|
|
| Chromosome 2q35 Duplication Syndrome |
|
|
| Laryngeal Squamous Cell Carcinoma |
|
|
| Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive |
|
|
| Bladder Cancer |
|
|
| Split-Hand/Foot Malformation 3 |
|
|
| Nail Disorder, Nonsyndromic Congenital, 1 |
|
|
| Breast Ductal Carcinoma |
|
|
| Benign Breast Phyllodes Tumor |
|
|
| Skin Benign Neoplasm |
|
|
| Breast Implant-Associated Anaplastic Large Cell Lymphoma |
|
|
| Cervical Cancer |
|
|
| Keratoacanthoma |
|
|
| Amelogenesis Imperfecta |
|
|
| Prostate Cancer |
|
|
| Lacrimal Duct Obstruction |
|
|
| Epithelioid Sarcoma |
|
|
| Van Der Woude Syndrome |
|
|
| Breast Cancer |
|
|
| Acute Inflammation Of Lacrimal Passage |
|
|
| Dacryocystitis |
|
|
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
|
| Squamous Cell Carcinoma, Head And Neck |
|
|
| Ankyloglossia With Or Without Tooth Anomalies |
|
|
| Burkitt Lymphoma |
|
|
| Mesothelioma, Malignant |
|
|
| Skin Disease |
|
|
| Ectodermal Dysplasia 10b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
|
| Tooth Agenesis |
|
|
| Lung Cancer Susceptibility 3 |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | TP63 | MGD | MGI:1330810 |
| Canis familiaris | TP63 | VGNC | VGNC:47729 |
| Rattus norvegicus | TP63 | RGD | RGD:620863 |
| Bos taurus | TP63 | VGNC | VGNC:36240 |
| Felis catus | TP63 | VGNC | VGNC:66467 |
| Macaca mulatta | TP63 | VGNC | VGNC:79000 |
| Others | TP63 | NCBI |