Gene: TP63

Basic information

Tag Content
Uniprot ID Q9H3D4; O75080; O75195; O75922; O76078; Q6VEG2; Q6VEG3; Q6VEG4; Q6VFJ1; Q6VFJ2; Q6VFJ3; Q6VH20; Q7LDI3; Q7LDI4; Q7LDI5; Q96KR0; Q9H3D2; Q9H3D3; Q9H3P8; Q9NPH7; Q9P1B4; Q9P1B5; Q9P1B6; Q9P1B7; Q9UBV9; Q9UE10; Q9UP26; Q9UP27; Q9UP28; Q9UP74;
Entrez ID 8626
Genbank protein ID AAG45612.1; BAB20591.1; BAA32593.1; AAG45608.1; AAQ63453.1; AAF43493.1; CAC48053.1; AAQ63448.1; AAC62633.1; CAA76562.1; AAF61624.1; BAA32592.1; AAG45610.1; AAF43490.1; AAC62637.1; AAC43038.1; AAQ63449.1; AAC62638.1; AAG45609.1; AAF43491.1; AAC62635.1; AAC62634.1; AAF43488.1; AAQ63450.1; AAF43492.1; AAG45611.1; AAG45607.1; AAQ63454.1; AAF43486.1; BAA32433.1; AAF43487.1; AAQ63451.1; AAQ63452.1; AAC24830.1; AAF43489.1; AAH39815.1; AAC62636.1;
Genbank nucleotide ID NM_001114981.1; NM_001114978.1; NM_001329144.1; NM_001114979.1; NM_001114980.1; NM_001114982.1; NM_001329145.1; NM_001329146.1; XM_017007387.1; NM_003722.4; NM_001329148.1;
Ensembl protein ID ENSP00000407144; ENSP00000346614; ENSP00000376256; ENSP00000394337; ENSP00000389485; ENSP00000387839; ENSP00000392488; ENSP00000264731; ENSP00000317510; ENSP00000376253; ENSP00000376254;
Ensembl nucleotide ID ENSG00000073282
Gene name Tumor protein 63
Gene symbol TP63
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Manually collected
Reference 11159940
Functional description 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.
Sequence
MNFETSRCAT LQYCPDPYIQ RFVETPAHFS WKESYYRSTM SQSTQTNEFL SPEVFQHIWD 60
FLEQPICSVQ PIDLNFVDEP SEDGATNKIE ISMDCIRMQD SDLSDPMWPQ YTNLGLLNSM 120
DQQIQNGSSS TSPYNTDHAQ NSVTAPSPYA QPSSTFDALS PSPAIPSNTD YPGPHSFDVS 180
FQQSSTAKSA TWTYSTELKK LYCQIAKTCP IQIKVMTPPP QGAVIRAMPV YKKAEHVTEV 240
VKRCPNHELS REFNEGQIAP PSHLIRVEGN SHAQYVEDPI TGRQSVLVPY EPPQVGTEFT 300
TVLYNFMCNS SCVGGMNRRP ILIIVTLETR DGQVLGRRCF EARICACPGR DRKADEDSIR 360
KQQVSDSTKN GDGTKRPFRQ NTHGIQMTSI KKRRSPDDEL LYLPVRGRET YEMLLKIKES 420
LELMQYLPQH TIETYRQQQQ QQHQHLLQKQ TSIQSPSSYG NSSPPLNKMN SMNKLPSVSQ 480
LINPQQRNAL TPTTIPDGMG ANIPMMGTHM PMAGDMNGLS PTQALPPPLS MPSTSHCTPP 540
PPYPTDCSIV SFLARLGCSS CLDYFTTQGL TTIYQIEHYS MDDLASLKIP EQFRHAIWKG 600
ILDHRQLHEF SSPSHLLRTP SSASTVSVGS SETRGERVID AVRFTLRQTI SFPPRDEWND 660
FNFDMDARRN KQQRIKEEGE

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database


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Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologTP63615335F1MKA9Bos taurusPredictionMore>>
1:1 orthologTP63F1PL57Canis lupus familiarisPredictionMore>>
1:1 orthologTP63A0A452FUS8Capra hircusPredictionMore>>
1:1 orthologTP638626Q9H3D4Homo sapiensPublicationMore>>
1:1 orthologTp6322061O88898CPO,CLPMus musculusPublicationMore>>
1:1 orthologTP63A0A2I3RNZ6Pan troglodytesPredictionMore>>
1:1 orthologTP63A0A480T7V4Sus scrofaPredictionMore>>
1:1 orthologTP63100355881G1TBP7Oryctolagus cuniculusPredictionMore>>
1:1 orthologTp63246334Q9JJP6Rattus norvegicusPredictionMore>>
1:1 orthologtp63F1QLJ1Danio rerioPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
TP63c.1542A>T; p.L518FPCR; direct sequencing11159940
TP63c.1589G>T; p.G534VPCR; direct sequencing11159940
TP63c.1564T>G; p.G526GPCR; direct sequencing11159940
TP63c.1607A>T; p.Q540LPCR; direct sequencing11159940
TP63c.1610T>C; p.I541TPCR; direct sequencing11159940
TP63c.1540T>G; p.L518VPCR; direct sequencing11159940
TP63c.1597A>C; p.T537PPCR; direct sequencing11159940
TP63c.1566T>G; p.C526WPCR; direct sequencing11159940
TP63c.819_820dupCC; p.Gln274fs*4WES29500247
TP63c.1798G>C; p.Gly600Arg (heterozygous)sequencing32953416
TP63c.1769C>T; p.P590L (heterozygous)WES and Sanger sequencing31050217
TP63p.R304W (heterozygous)WES and Sanger sequencing30025988
TP63rs7653848Sanger sequencing32687624
TP63rs7624324Sanger sequencing32687624
TP63rs6790167Sanger sequencing32687624
TP63rs1345186Sanger sequencing32687624
TP63rs9332461A>GTaqMan genotyping assay31825181
TP63c.1324C>T; p.Q442* (heterozygous)WES and Sanger sequencing33622322

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specificISA
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specificISM
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specificIEA
GO:0002039 p53 bindingIPI
GO:0003677 DNA bindingNAS
GO:0003682 chromatin bindingIEA
GO:0003684 damaged DNA bindingIEA
GO:0003690 double-stranded DNA bindingIEA
GO:0003700 DNA-binding transcription factor activityIMP
GO:0005515 protein bindingIPI
GO:0042802 identical protein bindingIPI
GO:0043565 sequence-specific DNA bindingIEA
GO:0044212 transcription regulatory region DNA bindingIEA
GO:0046872 metal ion bindingIEA
GO:0050699 WW domain bindingIPI
GO:0097371 MDM2/MDM4 family protein bindingIPI

GO:Biological Process

GO ID GO Term Evidence
GO:0000122 negative regulation of transcription by RNA polymerase IIIEA
GO:0001302 replicative cell agingIEA
GO:0001501 skeletal system developmentIEA
GO:0001736 establishment of planar polarityIEA
GO:0002064 epithelial cell developmentIEA
GO:0006338 chromatin remodelingIEA
GO:0006915 apoptotic processTAS
GO:0007219 Notch signaling pathwayIEA
GO:0007283 spermatogenesisIEA
GO:0007499 ectoderm and mesoderm interactionIEA
GO:0008283 cell population proliferationIEA
GO:0009954 proximal/distal pattern formationIEA
GO:0010259 multicellular organism agingIEA
GO:0010481 epidermal cell divisionIEA
GO:0010482 regulation of epidermal cell divisionISS
GO:0010838 positive regulation of keratinocyte proliferationIEA
GO:0030216 keratinocyte differentiationIEA
GO:0030859 polarized epithelial cell differentiationIEA
GO:0031069 hair follicle morphogenesisIEA
GO:0033147 negative regulation of intracellular estrogen receptor signaling pathwayIEA
GO:0035115 embryonic forelimb morphogenesisIEA
GO:0035116 embryonic hindlimb morphogenesisIEA
GO:0036342 post-anal tail morphogenesisIEA
GO:0042475 odontogenesis of dentin-containing toothIEA
GO:0042771 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediatorIEA
GO:0042981 regulation of apoptotic processTAS
GO:0043281 regulation of cysteine-type endopeptidase activity involved in apoptotic processIEA
GO:0043589 skin morphogenesisIEA
GO:0045617 negative regulation of keratinocyte differentiationIEA
GO:0045669 positive regulation of osteoblast differentiationIMP
GO:0045747 positive regulation of Notch signaling pathwayIDA
GO:0045892 negative regulation of transcription, DNA-templatedIDA
GO:0045893 positive regulation of transcription, DNA-templatedIDA
GO:0045893 positive regulation of transcription, DNA-templatedIMP
GO:0045893 positive regulation of transcription, DNA-templatedNAS
GO:0045944 positive regulation of transcription by RNA polymerase IIIDA
GO:0048485 sympathetic nervous system developmentIEA
GO:0048807 female genitalia morphogenesisIEA
GO:0051262 protein tetramerizationIEA
GO:0051402 neuron apoptotic processIEA
GO:0060197 cloacal septationIEA
GO:0060513 prostatic bud formationIEA
GO:0060529 squamous basal epithelial stem cell differentiation involved in prostate gland acinus developmentIEA
GO:0061436 establishment of skin barrierISS
GO:1900740 positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathwayTAS
GO:1901796 regulation of signal transduction by p53 class mediatorTAS
GO:1904674 positive regulation of somatic stem cell population maintenanceIEA
GO:1904888 cranial skeletal system developmentIEA
GO:2000271 positive regulation of fibroblast apoptotic processIDA
GO:2000381 negative regulation of mesoderm developmentIEA

GO:Cellular Component

GO ID GO Term Evidence
GO:0000790 nuclear chromatinISA
GO:0000790 nuclear chromatinIDA
GO:0005634 nucleusIDA
GO:0005634 nucleusNAS
GO:0005654 nucleoplasmIDA
GO:0005654 nucleoplasmTAS
GO:0005737 cytoplasmIDA
GO:0005739 mitochondrionIEA
GO:0005791 rough endoplasmic reticulumIEA
GO:0030425 dendriteIEA
GO:0032991 protein-containing complexIEA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-109581 ApoptosisTAS
R-HSA-109606 Intrinsic Pathway for ApoptosisTAS
R-HSA-114452 Activation of BH3-only proteinsTAS
R-HSA-139915 Activation of PUMA and translocation to mitochondriaTAS
R-HSA-212436 Generic Transcription PathwayTAS
R-HSA-3700989 Transcriptional Regulation by TP53TAS
R-HSA-5357801 Programmed Cell DeathTAS
R-HSA-5628897 TP53 Regulates Metabolic GenesTAS
R-HSA-5633007 Regulation of TP53 ActivityTAS
R-HSA-5633008 TP53 Regulates Transcription of Cell Death GenesTAS
R-HSA-6803204 TP53 Regulates Transcription of Genes Involved in Cytochrome C ReleaseTAS
R-HSA-6803205 TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertainTAS
R-HSA-6803207 TP53 Regulates Transcription of Caspase Activators and CaspasesTAS
R-HSA-6803211 TP53 Regulates Transcription of Death Receptors and LigandsTAS
R-HSA-6804759 Regulation of TP53 Activity through Association with Co-factorsTAS
R-HSA-73857 RNA Polymerase II TranscriptionTAS
R-HSA-74160 Gene expression (Transcription)TAS

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0010 Activator
KW-0877 Alternative promoter usage
KW-0025 Alternative splicing
KW-0053 Apoptosis
KW-0217 Developmental protein
KW-0225 Disease mutation
KW-0238 DNA-binding
KW-0038 Ectodermal dysplasia
KW-1017 Isopeptide bond
KW-0479 Metal-binding
KW-0914 Notch signaling pathway
KW-0539 Nucleus
KW-1185 Reference proteome
KW-0804 Transcription
KW-0805 Transcription regulation
KW-0832 Ubl conjugation
KW-0862 Zinc

Interpro

InterPro ID InterPro Term
IPR008967 p53-like_TF_DNA-bd
IPR012346 p53/RUNT-type_TF_DNA-bd_sf
IPR011615 p53_DNA-bd
IPR036674 p53_tetramer_sf
IPR010991 p53_tetrameristn
IPR002117 p53_tumour_suppressor
IPR001660 SAM
IPR013761 SAM/pointed_sf
IPR032645 Tp63
IPR037611 Tumor-p63_SAM

PROSITE

PROSITE ID PROSITE Term
PS00348 P53

Pfam

Pfam ID Pfam Term
PF00870 P53
PF07710 P53_tetramer
PF07647 SAM_2

Protein-protein interaction

Protein-miRNA interaction