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TP63 tumor protein p63 [ Homo sapiens (human) ]

Gene ID: 8626, updated on 22-Dec-2014
Official Symbol
TP63provided by HGNC
Official Full Name
tumor protein p63provided by HGNC
Primary source
HGNC:HGNC:15979
See related
Ensembl:ENSG00000073282; HPRD:04469; MIM:603273; Vega:OTTHUMG00000156313
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AIS; KET; LMS; NBP; RHS; p40; p51; p63; EEC3; OFC8; p73H; p73L; SHFM4; TP53L; TP73L; p53CP; TP53CP; B(p51A); B(p51B)
Summary
This gene encodes a member of the p53 family of transcription factors. An animal model, p63 -/- mice, has been useful in defining the role this protein plays in the development and maintenance of stratified epithelial tissues. p63 -/- mice have several developmental defects which include the lack of limbs and other tissues, such as teeth and mammary glands, which develop as a result of interactions between mesenchyme and epithelium. 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. Both alternative splicing and the use of alternative promoters results in multiple transcript variants encoding different proteins. Many transcripts encoding different proteins have been reported but the biological validity and the full-length nature of these variants have not been determined. [provided by RefSeq, Jul 2008]
See TP63 in Epigenomics, MapViewer
Location:
3q28
Exon count:
17
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 3 NC_000003.12 (189631160..189897279)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (189348942..189615068)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724756 Neighboring gene tumor protein p63 regulated 1 Neighboring gene TPRG1 antisense RNA 2 Neighboring gene microRNA 944 Neighboring gene methylthioadenosine phosphorylase pseudogene 2 Neighboring gene prolyl 3-hydroxylase 2 Neighboring gene P3H2 antisense RNA 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
ADULT syndrome
MedGen: C1863204 OMIM: 103285 GeneReviews: Not available
Compare labs
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
MedGen: C1858562 OMIM: 604292 GeneReviews: Not available
Compare labs
Hay-Wells syndrome of ectodermal dysplasia Compare labs
Limb-mammary syndrome
MedGen: C1863753 OMIM: 603543 GeneReviews: Not available
Compare labs
Rapp-Hodgkin ectodermal dysplasia syndrome
MedGen: C1785148 OMIM: 129400 GeneReviews: Not available
Compare labs
Split-hand/foot malformation 4
MedGen: C1854442 OMIM: 605289 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-09-06)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated (2012-09-06)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and 22q12.2 in Han Chinese.
NHGRI GWA Catalog
A genome-wide association study identifies two new susceptibility loci for lung adenocarcinoma in the Japanese population.
NHGRI GWA Catalog
A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.
NHGRI GWA Catalog
A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer.
NHGRI GWA Catalog
Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia.
NHGRI GWA Catalog
Genome-wide association study identifies multiple loci associated with bladder cancer risk.
NHGRI GWA Catalog
Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.
NHGRI GWA Catalog
Sequence variant on 8q24 confers susceptibility to urinary bladder cancer.
NHGRI GWA Catalog
Variation in TP63 is associated with lung adenocarcinoma susceptibility in Japanese and Korean populations.
NHGRI GWA Catalog
  • Apoptosis, organism-specific biosystem (from WikiPathways)
    Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
  • Direct p53 effectors, organism-specific biosystem (from Pathway Interaction Database)
    Direct p53 effectors, organism-specific biosystem
    Direct p53 effectors
  • MicroRNAs in cancer, organism-specific biosystem (from KEGG)
    MicroRNAs in cancer, organism-specific biosystemMicroRNA (miRNA) is a cluster of small non-encoding RNA molecules of 21 - 23 nucleotides in length, which controls gene expression post-transcriptionally either via the degradation of target mRNAs or...
  • MicroRNAs in cancer, conserved biosystem (from KEGG)
    MicroRNAs in cancer, conserved biosystemMicroRNA (miRNA) is a cluster of small non-encoding RNA molecules of 21 - 23 nucleotides in length, which controls gene expression post-transcriptionally either via the degradation of target mRNAs or...
  • TP53 network, organism-specific biosystem (from WikiPathways)
    TP53 network, organism-specific biosystemP53 is not a lonely genome guardian, it operates with the assistance of p73 and p63 within a complex network including distinct but complementary pathways. This protein family presents a high le...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding NAS
Non-traceable Author Statement
more info
PubMed 
RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA
Inferred from Electronic Annotation
more info
 
WW domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
chromatin binding IBA
Inferred from Biological aspect of Ancestor
more info
 
chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
damaged DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
double-stranded DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
p53 binding IBA
Inferred from Biological aspect of Ancestor
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
sequence-specific DNA binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
transcription factor binding transcription factor activity IEA
Inferred from Electronic Annotation
more info
 
transcription regulatory region DNA binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator IBA
Inferred from Biological aspect of Ancestor
more info
 
Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
apoptotic process TAS
Traceable Author Statement
more info
PubMed 
cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to UV IBA
Inferred from Biological aspect of Ancestor
more info
 
chromatin remodeling IEA
Inferred from Electronic Annotation
more info
 
cloacal septation IEA
Inferred from Electronic Annotation
more info
 
ectoderm and mesoderm interaction IEA
Inferred from Electronic Annotation
more info
 
embryonic limb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
epidermal cell division IEA
Inferred from Electronic Annotation
more info
 
epithelial cell development IEA
Inferred from Electronic Annotation
more info
 
establishment of planar polarity IEA
Inferred from Electronic Annotation
more info
 
establishment of skin barrier ISS
Inferred from Sequence or Structural Similarity
more info
 
female genitalia morphogenesis IEA
Inferred from Electronic Annotation
more info
 
hair follicle morphogenesis IEA
Inferred from Electronic Annotation
more info
 
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator IBA
Inferred from Biological aspect of Ancestor
more info
 
keratinocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
keratinocyte proliferation IEA
Inferred from Electronic Annotation
more info
 
mitotic G1 DNA damage checkpoint IBA
Inferred from Biological aspect of Ancestor
more info
 
multicellular organismal aging IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cellular senescence IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of keratinocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of mesoderm development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription from RNA polymerase II promoter IBA
Inferred from Biological aspect of Ancestor
more info
 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
odontogenesis of dentin-containing tooth IEA
Inferred from Electronic Annotation
more info
 
polarized epithelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of Notch signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell cycle G1/S phase transition IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of fibroblast apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of keratinocyte proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of mesenchymal cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of osteoblast differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
post-anal tail morphogenesis IEA
Inferred from Electronic Annotation
more info
 
prostatic bud formation IEA
Inferred from Electronic Annotation
more info
 
protein homotetramerization IPI
Inferred from Physical Interaction
more info
PubMed 
proximal/distal pattern formation IEA
Inferred from Electronic Annotation
more info
 
regulation of epidermal cell division ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of neuron apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
 
replicative cell aging IEA
Inferred from Electronic Annotation
more info
 
response to X-ray IBA
Inferred from Biological aspect of Ancestor
more info
 
response to gamma radiation IBA
Inferred from Biological aspect of Ancestor
more info
 
skeletal system development IEA
Inferred from Electronic Annotation
more info
 
smooth muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
squamous basal epithelial stem cell differentiation involved in prostate gland acinus development IEA
Inferred from Electronic Annotation
more info
 
sympathetic nervous system development IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
urinary bladder development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
chromatin IBA
Inferred from Biological aspect of Ancestor
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
 
dendrite IBA
Inferred from Biological aspect of Ancestor
more info
 
nuclear chromatin IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus NAS
Non-traceable Author Statement
more info
PubMed 
rough endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
transcription factor complex IBA
Inferred from Biological aspect of Ancestor
more info
 
Preferred Names
tumor protein 63
Names
tumor protein 63
CUSP
transformation-related protein 63
tumor protein p53-competing protein
amplified in squamous cell carcinoma
chronic ulcerative stomatitis protein
keratinocyte transcription factor KET
tumor protein p63 deltaN isoform delta

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007550.1 

    Range
    5001..270853
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001114978.1NP_001108450.1  tumor protein 63 isoform 2

    See proteins identical to NP_001108450.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 3' coding region that results in a frameshift, compared to variant 1. The resulting protein (isoform 2, also known as TAp63beta) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC063939, AC078809, AC117486, AF075432, CB241431
    Consensus CDS
    CCDS46976.1
    UniProtKB/Swiss-Prot
    Q9H3D4
    Conserved Domains (2) summary
    cd08367
    Location:177358
    P53; P53 DNA-binding domain
    pfam07710
    Location:397432
    P53_tetramer; P53 tetramerization motif
  2. NM_001114979.1NP_001108451.1  tumor protein 63 isoform 3

    See proteins identical to NP_001108451.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 3' UTR and coding region, compared to variant 1. The resulting protein (isoform 3, also known as TAp63gamma and p51A) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AB016072, AC063939, AC078809, AC117486, AF075428
    Consensus CDS
    CCDS46977.1
    UniProtKB/Swiss-Prot
    Q9H3D4
    Related
    ENSP00000407144, OTTHUMP00000209733, ENST00000418709, OTTHUMT00000343866
    Conserved Domains (2) summary
    cd08367
    Location:177358
    P53; P53 DNA-binding domain
    pfam07710
    Location:397432
    P53_tetramer; P53 tetramerization motif
  3. NM_001114980.1NP_001108452.1  tumor protein 63 isoform 4

    See proteins identical to NP_001108452.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and coding region, compared to variant 1. The resulting protein (isoform 4, also known as deltaNp63alpha, CUSP and p73H) is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC063939, AF075431, CB241431
    Consensus CDS
    CCDS46978.1
    UniProtKB/Swiss-Prot
    Q9H3D4
    Related
    ENSP00000346614, OTTHUMP00000209735, ENST00000354600, OTTHUMT00000343868
    Conserved Domains (4) summary
    cd08367
    Location:83264
    P53; P53 DNA-binding domain
    cd09572
    Location:449513
    SAM_tumor-p63; SAM domain of tumor-p63 proteins
    smart00454
    Location:447512
    SAM; Sterile alpha motif
    pfam07710
    Location:303338
    P53_tetramer; P53 tetramerization motif
  4. NM_001114981.1NP_001108453.1  tumor protein 63 isoform 5

    See proteins identical to NP_001108453.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and coding region, and also lacks an exon in the 3' coding region that results in a frameshift, compared to variant 1. The resulting protein (isoform 5, also known as deltaNp63beta) is shorter and has distinct N- and C-termini, compared to isoform 1.
    Source sequence(s)
    AC063939, AF075433, CB241431
    Consensus CDS
    CCDS46979.1
    UniProtKB/Swiss-Prot
    Q9H3D4
    Conserved Domains (2) summary
    cd08367
    Location:83264
    P53; P53 DNA-binding domain
    pfam07710
    Location:303338
    P53_tetramer; P53 tetramerization motif
  5. NM_001114982.1NP_001108454.1  tumor protein 63 isoform 6

    See proteins identical to NP_001108454.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and coding region, and in the 3' UTR and coding region, compared to variant 1. The resulting protein (isoform 6, also known as deltaNp63gamma) is shorter and has distinct N- and C-termini, compared to isoform 1.
    Source sequence(s)
    AC063939, AF075429
    Consensus CDS
    CCDS46980.1
    UniProtKB/Swiss-Prot
    Q9H3D4
    Related
    ENSP00000392488, OTTHUMP00000209738, ENST00000437221, OTTHUMT00000343873
    Conserved Domains (2) summary
    cd08367
    Location:83264
    P53; P53 DNA-binding domain
    pfam07710
    Location:303338
    P53_tetramer; P53 tetramerization motif
  6. NM_003722.4NP_003713.3  tumor protein 63 isoform 1

    See proteins identical to NP_003713.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the longest transcript and encodes the longest protein (isoform 1, also known as TAp63alpha, KET and p51B).
    Source sequence(s)
    AC063939, BC039815, CB241431
    Consensus CDS
    CCDS3293.1
    UniProtKB/Swiss-Prot
    Q9H3D4
    Related
    ENSP00000264731, OTTHUMP00000209732, ENST00000264731, OTTHUMT00000343865
    Conserved Domains (5) summary
    cd08367
    Location:177358
    P53; P53 DNA-binding domain
    cd09572
    Location:543607
    SAM_tumor-p63; SAM domain of tumor-p63 proteins
    smart00454
    Location:541606
    SAM; Sterile alpha motif
    pfam07710
    Location:397432
    P53_tetramer; P53 tetramerization motif
    pfam08430
    Location:455534
    Fork_head_N; Forkhead N-terminal region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000003.12 

    Range
    189631160..189897279
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005247844.2XP_005247901.1  

    See proteins identical to XP_005247901.1

    Conserved Domains (5) summary
    cd08367
    Location:160341
    P53; P53 DNA-binding domain
    cd09572
    Location:526590
    SAM_tumor-p63; SAM domain of tumor-p63 proteins
    smart00454
    Location:524589
    SAM; Sterile alpha motif
    pfam07710
    Location:380415
    P53_tetramer; P53 tetramerization motif
    cl21535
    Location:438517
    DAZAP2; DAZ associated protein 2 (DAZAP2)
  2. XM_005247843.1XP_005247900.1  

    See proteins identical to XP_005247900.1

    UniProtKB/Swiss-Prot
    Q9H3D4
    Conserved Domains (5) summary
    cd08367
    Location:177358
    P53; P53 DNA-binding domain
    cd09572
    Location:539603
    SAM_tumor-p63; SAM domain of tumor-p63 proteins
    smart00454
    Location:537602
    SAM; Sterile alpha motif
    pfam07710
    Location:393428
    P53_tetramer; P53 tetramerization motif
    cl21535
    Location:451530
    DAZAP2; DAZ associated protein 2 (DAZAP2)
  3. XM_005247846.1XP_005247903.1  

    Conserved Domains (2) summary
    cd08367
    Location:177358
    P53; P53 DNA-binding domain
    pfam07710
    Location:393428
    P53_tetramer; P53 tetramerization motif

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 

    Range
    189312090..189577623
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000135.1 

    Range
    186752882..187012887
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)