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TP63 tumor protein p63 [ Homo sapiens (human) ]

Gene ID: 8626, updated on 17-Jun-2018
Official Symbol
TP63provided by HGNC
Official Full Name
tumor protein p63provided by HGNC
Primary source
HGNC:HGNC:15979
See related
Ensembl:ENSG00000073282 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. 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]
Expression
Biased expression in skin (RPKM 45.0), esophagus (RPKM 18.6) and 3 other tissues See more
Orthologs
See TP63 in Genome Data Viewer
Location:
3q28
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (189596746..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 LOC105374270 Neighboring gene uncharacterized LOC107986169 Neighboring gene TAp63 promoter of tumor protein p63 Neighboring gene DeltaNp63 promoter of tumor protein p63 Neighboring gene microRNA 944 Neighboring gene methylthioadenosine phosphorylase pseudogene 2 Neighboring gene prolyl 3-hydroxylase 2 Neighboring gene P3H2 antisense RNA 1

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.
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
  • Activation of BH3-only proteins, organism-specific biosystem (from REACTOME)
    Activation of BH3-only proteins, organism-specific biosystemThe BH3-only members act as sentinels that selectively trigger apoptosis in response to developmental cues or stress-signals like DNA damages. Widely expressed mammalian BH3-only proteins are thought...
  • Activation of PUMA and translocation to mitochondria, organism-specific biosystem (from REACTOME)
    Activation of PUMA and translocation to mitochondria, organism-specific biosystemPuma is transactivated in a p53-dependent manner and by E2F1. Activated Puma is translocated to mitochondria.
  • 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 ...
  • Apoptosis, organism-specific biosystem (from REACTOME)
    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
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • Hypothetical Craniofacial Development Pathway, organism-specific biosystem (from WikiPathways)
    Hypothetical Craniofacial Development Pathway, organism-specific biosystemHypothetical pathway linking cranio-facial development pathway (IRF6, TP63, TFAP2A, and TGFB3) to Rho signaling pathway through ARHGAP29 regulation. Authors of literature suspect that a decrease of A...
  • Intrinsic Pathway for Apoptosis, organism-specific biosystem (from REACTOME)
    Intrinsic Pathway for Apoptosis, organism-specific biosystemThe intrinsic (Bcl-2 inhibitable or mitochondrial) pathway of apoptosis functions in response to various types of intracellular stress including growth factor withdrawal, DNA damage, unfolding stress...
  • 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...
  • Programmed Cell Death, organism-specific biosystem (from REACTOME)
    Programmed Cell Death, organism-specific biosystemCell death is a fundamental cellular response that has a crucial role in shaping our bodies during development and in regulating tissue homeostasis by eliminating unwanted cells. There are a number o...
  • Regulation of TP53 Activity, organism-specific biosystem (from REACTOME)
    Regulation of TP53 Activity, organism-specific biosystemProtein stability and transcriptional activity of TP53 (p53) tumor suppressor are regulated by post-translational modifications that include ubiquitination, phosphorylation, acetylation, methylation,...
  • Regulation of TP53 Activity through Association with Co-factors, organism-specific biosystem (from REACTOME)
    Regulation of TP53 Activity through Association with Co-factors, organism-specific biosystemAssociation of TP53 (p53) with various transcriptional co-factors can promote, inhibit or provide specificity towards either transcription of cell cycle arrest genes or transcription of cell death ge...
  • 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...
  • TP53 Regulates Metabolic Genes, organism-specific biosystem (from REACTOME)
    TP53 Regulates Metabolic Genes, organism-specific biosystemWhile the p53 tumor suppressor protein (TP53) is known to inhibit cell growth by inducing apoptosis, senescence and cell cycle arrest, recent studies have found that p53 is also able to influence cel...
  • TP53 Regulates Transcription of Caspase Activators and Caspases, organism-specific biosystem (from REACTOME)
    TP53 Regulates Transcription of Caspase Activators and Caspases, organism-specific biosystemTP53 (p53) transcriptionally regulates cytosolic caspase activators, such as APAF1, PIDD1, and NLRC4, and caspases themselves, such as CASP1, CASP6 and CASP10. These caspases and their activators are...
  • TP53 Regulates Transcription of Cell Death Genes, organism-specific biosystem (from REACTOME)
    TP53 Regulates Transcription of Cell Death Genes, organism-specific biosystemThe tumor suppressor TP53 (p53) exerts its tumor suppressive role in part by regulating transcription of a number of genes involved in cell death, mainly apoptotic cell death. The majority of apoptot...
  • TP53 Regulates Transcription of Death Receptors and Ligands, organism-specific biosystem (from REACTOME)
    TP53 Regulates Transcription of Death Receptors and Ligands, organism-specific biosystemPro-apoptotic transcriptional targets of TP53 are TRAIL death receptors TNFRSF10A (DR4), TNFRSF10B (DR5), TNFRSF10C (DcR1) and TNFRSF10D (DcR2), as well as the FASL/CD95L death receptor FAS (CD95). T...
  • TP53 Regulates Transcription of Genes Involved in Cytochrome C Release, organism-specific biosystem (from REACTOME)
    TP53 Regulates Transcription of Genes Involved in Cytochrome C Release, organism-specific biosystemApoptotic transcriptional targets of TP53 include genes that regulate the permeability of the mitochondrial membrane and/or cytochrome C release, such as BAX, BID, PMAIP1 (NOXA), BBC3 (PUMA) and prob...
  • TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain, organism-specific biosystem (from REACTOME)
    TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain, organism-specific biosystemThe exact mechanisms of action of several other pro-apoptotic TP53 (p53) targets, such as TP53I3 (PIG3), RABGGTA, BCL2L14, BCL6, NDRG1 and PERP, remain uncertain (Attardi et al. 2000, Guo et al. 2001...
  • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
    Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
apoptotic process TAS
Traceable Author Statement
more info
PubMed 
chromatin remodeling IEA
Inferred from Electronic Annotation
more info
 
cloacal septation IEA
Inferred from Electronic Annotation
more info
 
cranial skeletal system development IEA
Inferred from Electronic Annotation
more info
 
ectoderm and mesoderm interaction IEA
Inferred from Electronic Annotation
more info
 
embryonic forelimb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
embryonic hindlimb 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
 
keratinocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
keratinocyte proliferation IEA
Inferred from Electronic Annotation
more info
 
multicellular organism aging IEA
Inferred from Electronic Annotation
more info
 
negative regulation of intracellular estrogen receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
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, 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 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 protein insertion into mitochondrial membrane involved in apoptotic signaling pathway TAS
Traceable Author Statement
more info
 
positive regulation of somatic stem cell population maintenance IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II 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 IMP
Inferred from Mutant Phenotype
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 apoptotic process TAS
Traceable Author Statement
more info
 
regulation of cysteine-type endopeptidase activity involved in apoptotic process IEA
Inferred from Electronic Annotation
more info
 
regulation of epidermal cell division ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of signal transduction by p53 class mediator TAS
Traceable Author Statement
more info
 
replicative cell aging IEA
Inferred from Electronic Annotation
more info
 
skeletal system development IEA
Inferred from Electronic Annotation
more info
 
skin morphogenesis 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 by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
urinary bladder development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
nuclear chromatin IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
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
 
Preferred Names
tumor protein 63
Names
amplified in squamous cell carcinoma
chronic ulcerative stomatitis protein
keratinocyte transcription factor KET
transformation-related protein 63
tumor protein p53-competing protein

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 RefSeqGene

    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 identical proteins and their annotated locations for 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 isoform (2, also known as TAp63beta and TA-beta) 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
    Related
    ENSP00000376253.3, OTTHUMP00000209739, ENST00000392460.7, OTTHUMT00000343874
    Conserved Domains (2) summary
    pfam00870
    Location:163358
    P53; P53 DNA-binding domain
    pfam07710
    Location:392431
    P53_tetramer; P53 tetramerisation motif
  2. NM_001114979.1NP_001108451.1  tumor protein 63 isoform 3

    See identical proteins and their annotated locations for 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 isoform (3, also known as TAp63gamma, TA-gamma, 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
    ENSP00000407144.2, OTTHUMP00000209733, ENST00000418709.6, OTTHUMT00000343866
    Conserved Domains (2) summary
    pfam00870
    Location:163358
    P53; P53 DNA-binding domain
    pfam07710
    Location:392431
    P53_tetramer; P53 tetramerisation motif
  3. NM_001114980.1NP_001108452.1  tumor protein 63 isoform 4

    See identical proteins and their annotated locations for 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 isoform (4, also known as deltaNp63alpha, deltaN-alpha, P51delNalpha, 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
    ENSP00000346614.5, OTTHUMP00000209735, ENST00000354600.9, OTTHUMT00000343868
    Conserved Domains (4) summary
    cd09572
    Location:449513
    SAM_tumor-p63; SAM domain of tumor-p63 proteins
    smart00454
    Location:447512
    SAM; Sterile alpha motif
    pfam00870
    Location:69264
    P53; P53 DNA-binding domain
    pfam07710
    Location:297337
    P53_tetramer; P53 tetramerization motif
  4. NM_001114981.1NP_001108453.1  tumor protein 63 isoform 5

    See identical proteins and their annotated locations for 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 isoform (5, also known as deltaNp63beta, P51delNbeta, and deltaN-beta) 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
    Related
    ENSP00000376256.2, OTTHUMP00000209740, ENST00000392463.6, OTTHUMT00000343875
    Conserved Domains (2) summary
    pfam00870
    Location:69264
    P53; P53 DNA-binding domain
    pfam07710
    Location:297337
    P53_tetramer; P53 tetramerization motif
  5. NM_001114982.1NP_001108454.1  tumor protein 63 isoform 6

    See identical proteins and their annotated locations for 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 isoform (6, also known as deltaNp63gamma, P51delNgamma, and deltaN-gamma) 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
    ENSP00000392488.1, OTTHUMP00000209738, ENST00000437221.5, OTTHUMT00000343873
    Conserved Domains (2) summary
    pfam00870
    Location:69264
    P53; P53 DNA-binding domain
    pfam07710
    Location:297337
    P53_tetramer; P53 tetramerization motif
  6. NM_001329144.1NP_001316073.1  tumor protein 63 isoform 7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks two exons in the 3' coding region, which leads to a frameshift compared to variant 1. The encoded isoform (7, also known as TAp63delta, TA-delta, and P51delta) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC117486, AF116771, BC039815, CB241431, GQ202690
    Consensus CDS
    CCDS87179.1
    UniProtKB/Swiss-Prot
    Q9H3D4
    UniProtKB/TrEMBL
    C9D7D0
    Related
    ENSP00000317510.5, ENST00000320472.9
    Conserved Domains (2) summary
    pfam00870
    Location:163358
    P53; P53 DNA-binding domain
    pfam07710
    Location:392431
    P53_tetramer; P53 tetramerisation motif
  7. NM_001329145.1NP_001316074.1  tumor protein 63 isoform 8

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) has multiple differences compared to variant 1. These differences result in the use of an alternate start codon and introduce a frameshift in the 3' coding region. The encoded isoform (8, also known as deltaN-delta) has shorter and distinct N- and C-termini, compared to isoform 1.
    Source sequence(s)
    AK304127, CB241431, GQ202690
    Consensus CDS
    CCDS87180.1
    UniProtKB/Swiss-Prot
    Q9H3D4
    UniProtKB/TrEMBL
    B7Z8X6, C9D7D0
    Related
    ENSP00000376254.3, ENST00000392461.7
    Conserved Domains (2) summary
    pfam00870
    Location:69264
    P53; P53 DNA-binding domain
    pfam07710
    Location:298337
    P53_tetramer; P53 tetramerisation motif
  8. NM_001329146.1NP_001316075.1  tumor protein 63 isoform 9

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) lacks several 5' exons, and uses an alternate start codon, compared to variant 1. The encoded isoform (9, also known as deltaNp73L) has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AB042841, AC063939, AK304127, CB241431, GQ202690
    Consensus CDS
    CCDS87181.1
    UniProtKB/Swiss-Prot
    Q9H3D4
    UniProtKB/TrEMBL
    B7Z8X6, C9D7D0
    Related
    ENSP00000387839.1, ENST00000449992.5
    Conserved Domains (4) summary
    cd09572
    Location:364428
    SAM_tumor-p63; SAM domain of tumor-p63 proteins
    pfam07710
    Location:213252
    P53_tetramer; P53 tetramerisation motif
    pfam08430
    Location:278355
    Forkhead_N; Forkhead N-terminal region
    cl14608
    Location:8179
    P53; P53 DNA-binding domain
  9. NM_001329148.1NP_001316077.1  tumor protein 63 isoform 10

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (10, also known as p63-delta) is shorter than isoform 1.
    Source sequence(s)
    BC039815, CB241431, GQ202690, KU178436
    Consensus CDS
    CCDS82887.1
    UniProtKB/Swiss-Prot
    Q9H3D4
    UniProtKB/TrEMBL
    A0A0S2Z4N6, C9D7D0
    Related
    ENSP00000394337.2, ENST00000440651.6
    Conserved Domains (4) summary
    cd09572
    Location:539603
    SAM_tumor-p63; SAM domain of tumor-p63 proteins
    pfam00870
    Location:163358
    P53; P53 DNA-binding domain
    pfam07710
    Location:388427
    P53_tetramer; P53 tetramerisation motif
    pfam08430
    Location:453530
    Forkhead_N; Forkhead N-terminal region
  10. NM_001329149.1NP_001316078.1  tumor protein 63 isoform 11

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) has multiple differences compared to variant 1. These differences result in the use of an alternate start codon and introduce a frameshift in the 3' coding region. The encoded isoform (11) is shorter and has distinct N- and C-termini, compared to isoform 1.
    Source sequence(s)
    AK304127, CB241431, GQ202690, KP881230
    UniProtKB/TrEMBL
    A0A141PNN3, B7Z8X6, C9D7D0
    Conserved Domains (2) summary
    pfam00870
    Location:69264
    P53; P53 DNA-binding domain
    pfam07710
    Location:294333
    P53_tetramer; P53 tetramerisation motif
  11. NM_001329150.1NP_001316079.1  tumor protein 63 isoform 12

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12) has multiple differences compared to variant 1. These differences result in the use of an alternate start codon and introduce a frameshift in the 3' coding region. The encoded isoform (12) is shorter and has distinct N- and C-termini, compared to isoform 1.
    Source sequence(s)
    AK304127, CB241431, GQ202690, KP881231
    UniProtKB/TrEMBL
    A0A141PNN4, B7Z8X6, C9D7D0
    Conserved Domains (2) summary
    pfam07710
    Location:208248
    P53_tetramer; P53 tetramerization motif
    cl14608
    Location:8179
    P53; P53 DNA-binding domain
  12. NM_001329964.1NP_001316893.1  tumor protein 63 isoform 13

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region, compared to variant 1. The promoter and 5' terminal exon sequence is from an endogenous retroviral LTR (PMID: 21994760). The resulting isoform (13, also known as GTAp63) is shorter and has a distinct N-terminus, compared to isoform 1. The encoded protein is expressed predominantly in testicular germ cells and eliminates germ cells that have suffered DNA damage.
    Source sequence(s)
    AC063939, AC078809, AC117486, CB241431
    Conserved Domains (5) summary
    cd09572
    Location:541605
    SAM_tumor-p63; SAM domain of tumor-p63 proteins
    smart00454
    Location:539604
    SAM; Sterile alpha motif
    pfam08430
    Location:453532
    Forkhead_N; Forkhead N-terminal region
    pfam00870
    Location:161356
    P53; P53 DNA-binding domain
    pfam07710
    Location:389429
    P53_tetramer; P53 tetramerization motif
  13. NM_003722.4NP_003713.3  tumor protein 63 isoform 1

    See identical proteins and their annotated locations for NP_003713.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the longest transcript and encodes the longest isoform (1, also known as TAp63alpha, TA-alpha, KET, and p51B). This isoform is expressed in female germ cells and acts to protect the germline by eliminating oocytes that have suffered DNA damage.
    Source sequence(s)
    AC063939, BC039815, CB241431
    Consensus CDS
    CCDS3293.1
    UniProtKB/Swiss-Prot
    Q9H3D4
    UniProtKB/TrEMBL
    A0A0S2Z4N5
    Related
    ENSP00000264731.3, OTTHUMP00000209732, ENST00000264731.7, OTTHUMT00000343865
    Conserved Domains (4) summary
    cd09572
    Location:543607
    SAM_tumor-p63; SAM domain of tumor-p63 proteins
    pfam00870
    Location:163358
    P53; P53 DNA-binding domain
    pfam07710
    Location:392431
    P53_tetramer; P53 tetramerisation motif
    pfam08430
    Location:457534
    Forkhead_N; Forkhead N-terminal region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    189596746..189897279
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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