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    TP63 tumor protein p63 [ Homo sapiens (human) ]

    Gene ID: 8626, updated on 20-Aug-2016
    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. 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]
    Orthologs
    Location:
    3q28
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 3 NC_000003.12 (189597115..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 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
    MedGen: C0406709 OMIM: 106260 GeneReviews: TP63-Related Disorders
    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
    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...
    • 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 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 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 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

    Function Evidence Code Pubs
    DNA binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    WW domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    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
     
    transcription factor activity, sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    transcription factor activity, transcription factor binding IEA
    Inferred from Electronic Annotation
    more info
     
    transcription regulatory region DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific 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 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 organism aging IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    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 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 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 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 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 neuron apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    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
     
    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
     
    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 from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    urinary bladder development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    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
     
    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
     
    transcription factor complex IBA
    Inferred from Biological aspect of Ancestor
    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, OTTHUMP00000209739, ENST00000392460, OTTHUMT00000343874
      Conserved Domains (2) summary
      pfam00870
      Location:163358
      P53; P53 DNA-binding domain
      pfam07710
      Location:391431
      P53_tetramer; P53 tetramerization 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, OTTHUMP00000209733, ENST00000418709, OTTHUMT00000343866
      Conserved Domains (2) summary
      pfam00870
      Location:163358
      P53; P53 DNA-binding domain
      pfam07710
      Location:391431
      P53_tetramer; P53 tetramerization 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, OTTHUMP00000209735, ENST00000354600, 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, OTTHUMP00000209740, ENST00000392463, OTTHUMT00000343875
      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 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, 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_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
    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
      Conserved Domains (2) summary
      pfam00870
      Location:69264
      P53; P53 DNA-binding domain
      pfam07710
      Location:297337
      P53_tetramer; P53 tetramerization 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
      Conserved Domains (5) summary
      cd09572
      Location:364428
      SAM_tumor-p63; SAM domain of tumor-p63 proteins
      smart00454
      Location:362427
      SAM; Sterile alpha motif
      pfam08430
      Location:276355
      Forkhead_N; Forkhead N-terminal region
      pfam07710
      Location:212252
      P53_tetramer; P53 tetramerization motif
      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
    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
      Conserved Domains (2) summary
      pfam00870
      Location:69264
      P53; P53 DNA-binding domain
      pfam07710
      Location:293333
      P53_tetramer; P53 tetramerization 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
      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 protein encoded is expressed predominantly in testicular germ cells and eliminates germ cells that have suffered DNA damage.
      Source sequence(s)
      AC063939, AC078809, AC117486, CB241431
    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, 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 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

      Range
      189597115..189897279
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011513252.2XP_011511554.1  

      Conserved Domains (5) summary
      cd08367
      Location:175356
      P53; P53 DNA-binding domain
      cd09572
      Location:541605
      SAM_tumor-p63; SAM domain of tumor-p63 proteins
      smart00454
      Location:539604
      SAM; Sterile alpha motif
      pfam07710
      Location:395430
      P53_tetramer; P53 tetramerization motif
      pfam08430
      Location:453532
      Fork_head_N; Forkhead N-terminal region
    2. XM_011513251.2XP_011511553.1  

      Conserved Domains (5) summary
      cd08367
      Location:176357
      P53; P53 DNA-binding domain
      cd09572
      Location:542606
      SAM_tumor-p63; SAM domain of tumor-p63 proteins
      smart00454
      Location:540605
      SAM; Sterile alpha motif
      pfam07710
      Location:396431
      P53_tetramer; P53 tetramerization motif
      pfam08430
      Location:454533
      Fork_head_N; Forkhead N-terminal region
    3. XM_005247844.4XP_005247901.1  

      See identical proteins and their annotated locations for 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
      pfam08430
      Location:438517
      Fork_head_N; Forkhead N-terminal region
    4. XM_005247843.3XP_005247900.1  

      UniProtKB/TrEMBL
      A0A0S2Z4N6
      Related
      ENSP00000394337, OTTHUMP00000209737, ENST00000440651, OTTHUMT00000343872
      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
      pfam08430
      Location:451530
      Fork_head_N; Forkhead N-terminal region
    5. XM_017007387.1XP_016862876.1  

      Related
      ENSP00000389485, OTTHUMP00000209742, ENST00000456148, OTTHUMT00000343877

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

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