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    TP63 tumor protein p63 [ Homo sapiens (human) ]

    Gene ID: 8626, updated on 23-Nov-2021

    Summary

    Official Symbol
    TP63provided by HGNC
    Official Full Name
    tumor protein p63provided by HGNC
    Primary source
    HGNC:HGNC:15979
    See related
    Ensembl:ENSG00000073282 MIM:603273
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TP63 in Genome Data Viewer
    Location:
    3q28
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (189596746..189897276)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (189314535..189615065)

    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 Sharpr-MPRA regulatory region 7173

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and 22q12.2 in Han Chinese.
    GeneReviews: Not available
    A genome-wide association study identifies two new susceptibility loci for lung adenocarcinoma in the Japanese population.
    GeneReviews: Not available
    A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.
    GeneReviews: Not available
    A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer.
    GeneReviews: Not available
    ADULT syndrome
    MedGen: C1863204 OMIM: 103285 GeneReviews: TP63-Related Disorders
    Compare labs
    Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
    MedGen: C1858562 OMIM: 604292 GeneReviews: TP63-Related Disorders
    Compare labs
    Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia.
    GeneReviews: Not available
    Genome-wide association study identifies multiple loci associated with bladder cancer risk.
    GeneReviews: Not available
    Hay-Wells syndrome of ectodermal dysplasia
    MedGen: C0406709 OMIM: 106260 GeneReviews: TP63-Related Disorders
    Compare labs
    Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.
    GeneReviews: Not available
    Limb-mammary syndrome
    MedGen: C1863753 OMIM: 603543 GeneReviews: TP63-Related Disorders
    Compare labs
    Orofacial cleft 8
    MedGen: C1851878 OMIM: 618149 GeneReviews: TP63-Related Disorders
    Compare labs
    Rapp-Hodgkin ectodermal dysplasia syndrome
    MedGen: C1785148 OMIM: 129400 GeneReviews: TP63-Related Disorders
    Compare labs
    Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.
    GeneReviews: Not available
    Sequence variant on 8q24 confers susceptibility to urinary bladder cancer.
    GeneReviews: Not available
    Split-hand/foot malformation 4
    MedGen: C1854442 OMIM: 605289 GeneReviews: TP63-Related Disorders
    Compare labs
    Variation in TP63 is associated with lung adenocarcinoma susceptibility in Japanese and Korean populations.
    GeneReviews: Not available

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA-binding transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
     
    enables MDM2/MDM4 family protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables WW domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables damaged DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables p53 binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cell aging IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cloacal septation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cranial skeletal system development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ectoderm and mesoderm interaction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic forelimb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic hindlimb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in epidermal cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in epithelial cell development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in establishment of planar polarity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in establishment of skin barrier ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in female genitalia morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hair follicle morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in keratinocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in multicellular organism aging IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of intracellular estrogen receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of keratinocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of mesoderm development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in odontogenesis of dentin-containing tooth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in polarized epithelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of Notch signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of apoptotic signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of fibroblast apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of keratinocyte proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of osteoblast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of somatic stem cell population maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription, DNA-templated NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in post-anal tail morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in prostatic bud formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein tetramerization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in proximal/distal pattern formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cysteine-type endopeptidase activity involved in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of epidermal cell division ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in skeletal system development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skin morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in squamous basal epithelial stem cell differentiation involved in prostate gland acinus development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sympathetic nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of protein-containing complex IEA
    Inferred from Electronic Annotation
    more info
     
    located_in rough endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_007550.3 RefSeqGene

      Range
      39644..305531
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_428

    mRNA and Protein(s)

    1. NM_001114978.2NP_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, ENST00000392460.7
      Conserved Domains (2) summary
      pfam00870
      Location:163358
      P53; P53 DNA-binding domain
      pfam07710
      Location:392431
      P53_tetramer; P53 tetramerisation motif
    2. NM_001114979.2NP_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, ENST00000418709.6
      Conserved Domains (2) summary
      cd08367
      Location:177358
      P53; P53 DNA-binding domain
      pfam07710
      Location:392428
      P53_tetramer; P53 tetramerisation motif
    3. NM_001114980.2NP_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, ENST00000354600.10
      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_001114981.2NP_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, ENST00000392463.6
      Conserved Domains (2) summary
      pfam00870
      Location:69264
      P53; P53 DNA-binding domain
      pfam07710
      Location:297337
      P53_tetramer; P53 tetramerization motif
    5. NM_001114982.2NP_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, ENST00000437221.5
      Conserved Domains (2) summary
      cd08367
      Location:83264
      P53; P53 DNA-binding domain
      pfam07710
      Location:298334
      P53_tetramer; P53 tetramerisation motif
    6. NM_001329144.2NP_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)
      AC078809, AC117486, AF116771, BC039815, 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_001329145.2NP_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)
      AC063939, AK304127, 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_001329146.2NP_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, 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_001329148.2NP_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)
      AC078809, BC039815, 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_001329149.2NP_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)
      AC063939, AK304127, 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_001329150.2NP_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)
      AC063939, AK304127, 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_001329964.2NP_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
      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_003722.5NP_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, AC078809, BC039815
      Consensus CDS
      CCDS3293.1
      UniProtKB/Swiss-Prot
      Q9H3D4
      UniProtKB/TrEMBL
      A0A0S2Z4N5
      Related
      ENSP00000264731.3, ENST00000264731.8
      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 Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      189596746..189897276
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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