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TP63 tumor protein p63 [ Homo sapiens (human) ]

Gene ID: 8626, updated on 27-Nov-2024

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; AllianceGenome:HGNC:15979
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
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (189596746..189897276)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (192413470..192713713)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (189314535..189615065)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene tumor protein p63 regulated 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:188956266-188957465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20977 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20978 Neighboring gene TPRG1 antisense RNA 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20979 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:189041855-189043054 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20980 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20981 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:189166776-189167320 Neighboring gene uncharacterized LOC105374270 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20982 Neighboring gene TAp63 promoter of tumor protein p63 Neighboring gene DeltaNp63 promoter of tumor protein p63 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14997 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:189526229-189526775 Neighboring gene microRNA 944 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:189652551-189653750 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:189655039-189656238 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:189759008-189759690 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14998 Neighboring gene methylthioadenosine phosphorylase pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 7173 Neighboring gene prolyl 3-hydroxylase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14999 Neighboring gene Sharpr-MPRA regulatory region 10063 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20983 Neighboring gene P3H2 antisense RNA 1

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
ADULT syndrome
MedGen: C1863204 OMIM: 103285 GeneReviews: TP63-Related Disorders
Compare labs
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
MedGen: C0406709 OMIM: 106260 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
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
Premature ovarian failure 21
MedGen: C5830399 OMIM: 620311 GeneReviews: Not available
not available
Rapp-Hodgkin syndrome
MedGen: C1785148 OMIM: 129400 GeneReviews: TP63-Related Disorders
Compare labs
Split hand-foot malformation 4
MedGen: C1854442 OMIM: 605289 GeneReviews: TP63-Related Disorders
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated 2023-05-10)

ClinGen Genome Curation PagePubMed
Triplosensitivity

No evidence available (Last evaluated 2023-05-10)

ClinGen Genome Curation Page

EBI GWAS Catalog

Description
A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and 22q12.2 in Han Chinese.
EBI GWAS Catalog
A genome-wide association study identifies two new susceptibility loci for lung adenocarcinoma in the Japanese population.
EBI GWAS Catalog
A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.
EBI GWAS Catalog
A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer.
EBI GWAS Catalog
Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia.
EBI GWAS Catalog
Genome-wide association study identifies multiple loci associated with bladder cancer risk.
EBI GWAS Catalog
Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.
EBI GWAS Catalog
Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.
EBI GWAS Catalog
Sequence variant on 8q24 confers susceptibility to urinary bladder cancer.
EBI GWAS Catalog
Variation in TP63 is associated with lung adenocarcinoma susceptibility in Japanese and Korean populations.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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
 
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
 
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables WW domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
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 promoter-specific chromatin binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in DNA damage response IDA
Inferred from Direct Assay
more info
PubMed 
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 cellular senescence 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 determination of adult lifespan 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 keratinocyte proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of cellular senescence IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 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 DNA-templated transcription IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of DNA-templated transcription IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of DNA-templated transcription NAS
Non-traceable Author Statement
more info
PubMed 
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 cell cycle G1/S phase transition IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 stem cell proliferation 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 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 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
 
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 stem cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in sympathetic nervous system development IEA
Inferred from Electronic Annotation
more info
 
involved_in transcription by RNA polymerase II 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
PubMed 
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
 

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_001114978.2 → NP_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:163 → 358
    P53; P53 DNA-binding domain
    pfam07710
    Location:392 → 431
    P53_tetramer; P53 tetramerisation motif
  2. NM_001114979.2 → NP_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:177 → 358
    P53; P53 DNA-binding domain
    pfam07710
    Location:392 → 428
    P53_tetramer; P53 tetramerisation motif
  3. NM_001114980.2 → NP_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:449 → 513
    SAM_tumor-p63; SAM domain of tumor-p63 proteins
    smart00454
    Location:447 → 512
    SAM; Sterile alpha motif
    pfam00870
    Location:69 → 264
    P53; P53 DNA-binding domain
    pfam07710
    Location:297 → 337
    P53_tetramer; P53 tetramerization motif
  4. NM_001114981.2 → NP_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:69 → 264
    P53; P53 DNA-binding domain
    pfam07710
    Location:297 → 337
    P53_tetramer; P53 tetramerization motif
  5. NM_001114982.2 → NP_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/TrEMBL
    C9D7C9
    Related
    ENSP00000392488.1, ENST00000437221.5
    Conserved Domains (2) summary
    cd08367
    Location:83 → 264
    P53; P53 DNA-binding domain
    pfam07710
    Location:298 → 334
    P53_tetramer; P53 tetramerisation motif
  6. NM_001329144.2 → NP_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:163 → 358
    P53; P53 DNA-binding domain
    pfam07710
    Location:392 → 431
    P53_tetramer; P53 tetramerisation motif
  7. NM_001329145.2 → NP_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/TrEMBL
    C9D7C9, C9D7D0
    Related
    ENSP00000376254.3, ENST00000392461.7
    Conserved Domains (2) summary
    pfam00870
    Location:69 → 264
    P53; P53 DNA-binding domain
    pfam07710
    Location:298 → 337
    P53_tetramer; P53 tetramerisation motif
  8. NM_001329146.2 → NP_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:364 → 428
    SAM_tumor-p63; SAM domain of tumor-p63 proteins
    pfam07710
    Location:213 → 252
    P53_tetramer; P53 tetramerisation motif
    pfam08430
    Location:278 → 355
    Forkhead_N; Forkhead N-terminal region
    cl14608
    Location:8 → 179
    P53; P53 DNA-binding domain
  9. NM_001329148.2 → NP_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/TrEMBL
    A0A0S2Z4N6
    Related
    ENSP00000394337.2, ENST00000440651.6
    Conserved Domains (4) summary
    cd09572
    Location:539 → 603
    SAM_tumor-p63; SAM domain of tumor-p63 proteins
    pfam00870
    Location:163 → 358
    P53; P53 DNA-binding domain
    pfam07710
    Location:388 → 427
    P53_tetramer; P53 tetramerisation motif
    pfam08430
    Location:453 → 530
    Forkhead_N; Forkhead N-terminal region
  10. NM_001329149.2 → NP_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, C9D7C9
    Conserved Domains (2) summary
    pfam00870
    Location:69 → 264
    P53; P53 DNA-binding domain
    pfam07710
    Location:294 → 333
    P53_tetramer; P53 tetramerisation motif
  11. NM_001329150.2 → NP_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
    Conserved Domains (2) summary
    pfam07710
    Location:208 → 248
    P53_tetramer; P53 tetramerization motif
    cl14608
    Location:8 → 179
    P53; P53 DNA-binding domain
  12. NM_001329964.2 → NP_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:541 → 605
    SAM_tumor-p63; SAM domain of tumor-p63 proteins
    smart00454
    Location:539 → 604
    SAM; Sterile alpha motif
    pfam08430
    Location:453 → 532
    Forkhead_N; Forkhead N-terminal region
    pfam00870
    Location:161 → 356
    P53; P53 DNA-binding domain
    pfam07710
    Location:389 → 429
    P53_tetramer; P53 tetramerization motif
  13. NM_003722.5 → NP_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
    O75080, O75195, O75922, O76078, Q6VEG2, Q6VEG3, Q6VEG4, Q6VFJ1, Q6VFJ2, Q6VFJ3, Q6VH20, Q7LDI3, Q7LDI4, Q7LDI5, Q96KR0, Q9H3D2, Q9H3D3, Q9H3D4, Q9H3P8, Q9NPH7, Q9P1B4, Q9P1B5, Q9P1B6, Q9P1B7, Q9UBV9, Q9UE10, Q9UP26, Q9UP27, Q9UP28, Q9UP74
    UniProtKB/TrEMBL
    A0A0S2Z4N5
    Related
    ENSP00000264731.3, ENST00000264731.8
    Conserved Domains (4) summary
    cd09572
    Location:543 → 607
    SAM_tumor-p63; SAM domain of tumor-p63 proteins
    pfam00870
    Location:163 → 358
    P53; P53 DNA-binding domain
    pfam07710
    Location:392 → 431
    P53_tetramer; P53 tetramerisation motif
    pfam08430
    Location:457 → 534
    Forkhead_N; Forkhead N-terminal region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    192413470..192713713
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)