TP63 tumor protein p63 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TP63 transcriptionally regulates SLC7A5 to suppress ferroptosis in head and neck squamous cell carcinoma.
Title: TP63 transcriptionally regulates SLC7A5 to suppress ferroptosis in head and neck squamous cell carcinoma.
Prognostic Impact of Notch1 Intracellular Domain, P63, and c-MYC in Lacrimal Gland Adenoid Cystic Carcinoma.
Title: Prognostic Impact of Notch1 Intracellular Domain, P63, and c-MYC in Lacrimal Gland Adenoid Cystic Carcinoma.
Epigenetic regulation of p63 blocks squamous-to-neuroendocrine transdifferentiation in esophageal development and malignancy.
Title: Epigenetic regulation of p63 blocks squamous-to-neuroendocrine transdifferentiation in esophageal development and malignancy.
The TDP-43/TP63 Positive Feedback Circuit Promotes Esophageal Squamous Cell Carcinoma Progression.
Title: The TDP-43/TP63 Positive Feedback Circuit Promotes Esophageal Squamous Cell Carcinoma Progression.
Interaction between MED12 and DeltaNp63 activates basal identity in pancreatic ductal adenocarcinoma.
Title: Interaction between MED12 and ΔNp63 activates basal identity in pancreatic ductal adenocarcinoma.
DeltaNp63-restricted viral mimicry response impedes cancer cell viability and remodels tumor microenvironment in esophageal squamous cell carcinoma.
Title: ΔNp63-restricted viral mimicry response impedes cancer cell viability and remodels tumor microenvironment in esophageal squamous cell carcinoma.
Distinct Effects of Respiratory Viral Infection Models on miR-149-5p, IL-6 and p63 Expression in BEAS-2B and A549 Epithelial Cells.
Title: Distinct Effects of Respiratory Viral Infection Models on miR-149-5p, IL-6 and p63 Expression in BEAS-2B and A549 Epithelial Cells.
Identification of HTRA4 as a Transcriptional Target of p63 in Trophoblast.
Title: Identification of HTRA4 as a Transcriptional Target of p63 in Trophoblast.
TP63 truncating mutation causes increased cell apoptosis and premature ovarian insufficiency by enhanced transcriptional activation of CLCA2.
Title: TP63 truncating mutation causes increased cell apoptosis and premature ovarian insufficiency by enhanced transcriptional activation of CLCA2.
Reciprocal inhibition between TP63 and STAT1 regulates anti-tumor immune response through interferon-gamma signaling in squamous cancer.
Title: Reciprocal inhibition between TP63 and STAT1 regulates anti-tumor immune response through interferon-γ signaling in squamous cancer.

Submit: New GeneRIF Correction See all GeneRIFs (845)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
ADULT syndrome MedGen: C1863204 OMIM: 103285 GeneReviews: TP63-Related Disorders	not available
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome MedGen: C0406709 OMIM: 106260 GeneReviews: TP63-Related Disorders	not available
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 MedGen: C1858562 OMIM: 604292 GeneReviews: TP63-Related Disorders	not available
Limb-mammary syndrome MedGen: C1863753 OMIM: 603543 GeneReviews: TP63-Related Disorders	not available
Orofacial cleft 8 MedGen: C1851878 OMIM: 618149 GeneReviews: TP63-Related Disorders	not available
Premature ovarian failure 21 MedGen: C5830399 OMIM: 620311 GeneReviews: Not available	not available
Rapp-Hodgkin syndrome MedGen: C1785148 OMIM: 129400 GeneReviews: TP63-Related Disorders	not available
Split hand-foot malformation 4 MedGen: C1854442 OMIM: 605289 GeneReviews: TP63-Related Disorders	not available

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

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-105974 (e-PCR)
- UniSTS:169526

WI-11062 (e-PCR)
- UniSTS:31046

D3S3422 (e-PCR)
- UniSTS:79189

PMC25851P1 (e-PCR)
- UniSTS:272288

D3S2398 (e-PCR), detects polymorphism
- UniSTS:13472

PMC25851P2 (e-PCR)
- UniSTS:272289

Trp63 (e-PCR), detects polymorphism
- UniSTS:499117

SHGC-146972 (e-PCR)
- UniSTS:175536

D3S2481 (e-PCR)
- UniSTS:48331

Trp63 (e-PCR), detects polymorphism
- UniSTS:526811

G33179 (e-PCR)
- UniSTS:6363

Trp63 (e-PCR), detects polymorphism
- UniSTS:526812

G59523 (e-PCR)
- UniSTS:136686

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

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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)

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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

NG_007550.3 RefSeqGene

Range

39644..305531

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_428

mRNA and Protein(s)

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
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
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
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
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
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
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
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
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
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
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
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
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