TP73 tumor protein p73 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TP73provided by HGNC
Official Full Name: tumor protein p73provided by HGNC
Primary source: HGNC:HGNC:12003
See related: Ensembl:ENSG00000078900 MIM:601990; AllianceGenome:HGNC:12003
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: P73; CILD47
Summary: This gene encodes a member of the p53 family of transcription factors involved in cellular responses to stress and development. It maps to a region on chromosome 1p36 that is frequently deleted in neuroblastoma and other tumors, and thought to contain multiple tumor suppressor genes. The demonstration that this gene is monoallelically expressed (likely from the maternal allele), supports the notion that it is a candidate gene for neuroblastoma. Many transcript variants resulting from alternative splicing and/or use of alternate promoters have been found for this gene, but the biological validity and the full-length nature of some variants have not been determined. [provided by RefSeq, Feb 2011]
Expression: Broad expression in skin (RPKM 3.5), prostate (RPKM 1.2) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.32

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (3652516..3736201)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (3162389..3247802)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (3569080..3652765)

Chromosome 1 - NC_000001.11 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
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?

DeltaNp73 and its effector targets promote colorectal peritoneal carcinosis and predict survival.
Title: ΔNp73 and its effector targets promote colorectal peritoneal carcinosis and predict survival.
Dichotomous transactivation domains contribute to growth inhibitory and promotion functions of TAp73.
Title: Dichotomous transactivation domains contribute to growth inhibitory and promotion functions of TAp73.
Lack of Association between TP73 G4C14-A4T14 Polymorphism and Cervical Cancer Risk in Overall and Asian Women: A Meta-Analysis.
Title: Lack of Association between TP73 G4C14-A4T14 Polymorphism and Cervical Cancer Risk in Overall and Asian Women: A Meta-Analysis.
Loss of p73 Expression Contributes to Chronic Obstructive Pulmonary Disease.
Title: Loss of p73 Expression Contributes to Chronic Obstructive Pulmonary Disease.
Clinical landscape of TP73 structural variants in ATL patients.
Title: Clinical landscape of TP73 structural variants in ATL patients.
STAT3 promotes RNA polymerase III-directed transcription by controlling the miR-106a-5p/TP73 axis.
Title: STAT3 promotes RNA polymerase III-directed transcription by controlling the miR-106a-5p/TP73 axis.
Association between TP73 G4C14-A4T14 polymorphism and different cancer types: an updated meta-analysis of 55 case-control studies.
Title: Association between TP73 G4C14-A4T14 polymorphism and different cancer types: an updated meta-analysis of 55 case-control studies.
Lack of association of TP73 rare variants with amyotrophic lateral sclerosis in a Chinese cohort.
Title: Lack of association of TP73 rare variants with amyotrophic lateral sclerosis in a Chinese cohort.
Overexpression of splicing factor poly(rC)-binding protein 1 elicits cycle arrest, apoptosis induction, and p73 splicing in human cervical carcinoma cells.
Title: Overexpression of splicing factor poly(rC)-binding protein 1 elicits cycle arrest, apoptosis induction, and p73 splicing in human cervical carcinoma cells.
Requirement for TP73 and genetic alterations originating from its intragenic super-enhancer in adult T-cell leukemia.
Title: Requirement for TP73 and genetic alterations originating from its intragenic super-enhancer in adult T-cell leukemia.

Submit: New GeneRIF Correction See all GeneRIFs (541)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Ciliary dyskinesia, primary, 47, and lissencephaly MedGen: C5561951 OMIM: 619466 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2012-07-06) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2012-07-06) ClinGen Genome Curation Page

EBI GWAS Catalog

Description
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat induces phosphorylation of p73 at tyrosine reside 99, leading to promote its translocation to the nuclear matrix in neuronal cells	PubMed
	tat	HIV-1 Tat induces accumulation and activation of p73 in neuronal cells	PubMed
	tat	HIV-1 Tat-mediated inhibition of miR-196a leads to upregulation of p73 and c-ABL protein expression in cells	PubMed
	tat	HIV-1 Tat activates the p53 transcription factor pathway leading to the induction of endogenous p53 and p73 in neuronal cells	PubMed
	tat	In the absence of either p53 or p73, Tat fails to induce dendritic retraction or to activate the proapoptotic proteins, such as Bax	PubMed
	tat	Association of tumor protein p73 with HIV-1 Tat prevents the acetylation of Tat on lysine 28 by PCAF, and requires the cysteine-rich domain (amino acids 30 to 40) of Tat, which binds to the N-terminal region (amino acids 1 to 120) of p73	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S1310 (e-PCR)
- UniSTS:149507

D1S468 (e-PCR), detects polymorphism
- UniSTS:6414

D1S468 (e-PCR), detects polymorphism
- UniSTS:76320

SHGC-147179 (e-PCR)
- UniSTS:175661

SHGC-147180 (e-PCR)
- UniSTS:175662

SHGC-74137 (e-PCR)
- UniSTS:76612

NoName (e-PCR)
- UniSTS:482419

MARC_17809-17810:1024936155:1 (e-PCR)
- UniSTS:268408

NoName (e-PCR)
- UniSTS:490413

NoName (e-PCR)
- UniSTS:481743

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IGI Inferred from Genetic Interaction more info	PubMed
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
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 cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
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
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription corepressor 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 intrinsic apoptotic signaling pathway in response to DNA damage	TAS Traceable Author Statement more info	PubMed
involved_in intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IDA Inferred from Direct Assay more info	PubMed
involved_in kidney development	IEA Inferred from Electronic Annotation more info
involved_in mismatch repair	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within negative regulation of cardiac muscle cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of neuron differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
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 MAPK cascade	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of lung ciliated cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of oligodendrocyte differentiation	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 protein tetramerization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_negative_effect regulation of cell cycle	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
located_in cell junction	IDA Inferred from Direct Assay more info
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in cytosol	TAS Traceable Author Statement more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay 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

General protein information

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Preferred Names: tumor protein p73

Names: p53-like transcription factor; p53-related 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_017035.2 RefSeqGene

Range

4952..88637

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001126240.3 → NP_001119712.1 tumor protein p73 isoform b

See identical proteins and their annotated locations for NP_001119712.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b, also known as deltaN p73 alpha) has a shorter and distinct N-terminus compared to isoform a.

Source sequence(s)

AB055065, AI094238, AL136528

Consensus CDS

CCDS44049.1

UniProtKB/Swiss-Prot

O15350

Related

ENSP00000367537.4, ENST00000378288.8

Conserved Domains (4) summary

cd09571
Location:438 → 502

SAM_tumor-p73; SAM domain of tumor-p73 proteins

smart00454
Location:442 → 501

SAM; Sterile alpha motif

pfam00870
Location:64 → 260

P53; P53 DNA-binding domain

pfam07710
Location:296 → 335

P53_tetramer; P53 tetramerization motif
NM_001126241.3 → NP_001119713.1 tumor protein p73 isoform c

See identical proteins and their annotated locations for NP_001119713.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence and lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (c, also known as deltaN p73 beta) has a shorter and distinct N-terminus and a shorter and distinct C-terminus compared to isoform a.

Source sequence(s)

AB055066, AI094238, AL136528

Consensus CDS

CCDS44050.1

UniProtKB/Swiss-Prot

O15350

Related

ENSP00000367534.1, ENST00000378285.5

Conserved Domains (2) summary

cd08367
Location:78 → 257

P53; P53 DNA-binding domain

pfam07710
Location:297 → 333

P53_tetramer; P53 tetramerisation motif
NM_001126242.3 → NP_001119714.1 tumor protein p73 isoform d

See identical proteins and their annotated locations for NP_001119714.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence and lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (d, also known as deltaN p73 gamma) has a shorter and distinct N-terminus and a shorter and distinct C-terminus compared to isoform a.

Source sequence(s)

AI094238, AL136528, AY040829

Consensus CDS

CCDS44051.1

UniProtKB/TrEMBL

A0A0C4DFW9

Related

ENSP00000367529.1, ENST00000378280.5

Conserved Domains (2) summary

pfam00870
Location:64 → 260

P53; P53 DNA-binding domain

pfam07710
Location:296 → 335

P53_tetramer; P53 tetramerization motif
NM_001204184.2 → NP_001191113.1 tumor protein p73 isoform h

See identical proteins and their annotated locations for NP_001191113.1

Status: REVIEWED

Description

Transcript Variant: This variant (8) lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (h, also known as TA p73 beta) has a shorter and distinct C-terminus compared to isoform a.

Source sequence(s)

AB055066, AI094238, AL136528, Y11416

Consensus CDS

CCDS55566.1

UniProtKB/Swiss-Prot

O15350

Related

ENSP00000346423.4, ENST00000354437.8

Conserved Domains (2) summary

cd08367
Location:127 → 306

P53; P53 DNA-binding domain

pfam07710
Location:346 → 382

P53_tetramer; P53 tetramerisation motif
NM_001204185.2 → NP_001191114.1 tumor protein p73 isoform i

Status: REVIEWED

Description

Transcript Variant: This variant (9) lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (i, also known as TA p73 gamma) has a shorter and distinct C-terminus compared to isoform a.

Source sequence(s)

AI094238, AL136528, AY040829, Y11416

UniProtKB/Swiss-Prot

O15350

Conserved Domains (2) summary

pfam00870
Location:113 → 309

P53; P53 DNA-binding domain

pfam07710
Location:345 → 384

P53_tetramer; P53 tetramerization motif
NM_001204186.2 → NP_001191115.1 tumor protein p73 isoform j

Status: REVIEWED

Description

Transcript Variant: This variant (10) lacks three alternate coding exons compared to variant 1, that causes a frameshift. The resulting isoform (j, also known as TA p73 delta) has a shorter and distinct C-terminus compared to isoform a.

Source sequence(s)

AI094238, AL136528, Y11416

Consensus CDS

CCDS59965.1

UniProtKB/Swiss-Prot

O15350

Related

ENSP00000475143.1, ENST00000604074.5

Conserved Domains (2) summary

pfam00870
Location:113 → 309

P53; P53 DNA-binding domain

pfam07710
Location:346 → 384

P53_tetramer; P53 tetramerisation motif
NM_001204187.2 → NP_001191116.1 tumor protein p73 isoform k

Status: REVIEWED

Description

Transcript Variant: This variant (11) lacks two alternate coding exons compared to variant 1, one that causes a frameshift and the other that corrects the frameshift. The resulting isoform (k, also known as TA p73 epsilon) has a shorter and distinct internal segment compared to isoform a.

Source sequence(s)

AI094238, AL136528, Y11416

Consensus CDS

CCDS55567.1

UniProtKB/Swiss-Prot

O15350

Related

ENSP00000474626.1, ENST00000603362.6

Conserved Domains (3) summary

pfam00870
Location:113 → 309

P53; P53 DNA-binding domain

pfam07710
Location:345 → 384

P53_tetramer; P53 tetramerization motif

cl15755
Location:445 → 470

SAM_superfamily; SAM (Sterile alpha motif )
NM_001204188.2 → NP_001191117.1 tumor protein p73 isoform l

Status: REVIEWED

Description

Transcript Variant: This variant (12) lacks two alternate coding exons compared to variant 1. The resulting isoform (l, also known as TA p73 zeta) lacks an alternate internal segment compared to isoform a.

Source sequence(s)

AI094238, AL136528, Y11416

Consensus CDS

CCDS55568.1

UniProtKB/Swiss-Prot

O15350

Related

ENSP00000474322.1, ENST00000604479.6

Conserved Domains (4) summary

smart00454
Location:400 → 454

SAM; Sterile alpha motif

pfam00870
Location:113 → 309

P53; P53 DNA-binding domain

pfam07710
Location:345 → 384

P53_tetramer; P53 tetramerization motif

cl15755
Location:400 → 455

SAM_superfamily; SAM (Sterile alpha motif )
NM_001204189.2 → NP_001191118.1 tumor protein p73 isoform e

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence and lacks three alternate coding exons compared to variant 1, that causes a frameshift. The resulting isoform (3, also known as deltaN p73 delta) has a shorter and distinct N-terminus and a shorter and distinct C-terminus compared to isoform a.

Source sequence(s)

AB055065, AI094238, AL136528

UniProtKB/Swiss-Prot

O15350

Conserved Domains (2) summary

pfam00870
Location:64 → 260

P53; P53 DNA-binding domain

pfam07710
Location:296 → 335

P53_tetramer; P53 tetramerization motif
NM_001204190.2 → NP_001191119.1 tumor protein p73 isoform f

See identical proteins and their annotated locations for NP_001191119.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence and lacks two alternate coding exons compared to variant 1, one that causes a frameshift and the other that corrects the frameshift. The resulting isoform (f, also known as deltaN p73 epsilon) has a shorter and distinct N-terminus and a shorter and distinct internal segment compared to isoform a.

Source sequence(s)

AB055065, AI094238, AL136528

UniProtKB/Swiss-Prot

O15350

Conserved Domains (3) summary

pfam00870
Location:64 → 260

P53; P53 DNA-binding domain

pfam07710
Location:296 → 335

P53_tetramer; P53 tetramerization motif

cl15755
Location:396 → 421

SAM_superfamily; SAM (Sterile alpha motif )
NM_001204191.2 → NP_001191120.1 tumor protein p73 isoform g

Status: REVIEWED

Description

Transcript Variant: This variant (7) differs in the 5' UTR and coding sequence and lacks two alternate coding exons compared to variant 1. The resulting isoform (g, also known as deltaN p73 zeta) has a shorter and distinct N-terminus and lacks an alternate internal segment compared to isoform a.

Source sequence(s)

AB055065, AI094238, AL136528

UniProtKB/Swiss-Prot

O15350

Conserved Domains (4) summary

smart00454
Location:351 → 405

SAM; Sterile alpha motif

pfam00870
Location:64 → 260

P53; P53 DNA-binding domain

pfam07710
Location:296 → 335

P53_tetramer; P53 tetramerization motif

cl15755
Location:351 → 406

SAM_superfamily; SAM (Sterile alpha motif )
NM_001204192.2 → NP_001191121.1 tumor protein p73 isoform m

See identical proteins and their annotated locations for NP_001191121.1

Status: REVIEWED

Description

Transcript Variant: This variant (13) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (m) is shorter at the N-terminus compared to isoform a.

Source sequence(s)

AI094238, AK302118, AK310432, AL136528

Consensus CDS

CCDS55569.1

UniProtKB/Swiss-Prot

O15350

Related

ENSP00000367539.4, ENST00000378290.4

Conserved Domains (3) summary

cd08367
Location:56 → 235

P53; P53 DNA-binding domain

cd09571
Location:416 → 480

SAM_tumor-p73; SAM domain of tumor-p73 proteins

pfam07710
Location:275 → 311

P53_tetramer; P53 tetramerisation motif
NM_005427.4 → NP_005418.1 tumor protein p73 isoform a

See identical proteins and their annotated locations for NP_005418.1

Status: REVIEWED

Description

Transcript Variant: This variant (1), encodes isoform a, also known as TA p73 alpha.

Source sequence(s)

AI094238, AL136528, Y11416

Consensus CDS

CCDS49.1

UniProtKB/Swiss-Prot

B7Z7J4, B7Z8Z1, B7Z9C1, C9J521, O15350, O15351, Q17RN8, Q5TBV5, Q5TBV6, Q8NHW9, Q8TDY5, Q8TDY6, Q9NTK8

Related

ENSP00000367545.4, ENST00000378295.9

Conserved Domains (4) summary

cd09571
Location:487 → 551

SAM_tumor-p73; SAM domain of tumor-p73 proteins

smart00454
Location:491 → 550

SAM; Sterile alpha motif

pfam00870
Location:113 → 309

P53; P53 DNA-binding domain

pfam07710
Location:345 → 384

P53_tetramer; P53 tetramerization motif