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TP53AIP1 tumor protein p53 regulated apoptosis inducing protein 1 [ Homo sapiens (human) ]

Gene ID: 63970, updated on 21-Mar-2023

Summary

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Official Symbol
TP53AIP1provided by HGNC
Official Full Name
tumor protein p53 regulated apoptosis inducing protein 1provided by HGNC
Primary source
HGNC:HGNC:29984
See related
Ensembl:ENSG00000120471 MIM:605426; AllianceGenome:HGNC:29984
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
P53AIP1
Summary
This gene is specifically expressed in the thymus, and encodes a protein that is localized to the mitochondrion. The expression of this gene is inducible by p53, and it is thought to play an important role in mediating p53-dependent apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]
Expression
Biased expression in skin (RPKM 6.8) and esophagus (RPKM 1.6) See more
Orthologs
all
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Genomic context

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See TP53AIP1 in Genome Data Viewer
Location:
11q24.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (128934731..128942871, complement)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (128969657..128977797, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (128804626..128812766, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984409 Neighboring gene potassium inwardly rectifying channel subfamily J member 1 Neighboring gene KCNJ5 antisense RNA 1 Neighboring gene potassium inwardly rectifying channel subfamily J member 5 Neighboring gene Rho GTPase activating protein 32 Neighboring gene RNA, U6 small nuclear 876, pseudogene Neighboring gene RNA, U6 small nuclear 874, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Truncating mutations of TP53AIP1 gene predispose to cutaneous melanoma. Benfodda M, et al. Genes Chromosomes Cancer, 2018 Jun. PMID 29359367
  2. [Effect of p53-regulated apoptosis-inducing protein 1 transfection on the biological characteristics of PC-3M human prostate cancer cells]. Lin X, et al. Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi, 2014 Aug. PMID 25108434
  3. Prostate cancer risk is not altered by TP53AIP1 germline mutations in a German case-control series. Luedeke M, et al. PLoS One, 2012. PMID 22457820, Free PMC Article
  4. Combination of p53AIP1 and survivin expression is a powerful prognostic marker in non-small cell lung cancer. Yamashita S, et al. J Exp Clin Cancer Res, 2009 Feb 19. PMID 19228369, Free PMC Article
  5. p53AIP1 expression can be a prognostic marker in non-small cell lung cancer. Yamashita SI, et al. Clin Oncol (R Coll Radiol), 2008 Mar. PMID 17851056

See all (24) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Bioinformatic analysis identified TP53AIP1 as a direct target for miR-505.
    Title: Extracellular vesicle‑delivered miR‑505‑5p, as a diagnostic biomarker of early lung adenocarcinoma, inhibits cell apoptosis by targeting TP53AIP1.
  2. results show that constitutional truncating TP53AIP1 mutations predispose to CMM in the French population
    Title: Truncating mutations of TP53AIP1 gene predispose to cutaneous melanoma.
  3. Data indicate that p53-regulated apoptosis-inducing protein 1 (p53AIP1) inhibits the proliferation of PC-3M cells, arrests cell cycle at S/G2-M phase, decreases the abilities of invasion and migration and promotes cell apoptosis.
    Title: [Effect of p53-regulated apoptosis-inducing protein 1 transfection on the biological characteristics of PC-3M human prostate cancer cells].
  4. These studies indicate the critical role of p53AIP1 under DNA damaging stresses for cell fate determination in rheumatoid arthritis-fibroblast-like synovioctes containing the p53R248Q mutation.
    Title: Anti-apoptotic roles for the mutant p53R248Q through suppression of p53-regulated apoptosis-inducing protein 1 in the RA-derived fibroblast-like synoviocyte cell line MH7A.
  5. Apak competes with p53 for binding to inhibit p53AIP1 expression.
    Title: Apak competes with p53 for direct binding to intron 1 of p53AIP1 to regulate apoptosis.
  6. large sample size of the combined cohort rejects a high-risk effect greater than 2.2 and indicates a limited role of TP53AIP1 in prostate cancer predisposition
    Title: Prostate cancer risk is not altered by TP53AIP1 germline mutations in a German case-control series.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
  8. Data suggest that the combination of p53AIP1 and survivin gene expression may be a powerful tool to stratify subgroups with better or worse prognosis from the variable non-small cell lung cancer population.
    Title: Combination of p53AIP1 and survivin expression is a powerful prognostic marker in non-small cell lung cancer.
  9. Insufficient expression of p53AIP1 may play a role in gastric carcinogenesis in patients infected with H. pylori infection.
    Title: Insights in gastric carcinogenesis from Helicobacter pylori infection.
  10. Insufficient expression of p53AIP1 may play a role in gastric carcinogenesis in patients infected with H. pylori infection.
    Title: Difference of p53AIP1 mRNA expression in gastric mucosa between patients with gastric cancer and chronic gastritis infected with Helicobacter pylori.
Submit: New GeneRIF Correction See all GeneRIFs (15)

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

EBI GWAS Catalog

Description
Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in apoptotic process TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
located_in mitochondrion TAS
Traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
p53-regulated apoptosis-inducing protein 1

NCBI Reference Sequences (RefSeq)

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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_030401.1 RefSeqGene

    Range
    5529..13030
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001195194.1 → NP_001182123.1  p53-regulated apoptosis-inducing protein 1 isoform c

    See identical proteins and their annotated locations for NP_001182123.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a. The 5' UTR of this variant is incomplete due to the lack of 5'-complete transcripts supporting this exon combination, and the presence of alternate splicing choices in the 5' UTR.
    Source sequence(s)
    AB045830, AY302135, DB129822
    Consensus CDS
    CCDS55798.1
    UniProtKB/Swiss-Prot
    Q9HCN2
    Related
    ENSP00000432908.1, ENST00000530777.5
    Conserved Domains (1) summary
    pfam15338
    Location:2 → 120
    TPIP1; p53-regulated apoptosis-inducing protein 1

  2. NM_001195195.2 → NP_001182124.1  p53-regulated apoptosis-inducing protein 1 isoform b

    See identical proteins and their annotated locations for NP_001182124.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as beta) uses an alternate terminal exon and thereby differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (b) has a distinct and shorter C-terminus, compared to isoform a.
    Source sequence(s)
    AB045831, AI872153, AP000920
    Consensus CDS
    CCDS55797.1
    UniProtKB/Swiss-Prot
    Q9HCN2
    Related
    ENSP00000390694.2, ENST00000458238.6
    Conserved Domains (1) summary
    pfam15338
    Location:2 → 84
    TPIP1; p53-regulated apoptosis-inducing protein 1

  3. NM_001251964.2 → NP_001238893.1  p53-regulated apoptosis-inducing protein 1 isoform d

    See identical proteins and their annotated locations for NP_001238893.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4, also known as gamma) differs at the 3' end compared to variant 1, and encodes a shorter isoform (d) with a distinct C-terminus compared to isoform a.
    Source sequence(s)
    AB045832, AI924030, AP000920
    Consensus CDS
    CCDS58195.1
    UniProtKB/Swiss-Prot
    Q9HCN2
    Related
    ENSP00000473353.1, ENST00000602346.5
    Conserved Domains (1) summary
    pfam15338
    Location:2 → 49
    TPIP1; p53-regulated apoptosis-inducing protein 1

  4. NM_022112.3 → NP_071395.2  p53-regulated apoptosis-inducing protein 1 isoform a

    See identical proteins and their annotated locations for NP_071395.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as alpha) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AB045830
    Consensus CDS
    CCDS8480.2
    UniProtKB/Swiss-Prot
    Q9HCN1, Q9HCN2
    Related
    ENSP00000432743.1, ENST00000531399.6
    Conserved Domains (1) summary
    pfam15338
    Location:2 → 124
    TPIP1; p53-regulated apoptosis-inducing protein 1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    128934731..128942871 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018117.2 → XP_016873606.1  p53-regulated apoptosis-inducing protein 1 isoform X5

  2. XM_017018114.2 → XP_016873603.1  p53-regulated apoptosis-inducing protein 1 isoform X2

  3. XM_017018113.2 → XP_016873602.1  p53-regulated apoptosis-inducing protein 1 isoform X1

  4. XM_017018116.2 → XP_016873605.1  p53-regulated apoptosis-inducing protein 1 isoform X4

    UniProtKB/Swiss-Prot
    Q9HCN1, Q9HCN2
    Conserved Domains (1) summary
    pfam15338
    Location:2 → 124
    TPIP1; p53-regulated apoptosis-inducing protein 1

  5. XM_047427398.1 → XP_047283354.1  p53-regulated apoptosis-inducing protein 1 isoform X6

  6. XM_017018115.3 → XP_016873604.1  p53-regulated apoptosis-inducing protein 1 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    128969657..128977797 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054369620.1 → XP_054225595.1  p53-regulated apoptosis-inducing protein 1 isoform X5

  2. XM_054369617.1 → XP_054225592.1  p53-regulated apoptosis-inducing protein 1 isoform X2

  3. XM_054369616.1 → XP_054225591.1  p53-regulated apoptosis-inducing protein 1 isoform X1

  4. XM_054369619.1 → XP_054225594.1  p53-regulated apoptosis-inducing protein 1 isoform X4

  5. XM_054369621.1 → XP_054225596.1  p53-regulated apoptosis-inducing protein 1 isoform X6

  6. XM_054369618.1 → XP_054225593.1  p53-regulated apoptosis-inducing protein 1 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9HCN2.1 GenPept UniProtKB/Swiss-Prot:Q9HCN2

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