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

    Gene ID: 63970, updated on 2-Nov-2024

    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_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (128934731..128942871, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (128969657..128977797, complement)
    RS_2024_09 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 Sharpr-MPRA regulatory region 11395 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:128740730-128741492 Neighboring gene NANOG hESC enhancer GRCh37_chr11:128741942-128742537 Neighboring gene potassium inwardly rectifying channel subfamily J member 1 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:128771525-128772283 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4065 Neighboring gene KCNJ5 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:128796283-128797283 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5745 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5746 Neighboring gene potassium inwardly rectifying channel subfamily J member 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128808070-128808570 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128808571-128809071 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128810609-128811109 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128840383-128840884 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128840885-128841384 Neighboring gene Rho GTPase activating protein 32 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:128868598-128869797 Neighboring gene RNA, U6 small nuclear 876, pseudogene Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:128931012-128932211 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:129012637-129013836 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 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. p53AIP1, a potential mediator of p53-dependent apoptosis, and its regulation by Ser-46-phosphorylated p53. Oda K, et al. Cell, 2000 Sep 15. PMID 11030628
    2. Truncating mutations of TP53AIP1 gene predispose to cutaneous melanoma. Benfodda M, et al. Genes Chromosomes Cancer, 2018 Jun. PMID 29359367
    3. [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
    4. Mutant p53 expression enhances drug resistance in a hepatocellular carcinoma cell line. Chan KT, et al. Cancer Chemother Pharmacol, 2004 Jun. PMID 15004724
    5. Roscovitine-induced up-regulation of p53AIP1 protein precedes the onset of apoptosis in human MCF-7 breast cancer cells. Wesierska-Gadek J, et al. Mol Cancer Ther, 2005 Jan. PMID 15657359

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TP53AIP1 induce autophagy via the AKT/mTOR signaling pathway in the breast cancer cells.
      Title: TP53AIP1 induce autophagy via the AKT/mTOR signaling pathway in the breast cancer cells.
    2. 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.
    3. results show that constitutional truncating TP53AIP1 mutations predispose to CMM in the French population
      Title: Truncating mutations of TP53AIP1 gene predispose to cutaneous melanoma.
    4. 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].
    5. 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.
    6. 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.
    7. 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.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    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/TrEMBL
      B2RAP8
      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
      Q6NT40, Q7Z6F7, Q9HCN0, 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_2024_08

    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
      Q6NT40, Q7Z6F7, Q9HCN0, 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

      UniProtKB/Swiss-Prot
      Q6NT40, Q7Z6F7, Q9HCN0, Q9HCN1, Q9HCN2

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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