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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TP53AIP1 Gene

protein-coding   GIFtS: 52
GCID: GC11M128805

Tumor Protein P53 Regulated Apoptosis Inducing Protein 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Tumor Protein P53 Regulated Apoptosis Inducing Protein 11 2
P53AIP12 5
P53-Regulated Apoptosis-Inducing Protein 12
p53AIP13

External Ids:    HGNC: 299841   Entrez Gene: 639702   Ensembl: ENSG000001204717   OMIM: 6054265   UniProtKB: Q9HCN23   

Export aliases for TP53AIP1 gene to outside databases

Previous GC identifers: GC11M128313 GC11M124756


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TP53AIP1 Gene:
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)

GeneCards Summary for TP53AIP1 Gene: 
TP53AIP1 (tumor protein p53 regulated apoptosis inducing protein 1) is a protein-coding gene. Diseases associated with TP53AIP1 include oral leukoplakia, and brain cancer, and among its related super-pathways are DNA damage response. GO annotations related to this gene include molecular_function.

UniProtKB/Swiss-Prot: TPIP1_HUMAN, Q9HCN2
Function: May play an important role in mediating p53/TP53-dependent apoptosis

Gene Wiki entry for TP53AIP1 (P53AIP1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.2  NT_033899.8  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TP53AIP1 gene promoter:
         C/EBPbeta   POU2F1   POU2F1a   Pax-6   HSF1 (long)   HSF1short   FOXD3   Pax-2   Pax-2a   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTP53AIP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for TP53AIP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TP53AIP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q24   Ensembl cytogenetic band:  11q24.3   HGNC cytogenetic band: 11q24.3

TP53AIP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TP53AIP1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M128805:  view genomic region     (about GC identifiers)

Start:
128,804,626 bp from pter      End:
128,813,294 bp from pter
Size:
8,669 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TPIP1_HUMAN, Q9HCN2 (See protein sequence)
Recommended Name: p53-regulated apoptosis-inducing protein 1  
Size: 124 amino acids; 12935 Da
Subcellular location: Mitochondrion
Secondary accessions: Q6NT40 Q7Z6F7 Q9HCN0 Q9HCN1
Alternative splicing: 4 isoforms:  Q9HCN2-1   Q9HCN2-2   Q9HCN2-3   Q9HCN2-4   (Dubious isoform. Could be a cloning artifact)

Explore the universe of human proteins at neXtProt for TP53AIP1: NX_Q9HCN2

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9HCN2

  • TP53AIP1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --
    REFSEQ proteins (4 alternative transcripts): 
    NP_001182123.1  NP_001182124.1  NP_001238893.1  NP_071395.2  

    ENSEMBL proteins: 
     ENSP00000390694   ENSP00000432743   ENSP00000432908   ENSP00000435175   ENSP00000473353  

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    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion TAS11030628

    TP53AIP1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ProtoNet protein and cluster: Q9HCN2


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TPIP1_HUMAN, Q9HCN2
    Function: May play an important role in mediating p53/TP53-dependent apoptosis
    Induction: By p53/TP53

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    TP53AIP1 for ontologies           About GeneDecksing


    Animal Models:
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TP53AIP1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1p53 signaling pathway
    p53 signaling pathway0.41
    DNA damage response0.41
    2p53 pathway
    p53 pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for TP53AIP1
        DNA damage response
    p53 pathway



    1         Kegg Pathway  (Kegg details for TP53AIP1):
        p53 signaling pathway


    TP53AIP1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TP53AIP1

    1 Interacting protein for TP53AIP1 (Q9HCN23) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BCL2P104153I2D: score=2 
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process TAS11030628

    TP53AIP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TP53AIP1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TP53AIP1 (TPIP1)

    1 Novoseek inferred chemical compound relationship for TP53AIP1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    roscovitine 84.6 1 17384267 (1)

    Search CenterWatch for drugs/clinical trials and news about TP53AIP1 / TPIP1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TP53AIP1 gene (4 alternative transcripts): 
    NM_001195194.1  NM_001195195.1  NM_001251964.1  NM_022112.2  

    Unigene Cluster for TP53AIP1:

    Tumor protein p53 regulated apoptosis inducing protein 1
    Hs.160953  [show with all ESTs]
    Unigene Representative Sequence: NM_001251964
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000458238(uc021qsc.1) ENST00000531399(uc021qsd.1) ENST00000525390(uc001qey.3 uc001qex.3)
    ENST00000530777 ENST00000527504(uc009zcm.2) ENST00000602346
    miRNA
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    Inhib. RNA
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    Additional mRNA sequence: 

    AB045830.1 AB045831.1 AB045832.1 AK310612.1 AK314286.1 AY302135.1 BC069399.1 BC069426.1 
    EF693749.1 

    4 DOTS entries:

    DT.70104873  DT.95319810  DT.75126983  DT.92419343 

    23 AceView cDNA sequences:

    AB045832 AB045830 NM_022112 AB045831 AV732015 BF927093 BX431573 BF738212 
    BG678978 AI566771 BX281723 AY302135 AL703609 AI383639 BF511020 BX460289 
    AV750921 BG682489 BC069426 BC069399 BE931336 AI872153 AV730428 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for TP53AIP1    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4a · 4b · 4c ^ 5
    SP1:                                      -     -                                 
    SP2:                                      -     -           -     -     -         
    SP3:                                      -     -           -                     
    SP4:                                                                              
    SP5:                    -                                                         


    ECgene alternative splicing isoforms for TP53AIP1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TP53AIP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCAGGACAA
    TP53AIP1 Expression
    About this image


    Genevestigator expression for TP53AIP1

    SOURCE GeneReport for Unigene cluster: Hs.160953

    UniProtKB/Swiss-Prot: TPIP1_HUMAN, Q9HCN2
    Tissue specificity: Only found to be expressed in thymus

        SABiosciences Expression via Pathway-Focused PCR Array including TP53AIP1: 
              p53 Signaling Pathway in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of human and chimp.

    Orthologs for TP53AIP1 gene from 1 species (see representative species )    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chimpanzee
    (Pan troglodytes)
    Mammalia TP53AIP16
    tumor protein p53 regulated apoptosis inducing pro...
    98(a)
    1 ↔ 1
    11(126955532-126963555)


    ENSEMBL Gene Tree for TP53AIP1 (if available)
    TreeFam Gene Tree for TP53AIP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TP53AIP1 gene
    1 SIMAP similar gene for TP53AIP1 using alignment to 1 protein entry:     TPIP1_HUMAN:
    P53AIP1

    TP53AIP1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/273 SNPs in TP53AIP1 are shown (see all 273)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2006960701,2
    Cuntested1128675434(+) ATCCAA/GACGAG 7 S F mis1 ut310--------
    rs346224001,2
    C--124762754(+) GGACA-/CTCTGCA 3 -- int10--------
    rs1442437491,2
    C--128673133(+) CTCCAC/TTACAC 1 -- int10--------
    rs1922463881,2
    --128673140(+) ACACAC/TGTGAT 1 -- int10--------
    rs1461065951,2
    --128673408(+) ACCTGG/TACCTC 1 -- int10--------
    rs1399146981,2
    --128673429(+) ACCACA/GGGCTT 1 -- int10--------
    rs1847696681,2
    --128673485(+) GCAAGC/TGATCC 1 -- int10--------
    rs1880227191,2
    --128673486(+) CAAGCA/GATCCC 1 -- int10--------
    rs1434071901,2
    --128673521(+) TACTCC/TGCAGG 1 -- int10--------
    rs1913332951,2
    --128673522(+) ACTCCA/GCAGGG 1 -- int10--------

    HapMap Linkage Disequilibrium report for TP53AIP1 (128804626 - 128813294 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for TP53AIP1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2097474CNV Deletion18987734
    dgv84n21CNV Loss19592680
    nsv468892CNV Loss19166990


    Human Gene Mutation Database (HGMD): TP53AIP1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605426    OMIM disorders: --

    11 diseases for TP53AIP1:    About MalaCards
    oral leukoplakia    brain cancer    leukoplakia    gastritis
    lung cancer    gastric cancer    breast cancer    hepatocellular carcinoma
    prostate cancer    prostatitis    leukemia


    TP53AIP1 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for TP53AIP1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    breast cancer 28.1 1 15657359 (1)
    tumors 9.27 4 17611651 (1), 17079449 (1), 15657359 (1)
    cancer 8.67 1 17079449 (1)

    Genetic Association Database (GAD): TP53AIP1
    Human Genome Epidemiology (HuGE) Navigator: TP53AIP1 (2 documents)

    Export disorders for TP53AIP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TP53AIP1 gene, integrated from 9 sources (see all 28):
    (articles sorted by number of sources associating them with TP53AIP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. p53AIP1, a potential mediator of p53-dependent apoptosis, and its regulation by Ser-46-phosphorylated p53. (PubMed id 11030628)1, 2, 3, 9 Oda K.... Taya Y. (2000)
    2. Investigation of genetic susceptibility factors for h uman longevity - A targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (2010)
    3. p53AIP1 regulates the mitochondrial apoptotic pathway. (PubMed id 12019168)1, 3 Matsuda K....Arakawa H. (2002)
    4. Roscovitine-induced up-regulation of p53AIP1 protein precedes the onset of apoptosis in human MCF-7 breast cancer cells. (PubMed id 15657359)1, 9 Wesierska-Gadek J....Horky M. (2005)
    5. Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. (PubMed id 23319000)1 Luykx J.J....Ophoff R.A. (2013)
    6. Apak competes with p53 for direct binding to intron 1 of p53AIP1 to regulate apoptosis. (PubMed id 22334068)1 Yuan L....Zhang L. (2012)
    7. Prostate cancer risk is not altered by TP53AIP1 germli ne mutations in a German case-control series. (PubMed id 22457820)1 Luedeke M....Maier C. (2012)
    8. Combination of p53AIP1 and survivin expression is a p owerful prognostic marker in non-small cell lung cancer. (PubMed id 19228369)1 Yamashita S....Kawahara K. (2009)
    9. Difference of p53AIP1 mRNA expression in gastric mucosa between patients with gastric cancer and chronic gastritis infected with Helicobacter pylori. (PubMed id 18277906)1 Sawaya M....Fukuda S. (2008)
    10. p53AIP1 expression can be a prognostic marker in non-small cell lung cancer. (PubMed id 17851056)1 Yamashita S.I....Kawahara K. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 63970 HGNC: 29984 AceView: P53AIP1 Ensembl:ENSG00000120471 euGenes: HUgn63970
    ECgene: TP53AIP1 Kegg: 63970 H-InvDB: TP53AIP1

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    NameDescription
    PharmGKB entry for TP53AIP1 Pharmacogenomics, SNPs, Pathways

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    Patent Information for TP53AIP1 gene:
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