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] See more...

Aliases for TP53AIP1 Gene

Aliases for TP53AIP1 Gene

  • Tumor Protein P53 Regulated Apoptosis Inducing Protein 1 2 3 5
  • P53AIP1 2 3 4
  • P53-Regulated Apoptosis-Inducing Protein 1 3 4
  • TP53AIP1 5

External Ids for TP53AIP1 Gene

Previous GeneCards Identifiers for TP53AIP1 Gene

  • GC11M128313
  • GC11M128805
  • GC11M124756

Summaries for TP53AIP1 Gene

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 Bartter Syndrome, Type 2, Antenatal and Brain Cancer. Among its related pathways are TP53 Regulates Transcription of Cell Death Genes and DNA Damage Response.

UniProtKB/Swiss-Prot Summary for TP53AIP1 Gene

  • May play an important role in mediating p53/TP53-dependent apoptosis.

Gene Wiki entry for TP53AIP1 Gene

Additional gene information for TP53AIP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TP53AIP1 Gene

Genomics for TP53AIP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TP53AIP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J128942 Promoter 0.3 EPDnew 600.7 +1.4 1358 0.1 lnc-ARHGAP32-3 TP53AIP1 RF00017-1062 KCNJ5
GH11J128944 Enhancer 0.2 Ensembl 600.7 +0.8 832 0.4 lnc-ARHGAP32-3 TP53AIP1 KCNJ5
GH11J128905 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 12.2 +39.4 39403 3.7 CTCF FOXA1 ZIC2 PATZ1 EZH2 ZNF341 ZBTB44 KLF9 SP2 DPF2 C11orf45 TP53AIP1 KCNJ5 MN309310
GH11J128890 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 11.1 +51.2 51236 5.6 PRDM10 REST KDM1A PRDM1 ZIC2 ZSCAN4 SP1 EZH2 ZNF600 ZNF341 KCNJ5 lnc-C11orf45-2 TP53AIP1 C11orf45
GH11J128964 Enhancer 0.8 Ensembl ENCODE 12 -20.7 -20668 2.2 JUND ZIC2 PKNOX1 SCRT2 DPF2 RELB JUNB IRF4 BATF ZNF18 RNU6-876P KCNJ5 TP53AIP1 C11orf45 ARHGAP32 MN309311 piR-35674-087
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TP53AIP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TP53AIP1

Top Transcription factor binding sites by QIAGEN in the TP53AIP1 gene promoter:
  • C/EBPbeta
  • FOXD3
  • HSF1 (long)
  • HSF1short
  • Pax-2
  • Pax-2a
  • Pax-6
  • POU2F1
  • POU2F1a
  • YY1

Genomic Locations for TP53AIP1 Gene

Genomic Locations for TP53AIP1 Gene
chr11:128,934,731-128,944,233
(GRCh38/hg38)
Size:
9,503 bases
Orientation:
Minus strand
chr11:128,804,626-128,813,294
(GRCh37/hg19)
Size:
8,669 bases
Orientation:
Minus strand

Genomic View for TP53AIP1 Gene

Genes around TP53AIP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TP53AIP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TP53AIP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TP53AIP1 Gene

Proteins for TP53AIP1 Gene

  • Protein details for TP53AIP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HCN2-TPIP1_HUMAN
    Recommended name:
    p53-regulated apoptosis-inducing protein 1
    Protein Accession:
    Q9HCN2
    Secondary Accessions:
    • Q6NT40
    • Q7Z6F7
    • Q9HCN0
    • Q9HCN1

    Protein attributes for TP53AIP1 Gene

    Size:
    124 amino acids
    Molecular mass:
    12935 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • [Isoform 3]: Dubious isoform. Could be a cloning artifact.

    Alternative splice isoforms for TP53AIP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TP53AIP1 Gene

Post-translational modifications for TP53AIP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TP53AIP1 Gene

Domains & Families for TP53AIP1 Gene

Gene Families for TP53AIP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TP53AIP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TP53AIP1 Gene

GenScript: Design optimal peptide antigens:
  • p53-regulated apoptosis-inducing protein 1 (A7LAQ2_HUMAN)
  • p53-regulated apoptosis-inducing protein 1 (TPIP1_HUMAN)
genes like me logo Genes that share domains with TP53AIP1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TP53AIP1 Gene

Function for TP53AIP1 Gene

Molecular function for TP53AIP1 Gene

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

Phenotypes From GWAS Catalog for TP53AIP1 Gene

Gene Ontology (GO) - Molecular Function for TP53AIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with TP53AIP1: view
genes like me logo Genes that share phenotypes with TP53AIP1: view

Animal Model Products

CRISPR Products

miRNA for TP53AIP1 Gene

miRTarBase miRNAs that target TP53AIP1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TP53AIP1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TP53AIP1 Gene

Localization for TP53AIP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TP53AIP1 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TP53AIP1 gene
Compartment Confidence
mitochondrion 5
nucleus 3
extracellular 2
cytosol 2
plasma membrane 1
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for TP53AIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion TAS 11030628
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with TP53AIP1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TP53AIP1 Gene

Pathways & Interactions for TP53AIP1 Gene

genes like me logo Genes that share pathways with TP53AIP1: view

Pathways by source for TP53AIP1 Gene

2 KEGG pathways for TP53AIP1 Gene
3 Qiagen pathways for TP53AIP1 Gene
  • Cellular Apoptosis Pathway
  • Mitochondrial Apoptosis
  • p53 Mediated Apoptosis

Gene Ontology (GO) - Biological Process for TP53AIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process TAS 11030628
GO:0042981 regulation of apoptotic process TAS --
genes like me logo Genes that share ontologies with TP53AIP1: view

No data available for SIGNOR curated interactions for TP53AIP1 Gene

Drugs & Compounds for TP53AIP1 Gene

(4) Drugs for TP53AIP1 Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cyclophosphamide Approved, Investigational Pharma Nitrogen mustard alkylating agent and prodrug. 3670
Epirubicin Approved Pharma 483
Fluorouracil Approved Pharma RNA processing inhibitor and thymidylate synthase inhibitor 2338
genes like me logo Genes that share compounds with TP53AIP1: view

Transcripts for TP53AIP1 Gene

mRNA/cDNA for TP53AIP1 Gene

4 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TP53AIP1

Alternative Splicing Database (ASD) splice patterns (SP) for TP53AIP1 Gene

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

Relevant External Links for TP53AIP1 Gene

GeneLoc Exon Structure for
TP53AIP1

Expression for TP53AIP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TP53AIP1 Gene

mRNA differential expression in normal tissues according to GTEx for TP53AIP1 Gene

This gene is overexpressed in Esophagus - Mucosa (x12.1), Skin - Not Sun Exposed (Suprapubic) (x9.7), Skin - Sun Exposed (Lower leg) (x8.4), and Vagina (x6.8).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TP53AIP1

SOURCE GeneReport for Unigene cluster for TP53AIP1 Gene:

Hs.160953

mRNA Expression by UniProt/SwissProt for TP53AIP1 Gene:

Q9HCN2-TPIP1_HUMAN
Tissue specificity: Only found to be expressed in thymus.

Evidence on tissue expression from TISSUES for TP53AIP1 Gene

  • Skin(2.2)
genes like me logo Genes that share expression patterns with TP53AIP1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for TP53AIP1 Gene

Orthologs for TP53AIP1 Gene

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

Orthologs for TP53AIP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TP53AIP1 30 31
  • 98.66 (n)
OneToOne
Species where no ortholog for TP53AIP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Mouse (Mus musculus)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for TP53AIP1 Gene

ENSEMBL:
Gene Tree for TP53AIP1 (if available)
TreeFam:
Gene Tree for TP53AIP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TP53AIP1: view image

Paralogs for TP53AIP1 Gene

(1) SIMAP similar genes for TP53AIP1 Gene using alignment to 1 proteins:

  • TPIP1_HUMAN
genes like me logo Genes that share paralogs with TP53AIP1: view

No data available for Paralogs for TP53AIP1 Gene

Variants for TP53AIP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TP53AIP1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs35942033 - p.Ala7Val

Additional dbSNP identifiers (rs#s) for TP53AIP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for TP53AIP1 Gene

Variant ID Type Subtype PubMed ID
dgv84n21 CNV loss 19592680
esv2097474 CNV deletion 18987734
nsv468892 CNV loss 19166990
nsv556563 CNV loss 21841781

Variation tolerance for TP53AIP1 Gene

Residual Variation Intolerance Score: 86.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.29; 25.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TP53AIP1 Gene

Human Gene Mutation Database (HGMD)
TP53AIP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TP53AIP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TP53AIP1 Gene

Disorders for TP53AIP1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TP53AIP1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
bartter syndrome, type 2, antenatal
  • abs2
brain cancer
  • adult brain tumor
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TP53AIP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with TP53AIP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TP53AIP1 Gene

Publications for TP53AIP1 Gene

  1. p53AIP1, a potential mediator of p53-dependent apoptosis, and its regulation by Ser-46-phosphorylated p53. (PMID: 11030628) Oda K … Taya Y (Cell 2000) 2 3 4 23
  2. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 41
  3. Roscovitine-induced up-regulation of p53AIP1 protein precedes the onset of apoptosis in human MCF-7 breast cancer cells. (PMID: 15657359) Wesierska-Gadek J … Horky M (Molecular cancer therapeutics 2005) 3 23
  4. p53AIP1 regulates the mitochondrial apoptotic pathway. (PMID: 12019168) Matsuda K … Arakawa H (Cancer research 2002) 2 3
  5. Extracellular vesicle‑delivered miR‑505‑5p, as a diagnostic biomarker of early lung adenocarcinoma, inhibits cell apoptosis by targeting TP53AIP1. (PMID: 30864684) Fang H … An G (International journal of oncology 2019) 3

Products for TP53AIP1 Gene

  • Signalway Proteins for TP53AIP1

Sources for TP53AIP1 Gene