Human Gene TP53AIP1 (ENST00000458238.6) from GENCODE V44
  Description: Homo sapiens tumor protein p53 regulated apoptosis inducing protein 1 (TP53AIP1), transcript variant 2, mRNA. (from RefSeq NM_001195195)
RefSeq Summary (NM_001195195): 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].
Gencode Transcript: ENST00000458238.6
Gencode Gene: ENSG00000120471.16
Transcript (Including UTRs)
   Position: hg38 chr11:128,934,731-128,942,927 Size: 8,197 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg38 chr11:128,935,037-128,937,818 Size: 2,782 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:128,934,731-128,942,927)mRNA (may differ from genome)Protein (86 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TPIP1_HUMAN
DESCRIPTION: RecName: Full=p53-regulated apoptosis-inducing protein 1; Short=p53AIP1;
FUNCTION: May play an important role in mediating p53/TP53- dependent apoptosis.
SUBCELLULAR LOCATION: Mitochondrion.
TISSUE SPECIFICITY: Only found to be expressed in thymus.
INDUCTION: By p53/TP53.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • C093973 2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one
  • C120227 2-(2-chloro-4-iodophenylamino)-N-cyclopropylmethoxy-3,4-difluorobenzamide
  • D005472 Fluorouracil
  • C006632 arsenic trioxide
  • C014347 decitabine
  • C406082 monomethylarsonous acid

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 9.14 RPKM in Skin - Not Sun Exposed (Suprapubic)
Total median expression: 41.35 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -76.40210-0.364 Picture PostScript Text
3' UTR -98.40306-0.322 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  ModBase Predicted Comparative 3D Structure on Q9HCN2
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function

Biological Process:
GO:0006915 apoptotic process
GO:0042981 regulation of apoptotic process

Cellular Component:
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix


-  Descriptions from all associated GenBank mRNAs
  AB045831 - Homo sapiens mRNA for p53AIP1beta, complete cds.
AB045830 - Homo sapiens mRNA for p53AIP1, complete cds.
AB045832 - Homo sapiens mRNA for p53AIP1gamma, complete cds.
AY302135 - Homo sapiens p53AIP1 mRNA, complete cds; alternatively spliced.
AB527772 - Synthetic construct DNA, clone: pF1KB5829, Homo sapiens TP53AIP1 gene for tumor protein p53 regulated apoptosis inducing protein 1, without stop codon, in Flexi system.
AK310612 - Homo sapiens cDNA, FLJ17654.
JD544967 - Sequence 525991 from Patent EP1572962.
BC069399 - Homo sapiens tumor protein p53 regulated apoptosis inducing protein 1, mRNA (cDNA clone MGC:96921 IMAGE:7262130), complete cds.
BC069426 - Homo sapiens tumor protein p53 regulated apoptosis inducing protein 1, mRNA (cDNA clone MGC:96933 IMAGE:7262142), complete cds.
AK314286 - Homo sapiens cDNA, FLJ95042, highly similar to Homo sapiens p53-regulated apoptosis-inducing protein 1 (P53AIP1), mRNA.
HQ448419 - Synthetic construct Homo sapiens clone IMAGE:100071847; CCSB013811_01 p53-regulated apoptosis-inducing protein 1 (P53AIP1) gene, encodes complete protein.
KJ903044 - Synthetic construct Homo sapiens clone ccsbBroadEn_12438 TP53AIP1 gene, encodes complete protein.
EF693749 - Homo sapiens p53-regulated apoptosis-inducing protein 1 (P53AIP1) mRNA, partial cds, alternatively spliced.
JD158388 - Sequence 139412 from Patent EP1572962.
JD186711 - Sequence 167735 from Patent EP1572962.
JD322522 - Sequence 303546 from Patent EP1572962.
JD261198 - Sequence 242222 from Patent EP1572962.
JD476413 - Sequence 457437 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04115 - p53 signaling pathway

Reactome (by CSHL, EBI, and GO)

Protein Q9HCN2 (Reactome details) participates in the following event(s):

R-HSA-6803204 TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
R-HSA-5633008 TP53 Regulates Transcription of Cell Death Genes
R-HSA-3700989 Transcriptional Regulation by TP53
R-HSA-212436 Generic Transcription Pathway
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000458238.1, ENST00000458238.2, ENST00000458238.3, ENST00000458238.4, ENST00000458238.5, NM_001195195, Q6NT40, Q7Z6F7, Q9HCN0, Q9HCN1, Q9HCN2, TPIP1_HUMAN, uc021qsc.1, uc021qsc.2
UCSC ID: ENST00000458238.6
RefSeq Accession: NM_001195195
Protein: Q9HCN2 (aka TPIP1_HUMAN)
CCDS: CCDS55797.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.