• Gene id: 63970

Gene Summary

• Gene Symbol: TP53AIP1   Gene   UCSC   Ensembl
• Aliases: P53AIP1
• Gene name: tumor protein p53 regulated apoptosis inducing protein 1
• Alternate names: p53-regulated apoptosis-inducing protein 1,
• Gene location: 11q24.3 (128944232: 128934731)     Exons: 7     NC_000011.10
• Gene summary(Entrez): 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. Alternative
• OMIM: 617692

Protein Summary

• Protein general information: Q9HCN2  
  • Name: p53 regulated apoptosis inducing protein 1 (p53AIP1)
  • Length: 124  
  • Mass: 12935
  • Tissue specificity: Only found to be expressed in thymus. {ECO
• Sequence:

  MGSSSEASFRSAQASCSGARRQGLGRGDQNLSVMPPNGRAQTHTPGWVSDPLVLGAQVHGGCRGIEALSVSSGSW
  SSATVWILTGLGLGLSRPFLPGATVLRDRPLGSAFELSYDQKKAPLRLQ

• Structural information:
  • Interpro: IPR029284  
  • STRING: ENSP00000432743
• Other Databases: GeneCards:  TP53AIP1  Malacards:  TP53AIP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006915	apoptotic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0042981	regulation of apoptotic process	TAS	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0006915	apoptotic process	TAS	biological process
GO:0005739	mitochondrion	TAS	cellular component
GO:0003674	molecular_function	ND	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04210	Apoptosis
hsa04115	p53 signaling pathway

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq