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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]
TP53AIP1 (Tumor Protein P53 Regulated Apoptosis Inducing Protein 1) is a Protein Coding gene. Diseases associated with TP53AIP1 include Bartter Syndrome, Type 2, Antenatal. Among its related pathways are TP53 Regulates Transcription of Cell Death Genes and p53 pathway.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003674 | molecular_function | ND | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | TAS | 11030628 |
GO:0005759 | mitochondrial matrix | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | DNA Damage Response | ||
2 | Apoptotic Pathways in Synovial Fibroblasts |
Cellular Apoptosis Pathway
.85
Mitochondrial Apoptosis
.85
|
p53 Mediated Apoptosis
.84
|
3 | Gene Expression |
.48
|
|
4 | TP53 Regulates Transcription of Cell Death Genes | ||
5 | Apoptosis Modulation and Signaling |
.31
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006915 | apoptotic process | TAS | 11030628 |
GO:0042981 | regulation of apoptotic process | TAS | -- |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | · | 2c | · | 2d | · | 2e | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||
SP5: | - |
This gene was present in the common ancestor of human and chimp.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TP53AIP1 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs35942033 | - |
p.Ala7Val |
Disorder | Aliases | PubMed IDs |
---|---|---|
bartter syndrome, type 2, antenatal |
|
|