GSAP
Summary: Accumulation of neurotoxic amyloid-beta is a major hallmark of Alzheimer disease (AD; MIM 104300). Formation of amyloid-beta is catalyzed by gamma-secretase (see PSEN1; MIM 104311), a protease with numerous substrates. PION, or GSAP, selectively increases amyloid-beta production through a mechanism involving its interaction with both gamma-secretase and its substrate, the amyloid-beta precursor protein (APP; MIM 104760) C-terminal fragment (APP-CTF) (He et al., 2010 [PubMed 20811458]).[supplied by OMIM, Nov 2010].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:613552 Ensembl IDEnsembl:ENSG00000186088 HGNC IDHGNC:HGNC:28042 PHARMGKB IDPA164724500 Map Location7q11.23 | |||||
GO terms in GSAP
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Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IDA | GO:0030162 | regulation of proteolysis |
| BP | IDA | GO:1902004 | positive regulation of amyloid-beta formation |
| CC | IDA | GO:0005802 | trans-Golgi network |
| MF | IDA | GO:0001540 | amyloid-beta binding |
| MF | IPI | GO:0005515 | protein binding |
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Gene expression in normal tissue: GSAP
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in GSAP
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Database | Pathway ID | Pathway Des. |
|---|---|---|
| No matching records found | ||
Gene-Drug: Aster Plot
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Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 1 |
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Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in GSAP
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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