AAAS
Summary: The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex and is anchored there by NDC1. Defects in this gene are a cause of achalasia-addisonianism-alacrima syndrome (AAAS), also called triple-A syndrome or Allgrove syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:605378 Ensembl IDEnsembl:ENSG00000094914 HGNC IDHGNC:HGNC:13666 PHARMGKB IDPA24361 Map Location12q13.13 | |||||
GO terms in AAAS
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Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | HDA | GO:0005634 | nucleus |
| CC | TAS | GO:0005635 | nuclear envelope |
| CC | IBA | GO:0005643 | nuclear pore |
| CC | IDA | GO:0005643 | nuclear pore |
| CC | IDA | GO:0005643 | nuclear pore |
| CC | IDA | GO:0005654 | nucleoplasm |
Gene expression in normal tissue: AAAS
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in AAAS
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Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1169408 | ISG15 antiviral mechanism |
| reactome | R-HSA-1169410 | Antiviral mechanism by IFN-stimulated genes |
| reactome | R-HSA-1280215 | Cytokine Signaling in Immune system |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-159227 | Transport of the SLBP independent Mature mRNA |
| reactome | R-HSA-159230 | Transport of the SLBP Dependant Mature mRNA |
Gene-Drug: Aster Plot
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Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD409 | Saracatinib | 1 |
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Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in AAAS
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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