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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| aladin WD repeat nucleoporin | MIM:605378 | Ensembl:ENSG00000094914 | HGNC:HGNC:13666 | PA24361 | 12q13.13 |
GO terms in AAAS
| 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 |
| CC | IDA | GO:0005813 | centrosome |
| CC | IDA | GO:0005829 | cytosol |
| CC | HDA | GO:0016020 | membrane |
| CC | IDA | GO:0031965 | nuclear membrane |
| BP | TAS | GO:0006406 | mRNA export from nucleus |
| BP | IBA | GO:0006913 | nucleocytoplasmic transport |
| BP | IDA | GO:0006913 | nucleocytoplasmic transport |
| BP | IEA | GO:0007612 | learning |
| BP | IEA | GO:0009566 | fertilization |
| BP | TAS | GO:0016032 | viral process |
| BP | NAS | GO:0046822 | regulation of nucleocytoplasmic transport |
| MF | ND | GO:0003674 | molecular_function |
Gene expression in normal tissue: AAAS
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in AAAS
| 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 |
| reactome | R-HSA-159231 | Transport of Mature mRNA Derived from an Intronless Transcript |
| reactome | R-HSA-159234 | Transport of Mature mRNAs Derived from Intronless Transcripts |
| reactome | R-HSA-159236 | Transport of Mature mRNA derived from an Intron-Containing Transcript |
| reactome | R-HSA-162587 | HIV Life Cycle |
| reactome | R-HSA-162599 | Late Phase of HIV Life Cycle |
| reactome | R-HSA-162906 | HIV Infection |
| reactome | R-HSA-162906 | HIV Infection |
| reactome | R-HSA-162909 | Host Interactions of HIV factors |
| reactome | R-HSA-162909 | Host Interactions of HIV factors |
| reactome | R-HSA-1640170 | Cell Cycle |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-165054 | Rev-mediated nuclear export of HIV RNA |
| reactome | R-HSA-168253 | Host Interactions with Influenza Factors |
| reactome | R-HSA-168254 | Influenza Infection |
| reactome | R-HSA-168255 | Influenza Life Cycle |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-168271 | Transport of Ribonucleoproteins into the Host Nucleus |
| reactome | R-HSA-168273 | Influenza Viral RNA Transcription and Replication |
| reactome | R-HSA-168274 | Export of Viral Ribonucleoproteins from Nucleus |
| reactome | R-HSA-168276 | NS1 Mediated Effects on Host Pathways |
| reactome | R-HSA-168325 | Viral Messenger RNA Synthesis |
| reactome | R-HSA-168333 | NEP/NS2 Interacts with the Cellular Export Machinery |
| reactome | R-HSA-170822 | Regulation of Glucokinase by Glucokinase Regulatory Protein |
| reactome | R-HSA-176033 | Interactions of Vpr with host cellular proteins |
| reactome | R-HSA-177243 | Interactions of Rev with host cellular proteins |
| reactome | R-HSA-177243 | Interactions of Rev with host cellular proteins |
| reactome | R-HSA-180746 | Nuclear import of Rev protein |
| reactome | R-HSA-180910 | Vpr-mediated nuclear import of PICs |
| reactome | R-HSA-191859 | snRNP Assembly |
| reactome | R-HSA-194441 | Metabolism of non-coding RNA |
| reactome | R-HSA-211000 | Gene Silencing by RNA |
| reactome | R-HSA-2262752 | Cellular responses to stress |
| reactome | R-HSA-2980766 | Nuclear Envelope Breakdown |
| reactome | R-HSA-2990846 | SUMOylation |
| reactome | R-HSA-2990846 | SUMOylation |
| reactome | R-HSA-3108214 | SUMOylation of DNA damage response and repair proteins |
| reactome | R-HSA-3108232 | SUMO E3 ligases SUMOylate target proteins |
| reactome | R-HSA-3108232 | SUMO E3 ligases SUMOylate target proteins |
| reactome | R-HSA-3232142 | SUMOylation of ubiquitinylation proteins |
| reactome | R-HSA-3301854 | Nuclear Pore Complex (NPC) Disassembly |
| reactome | R-HSA-3371453 | Regulation of HSF1-mediated heat shock response |
| reactome | R-HSA-3371556 | Cellular response to heat stress |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-4085377 | SUMOylation of SUMOylation proteins |
| reactome | R-HSA-4551638 | SUMOylation of chromatin organization proteins |
| reactome | R-HSA-4570464 | SUMOylation of RNA binding proteins |
| reactome | R-HSA-4615885 | SUMOylation of DNA replication proteins |
| reactome | R-HSA-4615885 | SUMOylation of DNA replication proteins |
| reactome | R-HSA-5578749 | Transcriptional regulation by small RNAs |
| reactome | R-HSA-5663205 | Infectious disease |
| reactome | R-HSA-5663205 | Infectious disease |
| reactome | R-HSA-597592 | Post-translational protein modification |
| reactome | R-HSA-597592 | Post-translational protein modification |
| reactome | R-HSA-6784531 | tRNA processing in the nucleus |
| reactome | R-HSA-68875 | Mitotic Prophase |
| reactome | R-HSA-68886 | M Phase |
| reactome | R-HSA-69278 | Cell Cycle, Mitotic |
| reactome | R-HSA-70171 | Glycolysis |
| reactome | R-HSA-70326 | Glucose metabolism |
| reactome | R-HSA-71387 | Metabolism of carbohydrates |
| reactome | R-HSA-72202 | Transport of Mature Transcript to Cytoplasm |
| reactome | R-HSA-72203 | Processing of Capped Intron-Containing Pre-mRNA |
| reactome | R-HSA-72306 | tRNA processing |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-8953854 | Metabolism of RNA |
| reactome | R-HSA-8953897 | Cellular responses to external stimuli |
| reactome | R-HSA-913531 | Interferon Signaling |
| kegg | hsa03013 | RNA transport - Homo sapiens (human) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in AAAS
CLASSFICATION
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