Version 5.4
| Mus musculus Gene: Aaas | |||||||||||||
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| Summary | |||||||||||||
| InnateDB Gene | IDBG-188479.6 | ||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||
| Gene Symbol | Aaas | ||||||||||||
| Gene Name | achalasia, adrenocortical insufficiency, alacrimia | ||||||||||||
| Synonyms | |||||||||||||
| Species | Mus musculus | ||||||||||||
| Ensembl Gene | ENSMUSG00000036678 | ||||||||||||
| Encoded Proteins |
achalasia, adrenocortical insufficiency, alacrimia
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| Protein Structure | |||||||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||
| Entrez Gene | |||||||||||||
| Summary |
This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000094914:
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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| Gene Information | |||||||||||||
| Type | Protein coding | ||||||||||||
| Genomic Location | Chromosome 15:102338247-102350759 | ||||||||||||
| Strand | Reverse strand | ||||||||||||
| Band | F3 | ||||||||||||
| Transcripts |
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| Interactions | |||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
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| Gene Ontology | |||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||
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Species
Homo sapiens
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Pathways | |||||||||||||
| NETPATH | |||||||||||||
| REACTOME |
Nuclear Envelope Breakdown pathway
Cell Cycle, Mitotic pathway
Disease pathway
Nuclear Pore Complex (NPC) Disassembly pathway
SLC-mediated transmembrane transport pathway
Regulation of Glucokinase by Glucokinase Regulatory Protein pathway
Cell Cycle pathway
Metabolism pathway
M Phase pathway
Transcriptional regulation by small RNAs pathway
Glucose transport pathway
Transmembrane transport of small molecules pathway
Hexose transport pathway
Glycogen storage diseases pathway
Gene Expression pathway
Regulatory RNA pathways pathway
Mitotic Prophase pathway
Myoclonic epilepsy of Lafora pathway
Metabolism of carbohydrates pathway
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| KEGG |
RNA transport pathway
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| INOH | |||||||||||||
| PID NCI | |||||||||||||
| Pathway Predictions based on Human Orthology Data | |||||||||||||
| NETPATH | |||||||||||||
| REACTOME |
ISG15 antiviral mechanism pathway
Regulation of Glucokinase by Glucokinase Regulatory Protein pathway
Glucose transport pathway
Hexose transport pathway
Nuclear import of Rev protein pathway
Vpr-mediated nuclear import of PICs pathway
Rev-mediated nuclear export of HIV RNA pathway
Viral Messenger RNA Synthesis pathway
Late Phase of HIV Life Cycle pathway
Transmembrane transport of small molecules pathway
Influenza Infection pathway
Interactions of Vpr with host cellular proteins pathway
Myoclonic epilepsy of Lafora pathway
Antiviral mechanism by IFN-stimulated genes pathway
Cytokine Signaling in Immune system pathway
Metabolism of carbohydrates pathway
Transcriptional regulation by small RNAs pathway
Nuclear Pore Complex (NPC) Disassembly pathway
Influenza Viral RNA Transcription and Replication pathway
Interferon Signaling pathway
Cell Cycle pathway
Immune System pathway
M Phase pathway
HIV Life Cycle pathway
Mitotic Prophase pathway
Cell Cycle, Mitotic pathway
HIV Infection pathway
Influenza Life Cycle pathway
Metabolism pathway
Host Interactions of HIV factors pathway
SLC-mediated transmembrane transport pathway
Interactions of Rev with host cellular proteins pathway
Gene Expression pathway
Nuclear Envelope Breakdown pathway
Disease pathway
Glycogen storage diseases pathway
Regulatory RNA pathways pathway
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| KEGG |
RNA transport pathway
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| INOH | |||||||||||||
| PID NCI | |||||||||||||
| Cross-References | |||||||||||||
| SwissProt | |||||||||||||
| TrEMBL | |||||||||||||
| UniProt Splice Variant | |||||||||||||
| Entrez Gene | |||||||||||||
| UniGene | |||||||||||||
| RefSeq | NM_153416 | ||||||||||||
| OMIM | |||||||||||||
| CCDS | CCDS27880 | ||||||||||||
| HPRD | |||||||||||||
| IMGT | |||||||||||||
| MGI ID | |||||||||||||
| MGI Symbol | |||||||||||||
| EMBL | |||||||||||||
| GenPept | |||||||||||||
| RNA Seq Atlas | |||||||||||||