Homo sapiens Gene: AAAS
Summary
InnateDB Gene IDBG-36498.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol AAAS
Gene Name achalasia, adrenocortical insufficiency, alacrimia
Synonyms AAA; AAASb; ADRACALA; ADRACALIN; ALADIN;
Species Homo sapiens
Ensembl Gene ENSG00000094914
Encoded Proteins
achalasia, adrenocortical insufficiency, alacrimia
achalasia, adrenocortical insufficiency, alacrimia
achalasia, adrenocortical insufficiency, alacrimia
achalasia, adrenocortical insufficiency, alacrimia
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:53307456-53324864
Strand Reverse strand
Band q13.13
Transcripts
ENST00000209873 ENSP00000209873
ENST00000394384 ENSP00000377908
ENST00000552876
ENST00000550286 ENSP00000446885
ENST00000548931 ENSP00000457518
ENST00000550033
ENST00000547520
ENST00000546572
ENST00000546393
ENST00000547761
ENST00000547757 ENSP00000448020
ENST00000549983
ENST00000547238
ENST00000549821
ENST00000549450
ENST00000548258
ENST00000551724
ENST00000552161
ENST00000546562
ENST00000548880
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated
Total 8 [view]
Protein-Protein 8 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
GO:0005515 protein binding
Biological Process
GO:0000278 mitotic cell cycle
GO:0005975 carbohydrate metabolic process
GO:0006913 nucleocytoplasmic transport
GO:0007077 mitotic nuclear envelope disassembly
GO:0007612 learning
GO:0008645 hexose transport
GO:0009566 fertilization
GO:0010827 regulation of glucose transport
GO:0015031 protein transport
GO:0015758 glucose transport
GO:0016032 viral process
GO:0019221 cytokine-mediated signaling pathway
GO:0044281 small molecule metabolic process
GO:0046822 regulation of nucleocytoplasmic transport
GO:0051028 mRNA transport
GO:0055085 transmembrane transport
Cellular Component
GO:0005634 nucleus
GO:0005635 nuclear envelope
GO:0005643 nuclear pore
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0016020 membrane
GO:0031965 nuclear membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Transmembrane transport of small molecules pathway
Influenza Infection pathway
Interactions of Vpr with host cellular proteins pathway
Vpr-mediated nuclear import of PICs pathway
Myoclonic epilepsy of Lafora pathway
Antiviral mechanism by IFN-stimulated genes pathway
Glucose transport pathway
Hexose transport pathway
Cytokine Signaling in Immune system pathway
Metabolism of carbohydrates pathway
Late Phase of HIV Life Cycle pathway
Viral Messenger RNA Synthesis 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
Regulation of Glucokinase by Glucokinase Regulatory Protein pathway
M Phase pathway
HIV Life Cycle pathway
Mitotic Prophase pathway
Rev-mediated nuclear export of HIV RNA pathway
Cell Cycle, Mitotic pathway
HIV Infection pathway
ISG15 antiviral mechanism pathway
Influenza Life Cycle pathway
Nuclear import of Rev protein 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
KEGG
RNA transport pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.369144
RefSeq NM_001173466 NM_015665 XM_006719617 XM_006719618
HUGO
OMIM
CCDS CCDS53797 CCDS8856
HPRD 05646
IMGT
EMBL
GenPept
RNA Seq Atlas