InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: AAAS

Summary

InnateDB Protein

IDBP-36500.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

AAAS

Protein Name

achalasia, adrenocortical insufficiency, alacrimia

Synonyms

AAA; AAASb; ADRACALA; ADRACALIN; ALADIN;

Species

Homo sapiens

Ensembl Protein

ENSP00000209873

InnateDB Gene

IDBG-36498 (AAAS)

Protein Structure

UniProt Annotation

Function

Plays a role in the normal development of the peripheral and central nervous system.

Subcellular Localization

Nucleus, nuclear pore complex {ECO:0000269PubMed:19782045}.

Disease Associations

Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550]: An autosomal recessive disorder characterized by adreno-corticotropic hormone (ACTH)-resistant adrenal failure, achalasia of the esophageal cardia and alacrima. The syndrome is associated with variable and progressive neurological impairment involving the central, peripheral, and autonomic nervous system. Other features such as palmoplantar hyperkeratosis, short stature, facial dysmorphy and osteoporosis may also be present. {ECO:0000269PubMed:11159947}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed. Particularly abundant expression is found in cerebellum, corpus callosum, adrenal gland, pituitary gland, gastrointestinal structures and fetal lung. {ECO:0000269PubMed:16022285}.

Comments

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