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FLASH GENE

Symbol

AAAS

contributors: SGE - updated : 10-01-2011

HGNC name	achalasia, adrenocortical insufficiency, alacrimia
HGNC id	13666

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	AAAS ACTH resistant adrenal insufficiency
Location	12q13.13      Physical location : 53.701.240 - 53.715.412
Synonym name	adracalin
	alacryma-achalasia-adrenal insufficiency, neurologic disorder gene
	achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)
	aladin
Synonym symbol(s)	ALADIN, AAA, ADRACALA, GL003, ADRACALIN, DKFZp586G1624, AAASb

DNA

TYPE	functioning gene
STRUCTURE	14.17 kb     16 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_015665 16 - 1854 NP_056480 - 546 - - NM_001173466 15 - 1755 NP_001166937 - 513 ubiquitous 2005 16022285 three WD40 domains, one less than the original which we called AAAS-v1

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive stomach       highly Endocrine adrenal gland         Lymphoid/Immune thymus       highly Nervous brain hindbrain cerebellum       brain basal nuclei corpus callosum     Reproductive female system uterus cervix   highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

lung

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	four WD40 repeats
	C terminal end with triplet Ser-His-Leu (acting as PTS1)

HOMOLOGY

interspecies

ortholog to murine Aaas

Homologene

FAMILY	WD-repeat family of regulatory proteins
	nucleoporin family at the nuclear pore complex (NPC)

CATEGORY

transcription factor , transport

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nuclear envelope,pore
text	localized in the cytoplasm in AAAS syndrome

basic FUNCTION	playing a potential role in normal development of peripheral and central nervous systems
	playing a cell-type-specific role in regulating nucleocytoplasmic transport and in the maintenance and/or development of certain tissues
	playing an essential role for nuclear pore complexes targeting

CELLULAR PROCESS	cell cycle, division
	cell life, differentiation
	nucleotide, transcription

PHYSIOLOGICAL PROCESS

cellular trafficking transport

PATHWAY

metabolism

signaling

sensory transduction/vision

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with TMEM48, abrogation of this interaction may be important for the development of triple-A syndrome
	interacting with FTH1 (fibroblasts from triple A patients (with known AAAS mutations) lack nuclear FTH1, suggesting that the nuclear translocation of FTH1 is defective) (Storr 2009)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

AAAS

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS