AAAS - aladin WD repeat nucleoporin Gene

Also Known as AAA; AAASb; GL003; ALADIN; ADRACALA; ADRACALIN

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8086

About AAAS

Cytogenetic location: 12q13.13 Genomic coordinates (GRCh38): 12:53,307,460-53,321,610 (from NCBI)

This gene has 22 transcripts (splice variants), 203 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 20.2), adrenal (RPKM 16.0) and 25 other tissues.

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]

AAAS Products (2)

mRNA	Protein	Name
NM_001173466.2	NP_001166937.1	aladin isoform 2
NM_015665.6	NP_056480.1	aladin isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	27754849	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in microtubule bundle formation	IMP IMP: Inferred from mutant phenotype	26246606	GOA
involved in mitotic spindle assembly	IMP IMP: Inferred from mutant phenotype	26246606	GOA
acts upstream of or within nucleocytoplasmic transport	IDA IDA: Inferred from direct assay	12730363	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitotic spindle	IDA IDA: Inferred from direct assay	26246606	GOA
located in nuclear envelope	IDA IDA: Inferred from direct assay	24315095	GOA
part of nuclear pore	IDA IDA: Inferred from direct assay	12730363	GOA
located in spindle pole	IDA IDA: Inferred from direct assay	26246606	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AAAS Protein Structure

WD40

0
100
200
300
400
500
546 a.a.

Protein Preferred Names	Protein Names
aladin	Allgrove, triple-A

Related Diseases

Diseases	Alias
Achalasia-Addisonianism-Alacrima Syndrome	Allgrove Syndrome Triple-A Syndrome Achalasia-Addisonianism-Alacrimia Syndrome Alacrima-Achalasia-Adrenal Insufficiency Neurologic Disorder Triple A Syndrome Aaa Syndrome AAAS Glucocorticoid Deficiency With Achalasia Glucocorticoid Deficiency And Achalasia Addisonian-Achalasia Syndrome Hypoadrenalism With Achalasia Alacrima-Achalasia-Addisonianism Aaa Acth-Resistant Adrenal Insufficiency, Achalasia And Alacrima Achalasia Addisonianism Alacrimia Syndrome Achalasia Alacrima Syndrome Addisonian Achalasia Syndrome Achalasia-Addisonian Syndrome Achalasia-Alacrima Syndrome 2a Syndrome 3a Syndrome 4a Syndrome Adrenal Insufficiency-Achalasia-Alacrima Syndrome Double A Syndrome Quaternary A Syndrome Acth-Resistant Adrenal Insufficiency With Achalasia And Alacrima Allgrove'S Syndrome Adrenal Gland Hypofunction Adrenal Cortical Hypofunction
Spastic Paraparesis
Achalasia	Cardiospasm Achalasia Of Cardia Esophageal Achalasia Hypertensive Lower Esophageal Sphincter Idiopathic Achalasia Achalasia Cardia Idiopathic Achalasia Of Esophagus Primary Achalasia Achalasia Of Esophagus Lack Of Reflex Relaxation Of Lower Oesophageal Sphincter Aperistalsis Of The Oesophagus Achalasia Of Oesophagus Oesophageal Achalasia Achalasia Nos Cardia Spasm Cardia Achalasia Oesophageal Cardiospasm Oesophagus Achalasia Reflex Cardiospasm
Accommodative Spasm	Spasm Of Accommodation Cyclospasm Ciliary Muscle Spasm Ciliary Body Spasm
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Diabetic Polyneuropathy	Diabetes Mellitus With Polyneuropathy Polyneuropathy In Diabetes Diabetic Polyneuropathies Diabetic Neuropathy Nos
Schwannoma Of Twelfth Cranial Nerve	Hypoglossal Schwannoma Schwannoma Of The Twelfth Cranial Nerve
Hypoglossal Nerve Disease	Hypoglossal Nerve Diseases Disorder Of 12th Nerve Disorder Of Hypoglossal [12th] Nerve Disorder Of Hypoglossal Nerve Disorder Of Xii Nerve Disorders Of The Twelfth Cranial Nerve Disorders Of 12th Cranial Nerve
Familial Glucocorticoid Deficiency	Glucocorticoid Deficiency Acth Resistance Adrenal Unresponsiveness To Acth Hereditary Unresponsiveness To Adrenocorticotropic Hormone Isolated Glucocorticoid Deficiency Glucocorticoid Deficiency, Familial Glucocorticoid Deficiency 1
Fissured Tongue	Furrowed Tongue Plicated Tongue Tongue, Fissured Congenital Fissure Of Tongue Congenital Plicated Tongue Fissure Of Tongue Fissure Of Tongue, Congenital Geographic Tongue And Fissured Tongue Lingua Plicata Scrotal Tongue
Polycystic Liver Disease	Autosomal Dominant Polycystic Liver Disease Isolated Polycystic Liver Disease Pcld Congenital Cystic Liver Disease Congenital Hepatic Cyst Fibrocystic Liver Disease Isolated Autosomal Dominant Polycystic Liver Disease Adpcld Liver Disease, Polycystic Multiple Cysts Of Liver Pld - [Polycystic Liver Disease] Polycystic Liver Disorder Polycystic Liver Congenital Polycystic Disease Of Liver Congenital Polycystic Liver Disease
Autosomal Dominant Polycystic Kidney Disease	Polycystic Kidney Disease, Adult Type Adpkd Polycystic Kidney Diseases Polycystic Kidney, Autosomal Dominant Congenital Biliary Ectasias Polycystic Kidney And Hepatic Disease 1 Polycystic Kidney Disease, Autosomal Dominant Kidney, Polycystic, Disease, Autosomal Dominant Adult Polycystic Kidney Disease Polycystic Kidney, Adult Type Apckd - [Autosomal Polycystic Kidney Disease]
Polycystic Kidney Disease	Polycystic Kidney Diseases Pkd Polycystic Renal Disease Kidney Disease, Polycystic Polycystic Kidney, Autosomal Dominant

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Approval
Clinical Phase
Pre-clinical Phase

Approval

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-B0130R	Perindopril (Standard)	Inhibitor	99.92%	Unkown

Clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Phase
HY-160187	AAA	Antagonist	99.52%	Phase 4
HY-12861	CB-5083	Inhibitor	99.90%	Phase 1

Pre-clinical Phase

Bioactive Molecules (27)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-122632	Ciliobrevin D	Inhibitor	99.37%	Unkown
HY-119254	BAY-850	Inhibitor	98.93%	Unkown
HY-123872	MSC1094308	Inhibitor	99.89%	Unkown
HY-132158	MC-AAA-NHCH2OCH2COO-7-aminomethyl-10-methyl-11-fluoro camptothecin		96.17%	Unkown
HY-111548	Spastazoline	Inhibitor	98.50%	Unkown
HY-148900	SCFSkp2-IN-2	Inhibitor	99.01%	Unkown
HY-146074	RUVBL1/2 ATPase-IN-1	Inhibitor	99.63%	Unkown
HY-145147	AAA-10	Inhibitor	99.97%	Unkown
HY-100817	Rbin-2	Inhibitor	98.0%	Unkown
HY-N6660	Trisdecanoin	Inhibitor	98.0%	Unkown
HY-Q04764	TI17		95.97%	Unkown
HY-132159	MC-AAA-NHCH2OCH2COOH		98.56%	Unkown
HY-132160	7-Aminomethyl-10-methyl-11-fluoro camptothecin		99.24%	Unkown
HY-119254A	trans-BAY-850	Control	99.30%	Unkown
HY-122198	ML367	Inhibitor	99.84%	Unkown
HY-132160A	7-Aminomethyl-10-methyl-11-fluoro camptothecin TFA		96.52%	Unkown
HY-124776	NPD8733	Inhibitor	99.92%	Unkown
HY-18398	N6-Threonylcarbamoyladenosine		99.62%	Unkown
HY-P4460	AAA-pNA		98.29%	Unkown
HY-160187A	(Rac)-AAA		99.02%	Unkown
HY-124253	SMDC818909	Inhibitor	/	Unkown
HY-145147A	AAA-10 formic	Inhibitor	/	Unkown
HY-RS00015	AAAS Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-118460	ACJI-99C	Inhibitor	/	Unkown
HY-182141	AAA Trimer phosphoramidite		/	Unkown
HY-B0130S1	Perindopril-d5	Inhibitor	/	Unkown
HY-D2376	BH-Vis		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	AAAS	VGNC	VGNC:25437
Macaca mulatta	AAAS	VGNC	VGNC:99875
Mus musculus	AAAS	MGD	MGI:2443767
Rattus norvegicus	AAAS	RGD	RGD:1308701
Canis familiaris	AAAS	VGNC	VGNC:37402
Felis catus	AAAS	VGNC	VGNC:59447
Others	AAAS	NCBI