AAAS - aladin WD repeat nucleoporin Gene

Homo sapiens

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

Gene ID: 8086 | Gene type: protein coding

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

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

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-12861	CB-5083	Inhibitor	99.90%	Phase 1

Pre-clinical Phase

Bioactive Molecules (22)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-122632	Ciliobrevin D	Inhibitor	99.47%	Unkown
HY-119254	BAY-850	Inhibitor	99.83%	Unkown
HY-123872	MSC1094308	Inhibitor	99.89%	Unkown
HY-111548	Spastazoline	Inhibitor	99.27%	Unkown
HY-145147	AAA-10	Inhibitor	≥98.0%	Unkown
HY-100817	Rbin-2		≥98.0%	Unkown
HY-122198	ML367	Inhibitor	99.84%	Unkown
HY-160187	AAA		≥98.0%	Unkown
HY-145795	OF-02		≥98.0%	Unkown
HY-146074	RUVBL1/2 ATPase-IN-1		99.78%	Unkown
HY-Q04764	TI17		≥90.0%	Unkown
HY-132160A	7-Aminomethyl-10-methyl-11-fluoro camptothecin TFA		96.52%	Unkown
HY-148900	SCFSkp2-IN-2	Inhibitor	99.44%	Unkown
HY-132160	7-Aminomethyl-10-methyl-11-fluoro camptothecin		99.30%	Unkown
HY-134883	PRMT5-IN-4	Inhibitor	≥99.0%	Unkown
HY-N6660	Trisdecanoin	Inhibitor	≥98.0%	Unkown
HY-132158	MC-AAA-NHCH2OCH2COO-7-aminomethyl-10-methyl-11-fluoro camptothecin		/	Unkown
HY-124776	NPD8733		/	Unkown
HY-132159	MC-AAA-NHCH2OCH2COOH		98.56%	Unkown
HY-145147A	AAA-10 formic	Inhibitor	/	Unkown
HY-P4460	AAA-pNA		/	Unkown
HY-RS00015	AAAS Human Pre-designed siRNA Set A		/	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

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