2. Gene
  3. AAAS - aladin WD repeat nucleoporin Gene

AAAS - aladin WD repeat nucleoporin Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：阿拉丁 WD 重复核孔蛋白

种属: Homo sapiens

同用名: AAA; AAASb; GL003; ALADIN; ADRACALA; ADRACALIN

基因 ID: 8086 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的蛋白质是调节蛋白 WD 重复家族的成员，可能参与外周和中枢神经系统的正常发育。编码的蛋白质是核孔复合体的一部分，由 NDC1 固定在那里。该基因的缺陷是导致贲门失弛缓症-成瘾性-泪液综合征 (AAAS) 的原因，也称为三 A 综合征或 Allgrove 综合征。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供，2010 年 3 月]

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 基因产物(2)

mRNA Protein Name
NM_001173466.2 NP_001166937.1 aladin isoform 2
NM_015665.6 NP_056480.1 aladin isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
27754849 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in microtubule bundle formation IMP
IMP: 通过突变表型推断
26246606 GOA
involved in mitotic spindle assembly IMP
IMP: 通过突变表型推断
26246606 GOA
acts upstream of or within nucleocytoplasmic transport IDA
IDA: 通过直接分析推断
12730363 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitotic spindle IDA
IDA: 通过直接分析推断
26246606 GOA
located in nuclear envelope IDA
IDA: 通过直接分析推断
24315095 GOA
part of nuclear pore IDA
IDA: 通过直接分析推断
12730363 GOA
located in spindle pole IDA
IDA: 通过直接分析推断
26246606 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

AAAS 蛋白结构

WD40

WD40: WD domain, G-beta repeat (240 - 273)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 546 a.a.
蛋白主名 其他名称

aladin

Allgrove, triple-A

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Clinical Phase
生物活性分子 (1)
目录号 产品名 作用方式
纯度 Phase
HY-12861 CB-5083 Inhibitor 99.90% Phase 1
Pre-clinical Phase
生物活性分子 (23)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-122632 Ciliobrevin D Inhibitor 99.47% 否
HY-119254 BAY-850 Inhibitor 98.12% 否
HY-123872 MSC1094308 Inhibitor 99.89% 否
HY-111548 Spastazoline Inhibitor 98.61% 否
HY-160187 AAA 98.10% 否
HY-100817 Rbin-2 Inhibitor ≥98.0% 否
HY-145147 AAA-10 Inhibitor ≥98.0% 否
HY-148900 SCFSkp2-IN-2 Inhibitor 99.44% 否
HY-145795 OF-02 ≥98.0% 否
HY-146074 RUVBL1/2 ATPase-IN-1 99.63% 否
HY-Q04764 TI17 ≥97.0% 否
HY-N6660 Trisdecanoin Inhibitor ≥98.0% 否
HY-122198 ML367 99.84% 否
HY-132160A 7-Aminomethyl-10-methyl-11-fluoro camptothecin TFA 96.52% 否
HY-124776 NPD8733 99.92% 否
HY-132160 7-Aminomethyl-10-methyl-11-fluoro camptothecin 99.30% 否
HY-132159 MC-AAA-NHCH2OCH2COOH 98.56% 否
HY-134883 PRMT5-IN-4 Inhibitor ≥99.0% 否
HY-132158 MC-AAA-NHCH2OCH2COO-7-aminomethyl-10-methyl-11-fluoro camptothecin / 否
HY-145147A AAA-10 formic Inhibitor / 否
HY-P4460 AAA-pNA / 否
HY-RS00015 AAAS Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-D2376 BH-Vis / 否

直系同源

种属 基因名 来源 基因 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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