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AAAS

GENERAL INFORMATION

Gene name

 AAAS

Gene description

 Achalasia, adrenocortical insufficiency, alacrimia

Protein class

 Disease related genes
Potential drug targets
Predicted intracellular proteins
Transporters

Predicted localization

 Intracellular

Number of transcripts

 5
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Membranous and cytoplasmic expression in most tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining in cells/structures not annotated, view images. Pending external verification.

Reliability score

 Approved based on 1 antibody.
HPA040086
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 AAAS

Synonyms

Description

 Achalasia, adrenocortical insufficiency, alacrimia (HGNC Symbol)

Entrez gene 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]

Chromosome

 12

Cytoband

 q13.13

Chromosome location (bp)

 53307456 - 53324864

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000094914 (version 83.38)

Entrez gene

 8086

UniProt

 Q9NRG9 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9NRG9

Antibodypedia

 AAAS antibodies

PROTEIN BROWSER
AAAS-001
AAAS-002
AAAS-004
AAAS-012
AAAS-020

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
AAAS-001
ENSP00000209873
ENST00000209873
Q9NRG9 [Direct mapping]
Aladin
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Transporters
   Transporter channels and pores
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000278 [mitotic cell cycle]
GO:0003674 [molecular_function]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005635 [nuclear envelope]
GO:0005643 [nuclear pore]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005813 [centrosome]
GO:0005975 [carbohydrate metabolic process]
GO:0006913 [nucleocytoplasmic transport]
GO:0007077 [mitotic nuclear envelope disassembly]
GO:0007612 [learning]
GO:0008033 [tRNA processing]
GO:0008645 [hexose transport]
GO:0009566 [fertilization]
GO:0010467 [gene expression]
GO:0010827 [regulation of glucose transport]
GO:0015031 [protein transport]
GO:0015758 [glucose transport]
GO:0016020 [membrane]
GO:0016032 [viral process]
GO:0016925 [protein sumoylation]
GO:0019048 [modulation by virus of host morphology or physiology]
GO:0019054 [modulation by virus of host process]
GO:0019058 [viral life cycle]
GO:0019083 [viral transcription]
GO:0019221 [cytokine-mediated signaling pathway]
GO:0031047 [gene silencing by RNA]
GO:0031965 [nuclear membrane]
GO:0034605 [cellular response to heat]
GO:0043687 [post-translational protein modification]
GO:0044267 [cellular protein metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0046822 [regulation of nucleocytoplasmic transport]
GO:0051028 [mRNA transport]
GO:0055085 [transmembrane transport]
GO:1900034 [regulation of cellular response to heat]
Show all
 546 aa
59.6 kDa 		No 0
AAAS-002
ENSP00000377908
ENST00000394384
Q9NRG9 [Direct mapping]
Aladin
Show all
Transporters
   Transporter channels and pores
   SCAMPI predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000278 [mitotic cell cycle]
GO:0003674 [molecular_function]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005635 [nuclear envelope]
GO:0005643 [nuclear pore]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005813 [centrosome]
GO:0005975 [carbohydrate metabolic process]
GO:0006913 [nucleocytoplasmic transport]
GO:0007077 [mitotic nuclear envelope disassembly]
GO:0008033 [tRNA processing]
GO:0008645 [hexose transport]
GO:0010467 [gene expression]
GO:0010827 [regulation of glucose transport]
GO:0015031 [protein transport]
GO:0015758 [glucose transport]
GO:0016020 [membrane]
GO:0016032 [viral process]
GO:0016925 [protein sumoylation]
GO:0019048 [modulation by virus of host morphology or physiology]
GO:0019054 [modulation by virus of host process]
GO:0019058 [viral life cycle]
GO:0019083 [viral transcription]
GO:0019221 [cytokine-mediated signaling pathway]
GO:0031047 [gene silencing by RNA]
GO:0031965 [nuclear membrane]
GO:0034605 [cellular response to heat]
GO:0043687 [post-translational protein modification]
GO:0044267 [cellular protein metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0046822 [regulation of nucleocytoplasmic transport]
GO:0051028 [mRNA transport]
GO:0055085 [transmembrane transport]
GO:1900034 [regulation of cellular response to heat]
Show all
 513 aa
55.8 kDa 		No 0
AAAS-004
ENSP00000446885
ENST00000550286
F8VZ44 [Direct mapping]
Aladin
Show all
   Phobius predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005813 [centrosome]
GO:0031965 [nuclear membrane]
Show all
 422 aa
45.6 kDa 		No 0
AAAS-012
ENSP00000448020
ENST00000547757
F8VUB6 [Direct mapping]
Aladin
Show all
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
 277 aa
30.3 kDa 		No 0
AAAS-020
ENSP00000457518
ENST00000548931
H3BU82 [Direct mapping]
Aladin
Show all
   Phobius predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
 358 aa
38.5 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.