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Field

Term
Gene name

Class

Subclass

Chromosome

External id

In atlas

Reliability

Reliability

Reliability

Validation

Method

Validation

Method

Validation

Method

Validation

Location

Searches

Tissue

Cell type

Expression

Tissue

Specificity

Cell line

Specificity

Cancer

Specificity

Tissue

Detectable

Cell line

Detectable

Cancer

Detectable

Cancer

Prognosis

Category

Score

Score

Score

Antibodies

Column

 
 
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AAAS
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PATHOLOGY ATLAS

GENE/PROTEIN

Antibody validation

Dictionary

Level of antibody staining/expression





High
Medium
Low
Not detected

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
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA category

TCGA (cancer tissue):Expressed in all
HPA (cell line):Expressed in all
HPA (normal tissue):Expressed in all

Protein evidence

Evidence at protein level

Protein expression
normal tissue

Membranous and cytoplasmic expression in most tissues.

ANTIBODY IHC RELIABILITY

Data reliability
description

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

Reliability score

Approved based on 1 antibody.
HPA040086
SHOW MORE

PROGNOSTIC SUMMARY

Prognostic marker in renal cancer (unfavourable).
Renal cancer p<0.001
Show all

RNA EXPRESSION OVERVIEW

TCGA dataset
RNA cancer category: Expressed in all

PROTEIN EXPRESSION

Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY

HPA040086

Cancer

Cancer staining

Protein
expression of
normal tissue

Breast cancer
 
Carcinoid
 
Cervical cancer
 
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Cancer

Cancer staining

Protein
expression of
normal tissue

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Staining summary

Most hepatocellular carcinomas and non-Hodgkins lymphomas along with a few malignant melanomas, breast, testicular, pancreatic and renal cancers displayed moderate to strong cytoplasmic immunoreactivity. Remaining malignant cells were weakly stained or negative.

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
Show all
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

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