Tbio AAAS Aladin

Protein Summary

Description

Plays a role in the normal development of the peripheral and central nervous system. 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]

Uniprot Accession IDs

• Q9NRG9
• Q5JB47
• Q9NWI6
• Q9UG19

Gene Name

• AAAS

Ensembl ID

• ENST00000209873
• ENSP00000209873
• ENSG00000094914
• ENST00000394384
• ENSP00000377908

Symbol

• ADRACALA
• AAA
• AAASb
• GL003
• ALADIN
• ADRACALA
• ADRACALIN

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
pathway	0.99
transcription factor binding site profile	0.95
cellular component	0.75
biological process	0.74
small molecule perturbation	0.65

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 163.58   (req: < 5)

Gene RIFs: 34   (req: <= 3)

Antibodies: 221   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 163.58   (req: >= 5)

Gene RIFs: 34   (req: > 3)

Antibodies: 221   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 6

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0