Functions and Diseases

RBP Type Non-canonical_RBPs
Diseases Disease
Drug N.A.
Main interacting RNAs N.A.
Moonlighting functions Metabolic enzyme
Localizations N.A.
BulkPerturb-seq

Description

Ensembl ID ENSG00000094914 Gene ID 8086 Accession 13666
Symbol AAAS Alias AAA;AAASb;GL003;ALADIN;ADRACALA;ADRACALIN Full Name aladin WD repeat nucleoporin
Status Confidence Length 17303 bases Strand Minus strand
Position 12 : 53307456 - 53324758 RNA binding domain N.A.
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]

RNA binding domains (RBDs)

Protein Domain Pfam ID E-value Domain number

RNA binding proteomes (RBPomes)

Pubmed ID Full Name Cell Author Time Doi

Literatures on RNA binding capacity

Pubmed ID Title Author Time Journal

Transcripts

Name Transcript ID bp Protein Translation ID
AAAS-212 ENST00000548931 1109 358aa ENSP00000457518
AAAS-220 ENST00000552876 2016 No protein -
AAAS-213 ENST00000549450 1606 No protein -
AAAS-202 ENST00000394384 1703 513aa ENSP00000377908
AAAS-201 ENST00000209873 1815 546aa ENSP00000209873
AAAS-217 ENST00000550286 1652 422aa ENSP00000446885
AAAS-208 ENST00000547757 2292 127aa ENSP00000448020
AAAS-204 ENST00000546562 2690 No protein -
AAAS-206 ENST00000547238 2248 No protein -
AAAS-221 ENST00000672797 2101 No protein -
AAAS-207 ENST00000547520 1705 No protein -
AAAS-219 ENST00000552161 2566 No protein -
AAAS-211 ENST00000548880 1937 No protein -
AAAS-216 ENST00000550033 900 No protein -
AAAS-222 ENST00000672900 2583 No protein -
AAAS-203 ENST00000546393 1883 No protein -
AAAS-205 ENST00000546572 582 No protein -
AAAS-209 ENST00000547761 827 No protein -
AAAS-215 ENST00000549983 860 No protein -
AAAS-214 ENST00000549821 596 No protein -
AAAS-210 ENST00000548258 550 No protein -
AAAS-218 ENST00000551724 552 No protein -

Pathways

Pathway ID Pathway Name Source

Phenotypes

ensgID Trait pValue Pubmed ID

GWAS

ensgIDSNPChromosomePosition TraitPubmedIDOr or BEAT EFO ID

Protein-Protein Interaction (PPI)

Paralogs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Orthologs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Gene Ontology

Go ID Go term No. evidence Entries Species Category
GO:0000922located_in spindle pole1IDAHomo_sapiens(9606)Component
GO:0001578involved_in microtubule bundle formation1IMPHomo_sapiens(9606)Process
GO:0003674enables molecular_function1NDHomo_sapiens(9606)Function
GO:0005515enables protein binding1IPIHomo_sapiens(9606)Function
GO:0005634located_in nucleus1HDAHomo_sapiens(9606)Component
GO:0005635located_in nuclear envelope2IDA,TASHomo_sapiens(9606)Component
GO:0005643part_of nuclear pore3IBA,IDA,NASHomo_sapiens(9606)Component
GO:0005654located_in nucleoplasm1IDAHomo_sapiens(9606)Component
GO:0005813located_in centrosome1IDAHomo_sapiens(9606)Component
GO:0005829located_in cytosol1IDAHomo_sapiens(9606)Component
GO:0006913involved_in nucleocytoplasmic transport3IBA,IDA,NASHomo_sapiens(9606)Process
GO:0007612involved_in learning1IEAHomo_sapiens(9606)Process
GO:0009566involved_in fertilization1IEAHomo_sapiens(9606)Process
GO:0015031involved_in protein transport1IEAHomo_sapiens(9606)Process
GO:0016020located_in membrane1HDAHomo_sapiens(9606)Component
GO:0031965located_in nuclear membrane1IDAHomo_sapiens(9606)Component
GO:0046822involved_in regulation of nucleocytoplasmic transport1NASHomo_sapiens(9606)Process
GO:0051028involved_in mRNA transport1IEAHomo_sapiens(9606)Process
GO:0072686located_in mitotic spindle1IDAHomo_sapiens(9606)Component
GO:0090307involved_in mitotic spindle assembly1IMPHomo_sapiens(9606)Process

Expression