| Type | Description |
|---|---|
| Definition | aladin WD repeat nucleoporin |
| Date | Results | Publications |
|---|---|---|
| 2019-09-07 10:11:00 | A homozygous deletion of the entire AAAS gene was identified in a patient with triple A syndrome. | 31071487 |
| 2019-01-26 11:47:00 | AAAS mutations were identified in two families with hereditary spastic paraplegia. | 30381913 |
| 2018-10-27 11:21:00 | Mutation in AAAS gene is associated with triple A syndrome. | 29874194 |
| 2018-07-21 11:28:00 | Clinical and genetic characteristics of six patients with triple A syndrome and AAAS mutations are described. | 29255950 |
| 2018-02-24 11:44:00 | Nine different AAAS mutations were found, including one new mutation: c.755G>C, p.(Trp252Ser) in a French cohort of Triple A syndrome patients. | 29237697 |
| Type | IDs |
|---|---|
| Synonymous | AAA, AAASb, ADRACALA, ADRACALIN, ALADIN, GL003 |
| Gene |
UniProtKB-ID:
AAAS_HUMAN
UniprotKB:
Q9NRG9
UniParc:
UPI00004B2BEF,
UPI0000039E40
EMBL:
AJ289841,
AJ289846,
AJ289852,
AJ289850,
AJ289854,
AJ289853,
AJ289847,
AY237818,
AJ289842,
AJ289844,
AK000833,
AJ289845,
BT006912,
AJ289849,
AJ289848,
AJ289856,
AJ289851,
AF226048,
AL110160,
BC000659,
AJ297977,
AJ289855,
AC073611,
AJ289843,
AJ289857
Ensembl:
ENSG00000094914
KO:
hsa:8086
|
| Nucleutide sequences |
EMBL-CDS:
AAP35558.1,
CAC19017.1,
AAH00659.1,
CAC17465.1,
BAA91394.1,
AAP69911.1,
CAC19038.1,
AAF86948.1,
CAB53665.2
Gene_ORFName:
GL003
Ensembl_TRS:
ENST00000209873,
ENST00000394384
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000209873,
ENSP00000377908
RefSeq:
NP_056480.1,
NP_001166937.1,
XP_011537082.1,
XP_011537080.1
|
| Others |
UniRef100:
UniRef100_Q9NRG9
UniRef90:
UniRef90_Q9NRG9
UniRef50:
UniRef50_Q9NRG9
UniGene:
Hs.369144
CCDS:
CCDS53797.1,
CCDS8856.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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