Property Summary

NCBI Gene PubMed Count 41
Grant Count 209
R01 Count 104
Funding $46,757,488.74
PubMed Score 1684.15
PubTator Score 162.43

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
Rheumatoid Arthritis -1.200 0.011
osteosarcoma -1.346 0.000
medulloblastoma, large-cell 1.100 0.000
lung cancer 1.100 0.004

Synonym

Accession Q9NRG9 Q5JB47 Q9NWI6 Q9UG19
Symbols AAA
AAASb
GL003
ALADIN
ADRACALA
ADRACALIN

Gene

Gene RIF (27)

PMID Text
25867024 down-regulating ALADIN results in decreased oxidative stress response leading to alteration in steroidogenesis, highlighting our knock-down cell model as an important in-vitro tool for studying the adrenal phenotype in triple A syndrome
25781531 Triple A syndrome with a novel indel mutation in the AAAS gene and delayed puberty.
23825130 Data suggest ALADIN is involved in resistance to oxidative stress in adrenocortical cells/neurons; ALADIN knockdown down-regulates StAR (steroidogenic acute regulatory protein) and P45011beta (cytochrome P450 family 11 subfamily B polypeptide 1).
23073554 The compromising c.43C>A mutation is predicted to cause a p.Gln15Lys amino acid substitution in the ALADIN protein.
21565631 identification of two novel mutations in the AAAS gene associated with achalasia adrenocortical insufficiency alacrimia syndrome
20931227 Sequencing of the AAAS gene detected a compound heterozygous mutation consisting of a novel mutation p.Ser296Tyr (c.887C>A) in exon 9 and a previously described p.Ser263Pro (c.787T>C) missense mutation in exon 8 in both siblings triple A syndrome.
20499090 In all children with mutation in AAAS gene, regular follow up of adrenal function is necessary to avoid adrenal crisis and start substitution therapy as soon as adrenal insufficiency is noted.
20447142 Study broadened the allelic and phenotypic spectrum of Allgrove syndrome due to AAAS mutations; the recurrence of the Leu469Pro mutation highlights a possible major role for this alteration in the Italian population.
19855093 ALADIN interact with FTH1 and FTH1 nuclear translocation is enhanced when ALADIN is coexpressed.
19782045 ALADIN is anchored in the nuclear envelope via NDC1 and that this interaction gets lost, if ALADIN is mutated.
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AA Sequence

MCSLGLFPPPPPRGQVTLYEHNNELVTGSSYESPPPDFRGQWINLPVLQLTKDPLKTPGRLDHGTRTAFI      1 - 70
HHREQVWKRCINIWRDVGLFGVLNEIANSEEEVFEWVKTASGWALALCRWASSLHGSLFPHLSLRSEDLI     71 - 140
AEFAQVTNWSSCCLRVFAWHPHTNKFAVALLDDSVRVYNASSTIVPSLKHRLQRNVASLAWKPLSASVLA    141 - 210
VACQSCILIWTLDPTSLSTRPSSGCAQVLSHPGHTPVTSLAWAPSGGRLLSASPVDAAIRVWDVSTETCV    211 - 280
PLPWFRGGGVTNLLWSPDGSKILATTPSAVFRVWEAQMWTCERWPTLSGRCQTGCWSPDGSRLLFTVLGE    281 - 350
PLIYSLSFPERCGEGKGCVGGAKSATIVADLSETTIQTPDGEERLGGEAHSMVWDPSGERLAVLMKGKPR    351 - 420
VQDGKPVILLFRTRNSPVFELLPCGIIQGEPGAQPQLITFHPSFNKGALLSVGWSTGRIAHIPLYFVNAQ    421 - 490
FPRFSPVLGRAQEPPAGGGGSIHDLPLFTETSPTSAPWDPLPGPPPVLPHSPHSHL                  491 - 546
//

Text Mined References (50)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25867024 2015 Role of ALADIN in human adrenocortical cells for oxidative stress response and steroidogenesis.
25781531 2015 Triple A syndrome with a novel indel mutation in the AAAS gene and delayed puberty.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23825130 2013 Deficiency of ALADIN impairs redox homeostasis in human adrenal cells and inhibits steroidogenesis.
23073554 2013 The genetic basis of triple A (Allgrove) syndrome in a Greek family.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22223895 2012 Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-?-acetylation features.
21630459 2011 Proteomic characterization of the human sperm nucleus.
21565631 2011 Mutation spectra of the AAAS gene in Iranian families with Allgrove Syndrome.
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