AAAS
entrez
8086
canonical
uniprot
Q9NRG9
canonical
ensembl
ENSG00000094914
resolver
ensembl
ENSG00000291836
resolver
ensp
ENSP00000209873
resolver
ensp
ENSP00000377908
resolver
genesymbol
AAAS
resolver
genesymbol_syn
ADRACALA
resolver
hgnc
HGNC:13666
resolver
uniprot
Q5JB47
resolver
uniprot
Q9NWI6
resolver
uniprot
Q9UG19
resolver
uniprot_entry
AAAS_HUMAN
resolver
uniprot_sec
Q5JB47
resolver
uniprot_sec
Q9NWI6
resolver
uniprot_sec
Q9UG19
resolver
amino_acid_sequence
MCSLGLFPPPPPRGQVTLYEHNNELVTGSSYESPPPDFRGQWINLPVLQLTKDPLKTPGRLDHGTRTAFIHHREQVWKRCINIWRDVGLFGVLNEIANSEEEVFEWVKTASGWALALCRWASSLHGSLFPHLSLRSEDLIAEFAQVTNWSSCCLRVFAWHPHTNKFAVALLDDSVRVYNASSTIVPSLKHRLQRNVASLAWKPLSASVLAVACQSCILIWTLDPTSLSTRPSSGCAQVLSHPGHTPVTSLAWAPSGGRLLSASPVDAAIRVWDVSTETCVPLPWFRGGGVTNLLWSPDGSKILATTPSAVFRVWEAQMWTCERWPTLSGRCQTGCWSPDGSRLLFTVLGEPLIYSLSFPERCGEGKGCVGGAKSATIVADLSETTIQTPDGEERLGGEAHSMVWDPSGERLAVLMKGKPRVQDGKPVILLFRTRNSPVFELLPCGIIQGEPGAQPQLITFHPSFNKGALLSVGWSTGRIAHIPLYFVNAQFPRFSPVLGRAQEPPAGGGGSIHDLPLFTETSPTSAPWDPLPGPPPVLPHSPHSHL
uniprot
proteins
disease_involvement
DISEASE: Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550]: An autosomal recessive disorder characterized by adreno-corticotropic hormone (ACTH)-resistant adrenal failure, achalasia of the esophageal cardia and alacrima. The syndrome is associated with variable and progressive neurological impairment involving the central, peripheral, and autonomic nervous system. Other features such as palmoplantar hyperkeratosis, short stature, facial dysmorphy and osteoporosis may also be present. {ECO:0000269|PubMed:11159947}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a role in the normal development of the peripheral and central nervous system (PubMed:11062474, PubMed:11159947, PubMed:16022285). Required for the correct localization of aurora kinase AURKA and the microtubule minus end-binding protein NUMA1 as well as a subset of AURKA targets which ensures proper spindle formation and timely chromosome alignment (PubMed:26246606). {ECO:0000269|PubMed:11062474, ECO:0000269|PubMed:11159947, ECO:0000269|PubMed:16022285, ECO:0000269|PubMed:26246606}.
uniprot
proteins
mass_dalton
59574
uniprot
proteins
pubmed
11062474
uniprot
proteins
pubmed
11159947
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16022285
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19782045
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26246606
uniprot
proteins
pubmed
27754849
uniprot
proteins
sequence_length
546
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus, nuclear pore complex {ECO:0000269|PubMed:19782045}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:26246606}. Nucleus envelope {ECO:0000269|PubMed:27754849}. Note=In metaphase cells localizes within the spindle with some accumulation around spindle poles, with the highest concentration between the centrosome and metaphase plate (PubMed:26246606). The localization to the spindle is microtubule-mediated (PubMed:26246606). {ECO:0000269|PubMed:26246606}.
uniprot
proteins