NUP88
entrez
4927
canonical
uniprot
Q99567
canonical
ensembl
ENSG00000108559
resolver
ensp
ENSP00000225696
resolver
ensp
ENSP00000458954
resolver
ensp
ENSP00000515050
resolver
enst
ENST00000225696
resolver
enst
ENST00000573584
resolver
genesymbol
NUP88
resolver
hgnc
HGNC:8067
resolver
uniprot
B4DP20
resolver
uniprot
D3DTM2
resolver
uniprot
J3KMX1
resolver
uniprot
Q9BWE5
resolver
uniprot_entry
B4DP20_HUMAN
resolver
uniprot_entry
J3KMX1_HUMAN
resolver
uniprot_entry
NUP88_HUMAN
resolver
uniprot_sec
D3DTM2
resolver
uniprot_sec
Q9BWE5
resolver
amino_acid_sequence
MAAAEGPVGDGELWQTWLPNHVVFLRLREGLKNQSPTEAEKPASSSLPSSPPPQLLTRNVVFGLGGELFLWDGEDSSFLVVRLRGPSGGGEEPALSQYQRLLCINPPLFEIYQVLLSPTQHHVALIGIKGLMVLELPKRWGKNSEFEGGKSTVNCSTTPVAERFFTSSTSLTLKHAAWYPSEILDPHVVLLTSDNVIRIYSLREPQTPTNVIILSEAEEESLVLNKGRAYTASLGETAVAFDFGPLAAVPKTLFGQNGKDEVVAYPLYILYENGETFLTYISLLHSPGNIGKLLGPLPMHPAAEDNYGYDACAVLCLPCVPNILVIATESGMLYHCVVLEGEEEDDHTSEKSWDSRIDLIPSLYVFECVELELALKLASGEDDPFDSDFSCPVKLHRDPKCPSRYHCTHEAGVHSVGLTWIHKLHKFLGSDEEDKDSLQELSTEQKCFVEHILCTKPLPCRQPAPIRGFWIVPDILGPTMICITSTYECLIWPLLSTVHPASPPLLCTREDVEVAESPLRVLAETPDSFEKHIRSILQRSVANPAFLKASEKDIAPPPEECLQLLSRATQVFREQYILKQDLAKEEIQRRVKLLCDQKKKQLEDLSYCREERKSLREMAERLADKYEEAKEKQEDIMNRMKKLLHSFHSELPVLSDSERDMKKELQLIPDQLRHLGNAIKQVTMKKDYQQQKMEKVLSLPKPTIILSAYQRKCIQSILKEEGEHIREMVKQINDIRNHVNF
uniprot
proteins
disease_involvement
DISEASE: Fetal akinesia deformation sequence 4 (FADS4) [MIM:618393]: A clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. Clinical features include fetal akinesia, intrauterine growth retardation, polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial abnormalities, and cryptorchidism. FADS4 inheritance is autosomal recessive. {ECO:0000269|PubMed:30543681}. Note=The disease is caused by variants affecting the gene represented in this entry. Disease mechanism likely includes impaired formation of the neuromuscular junction. NUP88 silencing in vitro results in reduced levels of rapsyn, a key player in clustering of nicotinic acetylcholine receptors (nAChRs) at the neuromuscular junction. Decreased rapsyn levels have also been observed in a patient muscle biopsy. {ECO:0000269|PubMed:30543681}.
uniprot
proteins
function
FUNCTION: Component of nuclear pore complex. {ECO:0000269|PubMed:30543681}.
uniprot
proteins
mass_dalton
83542
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
30543681
uniprot
proteins
pubmed
9049309
uniprot
proteins
sequence_length
741
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus, nuclear pore complex {ECO:0000269|PubMed:30543681}.
uniprot
proteins