NUP107
entrez
57122
canonical
uniprot
P57740
canonical
ensembl
ENSG00000111581
resolver
ensp
ENSP00000229179
resolver
ensp
ENSP00000441448
resolver
ensp
ENSP00000578544
resolver
genesymbol
NUP107
resolver
hgnc
HGNC:29914
resolver
uniprot
B4DZ67
resolver
uniprot
Q6PJE1
resolver
uniprot_entry
NU107_HUMAN
resolver
uniprot_sec
B4DZ67
resolver
uniprot_sec
Q6PJE1
resolver
amino_acid_sequence
MDRSGFGEISSPVIREAEVTRTARKQSAQKRVLLQASQDENFGNTTPRNQVIPRTPSSFRQPFTPTSRSLLRQPDISCILGTGGKSPRLTQSSGFFGNLSMVTNLDDSNWAAAFSSQRSGLFTNTEPHSITEDVTISAVMLREDDPGEAASMSMFSDFLQSFLKHSSSTVFDLVEEYENICGSQVNILSKIVSRATPGLQKFSKTASMLWLLQQEMVTWRLLASLYRDRIQSALEEESVFAVTAVNASEKTVVEALFQRDSLVRQSQLVVDWLESIAKDEIGEFSDNIEFYAKSVYWENTLHTLKQRQLTSYVGSVRPLVTELDPDAPIRQKMPLDDLDREDEVRLLKYLFTLIRAGMTEEAQRLCKRCGQAWRAATLEGWKLYHDPNVNGGTELEPVEGNPYRRIWKISCWRMAEDELFNRYERAIYAALSGNLKQLLPVCDTWEDTVWAYFRVMVDSLVEQEIQTSVATLDETEELPREYLGANWTLEKVFEELQATDKKRVLEENQEHYHIVQKFLILGDIDGLMDEFSKWLSKSRNNLPGHLLRFMTHLILFFRTLGLQTKEEVSIEVLKTYIQLLIREKHTNLIAFYTCHLPQDLAVAQYALFLESVTEFEQRHHCLELAKEADLDVATITKTVVENIRKKDNGEFSHHDLAPALDTGTTEEDRLKIDVIDWLVFDPAQRAEALKQGNAIMRKFLASKKHEAAKEVFVKIPQDSIAEIYNQCEEQGMESPLPAEDDNAIREHLCIRAYLEAHETFNEWFKHMNSVPQKPALIPQPTFTEKVAHEHKEKKYEMDFGIWKGHLDALTADVKEKMYNVLLFVDGGWMVDVREDAKEDHERTHQMVLLRKLCLPMLCFLLHTILHSTGQYQECLQLADMVSSERHKLYLVFSKEELRKLLQKLRESSLMLLDQGLDPLGYEIQL
uniprot
proteins
disease_involvement
DISEASE: Nephrotic syndrome 11 (NPHS11) [MIM:616730]: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. NPHS11 is an autosomal recessive, steroid-resistant and progressive form with onset in the first decade of life. {ECO:0000269|PubMed:26411495, ECO:0000269|PubMed:30179222}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Ovarian dysgenesis 6 (ODG6) [MIM:618078]: A form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. ODG6 is an autosomal recessive condition. {ECO:0000269|PubMed:26485283, ECO:0000269|PubMed:34707299}. Note=The disease may be caused by variants affecting the gene represented in this entry.; DISEASE: Galloway-Mowat syndrome 7 (GAMOS7) [MIM:618348]: A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. GAMOS7 inheritance is autosomal recessive. {ECO:0000269|PubMed:28117080, ECO:0000269|PubMed:28280135, ECO:0000269|PubMed:30179222}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance (PubMed:12552102, PubMed:15229283, PubMed:30179222). Required for the assembly of peripheral proteins into the NPC (PubMed:12552102, PubMed:15229283). May anchor NUP62 to the NPC (PubMed:15229283). Involved in nephrogenesis (PubMed:30179222). {ECO:0000269|PubMed:12552102, ECO:0000269|PubMed:15229283, ECO:0000269|PubMed:30179222}.
uniprot
proteins
mass_dalton
106374
uniprot
proteins
protein_family
Nucleoporin Nup84/Nup107 family
uniprot
proteins
pubmed
11564755
uniprot
proteins
pubmed
11684705
uniprot
proteins
pubmed
12552102
uniprot
proteins
pubmed
12802065
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15229283
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26411495
uniprot
proteins
pubmed
26485283
uniprot
proteins
pubmed
28117080
uniprot
proteins
pubmed
28280135
uniprot
proteins
pubmed
30179222
uniprot
proteins
pubmed
34707299
uniprot
proteins
sequence_length
925
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus membrane {ECO:0000269|PubMed:11564755, ECO:0000269|PubMed:12802065, ECO:0000269|PubMed:15229283, ECO:0000269|PubMed:26411495}. Nucleus, nuclear pore complex {ECO:0000269|PubMed:11564755, ECO:0000269|PubMed:12802065, ECO:0000269|PubMed:15229283, ECO:0000269|PubMed:26411495}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:11564755}. Note=Located on both the cytoplasmic and nuclear sides of the NPC core structure (PubMed:11564755). During mitosis, localizes to the kinetochores (PubMed:11564755). Dissociates from the disassembled NPC structure late during prophase of mitosis (PubMed:11564755). {ECO:0000269|PubMed:11564755}.
uniprot
proteins