NUP85
entrez
79902
canonical
uniprot
Q9BW27
canonical
ensembl
ENSG00000125450
resolver
ensp
ENSP00000245544
resolver
ensp
ENSP00000445855
resolver
ensp
ENSP00000462749
resolver
ensp
ENSP00000463382
resolver
ensp
ENSP00000670983
resolver
ensp
ENSP00000693109
resolver
enst
ENST00000540768
resolver
enst
ENST00000579298
resolver
genesymbol
NUP85
resolver
genesymbol_syn
NUP75
resolver
genesymbol_syn
PCNT1
resolver
hgnc
HGNC:8734
resolver
uniprot
B4DMQ3
resolver
uniprot
B4DPW1
resolver
uniprot
F5H0W7
resolver
uniprot
J3KT10
resolver
uniprot
Q8NDI4
resolver
uniprot
Q9H9U1
resolver
uniprot_entry
F5H0W7_HUMAN
resolver
uniprot_entry
J3KT10_HUMAN
resolver
uniprot_entry
NUP85_HUMAN
resolver
uniprot_sec
B4DMQ3
resolver
uniprot_sec
B4DPW1
resolver
uniprot_sec
Q8NDI4
resolver
uniprot_sec
Q9H9U1
resolver
amino_acid_sequence
MEELDGEPTVTLIPGVNSKKNQMYFDWGPGEMLVCETSFNKKEKSEMVPSCPFIYIIRKDVDVYSQILRKLFNESHGIFLGLQRIDEELTGKSRKSQLVRVSKNYRSVIRACMEEMHQVAIAAKDPANGRQFSSQVSILSAMELIWNLCEILFIEVAPAGPLLLHLLDWVRLHVCEVDSLSADVLGSENPSKHDSFWNLVTILVLQGRLDEARQMLSKEADASPASAGICRIMGDLMRTMPILSPGNTQTLTELELKWQHWHEECERYLQDSTFATSPHLESLLKIMLGDEAALLEQKELLSNWYHFLVTRLLYSNPTVKPIDLHYYAQSSLDLFLGGESSPEPLDNILLAAFEFDIHQVIKECSIALSNWWFVAHLTDLLDHCKLLQSHNLYFGSNMREFLLLEYASGLFAHPSLWQLGVDYFDYCPELGRVSLELHIERIPLNTEQKALKVLRICEQRQMTEQVRSICKILAMKAVRNNRLGSALSWSIRAKDAAFATLVSDRFLRDYCERGCFSDLDLIDNLGPAMMLSDRLTFLGKYREFHRMYGEKRFADAASLLLSLMTSRIAPRSFWMTLLTDALPLLEQKQVIFSAEQTYELMRCLEDLTSRRPVHGESDTEQLQDDDIETTKVEMLRLSLARNLARAIIREGSLEGS
uniprot
proteins
disease_involvement
DISEASE: Nephrotic syndrome 17 (NPHS17) [MIM:618176]: 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 that progresses to end-stage renal failure. NPHS17 is an autosomal recessive, steroid-resistant progressive form with onset in the first decade of life. {ECO:0000269|PubMed:30179222}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Essential component of the nuclear pore complex (NPC) that seems to be required for NPC assembly and maintenance (PubMed:12718872). As part of the NPC Nup107-160 subcomplex plays a role in RNA export and in tethering NUP96/Nup98 and NUP153 to the nucleus (PubMed:12718872). The Nup107-160 complex seems to be required for spindle assembly during mitosis (PubMed:16807356). NUP85 is required for membrane clustering of CCL2-activated CCR2 (PubMed:15995708). Seems to be involved in CCR2-mediated chemotaxis of monocytes and may link activated CCR2 to the phosphatidyl-inositol 3-kinase-Rac-lammellipodium protrusion cascade (PubMed:15995708). Involved in nephrogenesis (PubMed:30179222). {ECO:0000269|PubMed:12718872, ECO:0000269|PubMed:15995708, ECO:0000269|PubMed:16807356, ECO:0000269|PubMed:30179222}.
uniprot
proteins
mass_dalton
75019
uniprot
proteins
protein_family
Nucleoporin Nup85 family
uniprot
proteins
pubmed
12196509
uniprot
proteins
pubmed
12718872
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15146057
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15995708
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
16807356
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
30179222
uniprot
proteins
sequence_length
656
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus, nuclear pore complex {ECO:0000269|PubMed:12196509, ECO:0000269|PubMed:12718872}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:12718872, ECO:0000269|PubMed:15146057, ECO:0000269|PubMed:16807356}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:16807356}. Cytoplasm {ECO:0000269|PubMed:15995708}. Nucleus membrane {ECO:0000269|PubMed:12196509}. Note=During mitosis, localizes to the kinetochores and spindle poles (PubMed:12718872, PubMed:16807356). Upon CCl2 stimulation translocates from the cytoplasm to the membrane and colocalizes with CCR2 at the front of migrating cells (PubMed:15995708). {ECO:0000269|PubMed:12718872, ECO:0000269|PubMed:15995708, ECO:0000269|PubMed:16807356}.
uniprot
proteins