CNPY3
entrez
10695
canonical
uniprot
Q9BT09
canonical
ensembl
ENSG00000137161
resolver
ensp
ENSP00000361926
resolver
ensp
ENSP00000594736
resolver
ensp
ENSP00000691527
resolver
ensp
ENSP00000784249
resolver
genesymbol
CNPY3
resolver
genesymbol_syn
CTG4A
resolver
genesymbol_syn
ERDA5
resolver
genesymbol_syn
PRAT4A
resolver
genesymbol_syn
TNRC5
resolver
hgnc
HGNC:11968
resolver
uniprot
O15412
resolver
uniprot
Q0P6I2
resolver
uniprot
Q8NF54
resolver
uniprot
Q8WTU8
resolver
uniprot
Q9P0F2
resolver
uniprot_entry
CNPY3_HUMAN
resolver
uniprot_sec
O15412
resolver
uniprot_sec
Q0P6I2
resolver
uniprot_sec
Q8NF54
resolver
uniprot_sec
Q8WTU8
resolver
uniprot_sec
Q9P0F2
resolver
amino_acid_sequence
MDSMPEPASRCLLLLPLLLLLLLLLPAPELGPSQAGAEENDWVRLPSKCEVCKYVAVELKSAFEETGKTKEVIGTGYGILDQKASGVKYTKSDLRLIEVTETICKRLLDYSLHKERTGSNRFAKGMSETFETLHNLVHKGVKVVMDIPYELWNETSAEVADLKKQCDVLVEEFEEVIEDWYRNHQEEDLTEFLCANHVLKGKDTSCLAEQWSGKKGDTAALGGKKSKKKSSRAKAAGGRSSSSKQRKELGGLEGDPSPEEDEGIQKASPLTHSPPDEL
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 60 (DEE60) [MIM:617929]: A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE60 is an autosomal recessive condition characterized by onset of seizures in the first months of life. {ECO:0000269|PubMed:29394991}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Toll-like receptor (TLR)-specific co-chaperone for HSP90B1. Required for proper TLR folding, except that of TLR3, and hence controls TLR exit from the endoplasmic reticulum. Consequently, required for both innate and adaptive immune responses (By similarity). {ECO:0000250}.
uniprot
proteins
mass_dalton
30748
uniprot
proteins
protein_family
Canopy family
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
20865800
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
29394991
uniprot
proteins
pubmed
9225980
uniprot
proteins
sequence_length
278
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000250}.
uniprot
proteins