PRKCSH
entrez
5589
canonical
uniprot
P14314
canonical
ensembl
ENSG00000130175
resolver
ensp
ENSP00000465461
resolver
ensp
ENSP00000465489
resolver
ensp
ENSP00000466012
resolver
ensp
ENSP00000466134
resolver
ensp
ENSP00000503163
resolver
ensp
ENSP00000523048
resolver
ensp
ENSP00000523049
resolver
ensp
ENSP00000523051
resolver
ensp
ENSP00000523056
resolver
ensp
ENSP00000523060
resolver
ensp
ENSP00000523061
resolver
ensp
ENSP00000523062
resolver
ensp
ENSP00000523063
resolver
ensp
ENSP00000523067
resolver
ensp
ENSP00000586460
resolver
ensp
ENSP00000788433
resolver
enst
ENST00000592741
resolver
enst
ENST00000677123
resolver
enst
ENST00000852989
resolver
enst
ENST00000852990
resolver
enst
ENST00000852997
resolver
enst
ENST00000853001
resolver
enst
ENST00000853002
resolver
enst
ENST00000853003
resolver
enst
ENST00000853004
resolver
enst
ENST00000853008
resolver
enst
ENST00000916401
resolver
genesymbol
PRKCSH
resolver
genesymbol_syn
G19P1
resolver
hgnc
HGNC:9411
resolver
uniprot
A8K318
resolver
uniprot
B4DJQ5
resolver
uniprot
K7ELL7
resolver
uniprot
Q96BU9
resolver
uniprot
Q96D06
resolver
uniprot
Q9P0W9
resolver
uniprot_entry
B4DJQ5_HUMAN
resolver
uniprot_entry
GLU2B_HUMAN
resolver
uniprot_entry
K7ELL7_HUMAN
resolver
uniprot_sec
A8K318
resolver
uniprot_sec
Q96BU9
resolver
uniprot_sec
Q96D06
resolver
uniprot_sec
Q9P0W9
resolver
amino_acid_sequence
MLLPLLLLLPMCWAVEVKRPRGVSLTNHHFYDESKPFTCLDGSATIPFDQVNDDYCDCKDGSDEPGTAACPNGSFHCTNTGYKPLYIPSNRVNDGVCDCCDGTDEYNSGVICENTCKEKGRKERESLQQMAEVTREGFRLKKILIEDWKKAREEKQKKLIELQAGKKSLEDQVEMLRTVKEEAEKPEREAKEQHQKLWEEQLAAAKAQQEQELAADAFKELDDDMDGTVSVTELQTHPELDTDGDGALSEAEAQALLSGDTQTDATSFYDRVWAAIRDKYRSEALPTDLPAPSAPDLTEPKEEQPPVPSSPTEEEEEEEEEEEEEAEEEEEEEDSEEAPPPLSPPQPASPAEEDKMPPYDEQTQAFIDAAQEARNKFEEAERSLKDMEESIRNLEQEISFDFGPNGEFAYLYSQCYELTTNEYVYRLCPFKLVSQKPKLGGSPTSLGTWGSWIGPDHDKFSAMKYEQGTGCWQGPNRSTTVRLLCGKETMVTSTTEPSRCEYLMELMTPAACPEPPPEAPTEDDHDEL
uniprot
proteins
disease_involvement
DISEASE: Polycystic liver disease 1 with or without kidney cysts (PCLD1) [MIM:174050]: An autosomal dominant hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts. A subset of patients may develop kidney cysts that usually do not result in clinically significant renal disease. {ECO:0000269|PubMed:12529853, ECO:0000269|PubMed:12577059, ECO:0000269|PubMed:28375157}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Regulatory subunit of glucosidase II that cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2) oligosaccharide precursor of immature glycoproteins (PubMed:10929008). Required for efficient PKD1/Polycystin-1 biogenesis and trafficking to the plasma membrane of the primary cilia (By similarity). {ECO:0000250|UniProtKB:O08795, ECO:0000269|PubMed:10929008}.
uniprot
proteins
mass_dalton
59425
uniprot
proteins
pathway_participation
PATHWAY: Glycan metabolism; N-glycan metabolism. {ECO:0000269|PubMed:10929008}.
uniprot
proteins
pubmed
10929008
uniprot
proteins
pubmed
12529853
uniprot
proteins
pubmed
12577059
uniprot
proteins
pubmed
12665801
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26091039
uniprot
proteins
pubmed
2793184
uniprot
proteins
pubmed
28375157
uniprot
proteins
pubmed
9043864
uniprot
proteins
sequence_length
528
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000255|PROSITE-ProRule:PRU10138, ECO:0000305|PubMed:10929008}.
uniprot
proteins