PRKCSH
Glucosidase II Beta Subunit, Involved in Autosomal Dominant Polycystic Liver Disease
Gene Information Card
| Symbol | PRKCSH |
|---|---|
| Full Name | PRKCSH beta subunit of glucosidase II |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.2 |
| NCBI Gene ID | 5589 ncbi.nlm.nih.gov/gene/5589 |
| Ensembl ID | ENSG00000105669 |
| UniProt ID | P14314 |
| OMIM ID | 177060 |
| HGNC ID | 9411 |
| Aliases | GIIB, G19P1, PCLD, 80K-H, hepatocystin |
Description
PRKCSH encodes the beta subunit of glucosidase II, an enzyme that trims glucose residues from N-linked glycoproteins in the endoplasmic reticulum. The protein, also known as hepatocystin or 80K-H, is involved in protein folding and quality control. Mutations in PRKCSH cause autosomal dominant polycystic liver disease (ADPLD) through loss of function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal dominant polycystic liver disease (ADPLD) | Loss-of-function mutations in PRKCSH impair glucosidase II activity, leading to abnormal protein glycosylation and cyst formation in the liver. | OMIM #174050; ClinVar; multiple case-control studies |
| Polycystic kidney disease (mild) | Rare PRKCSH variants may contribute to renal cysts, though liver phenotype predominates. | ClinVar; limited case reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 14.2 | Medium |
| Kidney | 9.8 | Medium |
| Pancreas | 8.5 | Medium |
| Small intestine | 7.1 | Low |
| Brain | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 12.5 | Hepatocellular carcinoma cell line |
| HEK 293 | 10.1 | Embryonic kidney cells |
| HeLa | 7.8 | Cervical carcinoma cells |
| K-562 | 6.2 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.292C>T (p.Arg98*) | Nonsense | <0.1% in general population | Premature stop; loss of function; associated with ADPLD |
| c.1021G>A (p.Gly341Arg) | Missense | Rare | Impaired protein stability; reduced glucosidase II activity |
| c.1480C>T (p.Arg494Trp) | Missense | Rare | Disrupts interaction with catalytic alpha subunit |
Mutation functional classification
Loss of Function (LOF)
Most PRKCSH mutations in ADPLD are loss-of-function (nonsense, frameshift, splice-site), leading to haploinsufficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not established; disease mechanism is haploinsufficiency rather than dominant-negative.
View complete mutation data：
Gene Ontology (GO)
| • glucosidase II complex | • endoplasmic reticulum |
| • protein N-linked glycosylation | • calcium ion binding |
| • mannosyl-oligosaccharide glucosidase activity |
Pathways
• N-glycan biosynthesis (Reactome: R-HSA-446203)
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
Protein Summary
The PRKCSH protein (hepatocystin, 80K-H) is the non-catalytic beta subunit of glucosidase II. It is a soluble ER-resident protein that binds calcium and is required for the proper folding and quality control of N-glycosylated proteins. Loss of function leads to polycystic liver disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRKCSH Knockout HEK293 Cell Line | EDJ-KQ2635 | Human | 5589 | Details Get a Quote |
| PRKCSH Knockout A-549 Cell Line | EDJ-KQ23387 | Human | 5589 | Details Get a Quote |
| PRKCSH Knockout HCT 116 Cell Line | EDJ-KQ23388 | Human | 5589 | Details Get a Quote |
| PRKCSH Knockout HeLa Cell Line | EDJ-KQ23389 | Human | 5589 | Details Get a Quote |
