PRKCSH Gene Summary [Human]
This gene encodes the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum. The encoded protein is an acidic phosphoprotein known to be a substrate for protein kinase C. Mutations in this gene have been associated with the autosomal dominant polycystic liver disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Details
| Type | Protein Coding |
| Official Symbol | PRKCSH |
| Official Name | protein kinase C substrate 80K-H [Source:HGNC Symbol;Acc:HGNC:9411] |
| Ensembl ID | ENSG00000130175 |
| Bio databases IDs | |
| Aliases | protein kinase C substrate 80K-H, advanced glycation end-product receptor 2, glucosidase II beta subunit, glucosidase 2 subunit beta, hepatocystin |
| Synonyms | 80K-H, AGE-R2, G19P1, GIIB, GIIbeta, Glucosidase II beta subunit, Glucosidase II β subunit, GluIIbeta, LOC100503641, PCLD, PCLD1, PKCSH, PLD1, PRKCSH beta subunit of glucosidase II, PRKCSH β subunit of glucosidase II, protein kinase C substrate 80K-H, VASAP-60 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PRKCSH often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein kinase
- binding protein
- protein kinase C binding
- ion channel binding
- LDLa
- calcium ion binding
- phosphoprotein binding
- Glucosidase II beta subunit-like
- enzyme
- protein binding
- RNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- polycystic liver disease 1
- autosomal dominant polycystic liver disease
- cystic kidney disease
- polycystic liver disease 1 with kidney cysts
- polycystic liver disease
- global developmental delay
- hereditary disorder
- polycystic liver disease 1 without kidney cysts
- major depression
role in cell
- cell viability
- expression in
- proliferation
- morphology
- phosphorylation in
- activity
- growth
- binding
- development
- M1 polarization
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- pH resistant lipid raft fraction
- intracellular membrane-bounded organelle
- cell surface
- Nucleus
- Plasma Membrane
- Endoplasmic Reticulum
- endoplasmic reticulum lumen
- perikaryon
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PRKCSH gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- N-glycan processing
- liver development
- intracellular signal transduction
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- intracellular membrane-bounded organelle
- glucosidase II complex
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- protein kinase C binding
- protein binding
- calcium ion binding
- phosphoprotein binding
- ion channel binding