PRKCSH - protein kinase C substrate 80K-H Gene
Also Known as GIIB; PCLD; PLD1; G19P1; PCLD1; PKCSH; AGE-R2; VASAP-60
Species: Homo sapiens
About PRKCSH
This gene has 22 transcripts (splice variants), 188 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in ovary (RPKM 74.5), thyroid (RPKM 56.4) and 25 other tissues.
Summary
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]
PRKCSH Products (7)
| mRNA | Protein | Name |
|---|---|---|
| NM_001001329.3 | NP_001001329.1 | glucosidase 2 subunit beta isoform 2 precursor |
| NM_001289102.2 | NP_001276031.1 | glucosidase 2 subunit beta isoform 2 precursor |
| NM_001289103.2 | NP_001276032.1 | glucosidase 2 subunit beta isoform 3 precursor |
| NM_001289104.2 | NP_001276033.1 | glucosidase 2 subunit beta isoform 3 precursor |
| NM_001379608.1 | NP_001366537.1 | glucosidase 2 subunit beta isoform 1 precursor |
| NM_001379609.1 | NP_001366538.1 | glucosidase 2 subunit beta isoform 2 precursor |
| NM_002743.3 | NP_002734.2 | glucosidase 2 subunit beta isoform 1 precursor |
| Molecular Function GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| enables phosphoprotein binding |
IPI
IPI: Inferred from physical interaction
|
19801576 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
10929008 | GOA |
| enables protein kinase C binding |
IPI
IPI: Inferred from physical interaction
|
15707389 | GOA |
| enables transmembrane transporter binding |
IPI
IPI: Inferred from physical interaction
|
19801576 | GOA |
| Biological Process GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| involved in N-glycan processing |
IDA
IDA: Inferred from direct assay
|
10929008 | GOA |
| Cellular Component GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| located in endoplasmic reticulum |
IDA
IDA: Inferred from direct assay
|
19801576 | GOA |
| part of glucosidase II complex |
IDA
IDA: Inferred from direct assay
|
10929008 | GOA |
| part of glucosidase II complex |
IPI
IPI: Inferred from physical interaction
|
10929008 | GOA |
| located in intracellular membrane-bounded organelle |
IMP
IMP: Inferred from mutant phenotype
|
10929008 | GOA |
PRKCSH Protein Structure
PRKCSH-like: Glucosidase II beta subunit-like (10 - 163)
EF-hand_5: EF hand (216 - 236)
EF-hand_5: EF hand (240 - 256)
PRKCSH_1: Glucosidase II beta subunit-like protein (375 - 512)
- 0
- 100
- 200
- 300
- 400
- 500
- 528 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
glucosidase 2 subunit beta |
|
PRKCSH Antibodies
| Art. -Nr. | Produktname | Anwendung | Reactivity |
|---|---|---|---|
| HY-P80405 | Glucosidase 2 subunit beta Antibody (YA409) | WB, IHC-P, ICC/IF | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
|
| Polycystic Liver Disease |
|
|
| Liver Disease |
|
|
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
|
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
|
| Polycystic Kidney Disease |
|
|
| Caroli Disease |
|
|
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
|
| Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
|
| Nephronophthisis-Like Nephropathy 1 |
|
|
| Renal Dysplasia, Cystic |
|
|
| Autosomal Dominant Polycystic Kidney Disease |
|
|
| Cystic Kidney Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | PRKCSH | VGNC | VGNC:76417 |
| Canis familiaris | PRKCSH | VGNC | VGNC:44984 |
| Felis catus | PRKCSH | VGNC | VGNC:69068 |
| Bos taurus | PRKCSH | VGNC | VGNC:33335 |
| Mus musculus | PRKCSH | MGD | MGI:107877 |
| Rattus norvegicus | PRKCSH | RGD | RGD:1309628 |
| Others | PRKCSH | NCBI |