PRKCSH

Glucosidase 2 subunit beta is an enzyme that in humans is encoded by the PRKCSH gene.^[5]

PRKCSH
Identifiers
Aliases	PRKCSH, AGE-R2, G19P1, PCLD, PKCSH, PLD1, GIIB, VASAP-60, protein kinase C substrate 80K-H, PCLD1
External IDs	OMIM: 177060; MGI: 107877; HomoloGene: 2056; GeneCards: PRKCSH; OMA:PRKCSH - orthologs
Gene location (Human) Chr. Chromosome 19 (human)[1] Band 19p13.2 Start 11,435,284 bp[1] End 11,450,968 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9 A3|9 8.04 cM Start 21,914,102 bp[2] End 21,925,518 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in stromal cell of endometrium beta cell olfactory bulb left ovary right ovary C1 segment granulocyte right uterine tube body of pancreas body of uterus Top expressed in choroid plexus of fourth ventricle saccule yolk sac gastrula calvaria otic vesicle epiblast right kidney decidua somite More reference expression data BioGPS More reference expression data
Gene ontology Molecular function calcium ion binding phosphoprotein binding transmembrane transporter binding metal ion binding protein kinase C binding protein binding Cellular component endoplasmic reticulum lumen intracellular anatomical structure endoplasmic reticulum glucosidase II complex intracellular membrane-bounded organelle Biological process N-glycan processing intracellular signal transduction post-translational protein modification protein folding Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5589 19089 Ensembl ENSG00000130175 ENSMUSG00000003402 UniProt P14314 O08795 RefSeq (mRNA) NM_001001329 NM_001289102 NM_001289103 NM_001289104 NM_002743 NM_001379608 NM_001379609 NM_001293650 NM_001293651 NM_008925 RefSeq (protein) NP_001001329 NP_001276031 NP_001276032 NP_001276033 NP_002734 NP_001366537 NP_001366538 NP_001280579 NP_001280580 NP_032951 Location (UCSC) Chr 19: 11.44 – 11.45 Mb Chr 9: 21.91 – 21.93 Mb PubMed search [3] [4]
Wikidata
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This gene encodes the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum (ER). This protein is an acidic phospho-protein known to be a substrate for protein kinase C. Mutations in this gene have been associated with the autosomal dominant polycystic liver disease (PCLD). Alternatively spliced transcript variants encoding distinct isoforms have been observed.^[5]