PRKCSH

Protein identityUniProt · HPA

UniProt accession

P14314

Gene

PRKCSH

Ensembl

ENSG00000130175

Chromosome

19

Canonical length

528 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins

Subcellular location

Endoplasmic reticulum

Secretome location

Intracellular and membrane

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

528 residues, UniProt reviewed canonical sequence.

>P14314|PRKCSH
     1  MLLPLLLLLP MCWAVEVKRP RGVSLTNHHF YDESKPFTCL DGSATIPFDQ VNDDYCDCKD
    61  GSDEPGTAAC PNGSFHCTNT GYKPLYIPSN RVNDGVCDCC DGTDEYNSGV ICENTCKEKG
   121  RKERESLQQM AEVTREGFRL KKILIEDWKK AREEKQKKLI ELQAGKKSLE DQVEMLRTVK
   181  EEAEKPEREA KEQHQKLWEE QLAAAKAQQE QELAADAFKE LDDDMDGTVS VTELQTHPEL
   241  DTDGDGALSE AEAQALLSGD TQTDATSFYD RVWAAIRDKY RSEALPTDLP APSAPDLTEP
   301  KEEQPPVPSS PTEEEEEEEE EEEEEAEEEE EEEDSEEAPP PLSPPQPASP AEEDKMPPYD
   361  EQTQAFIDAA QEARNKFEEA ERSLKDMEES IRNLEQEISF DFGPNGEFAY LYSQCYELTT
   421  NEYVYRLCPF KLVSQKPKLG GSPTSLGTWG SWIGPDHDKF SAMKYEQGTG CWQGPNRSTT
   481  VRLLCGKETM VTSTTEPSRC EYLMELMTPA ACPEPPPEAP TEDDHDEL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PRKCSH can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.39

Highest tissue expression

176 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PRKCSH.

Disease | AllUniProt

Conditions PRKCSH is implicated in, by any mechanism.

• Polycystic liver disease 1 with or without kidney cysts (PCLD1) MIM:174050

Disease | GeneticClinVar

45 pathogenic / likely-pathogenic of 536 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Polycystic liver disease 1
• Autosomal dominant polycystic liver disease
• PRKCSH-related disorder
• Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.76

gnomAD pLI

0

gnomAD missense Z

0.53

DepMap mean gene effect

-0.18

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• intracellular signal transduction
• liver development
• N-glycan processing

Molecular functions

• calcium ion binding
• phosphoprotein binding
• protein kinase C binding
• transmembrane transporter binding

Cellular components

• endoplasmic reticulum
• endoplasmic reticulum lumen
• glucosidase II complex
• intracellular membrane-bounded organelle

Protein domainsUniProt · Pfam · InterPro

• EF-hand domain
• Mannose-6-phosphate receptor binding domain superfamily
• EF-hand domain pair
• EF-Hand 1, calcium-binding site
• LDL receptor-like superfamily
• Glucosidase II beta subunit-like
• MRH domain
• EF hand
• Glucosidase II beta subunit, N-terminal
• Glucosidase 2 subunit beta-like
• Glucosidase II beta subunit-like
• Glucosidase II beta subunit-like protein

KeywordsUniProt

• Calcium
• Disulfide bond
• Endoplasmic reticulum
• Glycoprotein
• Metal-binding
• Phosphoprotein
• Repeat
• Signal

InteractionsUniProt · HPA

Protein binding partners of PRKCSH in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• MAGT1
• RGS2