Homo sapiens Gene: PRKCSH
Summary
InnateDB Gene IDBG-29429.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PRKCSH
Gene Name protein kinase C substrate 80K-H
Synonyms AGE-R2; G19P1; PCLD; PKCSH; PLD1
Species Homo sapiens
Ensembl Gene ENSG00000130175
Encoded Proteins
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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. [provided by RefSeq, Jul 2008]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:11435288-11450968
Strand Forward strand
Band p13.2
Transcripts
ENST00000588269 ENSP00000465889
ENST00000587327 ENSP00000466012
ENST00000593101 ENSP00000465047
ENST00000592741 ENSP00000466134
ENST00000589990
ENST00000591462 ENSP00000465489
ENST00000585325
ENST00000589838 ENSP00000465461
ENST00000587290
ENST00000590098
ENST00000586486 ENSP00000465948
ENST00000585540
ENST00000591510
ENST00000589126 ENSP00000467566
ENST00000587509 ENSP00000465821
ENST00000593053
ENST00000592445
ENST00000592435
ENST00000591946 ENSP00000464835
ENST00000593104
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 37 experimentally validated interaction(s) in this database.
They are also associated with 9 interaction(s) predicted by orthology.
Experimentally validated
Total 37 [view]
Protein-Protein 32 [view]
Protein-DNA 5 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 9 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003723 RNA binding
GO:0005080 protein kinase C binding
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0044325 ion channel binding
GO:0051219 phosphoprotein binding
Biological Process
GO:0001701 in utero embryonic development
GO:0001889 liver development
GO:0006457 protein folding
GO:0006491 N-glycan processing
GO:0006807 nitrogen compound metabolic process
GO:0010977 negative regulation of neuron projection development
GO:0018279 protein N-linked glycosylation via asparagine
GO:0035556 intracellular signal transduction
GO:0043687 post-translational protein modification
GO:0044267 cellular protein metabolic process
GO:0045087 innate immune response
GO:0051291 protein heterooligomerization
GO:0072001 renal system development
Cellular Component
GO:0005622 intracellular
GO:0005783 endoplasmic reticulum
GO:0005788 endoplasmic reticulum lumen
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Advanced glycosylation endproduct receptor signaling pathway
Calnexin/calreticulin cycle pathway
N-glycan trimming in the ER and Calnexin/Calreticulin cycle pathway
Asparagine N-linked glycosylation pathway
Post-translational protein modification pathway
Innate Immune System pathway
Metabolism of proteins pathway
Immune System pathway
KEGG
Protein processing in endoplasmic reticulum pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL K7EIP3 K7EJ70 K7EKX1 K7ELL7 K7EPW7
UniProt Splice Variant
Entrez Gene 5589
UniGene Hs.610830
RefSeq NM_001289103 NM_001289104 NM_001001329 NM_001289102 NM_002743
HUGO HGNC:9411
OMIM 177060
CCDS CCDS74286 CCDS32911 CCDS45977
HPRD 03518
IMGT
EMBL AC008481 AC024575
GenPept
RNA Seq Atlas 5589