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Aliases for PRKCSH Gene

Aliases for PRKCSH Gene

  • Protein Kinase C Substrate 80K-H 2 3 5
  • Protein Kinase C Substrate 60.1 KDa Protein Heavy Chain 3 4
  • Advanced Glycation End-Product Receptor 2 2 3
  • Glucosidase II Subunit Beta 3 4
  • Hepatocystin 2 3
  • G19P1 3 4
  • PKCSH 3 4
  • Protein Kinase C Substrate, 80 Kda Protein 3
  • Glucosidase II Beta Subunit 2
  • Glucosidase 2 Subunit Beta 2
  • Polycystic Liver Disease 2
  • AGE-Binding Receptor 2 3
  • 80K-H Protein 4
  • VASAP-60 3
  • AGE-R2 3
  • GIIB 3
  • PCLD 3
  • PLD1 3

External Ids for PRKCSH Gene

Previous HGNC Symbols for PRKCSH Gene

  • G19P1
  • PCLD
  • PLD1

Previous GeneCards Identifiers for PRKCSH Gene

  • GC19P011677
  • GC19P011769
  • GC19P011391
  • GC19P011407
  • GC19P011546
  • GC19P011121

Summaries for PRKCSH Gene

Entrez Gene Summary for PRKCSH 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]

GeneCards Summary for PRKCSH Gene

PRKCSH (Protein Kinase C Substrate 80K-H) is a Protein Coding gene. Diseases associated with PRKCSH include polycystic liver disease and liver disease. Among its related pathways are Metabolism and Transport to the Golgi and subsequent modification. GO annotations related to this gene include calcium ion binding and ion channel binding.

UniProtKB/Swiss-Prot for PRKCSH Gene

  • Regulatory subunit of glucosidase II.

Gene Wiki entry for PRKCSH Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRKCSH Gene

Genomics for PRKCSH Gene

Regulatory Elements for PRKCSH Gene

Promoters for PRKCSH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PRKCSH on UCSC Golden Path with GeneCards custom track

Genomic Location for PRKCSH Gene

Chromosome:
19
Start:
11,435,257 bp from pter
End:
11,450,968 bp from pter
Size:
15,712 bases
Orientation:
Plus strand

Genomic View for PRKCSH Gene

Genes around PRKCSH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRKCSH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRKCSH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRKCSH Gene

Proteins for PRKCSH Gene

  • Protein details for PRKCSH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P14314-GLU2B_HUMAN
    Recommended name:
    Glucosidase 2 subunit beta
    Protein Accession:
    P14314
    Secondary Accessions:
    • A8K318
    • Q96BU9
    • Q96D06
    • Q9P0W9

    Protein attributes for PRKCSH Gene

    Size:
    528 amino acids
    Molecular mass:
    59425 Da
    Quaternary structure:
    • Heterodimer of a catalytic alpha subunit (GANAB) and a beta subunit (PRKCSH). Binds glycosylated PTPRC (By similarity).
    SequenceCaution:
    • Sequence=AAH15154.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PRKCSH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PRKCSH Gene

Proteomics data for PRKCSH Gene at MOPED

Post-translational modifications for PRKCSH Gene

  • Ubiquitination at Lys 438 and Lys 487
  • Glycosylation at Asn 72, Thr 134, Thr 287, and Asn 476
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PRKCSH Gene

Domains & Families for PRKCSH Gene

Graphical View of Domain Structure for InterPro Entry

P14314

UniProtKB/Swiss-Prot:

GLU2B_HUMAN :
  • Contains 2 EF-hand domains.
Domain:
  • Contains 2 EF-hand domains.
  • Contains 1 PRKCSH domain.
genes like me logo Genes that share domains with PRKCSH: view

Function for PRKCSH Gene

Molecular function for PRKCSH Gene

GENATLAS Biochemistry:
protein kinase C substrate 80K-H (substrate for protein kinase C)
UniProtKB/Swiss-Prot Function:
Regulatory subunit of glucosidase II.
genes like me logo Genes that share phenotypes with PRKCSH: view

Human Phenotype Ontology for PRKCSH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PRKCSH Gene

MGI Knock Outs for PRKCSH:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for PRKCSH Gene

Localization for PRKCSH Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRKCSH Gene

Endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PRKCSH Gene COMPARTMENTS Subcellular localization image for PRKCSH gene
Compartment Confidence
endoplasmic reticulum 5

No data available for Gene Ontology (GO) - Cellular Components for PRKCSH Gene

Pathways & Interactions for PRKCSH Gene

genes like me logo Genes that share pathways with PRKCSH: view

UniProtKB/Swiss-Prot P14314-GLU2B_HUMAN

  • Pathway: Glycan metabolism; N-glycan metabolism.

Interacting Proteins for PRKCSH Gene

Gene Ontology (GO) - Biological Process for PRKCSH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001889 liver development IEA --
GO:0010977 negative regulation of neuron projection development IEA --
GO:0018279 protein N-linked glycosylation via asparagine TAS --
GO:0035556 intracellular signal transduction NAS 2793184
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with PRKCSH: view

No data available for SIGNOR curated interactions for PRKCSH Gene

Drugs & Compounds for PRKCSH Gene

(1) Drugs for PRKCSH Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cellobiose Experimental Pharma 0
genes like me logo Genes that share compounds with PRKCSH: view

Transcripts for PRKCSH Gene

Unigene Clusters for PRKCSH Gene

Protein kinase C substrate 80K-H:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PRKCSH Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c · 5d · 5e ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c ^ 12a · 12b ^ 13a · 13b ^ 14 ^
SP1: - - - -
SP2: - - - -
SP3: - - - -
SP4: - - - - - - - - - - - - - - - - - -
SP5:
SP6:
SP7:
SP8:
SP9: - -
SP10: - - -
SP11: - - - - -
SP12: - -
SP13: - - - - - -
SP14: - - - - - - - - - - - - - - - - - - -
SP15: - - - - - -
SP16: - - - - - - - - - - - - - -
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:

ExUns: 15 ^ 16a · 16b · 16c ^ 17a · 17b · 17c ^ 18a · 18b ^ 19a · 19b · 19c · 19d ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24
SP1:
SP2:
SP3:
SP4: - - - - - - - - - - - - -
SP5: - - - -
SP6: - - -
SP7: - - - -
SP8: - -
SP9:
SP10:
SP11:
SP12:
SP13:
SP14: - - - - - - - - - -
SP15:
SP16:
SP17:
SP18:
SP19: -
SP20:
SP21:
SP22:
SP23:

Relevant External Links for PRKCSH Gene

GeneLoc Exon Structure for
PRKCSH
ECgene alternative splicing isoforms for
PRKCSH

Expression for PRKCSH Gene

mRNA expression in normal human tissues for PRKCSH Gene

Protein differential expression in normal tissues from HIPED for PRKCSH Gene

This gene is overexpressed in Lymph node (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PRKCSH Gene



SOURCE GeneReport for Unigene cluster for PRKCSH Gene Hs.610830

genes like me logo Genes that share expression patterns with PRKCSH: view

Protein tissue co-expression partners for PRKCSH Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PRKCSH Gene

Orthologs for PRKCSH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PRKCSH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PRKCSH 36
  • 99 (a)
OneToOne
PRKCSH 35
  • 93.4 (n)
  • 92.12 (a)
cow
(Bos Taurus)
Mammalia PRKCSH 35
  • 86.51 (n)
  • 88.52 (a)
PRKCSH 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PRKCSH 36
  • 88 (a)
OneToOne
PRKCSH 35
  • 85.8 (n)
  • 88.72 (a)
mouse
(Mus musculus)
Mammalia Prkcsh 36
  • 87 (a)
OneToOne
Prkcsh 16
Prkcsh 35
  • 82.58 (n)
  • 86.11 (a)
oppossum
(Monodelphis domestica)
Mammalia PRKCSH 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRKCSH 36
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Prkcsh 35
  • 82.48 (n)
  • 87.35 (a)
lizard
(Anolis carolinensis)
Reptilia PRKCSH 36
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75615 35
prkcsh 35
  • 64.66 (n)
  • 63.05 (a)
zebrafish
(Danio rerio)
Actinopterygii prkcsh 36
  • 60 (a)
OneToOne
-- 35
prkcsh 35
  • 64.07 (n)
  • 63.93 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004609 35
  • 49.41 (n)
  • 41.54 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6453 35
  • 51.67 (n)
  • 42 (a)
CG6453 37
  • 38 (a)
CG6453 36
  • 36 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_ZK1307.8 35
  • 47.31 (n)
  • 40.13 (a)
ZK1307.8 36
  • 34 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GTB1 36
  • 18 (a)
OneToOne
rice
(Oryza sativa)
Liliopsida Os.6899 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2522 36
  • 37 (a)
OneToMany
CSA.7249 36
  • 26 (a)
OneToMany
Species with no ortholog for PRKCSH:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PRKCSH Gene

ENSEMBL:
Gene Tree for PRKCSH (if available)
TreeFam:
Gene Tree for PRKCSH (if available)

Paralogs for PRKCSH Gene

No data available for Paralogs for PRKCSH Gene

Variants for PRKCSH Gene

Sequence variations from dbSNP and Humsavar for PRKCSH Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs10406672 - 11,437,900(+) TGGCA(A/G)CTTCC reference, missense
rs11557488 - 11,447,460(+) TTCCA(A/C/G)CACCT reference, missense
rs35847588 - 11,447,697(+) GGAGG(C/G)CCCAC intron-variant, reference, missense
rs34085 -- 11,440,373(-) agatc(A/G)agacc intron-variant
rs313624 -- 11,442,095(-) ACCCC(C/T)AAACG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PRKCSH Gene

Variant ID Type Subtype PubMed ID
nsv833752 CNV Loss 17160897
nsv519802 CNV Loss 19592680
nsv911062 CNV Loss 21882294
dgv3731n71 CNV Loss 21882294
nsv911065 CNV Loss 21882294

Variation tolerance for PRKCSH Gene

Residual Variation Intolerance Score: 39% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.60; 96.53% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PRKCSH Gene

HapMap Linkage Disequilibrium report
PRKCSH
Human Gene Mutation Database (HGMD)
PRKCSH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRKCSH Gene

Disorders for PRKCSH Gene

MalaCards: The human disease database

(5) MalaCards diseases for PRKCSH Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
polycystic liver disease
  • isolated autosomal dominant polycystic liver disease
liver disease
  • disorder of liver
familial hemiplegic migraine
  • migraine, familial hemiplegic
hemiplegic migraine
  • migraine hemiplegic
acid-labile subunit, deficiency of
  • acid-labile subunit deficiency
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GLU2B_HUMAN
  • Polycystic liver disease (PCLD) [MIM:174050]: A hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts. {ECO:0000269 PubMed:12529853, ECO:0000269 PubMed:12577059}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PRKCSH

Genetic Association Database (GAD)
PRKCSH
Human Genome Epidemiology (HuGE) Navigator
PRKCSH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PRKCSH
genes like me logo Genes that share disorders with PRKCSH: view

No data available for Genatlas for PRKCSH Gene

Publications for PRKCSH Gene

  1. Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease. (PMID: 12529853) Li A. … Somlo S. (Am. J. Hum. Genet. 2003) 2 3 4 23 67
  2. PRKCSH genetic mutation was not found in Taiwanese patients with polycystic liver disease. (PMID: 19308730) Yang A.M. … Yang W.S. (Dig. Dis. Sci. 2010) 3 23
  3. PRKCSH/80K-H, the protein mutated in polycystic liver disease, protects polycystin-2/TRPP2 against HERP-mediated degradation. (PMID: 19801576) Gao H. … Walz G. (Hum. Mol. Genet. 2010) 3 23
  4. Hepatocystin is not secreted in cyst fluid of hepatocystin mutant polycystic liver patients. (PMID: 18419150) Waanders E. … Drenth J.P. (J. Proteome Res. 2008) 3 23
  5. Cysts of PRKCSH mutated polycystic liver disease patients lack hepatocystin but express Sec63p. (PMID: 18224332) Waanders E. … Drenth J.P. (Histochem. Cell Biol. 2008) 3 23

Products for PRKCSH Gene

Sources for PRKCSH Gene

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