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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
  • Glucosidase 2 Subunit Beta 2 3
  • Hepatocystin 2 3
  • G19P1 3 4
  • PKCSH 3 4
  • Protein Kinase C Substrate, 80 Kda Protein 3
  • Glucosidase II Beta Subunit 2
  • Polycystic Liver Disease 2
  • AGE-Binding Receptor 2 3
  • 80K-H Protein 4
  • VASAP-60 3
  • AGE-R2 3
  • PCLD1 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 1 and Polycystic Liver Disease. Among its related pathways are Protein processing in endoplasmic reticulum 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

Additional gene information for PRKCSH Gene

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

Genomics for PRKCSH Gene

Regulatory Elements for PRKCSH Gene

Enhancers for PRKCSH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19H011531 1.5 FANTOM5 Ensembl ENCODE 29 +97.2 97182 1 PKNOX1 ATF1 ZNF493 ZFP64 FOS ZNF202 ZC3H11A REST ZNF623 ZNF518A ZNF627 ZNF136 ILF3 ZNF442 ZNF844 ZNF625 ZNF44 KRI1 ZNF20 ZNF763
GH19H011596 1.1 ENCODE 26.6 +162.2 162244 2 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 YBX1 ZNF2 YY1 ZNF136 ZNF627 ZNF20 ZNF564 ZNF700 ZNF44 ILF3 ZNF799 ZNF763 PRKCSH
GH19H011924 1.1 ENCODE 22.3 +490.2 490161 3 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 ZNF136 ZNF763 ZNF44 ZNF20 ZNF627 ZNF564 TRIR ZNF799 WDR83OS ZNF625
GH19H011086 1.8 FANTOM5 ENCODE dbSUPER 13.4 -342.9 -342887 11 FEZF1 DMAP1 YY1 SLC30A9 SP3 NFYC MEF2D GLIS1 RCOR2 NBN ILF3 ZNF844 ZNF491 ZNF627 ZNF441 RAVER1 PRKCSH ZNF823 ZNF700 C19orf38
GH19H011639 1 ENCODE 22 +204.8 204784 1 PKNOX1 ARID4B SIN3A ZNF2 GLIS2 ZNF416 KLF7 FOS ATF7 SP3 ZNF20 ILF3 ZNF44 ZNF763 ZNF627 ZNF136 ZNF564 ZNF700 ZNF799 ZNF878
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PRKCSH on UCSC Golden Path with GeneCards custom track

Promoters for PRKCSH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000107181 343 1201 FOXA2 PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF207

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

Post-translational modifications for PRKCSH Gene

  • Ubiquitination at Lys438 and isoforms=2487
  • Glycosylation at isoforms=272, isoforms=2134, Thr287, and Asn476
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PRKCSH Gene

Domains & Families for PRKCSH Gene

Gene Families for PRKCSH Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for PRKCSH Gene

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.

Phenotypes From GWAS Catalog for PRKCSH Gene

Gene Ontology (GO) - Molecular Function for PRKCSH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0005080 protein kinase C binding IPI 15707389
GO:0005509 calcium ion binding IEA --
GO:0044325 ion channel binding IPI 19801576
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PRKCSH: view
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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PRKCSH
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PRKCSH gene
Compartment Confidence
endoplasmic reticulum 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PRKCSH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular NAS 2793184
GO:0005783 endoplasmic reticulum IDA,IEA 19801576
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with PRKCSH: view

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:0006457 protein folding TAS --
GO:0006491 N-glycan processing IEA --
GO:0006807 nitrogen compound metabolic process IEA --
GO:0010977 negative regulation of neuron projection development IEA --
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PRKCSH
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for PRKCSH Gene

NURSA nuclear receptor signaling pathways regulating expression of PRKCSH Gene:

PRKCSH

SOURCE GeneReport for Unigene cluster for PRKCSH Gene:

Hs.610830

Evidence on tissue expression from TISSUES for PRKCSH Gene

  • Nervous system(4.9)
  • Liver(4.8)
  • Lung(4.8)
  • Blood(4.6)
  • Intestine(4.3)
  • Kidney(4.3)
  • Skin(4.1)
  • Spleen(3.8)
  • Eye(3.3)
  • Muscle(2)
  • Stomach(2)
  • Thyroid gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PRKCSH Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • skeletal muscle
  • urinary
Organs:
Head and neck:
  • ear
Thorax:
  • heart
Abdomen:
  • abdominal wall
  • biliary tract
  • kidney
  • liver
General:
  • blood
  • blood vessel
genes like me logo Genes that share expression patterns with PRKCSH: view

Primer 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 33 34
  • 93.4 (n)
cow
(Bos Taurus)
Mammalia PRKCSH 33 34
  • 86.51 (n)
dog
(Canis familiaris)
Mammalia PRKCSH 33 34
  • 85.8 (n)
mouse
(Mus musculus)
Mammalia Prkcsh 33 16 34
  • 82.58 (n)
rat
(Rattus norvegicus)
Mammalia Prkcsh 33
  • 82.48 (n)
oppossum
(Monodelphis domestica)
Mammalia PRKCSH 34
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRKCSH 34
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PRKCSH 34
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prkcsh 33
  • 64.66 (n)
MGC75615 33
zebrafish
(Danio rerio)
Actinopterygii prkcsh 33 34
  • 64.07 (n)
-- 33
fruit fly
(Drosophila melanogaster)
Insecta CG6453 35 33 34
  • 51.67 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004609 33
  • 49.41 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_ZK1307.8 33
  • 47.31 (n)
ZK1307.8 34
  • 34 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GTB1 34
  • 18 (a)
OneToOne
rice
(Oryza sativa)
Liliopsida Os.6899 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2522 34
  • 37 (a)
OneToMany
CSA.7249 34
  • 26 (a)
OneToMany
Species where no ortholog for PRKCSH was found in the sources mined by GeneCards:
  • 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
rs121918519 Pathogenic 11,448,604(+) ACAGC(C/T)AGTGC reference, stop-gained
rs121918520 Pathogenic 11,448,917(+) AGATA(C/G/T)GTCTA reference, synonymous-codon
rs398123688 Pathogenic 11,449,338(+) TCATG(G/T)AGCTG reference, stop-gained
rs794727187 Pathogenic 11,449,285(+) CGGGA(-/AAGA)GACCA reference, frameshift-variant
rs115820640 Likely benign 11,435,665(+) CTGGA(C/G/T)AAGAG intron-variant, upstream-variant-2KB, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
esv3556031 CNV deletion 23714750
nsv519802 CNV loss 19592680
nsv833752 CNV loss 17160897

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

Human Gene Mutation Database (HGMD)
PRKCSH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRKCSH

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

Disorders for PRKCSH Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
polycystic liver disease 1
  • polycystic liver disease
polycystic liver disease
  • isolated autosomal dominant polycystic liver disease
liver disease
  • disorder of liver
polycystic kidney disease 4, with or without hepatic disease
  • pkd3
familial hemiplegic migraine
  • fhm
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GLU2B_HUMAN
  • Polycystic liver disease 1 (PCLD1) [MIM:174050]: An autosomal dominant 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 (American journal of human genetics 2003) 2 3 4 22 60
  2. PRKCSH genetic mutation was not found in Taiwanese patients with polycystic liver disease. (PMID: 19308730) Yang AM … Yang WS (Digestive diseases and sciences 2010) 3 22 45 60
  3. Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease. (PMID: 16835903) Waanders E … Drenth JP (Human mutation 2006) 3 22 45 60
  4. Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease. (PMID: 12577059) Drenth JP … Jansen JB (Nature genetics 2003) 3 4 22 60
  5. A 3-Mb region for the familial hemiplegic migraine locus on 19p13.1-p13.2: exclusion of PRKCSH as a candidate gene. Dutch Migraine Genetic Research Group. (PMID: 9043864) Ophoff RA … Frants RR (European journal of human genetics : EJHG 1996) 3 4 22 60

Products for PRKCSH Gene

Sources for PRKCSH Gene

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