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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 With Or Without Kidney Cysts and Polycystic Liver Disease. Among its related pathways are Advanced glycosylation endproduct receptor signaling and Calnexin/calreticulin cycle. Gene Ontology (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

GeneHancer (GH) Regulatory Elements for PRKCSH Gene

Promoters and enhancers for PRKCSH Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J011434 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 654.8 +0.5 474 2.5 FOXA2 PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 PRKCSH CCDC151 KRI1 ZNF433-AS1 ILF3 ZNF700 ZNF44 ZNF878 SWSAP1 ZNF20
GH19J011447 Promoter/Enhancer 0.8 EPDnew dbSUPER 650.4 +12.3 12279 0.1 EGR2 PRKCSH EPOR ELAVL3 TSPAN16 KANK2 CCDC151 GC19M011460
GH19J011596 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 26.6 +162.2 162244 2.5 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 YBX1 ZNF627 ZNF136 ZNF20 ZNF564 ZNF700 ZNF44 ILF3 ZNF799 ZNF763 PRKCSH
GH19J011577 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE 21.7 +145.6 145591 7.4 HDGF PKNOX1 SMAD1 ARNT YBX1 IRF4 TCF12 CBX5 GATA2 ZNF207 ACP5 ILF3 ZNF136 ZNF564 ZNF44 ZNF627 ZNF442 ZNF700 PRKCSH ZNF799
GH19J010501 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 22.6 -932.7 -932740 3 HDGF FOXA2 PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B KEAP1 ILF3 KRI1 FBXL12 ZNF561 RAVER1 PPAN PRKCSH ZNF562 LOC100419831
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PRKCSH on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PRKCSH gene promoter:
  • MRF-2
  • ER-alpha
  • Pax-5
  • GATA-3
  • USF-1
  • USF1
  • Hlf
  • CREB
  • deltaCREB
  • AP-2alpha

Genomic Locations for PRKCSH Gene

Genomic Locations for PRKCSH Gene
chr19:11,435,257-11,450,968
(GRCh38/hg38)
Size:
15,712 bases
Orientation:
Plus strand
chr19:11,546,109-11,561,783
(GRCh37/hg19)
Size:
15,675 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

  • Glycosylation at posLast=476476, posLast=287287, Thr134, and posLast=7272
  • Ubiquitination at Lys487 and Lys438
  • 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

UniProtKB/Swiss-Prot Function:
Regulatory subunit of glucosidase II.
GENATLAS Biochemistry:
protein kinase C substrate 80K-H (substrate for protein kinase C)

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:0005515 protein binding IEA --
GO:0044325 ion channel binding IPI 19801576
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRKCSH

Clone Products

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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRKCSH

Clone Products

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
Regions:
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

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 34 33
  • 93.4 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PRKCSH 34 33
  • 86.51 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PRKCSH 34 33
  • 85.8 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Prkcsh 16 34 33
  • 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 34 33
  • 64.07 (n)
OneToOne
-- 33
fruit fly
(Drosophila melanogaster)
Insecta CG6453 34 35 33
  • 51.67 (n)
OneToOne
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)
Aminode:
Evolutionary constrained regions (ECRs) for PRKCSH: view image

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 Variation AA Info Type
rs1047200179 uncertain-significance, Polycystic liver disease 11,450,779(+) C/A/T 3_prime_UTR_variant
rs11557488 benign, not specified, Polycystic liver disease 11,447,460(+) G/A/C coding_sequence_variant, missense_variant
rs115820640 likely-benign, Polycystic liver disease 11,435,665(+) C/G/T 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs121918519 pathogenic, Congenital cystic disease of liver 11,448,604(+) C/T coding_sequence_variant, stop_gained
rs121918520 pathogenic, Congenital cystic disease of liver 11,448,917(+) C/G/T coding_sequence_variant, stop_gained, synonymous_variant

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)

Additional Variant Information 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

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

- 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.

Additional Disease Information for PRKCSH

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  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 44 58
  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 44 58
  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 58
  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 58

Products for PRKCSH Gene

Sources for PRKCSH Gene

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