Property Summary

NCBI Gene PubMed Count 44
PubMed Score 143.30
PubTator Score 43.98

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (13)

Disease log2 FC p
Rheumatoid Arthritis -1.900 9.9e-03
ependymoma 1.500 1.0e-02
oligodendroglioma 1.500 6.1e-03
psoriasis -2.300 1.1e-05
osteosarcoma -1.453 1.5e-03
atypical teratoid / rhabdoid tumor 2.200 5.5e-08
glioblastoma 2.000 9.4e-08
medulloblastoma 1.700 2.6e-05
medulloblastoma, large-cell 2.400 8.8e-07
primitive neuroectodermal tumor 1.300 3.1e-05
diabetes mellitus -1.100 5.4e-03
pediatric high grade glioma 1.100 1.5e-03
lung adenocarcinoma 1.296 2.2e-06

Gene RIF (21)

PMID Text
22190034 HIV-1 gp120 is identified to have a physical interaction with protein kinase C substrate 80K-H (PRKCSH) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses
21856269 Polycystic liver disease is recessive at the cellular level, and loss of functional PRKCSH is an important step in cystogenesis.
21681021 The induction of autophagy by hepatocystin deficiency is mediated through mammalian target of rapamycin (mTOR).
21371016 Results provide evidence that mutations at the coding PRKCSH GAG repeat are a target of MSI and are selectively associated with the MSI-H phenotype in gastric carcinomas.
20490454 The common SNPs tested in DDOST, PRKCSH and LGALS3 do not seem to be associated with diabetic micro- or macrovascular complications or with type 1 diabetes in Finnish patients.
20490454 Observational study of gene-disease association. (HuGE Navigator)
20408955 Observational study of gene-disease association. (HuGE Navigator)
20095989 identified a total of 26 novel mutations in PRKCSH (n = 14) and SEC63 (n = 12), including four splice site mutations, eight insertions/ deletions, six non-sense mutations, and eight missense mutations
19801576 PRKCSH functions as a chaperone-like molecule, which prevents endoplasmic reticulum-associated degradation of TRPP2.
19308730 Our results suggest that PRKCSH gene is not a major genetic cause of PCLD and there may be at least another locus responsible for the disease in Taiwan.
19308730 Observational study of gene-disease association. (HuGE Navigator)
19061073 These results indicate that insulin induces dynamic associations between PKCzeta, 80K-H, and munc18c and that 80K-H may act as a key signaling link between PKCzeta and munc18c in live cells.
18990696 80K-H is a novel regulator of IP3R1 activity, and it may contribute to neuronal functions.
18419150 Hepatocystin is not secreted in liver cyst fluids of autosomal dominant polycystic liver disease patients, suggesting that mutant hepatocystin is either not produced or degraded intracellularly.
18224332 the majority of cysts from PRKCSH mutation carriers did not express hepatocystin
16835903 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
15707389 results identify 80K-H as a new player involved in GLUT4 vesicle transport and identify a link between a kinase involved in the insulin signalling cascade, PKCzeta, and a known component of the GLUT4 vesicle trafficking pathway, munc18c
15188177 role of hepatocystin in carbohydrate processing and quality control of newly synthesized glycoproteins in the endoplasmic reticulum
15057895 autosomal dominant polycystic liver disease is genetically heterogeneous
12577059 germline mutations in PRKCSH as the probable cause of autosomal dominant polycystic liver disease
12529853 Mutations in this protein cause isolated autosomal dominant polycystic liver disease.

AA Sequence

MLLPLLLLLPMCWAVEVKRPRGVSLTNHHFYDESKPFTCLDGSATIPFDQVNDDYCDCKDGSDEPGTAAC      1 - 70
PNGSFHCTNTGYKPLYIPSNRVNDGVCDCCDGTDEYNSGVICENTCKEKGRKERESLQQMAEVTREGFRL     71 - 140
KKILIEDWKKAREEKQKKLIELQAGKKSLEDQVEMLRTVKEEAEKPEREAKEQHQKLWEEQLAAAKAQQE    141 - 210
QELAADAFKELDDDMDGTVSVTELQTHPELDTDGDGALSEAEAQALLSGDTQTDATSFYDRVWAAIRDKY    211 - 280
RSEALPTDLPAPSAPDLTEPKEEQPPVPSSPTEEEEEEEEEEEEEAEEEEEEEDSEEAPPPLSPPQPASP    281 - 350
AEEDKMPPYDEQTQAFIDAAQEARNKFEEAERSLKDMEESIRNLEQEISFDFGPNGEFAYLYSQCYELTT    351 - 420
NEYVYRLCPFKLVSQKPKLGGSPTSLGTWGSWIGPDHDKFSAMKYEQGTGCWQGPNRSTTVRLLCGKETM    421 - 490
VTSTTEPSRCEYLMELMTPAACPEPPPEAPTEDDHDEL                                    491 - 528
//

Text Mined References (50)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26091039 2015 A Single Kinase Generates the Majority of the Secreted Phosphoproteome.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23644164 2013 Hepatocystin/80K-H inhibits replication of hepatitis B virus through interaction with HBx protein in hepatoma cell.
23326178 2013 Somatic second-hit mutations leads to polycystic liver diseases.
23209713 2012 Loss of heterozygosity is present in SEC63 germline carriers with polycystic liver disease.
21856269 2011 Secondary, somatic mutations might promote cyst formation in patients with autosomal dominant polycystic liver disease.
21681021 2011 Deficiency of hepatocystin induces autophagy through an mTOR-dependent pathway.
21371016 2011 PRKCSH GAG trinucleotide repeat is a mutational target in gastric carcinomas with high-level microsatellite instability.
21269460 2011 Initial characterization of the human central proteome.
20490454 2010 DDOST, PRKCSH and LGALS3, which encode AGE-receptors 1, 2 and 3, respectively, are not associated with diabetic nephropathy in type 1 diabetes.
20408955 2011 Patients with isolated polycystic liver disease referred to liver centres: clinical characterization of 137 cases.
20095989 2010 Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63.
19801576 2010 PRKCSH/80K-H, the protein mutated in polycystic liver disease, protects polycystin-2/TRPP2 against HERP-mediated degradation.
19308730 2010 PRKCSH genetic mutation was not found in Taiwanese patients with polycystic liver disease.
19061073 2008 80K-H acts as a signaling bridge in intact living cells between PKCzeta and the GLUT4 translocation regulator Munc18c.
18990696 2009 80K-H interacts with inositol 1,4,5-trisphosphate (IP3) receptors and regulates IP3-induced calcium release activity.
18419150 2008 Hepatocystin is not secreted in cyst fluid of hepatocystin mutant polycystic liver patients.
18303019 2008 Getting in and out from calnexin/calreticulin cycles.
18224332 2008 Cysts of PRKCSH mutated polycystic liver disease patients lack hepatocystin but express Sec63p.
16835903 2006 Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15707389 2005 Identification of 80K-H as a protein involved in GLUT4 vesicle trafficking.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
15188177 2004 Molecular characterization of hepatocystin, the protein that is defective in autosomal dominant polycystic liver disease.
15133510 2004 Mutations in SEC63 cause autosomal dominant polycystic liver disease.
15057895 2004 Abnormal hepatocystin caused by truncating PRKCSH mutations leads to autosomal dominant polycystic liver disease.
15057824 2004 The DNA sequence and biology of human chromosome 19.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12841677 Elevated 80K-H protein in breast cancer: a role for FGF-1 stimulation of 80K-H.
12665801 2003 Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.
12577059 2003 Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease.
12529853 2003 Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11047756 2000 Identification of a locus for autosomal dominant polycystic liver disease, on chromosome 19p13.2-13.1.
10929008 2000 The heterodimeric structure of glucosidase II is required for its activity, solubility, and localization in vivo.
10764838 2000 The alpha- and beta-subunits are required for expression of catalytic activity in the hetero-dimeric glucosidase II complex from human liver.
10764837 2000 Two distinct domains of the beta-subunit of glucosidase II interact with the catalytic alpha-subunit.
10684806 2000 Vacuolar system-associated protein-60: a protein characterized from bovine granulosa and luteal cells that is associated with intracellular vesicles and related to human 80K-H and murine beta-glucosidase II.
9846883 1998 Cell activation by glycated proteins. AGE receptors, receptor recognition factors and functional classification of AGEs.
9148925 1997 Identification of the CD45-associated 116-kDa and 80-kDa proteins as the alpha- and beta-subunits of alpha-glucosidase II.
9043864 1996 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.
8910335 1996 Endoplasmic reticulum glucosidase II is composed of a catalytic subunit, conserved from yeast to mammals, and a tightly bound noncatalytic HDEL-containing subunit.
8895530 1996 A pancreatic cancer-specific expression profile.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.
2793184 1989 Isolation of cDNAs encoding a substrate for protein kinase C: nucleotide sequence and chromosomal mapping of the gene for a human 80K protein.
2241894 1990 Purification of two distinct proteins of approximate Mr 80,000 from human epithelial cells and identification as proper substrates for protein kinase C.
1076483 [Debate on prophylaxis].