Property Summary

NCBI Gene PubMed Count 44
PubMed Score 143.30
PubTator Score 43.98

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (5)

Disease Target Count P-value
atypical teratoid / rhabdoid tumor 4369 5.48642706203841E-8
glioblastoma 5572 9.35361050187787E-8
medulloblastoma, large-cell 6234 8.76503976842985E-7
lung adenocarcinoma 2714 2.18627263212708E-6
psoriasis 6685 1.10909797835576E-5
medulloblastoma 1524 2.57375476597565E-5
primitive neuroectodermal tumor 3031 3.12355319837062E-5
osteosarcoma 7933 0.00145894623003895
pediatric high grade glioma 2712 0.00151479870501283
diabetes mellitus 1663 0.00535138082247094
oligodendroglioma 2849 0.00609215925527891
Rheumatoid Arthritis 1171 0.00988778793044858
ependymoma 2514 0.0102604502211781
Disease Target Count Z-score Confidence
Polycystic kidney disease 54 5.404 2.7
Gastroenteritis 46 5.167 2.6
Disease Target Count
Polycystic liver disease 1 1

Expression

  Differential Expression (13)

Disease log2 FC p
Rheumatoid Arthritis -1.900 0.010
ependymoma 1.500 0.010
oligodendroglioma 1.500 0.006
psoriasis -2.300 0.000
osteosarcoma -1.453 0.001
atypical teratoid / rhabdoid tumor 2.200 0.000
glioblastoma 2.000 0.000
medulloblastoma 1.700 0.000
medulloblastoma, large-cell 2.400 0.000
primitive neuroectodermal tumor 1.300 0.000
diabetes mellitus -1.100 0.005
pediatric high grade glioma 1.100 0.002
lung adenocarcinoma 1.296 0.000

Synonym

Accession P14314 A8K318 Q96BU9 Q96D06 Q9P0W9
Symbols GIIB
PCLD
PLD1
G19P1
PCLD1
PKCSH
AGE-R2
VASAP-60

Gene

PANTHER Protein Class (1)

  Ortholog (12)

Species Source
Chimp OMA Inparanoid
Mouse OMA Inparanoid
Rat OMA Inparanoid
Dog OMA Inparanoid
Horse OMA Inparanoid
Cow OMA Inparanoid
Pig OMA Inparanoid
Opossum OMA Inparanoid
Platypus OMA Inparanoid
Anole lizard OMA Inparanoid
Xenopus OMA Inparanoid
Zebrafish OMA Inparanoid

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.
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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.
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