PRKCSH (protein kinase C substrate 80K-H)

2003-06-01  

Identity

HGNC
PRKCSH
LOCATION
19p13.2
LOCUSID
5589
ALIAS
AGE-R2,G19P1,GIIB,PCLD,PCLD1,PKCSH,PLD1,VASAP-60
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5589
MIM: 177060
HGNC: 9411
Ensembl: ENSG00000130175

Variants:

dbSNP: 5589
ClinVar: 5589
TCGA: ENSG00000130175
COSMIC: PRKCSH

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130175ENST00000586486A0A0C4DGP4
ENSG00000130175ENST00000587327P14314
ENSG00000130175ENST00000587509K7EKX1
ENSG00000130175ENST00000588269K7EL27
ENSG00000130175ENST00000589126K7EPW7
ENSG00000130175ENST00000589838P14314
ENSG00000130175ENST00000591462P14314
ENSG00000130175ENST00000591946K7EIP3
ENSG00000130175ENST00000592741K7ELL7
ENSG00000130175ENST00000593101K7EJ70

Expression (GTEx)

0
50
100
150
200
250
300
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Protein processing in endoplasmic reticulumKEGGko04141
Protein processing in endoplasmic reticulumKEGGhsa04141
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
N-glycan trimming in the ER and Calnexin/Calreticulin cycleREACTOMER-HSA-532668
Calnexin/calreticulin cycleREACTOMER-HSA-901042
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Advanced glycosylation endproduct receptor signalingREACTOMER-HSA-879415

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
382455722024PRKCSH serves as a potential immunological and prognostic biomarker in pan-cancer.3
382455722024PRKCSH serves as a potential immunological and prognostic biomarker in pan-cancer.3
352543622022Potential role of PRKCSH in lung cancer: bioinformatics analysis and a case study of Nano ZnO.7
352543622022Potential role of PRKCSH in lung cancer: bioinformatics analysis and a case study of Nano ZnO.7
289735242017Liver cyst gene knockout in cholangiocytes inhibits cilium formation and Wnt signaling.2
289735242017Liver cyst gene knockout in cholangiocytes inhibits cilium formation and Wnt signaling.2
263650032016Severe Polycystic Liver Disease Is Not Caused by Large Deletions of the PRKCSH Gene.1
263650032016Severe Polycystic Liver Disease Is Not Caused by Large Deletions of the PRKCSH Gene.1
204089552011Patients with isolated polycystic liver disease referred to liver centres: clinical characterization of 137 cases.56
213710162011PRKCSH GAG trinucleotide repeat is a mutational target in gastric carcinomas with high-level microsatellite instability.2
216810212011Deficiency of hepatocystin induces autophagy through an mTOR-dependent pathway.18
218562692011Secondary, somatic mutations might promote cyst formation in patients with autosomal dominant polycystic liver disease.19
204089552011Patients with isolated polycystic liver disease referred to liver centres: clinical characterization of 137 cases.56
213710162011PRKCSH GAG trinucleotide repeat is a mutational target in gastric carcinomas with high-level microsatellite instability.2
216810212011Deficiency of hepatocystin induces autophagy through an mTOR-dependent pathway.18

Citation

Dessen P

PRKCSH (protein kinase C substrate 80K-H)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/41862/prkcsh-(protein-kinase-c-substrate-80k-h)