PRKCSH (protein kinase C substrate 80K-H)

2003-06-01  

Identity

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

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

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

References

Pubmed IDYearTitleCitations
125770592003Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease.63
125298532003Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease.57
204089552011Patients with isolated polycystic liver disease referred to liver centres: clinical characterization of 137 cases.34
198015762010PRKCSH/80K-H, the protein mutated in polycystic liver disease, protects polycystin-2/TRPP2 against HERP-mediated degradation.26
168359032006Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease.19
18990696200980K-H interacts with inositol 1,4,5-trisphosphate (IP3) receptors and regulates IP3-induced calcium release activity.19
218562692011Secondary, somatic mutations might promote cyst formation in patients with autosomal dominant polycystic liver disease.15
151881772004Molecular characterization of hepatocystin, the protein that is defective in autosomal dominant polycystic liver disease.12
200959892010Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63.12
157073892005Identification of 80K-H as a protein involved in GLUT4 vesicle trafficking.11

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