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FLASH GENE
Symbol PRKCSH contributors: mct - updated : 10-09-2011
HGNC name protein kinase C substrate 80K-H
HGNC id 9411
Corresponding disease
PCLD1 polycystic liver disease 1
Location 19p13.2      Physical location : 11.546.268 - 11.561.780
Synonym name
  • AGE-binding receptor 2
  • hepatocystin
  • glucosidase 2 subunit beta
  • Synonym symbol(s) G19P1, AGE-R2
    EC.number 2.7.11.1
    DNA
    TYPE functioning gene
    STRUCTURE 15.51 kb     18 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence
    MAPPING cloned Y linked N status confirmed
    Physical map
    LDLR 19p13.2 low density lipoprotein receptor (familial hypercholesterolemia) FLJ90806 KIAA1518 LOC55908 19p13.2 hepatocellular carcinoma-associated gene TD26 TM4-B 19p13.2 tetraspanin TM4-B RAB3D 19p13.2 RAB3D, member RAS oncogene family LPPR2 19p13.2 lipid phosphate phosphatase-related protein type 2 UNQ501 19p13.2 MBC3205 LOC126075 19p13.2 hypothetical protein LOC126075 FLJ35119 19p13.2 hypothetical protein FLJ35119 EPOR 19p13.2 erythropoietin receptor RGL3 19p13.1-p13.2 erythropoietin receptor MGC20983 19p13.2 hypothetical protein MGC20983 PRKCSH 19p13.2 protein kinase C substrate 80K-H DKFZp547J036 19p13.2 hypothetical protein DKFZp547J036 ELAVL3 19p13.2 ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C) LOC115950 19p13.2 hypothetical protein BC016816 SITPEC 19p13.2 likely ortholog of mouse signaling intermediate in Toll pathway-evolutionarily conserved CNN1 19p13.2 calponin 1, basic, smooth muscle MGC4549 19p13.2 hypothetical protein MGC4549 ACP5 19p13.3-p13.2 acid phosphatase 5, tartrate resistant LOC390889 19 similar to Glyceraldehyde 3-phosphate dehydrogenase (GAPDH) (38 kDa BFA-dependent ADP-ribosylation substrate) (BARS-38) LOC199692 19p13.2 similar to Zinc finger protein 136 LOC342970 19p13.2 similar to Zinc finger protein 20 (Zinc finger protein KOX13) (DKFZp572P0920) LOC284387 19p13.2 similar to Heterogeneous nuclear ribonucleoprotein A1 (Helix-destabilizing protein) (Single-strand binding protein) (hnRNP core protein A1) (HDP-1) (Topoisomerase-inhibitor suppressed) LOC390890 19 hypothetical gene supported by AK126753 ZNF441 19p13.13 zinc finger protein 441 ZNF491 19p13.2 zinc finger protein 491 ZNF440 19p13.13 zinc finger protein 440 ZNF439 19p13.13 zinc finger protein 439
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    18 - 2253 - 525 - 2010 19801576
    18 - 2262 - 528 - 2010 19801576
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly Homo sapiens
     mouthtongue  highly
    Reproductivefemale systemuteruscervix highly
     female systemovary  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestivehepatocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    Text in fetal liver (
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an extremely GLU-rich region
  • two polyadenylation sites
  • HOMOLOGY
    Homologene
    FAMILY PRK family
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text localizes to the endoplasmic reticulum, where it assembles with the glucosidase II alpha subunit
    basic FUNCTION
  • substrate for protein kinase C, playing a role in carbohydrate processing and quality control of newly synthesized glycoproteins in the endoplasmic reticulum
  • probably required for development of bile ducts and does not interact with SEC63
  • PRKCSH and SEC63 function in protein translocation and quality control pathways in the endoplasmic reticulum
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component component of a cytosolic signal transduction complex
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • directly binds activated FGFR1 and forms a ternary complex with growth factor receptor-bound protein 2 (GRB2) and son of sevenless (SOS)
  • TRIM67 regulates RAS signaling via degradation of PRKCSH, leading to neural differentiation including neuritogenesis
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PCLD1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS