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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001001329 18 - 2253 - 525 - 2010 19801576 NM_002743 18 - 2262 - 528 - 2010 19801576

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver       highly Homo sapiens   mouth tongue     highly Reproductive female system uterus cervix   highly   female system ovary     highly

cells

System Cell Pubmed Species Stage Rna symbol Digestive hepatocyte 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