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FLASH GENE

Symbol

CHERP

contributors: mct - updated : 24-04-2013

HGNC name	calcium homeostasis endoplasmic reticulum protein
HGNC id	16930

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	24.56 kb     17 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006387 17 - 4105 NP_006378 104 916 - 2011 21454501 - - - 6400 128 - cardiac and skeletal muscle 2011 21454501

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 Lymphoid/Immune lymph node       predominantly   thymus       highly Reproductive female system uterus cervix   highly   female system ovary     highly   female system placenta     highly Respiratory lung       highly Urinary bladder       highly Visual eye       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular

cell lineage
cell lines
fluid/secretion	blood

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	G-patch domain
	glycine-rich nucleic binding domain
	putative transmembrane domain
	multiple consensus phosphorylation sites
	a polyglutamine tract of 12 repeats and regions of imperfect tryptophan and histidine octa and nona -peptide repeats

HOMOLOGY

interspecies	ortholog to rattus Cherp_predicted
	ortholog to murine Cherp

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,nuclear envelope

basic FUNCTION	playing a role in calcium homeostasis, growth and proliferation
	involved in negative regulation of cell proliferation
	involved in regulation of nuclear pre-mRNA protein
	important component of the ER Ca(2+)-mobilizing system in cells, and its loss impairs Ca(2+)-dependent biochemical pathways and progression through the cell cycle
	acts as a direct cytoplasmic regulator of IP(3)Rs and RyRs and in the nucleus to impact cellular proliferation by regulating the function of the U2 snRNA spliceosomal complex

CELLULAR PROCESS	cell life, proliferation/growth

PHYSIOLOGICAL PROCESS

development

text	nervous system development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

binding

small molecule

protein

CHERP is an RYR1 interacting protein that may be involved in the regulation of excitation-contraction coupling

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS