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FLASH GENE

Symbol

CASQ1

contributors: mct - updated : 09-05-2016

HGNC name	calsequestrin 1 (fast-twitch, skeletal muscle)
HGNC id	1512

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001231 11 - 1993 NP_001222 41.74 390 - 2013 23792176

EXPRESSION

Type	restricted

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 Cardiovascular heart         Digestive pharynx         Respiratory respiratory tract larynx

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular smooth       Homo sapiens Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	21 phosphorylation sites
	4 myristylation sites
	one N glycosylation site
	C-terminal calcium-sensitive disordered motifs undergoing distinctive Ca(2+)-mediated folding suggesting that these disordered motifs are Ca(2+)-sensitivity

HOMOLOGY

intraspecies

homolog to CASQ2

Homologene

FAMILY

calsequestrin family

CATEGORY

motor/contractile , storage

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,matrix
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
text	luminal space of the terminal cisternae of RE
	sarcoplasmic reticulum
	CASQ1, CASQ2 are present in the endoplasmic reticulum vacuolar domains of some neurons and smooth muscles

basic FUNCTION	calcium storage protein in terminal cisternae of sarcoplasmic reticulum
	represents the Ca2+ reservoir of mitochondria, the function of which could be similar to what has been reported for calsequestrine in the sarcoplasmic reticulum (Bataille 1994)
	is thought to play a dual role in excitation-contraction coupling: buffering free Ca(2+) increasing SR capacity, and modulating the activity of the Ca(2+) release channels (RyRs) (Paolini 2007)
	high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle
	involved in intracellular storage and release of calcium, a process that has been shown to mediate glucose transport in muscle
	essential for the normal development of the sarcoplasmic reticulum (SR)and its calcium release units and for the storage and release of appropriate amounts of SR Ca(2+) (Paolini 2007)
	curtails RYR1 opening in response to a single action potential to maintain Ca(2+) and allow repeated Ca(2+) release and graded activation with increased stimulation frequency (Wei 2009)
	functions as both a Ca(2+)-binding protein and a luminal regulator of ryanodine receptor (RYR1)-mediated Ca(2+) release (Dainese (2009)
	principal Ca(2+) storage protein of the sarcoplasmic reticulum of skeletal muscle

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	calcium Ca2+
	low affinity
	high capacity

protein	binds laminin
	ASPH and TRDN each activate skeletal ryanodine receptors but ASPH alone mediates functional interactions with CASQ1
	TRDN and ASPH are structurally related transmembrane proteins thought to be key mediators of structural and functional interactions between calsequestrin (CASQ1) and ryanodine receptor (RyRs) at the junctional sarcoplasmic reticulum
	DYSF interacts with CASQ1, MYOM2 and dynein in human skeletal muscle
	role for CASQ1 in promoting the stable association of TRDN to the multiprotein complex associated with RYR

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

VMCQA

related resource

MITOP database

Susceptibility

to type 2 diabetes to Graves ophthalmopathy (GO) to malignant hyperthermia

Variant & Polymorphism SNP	increasing the risk of of type 2 diabetes
	SNPs rs74123279, rs3838216, and rs2275703 may be considered as genetic markers for GO
	M87T "variant" is weakly associated with malignant hyperthermia

Candidate gene	potential candidate gene for linkage analysis in families with malignant hyperthermia/environmental heat stroke where mutations in the RYR1 gene are excluded (Dainese 2009)
Marker
Therapy target

ANIMAL & CELL MODELS

CASQ1-null mice exhibit increased spontaneous mortality and susceptibility to heat- and anesthetic-induced sudden death (Dainese 2009)