Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	844
Gene name Gene Name - the full gene name approved by the HGNC.	Calsequestrin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CASQ1
Synonyms (NCBI Gene) Gene synonyms aliases	CASQ, CSQ1, PDIB1, VMCQA
Disease Acronyms (UniProt) Disease acronyms from UniProt database	VMCQA
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1q23.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes the skeletal muscle specific member of the calsequestrin protein family. Calsequestrin functions as a luminal sarcoplasmic reticulum calcium sensor in both cardiac and skeletal muscle cells. This protein, also known as calmitine, functio

Show/Hide all(4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs150143470	G>T	Conflicting-interpretations-of-pathogenicity	Stop gained, coding sequence variant
rs730882052	A>G	Pathogenic	Coding sequence variant, missense variant
rs749145120	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs773153762	C>-	Likely-pathogenic	Stop gained, coding sequence variant

Show/Hide all(15)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018690	hsa-miR-335-5p	Microarray	18185580
MIRT029942	hsa-miR-26b-5p	Microarray	19088304
MIRT437538	hsa-miR-19b-3p	Immunoprecipitaion	22382630
MIRT864261	hsa-miR-135a	CLIP-seq
MIRT864262	hsa-miR-135b	CLIP-seq
MIRT864263	hsa-miR-3125	CLIP-seq
MIRT864264	hsa-miR-3150b-3p	CLIP-seq
MIRT864265	hsa-miR-3916	CLIP-seq
MIRT864266	hsa-miR-4784	CLIP-seq
MIRT864267	hsa-miR-877	CLIP-seq
MIRT864264	hsa-miR-3150b-3p	CLIP-seq
MIRT1956168	hsa-miR-4457	CLIP-seq
MIRT864266	hsa-miR-4784	CLIP-seq
MIRT1956169	hsa-miR-511	CLIP-seq
MIRT1956170	hsa-miR-513b	CLIP-seq

Show/Hide all(31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IBA	21873635
GO:0005509	Function	Calcium ion binding	IDA	22337878, 28895244
GO:0005515	Function	Protein binding	IPI	27185316, 32296183
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005759	Component	Mitochondrial matrix	ISS
GO:0005783	Component	Endoplasmic reticulum	IDA	27185316
GO:0005790	Component	Smooth endoplasmic reticulum	TAS	7945294
GO:0005794	Component	Golgi apparatus	IEA
GO:0007029	Process	Endoplasmic reticulum organization	IEA
GO:0007519	Process	Skeletal muscle tissue development	IEA
GO:0009408	Process	Response to heat	IEA
GO:0010033	Process	Response to organic substance	IEA
GO:0014804	Component	Terminal cisterna lumen	IEA
GO:0014809	Process	Regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion	IBA	21873635
GO:0014809	Process	Regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion	ISS
GO:0014894	Process	Response to denervation involved in regulation of muscle adaptation	IEA
GO:0016529	Component	Sarcoplasmic reticulum	ISS
GO:0030018	Component	Z disc	IBA	21873635
GO:0030315	Component	T-tubule	IEA
GO:0033017	Component	Sarcoplasmic reticulum membrane	TAS
GO:0033018	Component	Sarcoplasmic reticulum lumen	IBA	21873635
GO:0033018	Component	Sarcoplasmic reticulum lumen	ISS
GO:0034220	Process	Ion transmembrane transport	TAS
GO:0042802	Function	Identical protein binding	IDA	27185316, 28895244
GO:0045214	Process	Sarcomere organization	ISS
GO:0051258	Process	Protein polymerization	IDA	22337878
GO:0051279	Process	Regulation of release of sequestered calcium ion into cytosol	IBA	21873635
GO:0051281	Process	Positive regulation of release of sequestered calcium ion into cytosol	IMP	28895244
GO:1901341	Process	Positive regulation of store-operated calcium channel activity	IMP	27185316, 28895244
GO:1903779	Process	Regulation of cardiac conduction	TAS
GO:2001256	Process	Regulation of store-operated calcium entry	IMP	28895244

MIM	HGNC	e!Ensembl
114250	1512	ENSG00000143318

Protein

UniProt ID

P31415

Protein name

Calsequestrin-1 (Calmitine) (Calsequestrin, skeletal muscle isoform)

Protein function

Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle (PubMed:28895244). Calcium ions are bound by clusters of acidic residues at the protein surface, often at the inter

PDB

3UOM , 5CRD , 5CRE , 5CRG , 5CRH , 8F48

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01216	Calsequestrin	11 → 396	Calsequestrin	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in myoblasts (at protein level). {ECO:0000269|PubMed:27196359}.

Sequence

MSATDRMGPRAVPGLRLALLLLLVLGTPKSGVQGQEGLDFPEYDGVDRVINVNAKNYKNV
FKKYEVLALLYHEPPEDDKASQRQFEMEELILELAAQVLEDKGVGFGLVDSEKDAAVAKK
LGLTEVDSMYVFKGDEVIEYDGEFSADTIVEFLLDVLEDPVELIEGERELQAFENIEDEI
KLIGYFKSKDSEHYKAFEDAAEEFHPYIPFFATFDSKVAKKLTLKLNEIDFYEAFMEEPV
TIPDKPNSEEEIVNFVEEHRRSTLRKLKPESMYETWEDDMDGIHIVAFAEEADPDGFEFL
ETLKAVAQDNTENPDLSIIWIDPDDFPLLVPYWEKTFDIDLSAPQIGVVNVTDADSVWME
MDDEEDLPSAEELEDWLEDVLEGEINTEDDDDDDDD

Sequence length

396

Interactions

View interactions

	KEGG		Reactome
	Calcium signaling pathway		Stimuli-sensing channels Ion homeostasis

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Myopathy	Myopathy, MYOPATHY, TUBULAR AGGREGATE, 1, MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166 View all (81 more)	28895244, 26136523, 25116801, 27196359

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Tubular Aggregate Myopathy	tubular aggregate myopathy			GenCC

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text Mining
Atrophy	Associate	30258016
Cardiovascular Abnormalities	Associate	30258016
Crisponi syndrome	Associate	25532418
Exercise Induced Allergies	Associate	30258016
Fasciculation	Associate	27196359
Heart Diseases	Associate	24427266, 30258016
Malignant Hyperthermia	Associate	26416891
Meningioma	Associate	30258016
Muscle Weakness	Associate	30258016
Muscular Diseases	Associate	30258016
Myalgia	Associate	30258016
Myopathies Structural Congenital	Associate	27196359
Renal cell carcinoma 1	Associate	27196359
Tachycardia Ventricular	Associate	26087026
Vacuolar myopathy	Associate	26416891

CASQ1 (calsequestrin 1)