CASQ1 - calsequestrin 1 Gene

Also Known as CASQ; CSQ1; PDIB1; VMCQA

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 844

About CASQ1

Cytogenetic location: 1q23.2 Genomic coordinates (GRCh38): 1:160,190,575-160,201,886 (from NCBI)

This gene has 3 transcripts (splice variants), 264 orthologues, 1 paralogue and is associated with 3 phenotypes. Biased expression in esophagus (RPKM 21.8), prostate (RPKM 18.0) and 6 other tissues.

Summary

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, functions as a calcium regulator in the mitochondria of skeletal muscle. This protein is absent in patients with Duchenne and Becker types of muscular dystrophy. [provided by RefSeq, Jun 2013]

CASQ1 Products (1)

mRNA	Protein	Name
NM_001231.5	NP_001222.3	calsequestrin-1 precursor

CASQ1 Protein Structure

Calsequestrin

0
100
200
300
396 a.a.

Protein Preferred Names	Protein Names
calsequestrin-1	calmitin

CASQ1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CASQ1	P31415	GAS2L2	Homo sapiens	Q8NHY3	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant CASQ1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P75459	Calsequestrin 1 Protein, Human	P31415 (Q35-D396)	≥ 95%, as determined by reducing SDS-PAGE.

CASQ1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81816	Calsequestrin 1 Antibody (YA1561)	WB, IHC-P, FC	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Myopathy, Vacuolar, With Casq1 Aggregates	Myopathy Due To Calsequestrin And Serca1 Protein Overload VMCQA Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates Vacuolar Aggregate Myopathy
Myopathy, Tubular Aggregate, 1	Tubular Aggregate Myopathy Tam Myopathy With Tubular Aggregates TAM1 Myopathy, Tubular Aggregate Tubular Aggregate Myopathy 1
Malignant Hyperthermia	Anesthesia Related Hyperthermia Malignant Hyperpyrexia Due To Anesthesia Hyperpyrexia, Malignant Hyperthermia, Malignant Malignant Hyperpyrexia Mhs Malignant Fever
Myopathy	Muscular Diseases Myopathies
Muscular Dystrophy	Muscular Dystrophies Congenital Md Congenital Muscular Dystrophy Cmd Mdc Dystrophy, Muscular Gower'S Muscular Dystrophy Progressive Musclular Dystrophy Pseudohypertrophic Atrophy Pseudohypertrophic Muscle Paralysis Pseudohypertrophic Muscular Atrophy Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Paralysis Pseudomuscular Hypertrophy
Myopathy, Distal, 3	MPD3 Distal Muscular Dystrophy 3 Distal Myopathy Type 3 Myopathy, Distal 3 Distal Myopathy 3 Finnish Upper Limb-Onset Distal Myopathy
Stormorken Syndrome	Thrombocytopathy, Asplenia, And Miosis Stormorken-Sjaastad-Langslet Syndrome STRMK York Platelet Syndrome Yps Thrombocytopathy, Asplenia And Miosis Thrombocytopathy Asplenia Miosis Thrombocytopathy-Asplenia-Miosis Syndrome Miosis Disorder
Exposure Keratitis	Exposure Keratoconjunctivitis Lagophthalmic Keratitis
Central Core Disease Of Muscle	Central Core Disease Central Core Myopathy CCD Cco Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber Myopathy, Central Core Shy-Magee Syndrome Muscle Core Disease Muscular Central Core Disease Myopathy, Central Fibrillar Shy'S Disease Moderate Multiminicore Disease With Hand Involvement
Glycogen Storage Disease Vii	Glycogen Storage Disease Type Vii Muscle Phosphofructokinase Deficiency Tarui Disease GSD7 Pfkm Deficiency Gsd Vii Glycogen Storage Disease, Type Vii Glycogen Storage Disease Type 7 Phosphofructokinase Deficiency Glycogenosis Type Vii Phosphofructokinase Myopathy Glycogenosis 7 Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency Gsd Due To Muscle Phosphofructokinase Deficiency Gsd Type 7 Gsd Type Vii Glycogenosis Due To Muscle Phosphofructokinase Deficiency Glycogenosis Type 7 Glycogen Storage Disease 7 Gsd-Vii Storage Disease, Glycogen, Type Vii
Catecholaminergic Polymorphic Ventricular Tachycardia	Cpvt Catecholamine-Induced Polymorphic Ventricular Tachycardia Familial Polymorphic Ventricular Tachycardia Malignant Paroxysmal Ventricular Tachycardia Multifocal Ventricular Premature Beats Stress-Induced Polymorphic Ventricular Tachycardia Bidirectional Tachycardia Induced By Catecholamine Double Tachycardia Induced By Catecholamines Polymorphic Catecholergic Ventricular Tachycardia Syncopal Paroxysmal Tachycardia Bidirectional Tachycardia Induced By Catecholamines Fpvt Bidirectional Ventricular Tachycardia Induced By Catecholamine Polymorphic Ventricular Tachycardia Induced By Catecholamines Ventricular Tachycardia, Catecholaminergic Polymorphic Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 Familial Ventricular Tachycardia Multifocal Pvcs Multifocal Premature Ventricular Beats
Brody Disease	Brody Myopathy BROD Sarcoplasmic Reticulum -Ca2+Atpase Deficiency Myopathy, Brody
Deafness, Autosomal Dominant 7	DFNA7 Autosomal Dominant Nonsyndromic Deafness 7 Autosomal Dominant Deafness 7 Deafness, Autosomal Dominant, 7 Deafness, Autosomal Dominant, Type 7
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Multiminicore Disease	Multiminicore Myopathy Mmd Minicore Disease Minicore Myopathy Multi-Core Congenital Myopathy Multi-Core Disease Multi-Minicore Disease Multicore Disease Multicore Myopathy Minicore Myopathy With External Ophthalmoplegia
Achalasia	Cardiospasm Achalasia Of Cardia Esophageal Achalasia Hypertensive Lower Esophageal Sphincter Idiopathic Achalasia Achalasia Cardia Idiopathic Achalasia Of Esophagus Primary Achalasia Achalasia Of Esophagus Lack Of Reflex Relaxation Of Lower Oesophageal Sphincter Aperistalsis Of The Oesophagus Achalasia Of Oesophagus Oesophageal Achalasia Achalasia Nos Cardia Spasm Cardia Achalasia Oesophageal Cardiospasm Oesophagus Achalasia Reflex Cardiospasm
Heart Septal Defect	Septal Defect Heart Septal Defects Cardiac Septal Defects Congenital Septal Defect Of Heart
Ventricular Septal Defect	Ventricular Septal Defects Interventricular Septal Defect Heart Septal Defects, Ventricular Ventricular Septal Abnormality Interventricular Septum Defect Ventricular Septum Defect Vsd - [Ventricular Septum Defect] Congenital Ventricular Septal Defect Single Ventricular Septal Defect
Double Outlet Right Ventricle	Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect Taussig-Bing Syndrome Dextrotransposition Of Aorta Taussig-Bing Syndrome Or Defect Dorv Dorv With Subpulmonary Vsd Dorv-Tga Double Outlet Right Ventricle With Transposition Of The Great Arteries Double Outlet Right Ventricle With Subpulmonary Interventricular Communication, Transposition Type Taussig-Bing Heart Taussig-Bing Malformation Taussig-Bing Complex Taussig-Bing Defect Taussig-Bing Double Outlet Right Ventricle With Remote Ventricular Septal Defect Double Outlet Right Ventricle With Uncommitted Ventricular Septal Defect Double Outlet Right Ventricle With Non-Committed Interventricular Communication Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication Without Pulmonary Stenosis Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication And Pulmonary Stenosis
Isolated Elevated Serum Creatine Phosphokinase Levels	Elevated Serum Cpk Idiopathic Hyperckemia Isolated Hyperckemia Elevated Serum Creatine Phosphokinase H-Ck Idiopathic Persistent Elevation Of Serum Creatine Kinase
Tetralogy Of Fallot	TOF Fallot Tetralogy Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle Tetrad Of Fallot Fallot Tetrad Fallot Disease Fallot Complex Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle Interventricular Septal Defect, In Tetralogy Of Fallot Ventricular Septal Defect With Obstructed Right Ventricular Outflow Tof - [Tetralogy Of Fallot] Pulmonary Atresia With Ventricular Septal Defect [Fallot Type] Pulmonary Atresia, Ventricular Septal Defect And Mapcas Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01972	CASQ1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19990	Casq1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26494	Casq1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	CASQ1	VGNC	VGNC:106334
Canis familiaris	CASQ1	VGNC	VGNC:38738
Mus musculus	CASQ1	MGD	MGI:1309468
Rattus norvegicus	CASQ1	RGD	RGD:1586677
Bos taurus	CASQ1	VGNC	VGNC:26786
Felis catus	CASQ1	VGNC	VGNC:60386
Others	CASQ1	NCBI