CALM1 - calmodulin 1 Gene

Also Known as caM; CAM2; CAM3; CAMB; CAMC; CAMI; PHKD; CPVT4; DD132; LQT14; PHKD1; CALML2; CAMIII

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 801

About CALM1

Cytogenetic location: 14q32.11 Genomic coordinates (GRCh38): 14:90,396,502-90,408,268 (from NCBI)

This gene has 17 transcripts (splice variants), 149 orthologues, 20 paralogues and is associated with 6 phenotypes. Ubiquitous expression in brain (RPKM 439.8), esophagus (RPKM 93.6) and 24 other tissues.

Summary

This gene encodes one of three Calmodulin proteins which are members of the EF-hand calcium-binding protein family. Calcium-induced activation of Calmodulin regulates and modulates the function of cardiac ion channels. Two pseudogenes have been identified on chromosome 7 and X. Multiple transcript variants encoding different isoforms have been found for this gene.A missense mutation in the CALM1 gene has been associated with ventricular tachycardia.[provided by RefSeq, May 2020]

CALM1 Products (3)

mRNA	Protein	Name
NM_001363669.2	NP_001350598.1	calmodulin-1 isoform 3
NM_001363670.2	NP_001350599.1	calmodulin-1 isoform 1
NM_006888.6	NP_008819.1	calmodulin-1 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables adenylate cyclase activator activity	IDA IDA: Inferred from direct assay	11807546	GOA
enables calcium channel inhibitor activity	IDA IDA: Inferred from direct assay	26969752	GOA
enables calcium ion binding	IDA IDA: Inferred from direct assay	7607248	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	3111527	GOA
enables protein kinase binding	IPI IPI: Inferred from physical interaction	20668654	GOA
enables protein phosphatase activator activity	IDA IDA: Inferred from direct assay	8631777	GOA
enables protein serine/threonine kinase activator activity	IDA IDA: Inferred from direct assay	14722083	GOA
enables titin binding	IPI IPI: Inferred from physical interaction	7607248	GOA
enables transmembrane transporter binding	IPI IPI: Inferred from physical interaction	21167176	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in autophagosome membrane docking	IDA IDA: Inferred from direct assay	28890335	GOA
involved in cellular response to interferon-beta	IDA IDA: Inferred from direct assay	35568036	GOA
involved in cellular response to type II interferon	IDA IDA: Inferred from direct assay	11972023	GOA
involved in detection of calcium ion	IMP IMP: Inferred from mutant phenotype	23040497	GOA
involved in mitochondrion-endoplasmic reticulum membrane tethering	IDA IDA: Inferred from direct assay	28890335	GOA
involved in negative regulation of high voltage-gated calcium channel activity	IMP IMP: Inferred from mutant phenotype	31454269	GOA
involved in negative regulation of ryanodine-sensitive calcium-release channel activity	IDA IDA: Inferred from direct assay	26164367	GOA
involved in organelle localization by membrane tethering	IDA IDA: Inferred from direct assay	28890335	GOA
involved in positive regulation of cyclic-nucleotide phosphodiesterase activity	IDA IDA: Inferred from direct assay	8631777	GOA
involved in positive regulation of receptor signaling pathway via JAK-STAT	IDA IDA: Inferred from direct assay	11972023	GOA
involved in positive regulation of ryanodine-sensitive calcium-release channel activity	IDA IDA: Inferred from direct assay	20226167	GOA
involved in regulation of cardiac muscle cell action potential	IMP IMP: Inferred from mutant phenotype	31454269	GOA
involved in regulation of cardiac muscle contraction	IMP IMP: Inferred from mutant phenotype	23040497	GOA
involved in regulation of cytokinesis	IMP IMP: Inferred from mutant phenotype	16760425	GOA
involved in regulation of heart rate	IMP IMP: Inferred from mutant phenotype	23040497	GOA
involved in regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IDA IDA: Inferred from direct assay	20226167	GOA
involved in regulation of ryanodine-sensitive calcium-release channel activity	IDA IDA: Inferred from direct assay	22067155	GOA
involved in response to calcium ion	IDA IDA: Inferred from direct assay	7607248	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of calcium channel complex	IDA IDA: Inferred from direct assay	23040497	GOA
part of catalytic complex	IDA IDA: Inferred from direct assay	11807546	GOA
located in centrosome	IDA IDA: Inferred from direct assay	16760425	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	27165696	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	19855925	GOA
located in sarcomere	IDA IDA: Inferred from direct assay	20226167	GOA
located in spindle microtubule	IDA IDA: Inferred from direct assay	16760425	GOA
located in spindle pole	IDA IDA: Inferred from direct assay	16760425	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CALM1 Protein Structure

EF-hand_7

0
100
149 a.a.

Protein Preferred Names	Protein Names
calmodulin-1	Calmodulin-2

CALM1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CALM1	P0DP23	IQSEC2	Homo sapiens	Q5JU85	Lumier	30842726
Intra	CALM1	P0DP23	IQSEC2	Homo sapiens	Q5JU85	Anti Tag CoIP	35271311
Intra	CALM1	P0DP23	IDH1	Homo sapiens	O75874	Pull Down	31983428

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant CALM1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7710	Calmodulin Protein, Human	P0DP23 (M1-K149)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P75461	CALM2 Protein, Human (His)	P0DP24 (M1-K149)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Long Qt Syndrome 14	LQT14 Long Qt Syndrome, Type 14
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Catecholaminergic Polymorphic Ventricular Tachycardia 4 CPVT4 Bidirectional Tachycardia Stress-Induced Polymorphic Ventricular Tachycardia Cvpt4 Double Tachycardia Induced By Catecholamines Malignant Paroxysmal Ventricular Tachycardia Multifocal Ventricular Premature Beats Paroxysmal Ventricular Fibrillation Syncopal Paroxysmal Tachycardia Syncopal Tachyarythmia Vtsip Tachycardia, Ventricular, Catecholaminergic Polymorphic, Type 4 Multifocal Pvcs Multifocal Premature Ventricular Beats Paroxysmal Familial Ventricular Fibrillation Ventricular Tachycardia, Catecholaminergic Polymorphic, 1
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
Long Qt Syndrome 1	Romano-Ward Syndrome LQT1 Ward-Romano Syndrome Rws Ventricular Fibrillation With Prolonged Qt Interval Wrs Long Qt Syndrome 1, Acquired, Susceptibility To Long Qt Syndrome 1, Acquired Romano-Ward Long Qt Syndrome Long Qt Syndrome Type 1 Long Qt Syndrome-1 Acquired Susceptibility To Long Qt Syndrome 1 Qt Syndrome, Long, Type 1
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Catecholaminergic Polymorphic Ventricular Tachycardia 1 Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 CPVT1 Ventricular Tachycardia, Stress-Induced Polymorphic Vtsip Bidirectional Tachycardia Stress-Induced Polymorphic Ventricular Tachycardia Cvpt1 Double Tachycardia Induced By Catecholamines Malignant Paroxysmal Ventricular Tachycardia Multifocal Ventricular Premature Beats Paroxysmal Ventricular Fibrillation Syncopal Paroxysmal Tachycardia Syncopal Tachyarythmia Ventricular Tachycardia Catecholaminergic Polymorphic 1 Tachycardia, Ventricular, Catecholaminergic Polymorphic, Type 1 Multifocal Pvcs Multifocal Premature Ventricular Beats Paroxysmal Familial Ventricular Fibrillation Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
Cardiac Arrest	Cardiopulmonary Arrest Circulatory Arrest Heart Arrest
Rubella	German Measles Three Day Measles Rubella Nos
Long Qt Syndrome	Romano-Ward Syndrome Long Q-T Syndrome Lqt Qt Syndrome, Long Congenital Long Qt Syndrome Familial Long Qt Syndrome
Long Qt Syndrome 15	LQT15 Long Qt Syndrome, Type 15
Myotonia
Flying Phobia	Aerophobia
Long Qt Syndrome 2	LQT2 Long Qt Syndrome, Acquired, Reduced Susceptibility To Long Qt Syndrome 1/2 Long Qt Syndrome 2/3 Long Qt Syndrome 2/5 Long Qt Syndrome 2, Acquired, Susceptibility To Long Qt Syndrome, Acquired, Reduced Long Qt Syndrome Type 2 Long Qt Syndrome 2/9 Lqt1/2 Lqt2/3 Lqt2/5 Lqt2/9 Susceptibility To Acquired Long Qt Syndrome 2 Long Qt Syndrome-2 Qt Syndrome, Long, Type 2 Long Qt Syndrome 1-2 Long Qt Syndrome 2-3 Long Qt Syndrome 2-5 Long Qt Syndrome 9
Scoliosis
Diamond-Blackfan Anemia 3	DBA3 Anemia, Diamond-Blackfan, 3 Rps24-Related Diamond-Blackfan Anemia Anemia Diamond-Blackfan 3 Anemia, Diamond-Blackfan, Type 3
Andersen Cardiodysrhythmic Periodic Paralysis	Andersen Syndrome Andersen-Tawil Syndrome LQT7 Long Qt Syndrome 7 Ats Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type Long Qt Syndrome Type 7 Andersen Tawil Syndrome Potassium-Sensitive Cardiodysrhythmic Type Lqts Type 7 Long Qt Syndrome-7
Vascular Disease	Vascular Diseases Aneurysm Spinal Cord Ischemia Vascular Anomaly Spinal Cord Vascular Diseases Vascular Tissue Disease
Brugada Syndrome	Sudden Unexpected Nocturnal Death Syndrome Sudden Unexplained Nocturnal Death Syndrome Bangungut Brugada Type Idiopathic Ventricular Fibrillation Pokkuri Death Syndrome Sunds Idiopathic Ventricular Fibrillation, Brugada Type Sudden Unexplained Death Dream Disease Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome Sudden Unexplained Death Syndrome Suds Sunds - [Sudden Unexplained Nocturnal Death Syndrome]
Left Ventricular Noncompaction	Noncompaction Cardiomyopathy Left Ventricular Hypertrabeculation Lvnc Spongy Myocardium Isolated Noncompaction Of The Ventricular Myocardium Left Ventricular Myocardial Noncompaction Cardiomyopathy Fetal Myocardium Honeycomb Myocardium Hypertrabeculation Syndrome Left Ventricular Non-Compaction Lvht Non-Compaction Of The Left Ventricular Myocardium Ventricular Noncompaction, Left Non-Compaction Cardiomyopathy
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01840	CALM1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CALM1	MGD	MGI:88251
Macaca mulatta	CALM1	VGNC	VGNC:108003
Rattus norvegicus	CALM1	RGD	RGD:2257
Canis familiaris	CALM1	VGNC	VGNC:56048
Others	CALM1	NCBI