CALM1 - calmodulin 1 Gene

Homo sapiens

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

Gene ID: 801 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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%
HY-P75461	CALM2 Protein, Human (His)	P0DP24 (M1-K149)	≥95%

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

Bioactive Molecules (1)

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

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