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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 (Calmodulin 1) is a Protein Coding gene. Diseases associated with CALM1 include Long Qt Syndrome 14 and Ventricular Tachycardia, Catecholaminergic Polymorphic, 4. Among its related pathways are Downstream signaling events of B Cell Receptor (BCR) and Physiological and Pathological Hypertrophy of the Heart. Gene Ontology (GO) annotations related to this gene include calcium ion binding and protein domain specific binding. An important paralog of this gene is CALM3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005509 | calcium ion binding | IEA,IDA | 7607248 |
GO:0005515 | protein binding | IPI | 3111527 |
GO:0008179 | adenylate cyclase binding | IPI | 11807546 |
GO:0010856 | adenylate cyclase activator activity | IDA | 11807546 |
GO:0016301 | kinase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000922 | spindle pole | IEA,IDA | 16760425 |
GO:0005576 | extracellular region | TAS | -- |
GO:0005634 | nucleus | IEA,HDA | 21630459 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005737 | cytoplasm | TAS | 10899953 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
|
.92
|
2 | DAG and IP3 signaling |
.93
|
Signal transduction Calcium signaling
.35
Development Beta-adrenergic receptors signaling via cAMP
.32
|
3 | Post NMDA receptor activation events | ||
4 | Development Angiotensin activation of ERK |
Development ACM2 and ACM4 activation of ERK
.73
Development Angiotensin activation of ERK
.73
Development Angiotensin signaling via PYK2
.68
|
Development G-Proteins mediated regulation MARK-ERK signaling
.65
Cell adhesion Integrin inside-out signaling
.45
Signal transduction IP3 signaling
.40
|
5 | Development Endothelin-1/EDNRA signaling |
Development Endothelin-1/EDNRA signaling
.41
Development Endothelin-1/EDNRA transactivation of EGFR
.41
Cytoskeleton remodeling FAK signaling
.41
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000086 | G2/M transition of mitotic cell cycle | IEA | -- |
GO:0000165 | MAPK cascade | TAS | -- |
GO:0000226 | microtubule cytoskeleton organization | IBA | -- |
GO:0001975 | response to amphetamine | IEA | -- |
GO:0002027 | regulation of heart rate | IMP | 23040497 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Bepridil | Approved, Withdrawn | Pharma | Target, binder, blocker | 0 | ||
Flunarizine | Approved | Pharma | Target, antagonist, blocker | 9 | ||
Dibucaine | Approved, Vet_approved | Pharma | Target, inhibitor | 0 | ||
Felodipine | Approved, Investigational | Pharma | Target, other | 24 | ||
Fluphenazine | Approved | Pharma | Target, inhibitor | 17 |
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | ^ | 8a | · | 8b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | |||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||
SP6: | - | - | - | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Platypus (Ornithorhynchus anatinus) |
Mammalia | CALM1 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CALM1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CALM1 31 |
|
OneToOne | |
Chimpanzee (Pan troglodytes) |
Mammalia | CALM3 31 |
|
OneToOne | |
CALM2 30 |
|
||||
Mouse (Mus musculus) |
Mammalia | Calm1 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CALM 30 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CALM 31 |
|
OneToOne | |
CALM1 30 |
|
||||
Lizard (Anolis carolinensis) |
Reptilia | CALM1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.10372 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | calm3b 31 |
|
ManyToMany | |
calm3a 31 |
|
ManyToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | Cam 31 32 |
|
OneToMany | |
And 32 |
|
|
|||
CG11165 32 |
|
|
|||
Mlc-c 32 |
|
|
|||
TpnC41C 32 |
|
|
|||
Worm (Caenorhabditis elegans) |
Secernentea | cmd-1 31 32 |
|
ManyToMany | |
cal-6 31 |
|
ManyToMany | |||
Y73B3A.12 32 |
|
|
|||
cal-1 32 |
|
|
|||
cal-2 32 |
|
|
|||
cal-3 32 |
|
|
|||
cal-4 32 |
|
|
|||
F12A10.5 32 |
|
|
|||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CMD1 33 |
|
|
|
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | CAM7 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os07g0687200 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10340 31 |
|
OneToMany | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU04120 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | cam1 30 |
|
SNP ID | Clinical significance and condition | Chr 14 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
845207 | Uncertain Significance: Ventricular tachycardia, catecholaminergic polymorphic, 4; Long QT syndrome 14 | 90,401,330(+) |
G/C NM_006888.6(CALM1):c.106G>C (p.Val36Leu) |
MISSENSE_VARIANT,FIVE_PRIME_UTR | |
945682 | Uncertain Significance: Ventricular tachycardia, catecholaminergic polymorphic, 4; Long QT syndrome 14 | 90,403,963(+) |
G/C NM_006888.6(CALM1):c.280G>C (p.Asp94His) |
MISSENSE | |
948239 | Pathogenic: Ventricular tachycardia, catecholaminergic polymorphic, 4; Long QT syndrome 14 | 90,404,488(+) |
A/T NM_006888.6(CALM1):c.395A>T (p.Asp132Val) |
MISSENSE | |
961658 | Pathogenic: Ventricular tachycardia, catecholaminergic polymorphic, 4; Long QT syndrome 14 | 90,404,693(+) |
C/A NM_006888.6(CALM1):c.426C>A (p.Phe142Leu) |
MISSENSE | |
rs1057521851 | Likely Pathogenic: not provided | 90,401,312(+) |
A/C NM_006888.6(CALM1):c.88A>C (p.Thr30Pro) |
MISSENSE_VARIANT,FIVE_PRIME_UTR |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3635309 | CNV | gain | 21293372 |
nsv1069812 | CNV | deletion | 25765185 |
nsv1131072 | CNV | deletion | 24896259 |
nsv983850 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
long qt syndrome 14 |
|
|
ventricular tachycardia, catecholaminergic polymorphic, 4 |
|
|
catecholaminergic polymorphic ventricular tachycardia |
|
|
long qt syndrome 1 |
|
|
familial long qt syndrome |
|