Gene Gene information from NCBI Gene database.
Entrez ID 801
Gene name Calmodulin 1
Gene symbol CALM1
Synonyms (NCBI Gene)
CALML2CAM2CAM3CAMBCAMCCAMICAMIIICPVT4DD132LQT14PHKDPHKD1caM
Chromosome 14
Chromosome location 14q32.11
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
miRNA miRNA information provided by mirtarbase database.
1709
miRTarBase ID miRNA Experiments Reference
MIRT024054 hsa-miR-1-3p Proteomics;Microarray 18668037
MIRT024054 hsa-miR-1-3p Proteomics 18668040
MIRT053626 hsa-let-7f-5p Microarray 22942087
MIRT191943 hsa-miR-495-5p PAR-CLIP 20371350
MIRT507913 hsa-miR-382-5p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
98
GO ID Ontology Definition Evidence Reference
GO:0000086 Process G2/M transition of mitotic cell cycle IEA
GO:0000922 Component Spindle pole IDA 16760425
GO:0000922 Component Spindle pole IEA
GO:0002027 Process Regulation of heart rate IEA
GO:0002027 Process Regulation of heart rate IMP 23040497
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
114180 1442 ENSG00000198668
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Ras signaling pathway
Rap1 signaling pathway
Calcium signaling pathway
cGMP-PKG signaling pathway
cAMP signaling pathway
Phosphatidylinositol signaling system
Oocyte meiosis
Cellular senescence
Adrenergic signaling in cardiomyocytes
Vascular smooth muscle contraction
Apelin signaling pathway
C-type lectin receptor signaling pathway
Circadian entrainment
Long-term potentiation
Neurotrophin signaling pathway
Dopaminergic synapse
Olfactory transduction
Phototransduction
Inflammatory mediator regulation of TRP channels
Insulin signaling pathway
GnRH signaling pathway
Estrogen signaling pathway
Melanogenesis
Oxytocin signaling pathway
Glucagon signaling pathway
Renin secretion
Aldosterone synthesis and secretion
Salivary secretion
Gastric acid secretion
Alzheimer disease
Parkinson disease
Pathways of neurodegeneration - multiple diseases
Amphetamine addiction
Alcoholism
Pertussis
Tuberculosis
Human cytomegalovirus infection
Kaposi sarcoma-associated herpesvirus infection
Human immunodeficiency virus 1 infection
Pathways in cancer
Glioma
Lipid and atherosclerosis
Fluid shear stress and atherosclerosis
  CaMK IV-mediated phosphorylation of CREB
Calmodulin induced events
Cam-PDE 1 activation
Platelet degranulation
Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation
PKA activation
Synthesis of IP3 and IP4 in the cytosol
Calcineurin activates NFAT
eNOS activation
Inactivation, recovery and regulation of the phototransduction cascade
Stimuli-sensing channels
FCERI mediated Ca+2 mobilization
Ca2+ pathway
Reduction of cytosolic Ca++ levels
Sodium/Calcium exchangers
Unblocking of NMDA receptors, glutamate binding and activation
CREB1 phosphorylation through the activation of CaMKII/CaMKK/CaMKIV cascasde
Smooth Muscle Contraction
Activation of Ca-permeable Kainate Receptor
Uptake and function of anthrax toxins
VEGFR2 mediated vascular permeability
Phase 0 - rapid depolarisation
Ion homeostasis
CLEC7A (Dectin-1) induces NFAT activation
RHO GTPases activate IQGAPs
RHO GTPases activate PAKs
RAF activation
RAF/MAP kinase cascade
Signaling by moderate kinase activity BRAF mutants
Signaling by BRAF and RAF fusions
Paradoxical activation of RAF signaling by kinase inactive BRAF
Glycogen breakdown (glycogenolysis)
Protein methylation
Extra-nuclear estrogen signaling
Ion transport by P-type ATPases
Activation of RAC1 downstream of NMDARs
Long-term potentiation
Signaling downstream of RAS mutants
FCGR3A-mediated IL10 synthesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
CALM1-related disorder Likely pathogenic; Pathogenic rs267607277 RCV004758616
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype Pathogenic; Likely pathogenic rs1085307479, rs267607277 RCV005791873
RCV002433484
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Catecholaminergic polymorphic ventricular tachycardia Likely pathogenic; Pathogenic rs267607277 RCV000714909
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Catecholaminergic polymorphic ventricular tachycardia 1 Likely pathogenic; Pathogenic rs267607276, rs267607277 RCV000157133
RCV000157134
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARRHYTHMIAS, CARDIAC CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CANNABIS ABUSE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Confusional Senile Dementia Senile Dementia CTD_human_DG 11470324
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 16956826, 17804713, 18094714, 20007546
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 10637482, 10637483, 16491119, 23831922
★☆☆☆☆
Found in Text Mining only
Acute Megakaryocytic Leukemias Megakaryocytic Leukemia BEFREE 11417476
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 8169749
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 26824338
★☆☆☆☆
Found in Text Mining only
Adenoid Cystic Carcinoma Adenocarcinoma BEFREE 9374166
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 10637482, 16491119
★☆☆☆☆
Found in Text Mining only
Adult Acute Myeloblastic Leukemia Myeloblastic Leukemia BEFREE 10637482
★☆☆☆☆
Found in Text Mining only
Adult onset autosomal dominant leukodystrophy Leukodystrophy BEFREE 19725832
★☆☆☆☆
Found in Text Mining only