CALM1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | CALM1 |
| Official Name | calmodulin 1 [Source:HGNC Symbol;Acc:HGNC:1442] |
| Ensembl ID | ENSG00000198668 |
| Bio databases IDs | |
| Aliases | calmodulin 1, prepro-calmodulin 1, phosphorylase kinase subunit delta, phosphorylase kinase subunit delta 1 |
| Synonyms | AI256814, Calm, CALML2, CALMODULIN, Calmodulin 1, CaM, Cam1, CAM2, CAM3, CAMB, CAMC, CAMI, CaMII, CAMIII, CPVT4, DD132, IMAGE:5301034, LQT14, PHKD, PHKD1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CALM1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- EF-Hand
- G-protein-coupled receptor binding
- protein phosphatase regulator
- calcium binding loop
- Ca2+ insensitive EF hand
- EFh_MICU
- enzyme activator activity
- EFh_PI-PLC
- EF-hand domain
- cytoskeletal protein binding
- nitric oxide synthase regulator
- EF hand
- ion channel binding
- calcium-dependent protein binding
- EF-hand, calcium binding motif
- calcium channel inhibitor
- protein kinase binding
- EF-hand domain pair
- enzyme binding
- calcium ion binding
- EFh
- protein domain specific binding
- enzyme regulator activity
- protein binding
- receptor binding
- calcium channel regulator
- protein kinase activator
- phosphoinositide 3-kinase binding
- adenylate cyclase binding
- EF-hand, calcium binding motif, found in parvalbumin-like EF-hand family
- phosphatase activator
Pathways
Biological processes and signaling networks where the CALM1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- breast cancer
- catecholaminergic polymorphic ventricular tachycardia type 4
- essential thrombocythemia
- catecholaminergic polymorphic ventricular tachycardia
- long QT syndrome type 14
- catecholaminergic polymorphic ventricular tachycardia type 1
- amyotrophic lateral sclerosis
- severe acute respiratory syndrome
- long-QT syndrome
- breast carcinoma
role in cell
- proliferation
- accumulation in
- growth
- exocytosis
- response by
- transcription in
- binding in
- cytokinesis in
- action potential
- docking
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- synaptic vesicle membrane
- Extracellular Space
- Plasma Membrane
- centrosome
- sarcomere
- cytosol
- mitochondrial membrane
- nucleoplasm
- spindle pole
- spindle fibers
- sperm midpiece
- growth cone
- myelin sheath
- synapse
- axon terminals
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CALM1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
- positive regulation of cyclic-nucleotide phosphodiesterase activity
- positive regulation of protein autophosphorylation
- G2/M transition of mitotic cell cycle
- regulation of cytokinesis
- cellular response to interferon-beta
- G-protein coupled receptor signaling pathway
- positive regulation of ryanodine-sensitive calcium-release channel activity
- substantia nigra development
- regulation of ryanodine-sensitive calcium-release channel activity
- positive regulation of JAK-STAT cascade
- negative regulation of ryanodine-sensitive calcium-release channel activity
- regulation of heart rate
- detection of calcium ion
- positive regulation of phosphoprotein phosphatase activity
- negative regulation of peptidyl-threonine phosphorylation
- response to calcium ion
- autophagic vacuole docking
- regulation of calcium-mediated signaling
- positive regulation of protein dephosphorylation
- positive regulation of peptidyl-threonine phosphorylation
- cellular response to interferon-gamma
- regulation of cardiac muscle contraction
- positive regulation of protein serine/threonine kinase activity
- regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion
Cellular Component
Where in the cell the gene product is active
- myelin sheath
- voltage-gated potassium channel complex
- spindle pole
- extracellular region
- plasma membrane
- nucleoplasm
- nucleus
- spindle microtubule
- centrosome
- calcium channel complex
- sperm midpiece
- cytoplasm
- cytosol
- vesicle
- macromolecular complex
- sarcomere
Molecular Function
What the gene product does at the molecular level
- protein kinase binding
- protein serine/threonine kinase activator activity
- protein binding
- protein phosphatase activator activity
- adenylate cyclase activator activity
- calcium ion binding
- calcium-dependent protein binding
- titin binding
- ion channel binding
- calcium channel inhibitor activity