CALM1
Calmodulin-1
Also known as: CALM1_HUMAN, CALML2, CAMI, DD132, PHKD, PHKD1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P0DP23
- Gene
- CALM1
- Ensembl
- ENSG00000198668
- Chromosome
- 14
- Canonical length
- 149 aa
- Protein class
- Disease related genes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Predicted intracellular proteins, RAS pathway related proteins
- Subcellular location
- Cytosol
- Quaternary structure
- Homotetramer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
149 residues, UniProt reviewed canonical sequence.
>P0DP23|CALM1
1 MADQLTEEQI AEFKEAFSLF DKDGDGTITT KELGTVMRSL GQNPTEAELQ DMINEVDADG
61 NGTIDFPEFL TMMARKMKDT DSEEEIREAF RVFDKDGNGY ISAAELRHVM TNLGEKLTDE
121 EVDEMIREAD IDGDGQVNYE EFVQMMTAKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CALM1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.35
- Highest tissue expression
- 837 nTPM
Expression across tissuesHPA
Tissue
- cerebral cortex: 837 nTPM
- hippocampal formation: 685 nTPM
- cerebellum: 676 nTPM
- basal ganglia: 673 nTPM
- amygdala: 661 nTPM
- skeletal muscle: 559 nTPM
Single-cell type
- esophageal apical cells: 6,885 nCPM
- respiratory ciliated cells: 2,827 nCPM
- fallopian tube ciliated cells: 2,059 nCPM
- platelets: 1,762 nCPM
- esophageal suprabasal cells: 1,746 nCPM
- syncytiotrophoblasts: 1,650 nCPM
Immune cell
- total PBMC: 1,226 nTPM
- basophil: 1,106 nTPM
- MAIT T-cell: 1,037 nTPM
- T-reg: 974 nTPM
- memory CD8 T-cell: 930 nTPM
- memory CD4 T-cell: 887 nTPM
Brain region
- cerebral cortex: 1,865 nTPM
- hippocampal formation: 1,468 nTPM
- basal ganglia: 1,239 nTPM
- white matter: 1,201 nTPM
- pons: 1,086 nTPM
- thalamus: 1,050 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CALM1.
Disease | AllUniProt
Conditions CALM1 is implicated in, by any mechanism.
- Ventricular tachycardia, catecholaminergic polymorphic, 4 (CPVT4) MIM:614916
- Long QT syndrome 14 (LQT14) MIM:616247
Disease | GeneticClinVar
20 pathogenic / likely-pathogenic of 198 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Long QT syndrome 14
- Catecholaminergic polymorphic ventricular tachycardia 4
- Cardiovascular phenotype
- CALM1-related disorder
- Catecholaminergic polymorphic ventricular tachycardia 1
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.33
- gnomAD pLI
- 0.94
- gnomAD missense Z
- 3.05
- DepMap mean gene effect
- 0.02
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- autophagosome membrane docking
- calcineurin-mediated signaling
- cellular response to interferon-beta
- cellular response to type II interferon
- detection of calcium ion
- G protein-coupled receptor signaling pathway
- G2/M transition of mitotic cell cycle
- long-term synaptic potentiation
- mitochondrion-endoplasmic reticulum membrane tethering
- negative regulation of calcium ion export across plasma membrane
- negative regulation of high voltage-gated calcium channel activity
- negative regulation of ryanodine-sensitive calcium-release channel activity
- organelle localization by membrane tethering
- positive regulation of receptor signaling pathway via JAK-STAT
- presynaptic endocytosis
- regulation of calcium-mediated signaling
- regulation of cardiac muscle cell action potential
- regulation of cardiac muscle contraction
- regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion
- regulation of cell communication by electrical coupling involved in cardiac conduction
- regulation of cytokinesis
- regulation of heart rate
- regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
- regulation of ryanodine-sensitive calcium-release channel activity
- response to calcium ion
- substantia nigra development
Molecular functions
- adenylate cyclase activator activity
- calcium channel inhibitor activity
- calcium channel regulator activity
- calcium ion binding
- calcium-dependent protein binding
- protein kinase binding
- protein phosphatase activator activity
- protein serine/threonine kinase activator activity
- titin binding
- transmembrane transporter binding
Cellular components
- calcium channel complex
- calyx of Held
- catalytic complex
- centrosome
- cytoplasm
- cytosol
- extracellular region
- myelin sheath
- nucleoplasm
- nucleus
- plasma membrane
- presynaptic cytosol
- protein-containing complex
- sarcomere
- sperm midpiece
- spindle microtubule
- spindle pole
- synaptic vesicle membrane
- vesicle
- voltage-gated potassium channel complex
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CALM1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CALM1 as an antibody target. Whether an autoantibody or antibody against CALM1 could matter depends on whether native CALM1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CALM1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label CALM1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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