CALM1

Chr 14q32.11

calmodulin 1

Aliases:: CAMI, PHKD, DD132, PHKD1
MANE:: ENST00000356978.9

OMIM: 114180 ↗NCBI: 801 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CALM1 · P0DP23

v62025-08-01

Predicted Aligned Error matrix for CALM1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

85.3/ 100

Confident

149 residues

Confidence breakdown

Very high(≥ 90)44%
Confident(70–90)46%
Low(50–70)9%
Very low(< 50)1%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Catecholaminergic polymorphic VT
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT syndrome
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Short QT syndrome
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

long QT syndrome 14
0.77
catecholaminergic polymorphic ventricular tachycardia 4
0.75
catecholaminergic polymorphic ventricular tachycardia
0.61
cardiovascular disorder
0.53
bacterial infectious disease
0.50
Prolonged QT interval
0.49
Romano-Ward syndrome
0.47
Abnormality of the cardiovascular system
0.44
familial long QT syndrome
0.41
anthrax infection
0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Calmodulin-1

Calmodulin acts as part of a calcium signal transduction pathway by mediating the control of a large number of enzymes, ion channels, aquaporins and other proteins through calcium-binding (PubMed:16760425, PubMed:23893133, PubMed:26969752, PubMed:27165696, PubMed:28890335, PubMed:31454269, PubMed:35568036). Calcium-binding is required for the activation of calmodulin (PubMed:16760425, PubMed:23893133, PubMed:26969752, PubMed:27165696, PubMed:28890335, PubMed:31454269, PubMed:35568036). Among the enzymes to be stimulated by the calmodulin-calcium complex are a number of protein kinases, such as myosin light-chain kinases and calmodulin-dependent protein kinase type II (CaMK2), and phosphatases (PubMed:16760425, PubMed:23893133, PubMed:26969752, PubMed:27165696, PubMed:28890335, PubMed:31454269, PubMed:35568036). Together with CCP110 and centrin, is involved in a genetic pathway that regulates the centrosome cycle and progression through cytokinesis (PubMed:16760425). Is a regulator of voltage-dependent L-type calcium channels (PubMed:31454269). Mediates calcium-dependent inactivation of CACNA1C (PubMed:26969752). Positively regulates calcium-activated potassium channel activity of KCNN2 (PubMed:27165696). Forms a potassium channel complex with KCNQ1 and regulates electrophysiological activity of the channel via calcium-binding (PubMed:25441029). Acts as a sensor to modulate the endoplasmic reticulum contacts with other organelles mediated by VMP1:ATP2A2 (PubMed:28890335). Component of the silencing factor of the integrated stress response (SIFI) complex, a multiprotein complex required to turn off the mitochondrial stress response after a specific stress event has been resolved (PubMed:38297121, PubMed:40328314, PubMed:40875847)