RBCC Red Blood Cell Collection

CALM_HUMAN

Source: hRBCD ; ID: IPI00075248
PM19886704
PM23856902
BSc_CH
Marked as 'Non-membrane protein'
Confidence: high (present in two of the MS resources) Search PubMed for
(RBC AND this entry)
Gene names: CALM1 , CALML2, CAM3, CAMC, CAMIII
Protein names and data: CALM_HUMAN , Calmodulin; CaM Lenght: 149 a.a.
Mass: 16838 Da
fasta formatted sequence
Function: Calmodulin mediates the control of a large number of enzymes, ion channels, aquaporins and other proteins by Ca(2+). Among the enzymes to be stimulated by the calmodulin-Ca(2+) complex are a number of protein kinases and phosphatases. Together with CCP110 and centrin, is involved in a genetic pathway that regulates the centrosome cycle and progression through cytokinesis.
Disease: ( OMIM: 114180 114182 114183 614916 ) Ventricular tachycardia, catecholaminergic polymorphic, 4 (CPVT4) [MIM:614916]: An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, spindle pole. Note=Distributed throughout the cell during interphase, but during mitosis becomes dramatically localized to the spindle poles and the spindle microtubules.

Genetic variants

54 - 54 N -> I (in CPVT4; the mutant has significantly reduced Ca(2+) affinity compared to wild-type). VAR_069222
73 - 73 M -> T (in dbSNP:rs41389749). VAR_048585 41389749
98 - 98 N -> S (in CPVT4; the mutant has significantly reduced Ca(2+) affinity compared to wild-type; calmodulin-RYR2 interaction is defective at low intracellular Ca(2+) concentrations and restored at moderate to high Ca(2+) concentrations). VAR_069223

Database cross-references

UniProt: P62158
Ensembl: ENST00000272298
Ensembl: ENST00000291295
Ensembl: ENST00000356978
Ensembl: ENST00000596362
MIM: 114180
MIM: 114182
MIM: 114183
MIM: 614916
neXtProt: NX_P62158
Antibodypedia: P62158 (may not find the protein thus also not any antibody)
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