MGP Database

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MGP000396

UniProt Annotations

Entry Information
Gene Namecalmodulin 1 (phosphorylase kinase, delta)
Protein EntryCALM_HUMAN
UniProt IDP62158
SpeciesHuman
Comments
Comment typeDescription
DiseaseVentricular 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. {ECO:0000269|PubMed:23040497}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCalmodulin 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. {ECO:0000269|PubMed:16760425, ECO:0000269|PubMed:23893133}.
InteractionQ9Z305:- (xeno); NbExp=2; IntAct=EBI-397435, EBI-9084208; P29274:ADORA2A; NbExp=3; IntAct=EBI-397435, EBI-2902702; P49407:ARRB1; NbExp=3; IntAct=EBI-397435, EBI-743313; P32121:ARRB2; NbExp=3; IntAct=EBI-397435, EBI-714559; Q13936:CACNA1C; NbExp=12; IntAct=EBI-397435, EBI-1038838; O43303:CCP110; NbExp=9; IntAct=EBI-397435, EBI-1566217; P40136:cya (xeno); NbExp=8; IntAct=EBI-397435, EBI-457011; P00533:EGFR; NbExp=4; IntAct=EBI-397435, EBI-297353; P25445:FAS; NbExp=4; IntAct=EBI-397435, EBI-494743; O95259:KCNH1; NbExp=4; IntAct=EBI-397435, EBI-2909270; P26645:Marcks (xeno); NbExp=2; IntAct=EBI-397435, EBI-911805; Q9HD67:MYO10; NbExp=2; IntAct=EBI-397435, EBI-307061; Q96PM5:RCHY1; NbExp=2; IntAct=EBI-397435, EBI-947779; Q14524:SCN5A; NbExp=2; IntAct=EBI-397435, EBI-726858; Q8WZ42:TTN; NbExp=2; IntAct=EBI-397435, EBI-681210; P63104:YWHAZ; NbExp=2; IntAct=EBI-397435, EBI-347088;
MiscellaneousThis protein has four functional calcium-binding sites.
PtmPhosphorylation results in a decreased activity. {ECO:0000250}.
PtmUbiquitination results in a strongly decreased activity. {ECO:0000250}.
Sequence CautionSequence=CAA36839.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
SimilarityBelongs to the calmodulin family. {ECO:0000305}.
SimilarityContains 4 EF-hand domains. {ECO:0000255|PROSITE- ProRule:PRU00448}.
Subcellular LocationCytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:16760425}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:16760425}. Note=Distributed throughout the cell during interphase, but during mitosis becomes dramatically localized to the spindle poles and the spindle microtubules.
SubunitInteracts with MYO1C, MYO5A and RRAD. Interacts with MYO10 (By similarity). Interacts with CEP97, CCP110, TTN/titin and SRY. Interacts with USP6; the interaction is calcium dependent. Interacts with CDK5RAP2. Interacts with SCN5A. Interacts with RYR1 and RYR2. Interacts with FCHO1. Interacts with MIP in a 1:2 stoichiometry; the interaction with the cytoplasmic domains from two MIP subunits promotes MIP water channel closure. Interacts with ORAI1; this may play a role in the regulation of ORAI1- mediated calcium transport. {ECO:0000250, ECO:0000269|PubMed:12485993, ECO:0000269|PubMed:12577052, ECO:0000269|PubMed:12871148, ECO:0000269|PubMed:15719022, ECO:0000269|PubMed:15746192, ECO:0000269|PubMed:16127172, ECO:0000269|PubMed:16299511, ECO:0000269|PubMed:16760425, ECO:0000269|PubMed:17719545, ECO:0000269|PubMed:18650434, ECO:0000269|PubMed:20466722, ECO:0000269|PubMed:21167176, ECO:0000269|PubMed:22484487, ECO:0000269|PubMed:23109337, ECO:0000269|PubMed:23893133, ECO:0000269|PubMed:9804419}.
Web ResourceName=Protein Spotlight; Note=A question of length - Issue 105 of May 2009; URL="http://web.expasy.org/spotlight/back_issues/105";
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