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CALM1 (calmodulin 1)

Identity

Alias_namesCALML2
calmodulin 1 (phosphorylase kinase
Alias_symbol (synonym)CAMI
PHKD
DD132
Other aliasCPVT4
LQT14
caM
HGNC (Hugo) CALM1
LocusID (NCBI) 801
Atlas_Id 903
Location 14q32.11  [Link to chromosome band 14q32]
Location_base_pair Starts at 90396983 and ends at 90408275 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
AIMP1 (4q24) / CALM1 (14q32.11)CACNA1B (9q34.3) / CALM1 (14q32.11)CALM1 (14q32.11) / ABI2 (2q33.2)
CALM1 (14q32.11) / CALM1 (14q32.11)CALM1 (14q32.11) / CANX (5q35.3)CALM1 (14q32.11) / MGP (12p12.3)
CALM1 (14q32.11) / MINK1 (17p13.2)CALM1 (14q32.11) / PSME3 (17q21.31)CALM1 (14q32.11) / RALA (7p14.1)
CALM1 (14q32.11) / UNC5CL (6p21.1)CERS2 (1q21.3) / CALM1 (14q32.11)DCXR (17q25.3) / CALM1 (14q32.11)
FSCN1 (7p22.1) / CALM1 (14q32.11)HN1 (17q25.1) / CALM1 (14q32.11)IRF2BP2 (1q42.3) / CALM1 (14q32.11)
NRDE2 (14q32.11) / CALM1 (14q32.11)STAU1 (20q13.13) / CALM1 (14q32.11)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)CALM1   1442
Cards
Entrez_Gene (NCBI)CALM1  801  calmodulin 1
AliasesCALML2; CAMI; CPVT4; DD132; 
LQT14; PHKD; caM
GeneCards (Weizmann)CALM1
Ensembl hg19 (Hinxton)ENSG00000198668 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000198668 [Gene_View]  chr14:90396983-90408275 [Contig_View]  CALM1 [Vega]
ICGC DataPortalENSG00000198668
TCGA cBioPortalCALM1
AceView (NCBI)CALM1
Genatlas (Paris)CALM1
WikiGenes801
SOURCE (Princeton)CALM1
Genetics Home Reference (NIH)CALM1
Genomic and cartography
GoldenPath hg38 (UCSC)CALM1  -     chr14:90396983-90408275 +  14q32.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CALM1  -     14q32.11   [Description]    (hg19-Feb_2009)
EnsemblCALM1 - 14q32.11 [CytoView hg19]  CALM1 - 14q32.11 [CytoView hg38]
Mapping of homologs : NCBICALM1 [Mapview hg19]  CALM1 [Mapview hg38]
OMIM114180   614916   616247   
Gene and transcription
Genbank (Entrez)AH005375 AI651063 AK289937 AU122722 AY189287
RefSeq transcript (Entrez)NM_001166106 NM_006888
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CALM1
Cluster EST : UnigeneHs.282410 [ NCBI ]
CGAP (NCI)Hs.282410
Alternative Splicing GalleryENSG00000198668
Gene ExpressionCALM1 [ NCBI-GEO ]   CALM1 [ EBI - ARRAY_EXPRESS ]   CALM1 [ SEEK ]   CALM1 [ MEM ]
Gene Expression Viewer (FireBrowse)CALM1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)801
GTEX Portal (Tissue expression)CALM1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP62158   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP62158  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP62158
Splice isoforms : SwissVarP62158
PhosPhoSitePlusP62158
Domaine pattern : Prosite (Expaxy)EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)   
Domains : Interpro (EBI)EF-hand-dom_pair    EF_Hand_1_Ca_BS    EF_hand_dom   
Domain families : Pfam (Sanger)EF-hand_7 (PF13499)   
Domain families : Pfam (NCBI)pfam13499   
Domain families : Smart (EMBL)EFh (SM00054)  
Conserved Domain (NCBI)CALM1
DMDM Disease mutations801
Blocks (Seattle)CALM1
PDB (SRS)###############################################################################################################################################################################################################################################################   
PDB (PDBSum)###############################################################################################################################################################################################################################################################   
PDB (IMB)###############################################################################################################################################################################################################################################################   
PDB (RSDB)###############################################################################################################################################################################################################################################################   
Structural Biology KnowledgeBase###############################################################################################################################################################################################################################################################   
SCOP (Structural Classification of Proteins)###############################################################################################################################################################################################################################################################   
CATH (Classification of proteins structures)###############################################################################################################################################################################################################################################################   
SuperfamilyP62158
Human Protein AtlasENSG00000198668
Peptide AtlasP62158
HPRD00241
Protein Interaction databases
DIP (DOE-UCLA)P62158
IntAct (EBI)P62158
FunCoupENSG00000198668
BioGRIDCALM1
STRING (EMBL)CALM1
ZODIACCALM1
Ontologies - Pathways
QuickGOP62158
Ontology : AmiGOMAPK cascade  spindle pole  response to amphetamine  regulation of heart rate  platelet degranulation  Ras guanyl-nucleotide exchange factor activity  calcium ion binding  calcium ion binding  detection of calcium ion  protein binding  extracellular region  nucleus  nucleoplasm  cytoplasm  cytoplasm  centrosome  cytosol  spindle microtubule  plasma membrane  glycogen catabolic process  protein methylation  muscle contraction  G-protein coupled receptor signaling pathway  activation of adenylate cyclase activity  Wnt signaling pathway, calcium modulating pathway  adenylate cyclase binding  inositol-1,4,5-trisphosphate 3-kinase activity  positive regulation of peptidyl-threonine phosphorylation  negative regulation of peptidyl-threonine phosphorylation  regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum  regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion  postsynaptic density  ligand-gated ion channel activity  calcium channel inhibitor activity  protein kinase binding  protein domain specific binding  substantia nigra development  regulation of rhodopsin mediated signaling pathway  sarcomere  nitric-oxide synthase regulator activity  growth cone  synaptic vesicle membrane  positive regulation of cyclic nucleotide metabolic process  positive regulation of cAMP biosynthetic process  titin binding  type 3 metabotropic glutamate receptor binding  positive regulation of protein autophosphorylation  mitochondrial membrane  vesicle  thioesterase binding  N-terminal myristoylation domain binding  regulation of cytokinesis  positive regulation of phosphoprotein phosphatase activity  ion transmembrane transport  calcium channel complex  positive regulation of protein dephosphorylation  Fc-epsilon receptor signaling pathway  myelin sheath  protein complex  phospholipase binding  protein serine/threonine kinase activator activity  positive regulation of GTPase activity  phosphatidylinositol 3-kinase binding  inositol phosphate metabolic process  ion channel binding  calcium-dependent protein binding  nitric-oxide synthase binding  regulation of nitric-oxide synthase activity  positive regulation of nitric-oxide synthase activity  positive regulation of cyclic-nucleotide phosphodiesterase activity  response to corticosterone  response to calcium ion  regulation of cardiac muscle contraction  regulation of ryanodine-sensitive calcium-release channel activity  negative regulation of ryanodine-sensitive calcium-release channel activity  negative regulation of ryanodine-sensitive calcium-release channel activity  positive regulation of ryanodine-sensitive calcium-release channel activity  extracellular exosome  positive regulation of protein serine/threonine kinase activity  protein phosphatase activator activity  establishment of protein localization to mitochondrial membrane  disordered domain specific binding  regulation of synaptic vesicle endocytosis  regulation of high voltage-gated calcium channel activity  regulation of cell communication by electrical coupling involved in cardiac conduction  catalytic complex  regulation of synaptic vesicle exocytosis  
Ontology : EGO-EBIMAPK cascade  spindle pole  response to amphetamine  regulation of heart rate  platelet degranulation  Ras guanyl-nucleotide exchange factor activity  calcium ion binding  calcium ion binding  detection of calcium ion  protein binding  extracellular region  nucleus  nucleoplasm  cytoplasm  cytoplasm  centrosome  cytosol  spindle microtubule  plasma membrane  glycogen catabolic process  protein methylation  muscle contraction  G-protein coupled receptor signaling pathway  activation of adenylate cyclase activity  Wnt signaling pathway, calcium modulating pathway  adenylate cyclase binding  inositol-1,4,5-trisphosphate 3-kinase activity  positive regulation of peptidyl-threonine phosphorylation  negative regulation of peptidyl-threonine phosphorylation  regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum  regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion  postsynaptic density  ligand-gated ion channel activity  calcium channel inhibitor activity  protein kinase binding  protein domain specific binding  substantia nigra development  regulation of rhodopsin mediated signaling pathway  sarcomere  nitric-oxide synthase regulator activity  growth cone  synaptic vesicle membrane  positive regulation of cyclic nucleotide metabolic process  positive regulation of cAMP biosynthetic process  titin binding  type 3 metabotropic glutamate receptor binding  positive regulation of protein autophosphorylation  mitochondrial membrane  vesicle  thioesterase binding  N-terminal myristoylation domain binding  regulation of cytokinesis  positive regulation of phosphoprotein phosphatase activity  ion transmembrane transport  calcium channel complex  positive regulation of protein dephosphorylation  Fc-epsilon receptor signaling pathway  myelin sheath  protein complex  phospholipase binding  protein serine/threonine kinase activator activity  positive regulation of GTPase activity  phosphatidylinositol 3-kinase binding  inositol phosphate metabolic process  ion channel binding  calcium-dependent protein binding  nitric-oxide synthase binding  regulation of nitric-oxide synthase activity  positive regulation of nitric-oxide synthase activity  positive regulation of cyclic-nucleotide phosphodiesterase activity  response to corticosterone  response to calcium ion  regulation of cardiac muscle contraction  regulation of ryanodine-sensitive calcium-release channel activity  negative regulation of ryanodine-sensitive calcium-release channel activity  negative regulation of ryanodine-sensitive calcium-release channel activity  positive regulation of ryanodine-sensitive calcium-release channel activity  extracellular exosome  positive regulation of protein serine/threonine kinase activity  protein phosphatase activator activity  establishment of protein localization to mitochondrial membrane  disordered domain specific binding  regulation of synaptic vesicle endocytosis  regulation of high voltage-gated calcium channel activity  regulation of cell communication by electrical coupling involved in cardiac conduction  catalytic complex  regulation of synaptic vesicle exocytosis  
Pathways : BIOCARTA [Genes]   
Pathways : KEGG   
NDEx NetworkCALM1
Atlas of Cancer Signalling NetworkCALM1
Wikipedia pathwaysCALM1
Orthology - Evolution
OrthoDB801
GeneTree (enSembl)ENSG00000198668
Phylogenetic Trees/Animal Genes : TreeFamCALM1
HOVERGENP62158
HOGENOMP62158
Homologs : HomoloGeneCALM1
Homology/Alignments : Family Browser (UCSC)CALM1
Gene fusions - Rearrangements
Fusion : MitelmanHN1/CALM1 [17q25.1/14q32.11]  [t(14;17)(q32;q25)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCALM1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CALM1
dbVarCALM1
ClinVarCALM1
1000_GenomesCALM1 
Exome Variant ServerCALM1
ExAC (Exome Aggregation Consortium)CALM1 (select the gene name)
Genetic variants : HAPMAP801
Genomic Variants (DGV)CALM1 [DGVbeta]
DECIPHERCALM1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCALM1 
Mutations
ICGC Data PortalCALM1 
TCGA Data PortalCALM1 
Broad Tumor PortalCALM1
OASIS PortalCALM1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCALM1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCALM1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CALM1
DgiDB (Drug Gene Interaction Database)CALM1
DoCM (Curated mutations)CALM1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CALM1 (select a term)
intoGenCALM1
Cancer3DCALM1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM114180    614916    616247   
Orphanet3525    14727   
MedgenCALM1
Genetic Testing Registry CALM1
NextProtP62158 [Medical]
TSGene801
GENETestsCALM1
Target ValidationCALM1
Huge Navigator CALM1 [HugePedia]
snp3D : Map Gene to Disease801
BioCentury BCIQCALM1
ClinGenCALM1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD801
Chemical/Pharm GKB GenePA26035
Clinical trialCALM1
Miscellaneous
canSAR (ICR)CALM1 (select the gene name)
Probes
Litterature
PubMed410 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCALM1
EVEXCALM1
GoPubMedCALM1
iHOPCALM1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 1 16:56:42 CEST 2017

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