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CALM1 (calmodulin 1 (phosphorylase kinase, delta))

Identity

Other namesCALML2
CAMI
CPVT4
DD132
LQT14
PHKD
caM
HGNC (Hugo) CALM1
LocusID (NCBI) 801
Atlas_Id 903
Location 14q32.11
Location_base_pair Starts at 90863327 and ends at 90874619 bp from pter ( according to hg19-Feb_2009)
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 (phosphorylase kinase, delta)
AliasesCALML2; CAMI; CPVT4; DD132; 
LQT14; PHKD; caM
GeneCards (Weizmann)CALM1
Ensembl hg19 (Hinxton)ENSG00000198668 [Gene_View]  chr14:90863327-90874619 [Contig_View]  CALM1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000198668 [Gene_View]  chr14:90863327-90874619 [Contig_View]  CALM1 [Vega]
ICGC DataPortalENSG00000198668
TCGA cBioPortalCALM1
AceView (NCBI)CALM1
Genatlas (Paris)CALM1
WikiGenes801
SOURCE (Princeton)CALM1
Genomic and cartography
GoldenPath hg19 (UCSC)CALM1  -     chr14:90863327-90874619 +  14q32.11   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CALM1  -     14q32.11   [Description]    (hg38-Dec_2013)
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)AI651063 AK289937 AU122722 AY189287 BC000454
RefSeq transcript (Entrez)NM_001166106 NM_006888
RefSeq genomic (Entrez)NC_000014 NC_018925 NG_013338 NT_026437 NW_004929393
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 (Uniprot)
NextProtP62158  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP62158
Splice isoforms : SwissVarP62158 (Swissvar)
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)  
DMDM Disease mutations801
Blocks (Seattle)CALM1
PDB (SRS)1AJI    1CDL    1CLL    1CTR    1IWQ    1J7O    1J7P    1K90    1K93    1L7Z    1LVC    1NKF    1PK0    1S26    1SK6    1SW8    1WRZ    1XFU    1XFV    1XFW    1XFX    1XFY    1XFZ    1Y6W    1YR5    1YRT    1YRU    1ZOT    1ZUZ    2BE6    2F3Y    2F3Z    2HF5    2I08    2JZI    2K0E    2K0F    2K0J    2K61    2KNE    2KUG    2KUH    2L53    2L7L    2LGF    2LL6    2LL7    2LQC    2LQP    2LV6    2M0J    2M0K    2M55    2MG5    2N6A    2R28    2V01    2V02    2VAY    2W73    2WEL    2X0G    2Y4V    3BYA    3DVE    3DVJ    3DVK    3DVM    3EWT    3EWV    3G43    3HR4    3J41    3O77    3O78    3OXQ    3SUI    3UCT    3UCW    3UCY    4BW7    4BW8    4BYF    4DCK    4DJC    4GOW    4JPZ    4JQ0    4L79    4LZX    4M1L    4OVN    4Q57    4Q5U    4UMO    4UPU    4V0C   
PDB (PDBSum)1AJI    1CDL    1CLL    1CTR    1IWQ    1J7O    1J7P    1K90    1K93    1L7Z    1LVC    1NKF    1PK0    1S26    1SK6    1SW8    1WRZ    1XFU    1XFV    1XFW    1XFX    1XFY    1XFZ    1Y6W    1YR5    1YRT    1YRU    1ZOT    1ZUZ    2BE6    2F3Y    2F3Z    2HF5    2I08    2JZI    2K0E    2K0F    2K0J    2K61    2KNE    2KUG    2KUH    2L53    2L7L    2LGF    2LL6    2LL7    2LQC    2LQP    2LV6    2M0J    2M0K    2M55    2MG5    2N6A    2R28    2V01    2V02    2VAY    2W73    2WEL    2X0G    2Y4V    3BYA    3DVE    3DVJ    3DVK    3DVM    3EWT    3EWV    3G43    3HR4    3J41    3O77    3O78    3OXQ    3SUI    3UCT    3UCW    3UCY    4BW7    4BW8    4BYF    4DCK    4DJC    4GOW    4JPZ    4JQ0    4L79    4LZX    4M1L    4OVN    4Q57    4Q5U    4UMO    4UPU    4V0C   
PDB (IMB)1AJI    1CDL    1CLL    1CTR    1IWQ    1J7O    1J7P    1K90    1K93    1L7Z    1LVC    1NKF    1PK0    1S26    1SK6    1SW8    1WRZ    1XFU    1XFV    1XFW    1XFX    1XFY    1XFZ    1Y6W    1YR5    1YRT    1YRU    1ZOT    1ZUZ    2BE6    2F3Y    2F3Z    2HF5    2I08    2JZI    2K0E    2K0F    2K0J    2K61    2KNE    2KUG    2KUH    2L53    2L7L    2LGF    2LL6    2LL7    2LQC    2LQP    2LV6    2M0J    2M0K    2M55    2MG5    2N6A    2R28    2V01    2V02    2VAY    2W73    2WEL    2X0G    2Y4V    3BYA    3DVE    3DVJ    3DVK    3DVM    3EWT    3EWV    3G43    3HR4    3J41    3O77    3O78    3OXQ    3SUI    3UCT    3UCW    3UCY    4BW7    4BW8    4BYF    4DCK    4DJC    4GOW    4JPZ    4JQ0    4L79    4LZX    4M1L    4OVN    4Q57    4Q5U    4UMO    4UPU    4V0C   
PDB (RSDB)1AJI    1CDL    1CLL    1CTR    1IWQ    1J7O    1J7P    1K90    1K93    1L7Z    1LVC    1NKF    1PK0    1S26    1SK6    1SW8    1WRZ    1XFU    1XFV    1XFW    1XFX    1XFY    1XFZ    1Y6W    1YR5    1YRT    1YRU    1ZOT    1ZUZ    2BE6    2F3Y    2F3Z    2HF5    2I08    2JZI    2K0E    2K0F    2K0J    2K61    2KNE    2KUG    2KUH    2L53    2L7L    2LGF    2LL6    2LL7    2LQC    2LQP    2LV6    2M0J    2M0K    2M55    2MG5    2N6A    2R28    2V01    2V02    2VAY    2W73    2WEL    2X0G    2Y4V    3BYA    3DVE    3DVJ    3DVK    3DVM    3EWT    3EWV    3G43    3HR4    3J41    3O77    3O78    3OXQ    3SUI    3UCT    3UCW    3UCY    4BW7    4BW8    4BYF    4DCK    4DJC    4GOW    4JPZ    4JQ0    4L79    4LZX    4M1L    4OVN    4Q57    4Q5U    4UMO    4UPU    4V0C   
Structural Biology KnowledgeBase1AJI    1CDL    1CLL    1CTR    1IWQ    1J7O    1J7P    1K90    1K93    1L7Z    1LVC    1NKF    1PK0    1S26    1SK6    1SW8    1WRZ    1XFU    1XFV    1XFW    1XFX    1XFY    1XFZ    1Y6W    1YR5    1YRT    1YRU    1ZOT    1ZUZ    2BE6    2F3Y    2F3Z    2HF5    2I08    2JZI    2K0E    2K0F    2K0J    2K61    2KNE    2KUG    2KUH    2L53    2L7L    2LGF    2LL6    2LL7    2LQC    2LQP    2LV6    2M0J    2M0K    2M55    2MG5    2N6A    2R28    2V01    2V02    2VAY    2W73    2WEL    2X0G    2Y4V    3BYA    3DVE    3DVJ    3DVK    3DVM    3EWT    3EWV    3G43    3HR4    3J41    3O77    3O78    3OXQ    3SUI    3UCT    3UCW    3UCY    4BW7    4BW8    4BYF    4DCK    4DJC    4GOW    4JPZ    4JQ0    4L79    4LZX    4M1L    4OVN    4Q57    4Q5U    4UMO    4UPU    4V0C   
SCOP (Structural Classification of Proteins)1AJI    1CDL    1CLL    1CTR    1IWQ    1J7O    1J7P    1K90    1K93    1L7Z    1LVC    1NKF    1PK0    1S26    1SK6    1SW8    1WRZ    1XFU    1XFV    1XFW    1XFX    1XFY    1XFZ    1Y6W    1YR5    1YRT    1YRU    1ZOT    1ZUZ    2BE6    2F3Y    2F3Z    2HF5    2I08    2JZI    2K0E    2K0F    2K0J    2K61    2KNE    2KUG    2KUH    2L53    2L7L    2LGF    2LL6    2LL7    2LQC    2LQP    2LV6    2M0J    2M0K    2M55    2MG5    2N6A    2R28    2V01    2V02    2VAY    2W73    2WEL    2X0G    2Y4V    3BYA    3DVE    3DVJ    3DVK    3DVM    3EWT    3EWV    3G43    3HR4    3J41    3O77    3O78    3OXQ    3SUI    3UCT    3UCW    3UCY    4BW7    4BW8    4BYF    4DCK    4DJC    4GOW    4JPZ    4JQ0    4L79    4LZX    4M1L    4OVN    4Q57    4Q5U    4UMO    4UPU    4V0C   
CATH (Classification of proteins structures)1AJI    1CDL    1CLL    1CTR    1IWQ    1J7O    1J7P    1K90    1K93    1L7Z    1LVC    1NKF    1PK0    1S26    1SK6    1SW8    1WRZ    1XFU    1XFV    1XFW    1XFX    1XFY    1XFZ    1Y6W    1YR5    1YRT    1YRU    1ZOT    1ZUZ    2BE6    2F3Y    2F3Z    2HF5    2I08    2JZI    2K0E    2K0F    2K0J    2K61    2KNE    2KUG    2KUH    2L53    2L7L    2LGF    2LL6    2LL7    2LQC    2LQP    2LV6    2M0J    2M0K    2M55    2MG5    2N6A    2R28    2V01    2V02    2VAY    2W73    2WEL    2X0G    2Y4V    3BYA    3DVE    3DVJ    3DVK    3DVM    3EWT    3EWV    3G43    3HR4    3J41    3O77    3O78    3OXQ    3SUI    3UCT    3UCW    3UCY    4BW7    4BW8    4BYF    4DCK    4DJC    4GOW    4JPZ    4JQ0    4L79    4LZX    4M1L    4OVN    4Q57    4Q5U    4UMO    4UPU    4V0C   
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 : AmiGOG2/M transition of mitotic cell cycle  MAPK 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  centrosome  cytosol  spindle microtubule  plasma membrane  glycogen catabolic process  muscle contraction  G-protein coupled receptor signaling pathway  activation of adenylate cyclase activity  Wnt signaling pathway, calcium modulating pathway  voltage-gated potassium channel complex  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  ligand-gated ion channel 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  positive regulation of cyclic nucleotide metabolic process  titin binding  type 3 metabotropic glutamate receptor binding  positive regulation of protein autophosphorylation  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  phospholipase binding  positive regulation of DNA 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  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  regulation of high voltage-gated calcium channel activity  regulation of cell communication by electrical coupling involved in cardiac conduction  
Ontology : EGO-EBIG2/M transition of mitotic cell cycle  MAPK 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  centrosome  cytosol  spindle microtubule  plasma membrane  glycogen catabolic process  muscle contraction  G-protein coupled receptor signaling pathway  activation of adenylate cyclase activity  Wnt signaling pathway, calcium modulating pathway  voltage-gated potassium channel complex  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  ligand-gated ion channel 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  positive regulation of cyclic nucleotide metabolic process  titin binding  type 3 metabotropic glutamate receptor binding  positive regulation of protein autophosphorylation  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  phospholipase binding  positive regulation of DNA 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  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  regulation of high voltage-gated calcium channel activity  regulation of cell communication by electrical coupling involved in cardiac conduction  
Pathways : BIOCARTAAngiotensin II mediated activation of JNK Pathway via Pyk2 dependent signaling [Genes]    fMLP induced chemokine gene expression in HMC-1 cells [Genes]    Signaling Pathway from G-Protein Families [Genes]    NFAT and Hypertrophy of the heart (Transcription in the broken heart) [Genes]    Links between Pyk2 and Map Kinases [Genes]    Pertussis toxin-insensitive CCR5 Signaling in Macrophage [Genes]    Corticosteroids and cardioprotection [Genes]    Actions of Nitric Oxide in the Heart [Genes]    Role of MEF2D in T-cell Apoptosis [Genes]    Bioactive Peptide Induced Signaling Pathway [Genes]    Nitric Oxide Signaling Pathway [Genes]    Regulation of PGC-1a [Genes]    Neuropeptides VIP and PACAP inhibit the apoptosis of activated T cells [Genes]    T Cell Receptor Signaling Pathway [Genes]    BCR Signaling Pathway [Genes]    Effects of calcineurin in Keratinocyte Differentiation [Genes]    Endocytotic role of NDK, Phosphins and Dynamin [Genes]    Ca++/ Calmodulin-dependent Protein Kinase Activation [Genes]    Fc Epsilon Receptor I Signaling in Mast Cells [Genes]    Control of skeletal myogenesis by HDAC & calcium/calmodulin-dependent kinase (CaMK) [Genes]   
Pathways : KEGGRas signaling pathway    Rap1 signaling pathway    Calcium signaling pathway    Phosphatidylinositol signaling system    Oocyte meiosis    Adrenergic signaling in cardiomyocytes    Vascular smooth muscle contraction    Circadian entrainment    Long-term potentiation    Neurotrophin signaling pathway    Dopaminergic synapse    Olfactory transduction    Phototransduction    Insulin signaling pathway    GnRH signaling pathway    Estrogen signaling pathway    Melanogenesis    Salivary secretion    Gastric acid secretion    Alzheimer's disease    Amphetamine addiction    Alcoholism    Pertussis    Tuberculosis    Glioma   
NDEx Network
Atlas of Cancer Signalling NetworkCALM1
Wikipedia pathwaysCALM1
Orthology - Evolution
OrthoDB801
GeneTree (enSembl)ENSG00000198668
Phylogenetic Trees/Animal Genes : TreeFamCALM1
Homologs : HomoloGeneCALM1
Homology/Alignments : Family Browser (UCSC)CALM1
Gene fusions - Rearrangements
Polymorphisms : SNP, 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]
Mutations
ICGC Data PortalCALM1 
TCGA Data PortalCALM1 
Broad Tumor PortalCALM1
OASIS PortalCALM1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCALM1 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)14:90863327-90874619  ENSG00000198668
CONAN: Copy Number AnalysisCALM1 
Mutations and Diseases : HGMDCALM1
OMIM114180    614916    616247   
MedgenCALM1
Genetic Testing Registry CALM1
NextProtP62158 [Medical]
TSGene801
GENETestsCALM1
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
PubMed381 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

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