ENSG00000198668


Homo sapiens

Features
Gene ID: ENSG00000198668
  
Biological name :CALM1
  
Synonyms : CALM1 / calmodulin 1 / P0DP23
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 14
Strand: 1
Band: q32.11
Gene start: 90396502
Gene end: 90408261
  
Corresponding Affymetrix probe sets: 200653_s_at (Human Genome U133 Plus 2.0 Array)   200655_s_at (Human Genome U133 Plus 2.0 Array)   209563_x_at (Human Genome U133 Plus 2.0 Array)   211984_at (Human Genome U133 Plus 2.0 Array)   211985_s_at (Human Genome U133 Plus 2.0 Array)   213688_at (Human Genome U133 Plus 2.0 Array)   213710_s_at (Human Genome U133 Plus 2.0 Array)   241619_at (Human Genome U133 Plus 2.0 Array)   244869_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000450829
Ensembl peptide - ENSP00000450425
Ensembl peptide - ENSP00000451062
Ensembl peptide - ENSP00000486402
Ensembl peptide - ENSP00000451646
Ensembl peptide - ENSP00000349467
Ensembl peptide - ENSP00000403491
Ensembl peptide - ENSP00000442853
NCBI entrez gene - 801     See in Manteia.
NCBI entrez gene - 808     See in Manteia.
OMIM - 114180
RefSeq - NM_006888
RefSeq - XM_006720258
RefSeq Peptide - NP_008819
swissprot - G3V361
swissprot - G3V479
swissprot - E7ETZ0
swissprot - P0DP23
swissprot - Q96HY3
swissprot - M0QZ52
swissprot - B4DJ51
swissprot - G3V226
Ensembl - ENSG00000198668
  
Related genetic diseases (OMIM): 614916 - Ventricular tachycardia, catecholaminergic polymorphic, 4, 614916
  616247 - Long QT syndrome 14, 616247
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 calm1bENSDARG00000034187Danio rerio
 CALM2ENSGALG00000010023Gallus gallus
 Calm1ENSMUSG00000001175Mus musculus
 Calm3ENSMUSG00000019370Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CALM2 / P0DP24 / calmodulin 2ENSG00000143933100
CALM3 / P0DP25 / calmodulin 3ENSG00000160014100
CALML3 / P27482 / calmodulin like 3ENSG0000017836385
TNNC2 / P02585 / troponin C2, fast skeletal typeENSG0000010147052
TNNC1 / P63316 / troponin C1, slow skeletal and cardiac typeENSG0000011485452
CALML5 / Q9NZT1 / calmodulin like 5ENSG0000017837250
CALML6 / Q8TD86 / calmodulin like 6ENSG0000016988546
CALML4 / Q96GE6 / calmodulin like 4ENSG0000012900745
CABP2 / Q9NPB3 / calcium binding protein 2ENSG0000016779144
CABP5 / Q9NP86 / calcium binding protein 5ENSG0000010550743
CABP4 / P57796 / calcium binding protein 4ENSG0000017554443
CABP1 / Q9NZU7 / calcium binding protein 1ENSG0000015778242


Protein motifs (from Interpro)
Interpro ID Name
 IPR002048  EF-hand domain
 IPR011992  EF-hand domain pair
 IPR018247  EF-Hand 1, calcium-binding site
 IPR023198  Phosphoglycolate phosphatase-like, domain 2


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000165 MAPK cascade TAS
 biological_processGO:0002027 regulation of heart rate IMP
 biological_processGO:0002576 platelet degranulation TAS
 biological_processGO:0005513 detection of calcium ion IMP
 biological_processGO:0005980 glycogen catabolic process TAS
 biological_processGO:0006479 protein methylation TAS
 biological_processGO:0006936 muscle contraction TAS
 biological_processGO:0007186 G-protein coupled receptor signaling pathway TAS
 biological_processGO:0007223 Wnt signaling pathway, calcium modulating pathway TAS
 biological_processGO:0010800 positive regulation of peptidyl-threonine phosphorylation TAS
 biological_processGO:0010801 negative regulation of peptidyl-threonine phosphorylation TAS
 biological_processGO:0010880 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum IDA
 biological_processGO:0010881 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion IC
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0021762 substantia nigra development HEP
 biological_processGO:0022400 regulation of rhodopsin mediated signaling pathway TAS
 biological_processGO:0030801 obsolete positive regulation of cyclic nucleotide metabolic process IDA
 biological_processGO:0030819 obsolete positive regulation of cAMP biosynthetic process IDA
 biological_processGO:0031954 positive regulation of protein autophosphorylation TAS
 biological_processGO:0032465 regulation of cytokinesis IMP
 biological_processGO:0032516 positive regulation of phosphoprotein phosphatase activity IDA
 biological_processGO:0034220 ion transmembrane transport IEA
 biological_processGO:0035307 positive regulation of protein dephosphorylation IDA
 biological_processGO:0038095 Fc-epsilon receptor signaling pathway TAS
 biological_processGO:0043647 inositol phosphate metabolic process TAS
 biological_processGO:0050999 regulation of nitric-oxide synthase activity TAS
 biological_processGO:0051186 cofactor metabolic process TAS
 biological_processGO:0051343 positive regulation of cyclic-nucleotide phosphodiesterase activity IDA
 biological_processGO:0051592 response to calcium ion IDA
 biological_processGO:0055117 regulation of cardiac muscle contraction IMP
 biological_processGO:0060314 regulation of ryanodine-sensitive calcium-release channel activity IDA
 biological_processGO:0060315 negative regulation of ryanodine-sensitive calcium-release channel activity IDA
 biological_processGO:0060316 positive regulation of ryanodine-sensitive calcium-release channel activity IDA
 biological_processGO:0071902 positive regulation of protein serine/threonine kinase activity TAS
 biological_processGO:1901844 regulation of cell communication by electrical coupling involved in cardiac conduction IC
 cellular_componentGO:0000922 spindle pole IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005634 nucleus HDA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005737 cytoplasm TAS
 cellular_componentGO:0005813 centrosome IDA
 cellular_componentGO:0005819 spindle IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005876 spindle microtubule IDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0030017 sarcomere IDA
 cellular_componentGO:0031982 vesicle HDA
 cellular_componentGO:0032991 protein-containing complex IDA
 cellular_componentGO:0034704 calcium channel complex IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:1902494 catalytic complex IDA
 molecular_functionGO:0005088 Ras guanyl-nucleotide exchange factor activity TAS
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008179 adenylate cyclase binding IPI
 molecular_functionGO:0008440 inositol-1,4,5-trisphosphate 3-kinase activity TAS
 molecular_functionGO:0015276 ligand-gated ion channel activity TAS
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0019855 calcium channel inhibitor activity IDA
 molecular_functionGO:0019901 protein kinase binding IPI
 molecular_functionGO:0019904 protein domain specific binding IPI
 molecular_functionGO:0031432 titin binding IPI
 molecular_functionGO:0031997 N-terminal myristoylation domain binding IPI
 molecular_functionGO:0043539 protein serine/threonine kinase activator activity TAS
 molecular_functionGO:0044325 ion channel binding IPI
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0072542 protein phosphatase activator activity IDA
 molecular_functionGO:0097718 disordered domain specific binding IPI


Pathways (from Reactome)
Pathway description
CaMK IV-mediated phosphorylation of CREB
Calmodulin induced events
Cam-PDE 1 activation
CaM pathway
Platelet degranulation
Translocation of SLC2A4 (GLUT4) to the plasma membrane
Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation
PKA activation
DARPP-32 events
Synthesis of IP3 and IP4 in the cytosol
Calcineurin activates NFAT
eNOS activation
Transcriptional activation of mitochondrial biogenesis
Inactivation, recovery and regulation of the phototransduction cascade
Stimuli-sensing channels
FCERI mediated Ca+2 mobilization
Ca2+ pathway
Reduction of cytosolic Ca++ levels
Sodium/Calcium exchangers
CREB phosphorylation through the activation of CaMKK
CREB phosphorylation through the activation of CaMKII
Activation of CaMK IV
Ras activation upon Ca2+ influx through NMDA receptor
Smooth Muscle Contraction
Activation of Ca-permeable Kainate Receptor
Uptake and function of anthrax toxins
VEGFR2 mediated vascular permeability
VEGFR2 mediated cell proliferation
Phase 0 - rapid depolarisation
Ion homeostasis
CLEC7A (Dectin-1) induces NFAT activation
RHO GTPases activate IQGAPs
RHO GTPases activate PAKs
RAF/MAP kinase cascade
Glycogen breakdown (glycogenolysis)
Protein methylation
Ion transport by P-type ATPases
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0001279 Syncope "Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. This term refers to an abnormally increased disposition to syncope." [HPO:curators]
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 HP:0001645 Sudden cardiac death 
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 HP:0001657 Prolonged QT interval on EKG 
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 HP:0001695 Cardiac arrest 
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 HP:0001699 Sudden death 
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 HP:0002321 Vertigo "An abnormal sensation of spinning while the body is actually stationary." [HPO:curators]
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 HP:0004756 Ventricular tachycardia 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000006451 RALA / P11233 / RAS like proto-oncogene A  / complex / reaction
 ENSG00000080824 P07900 / HSP90AA1 / heat shock protein 90 alpha family class A member 1  / reaction / complex
 ENSG00000131196 NFATC1 / O95644 / nuclear factor of activated T cells 1  / complex / reaction
 ENSG00000070729 CNGB1 / Q14028 / cyclic nucleotide gated channel beta 1  / complex / reaction
 ENSG00000221823 P63098 / PPP3R1 / protein phosphatase 3 regulatory subunit B, alpha  / complex / reaction
 ENSG00000105464 GRIN2D / O15399 / glutamate ionotropic receptor NMDA type subunit 2D  / complex / reaction
 ENSG00000137825 ITPKA / P23677 / inositol-trisphosphate 3-kinase A  / complex
 ENSG00000113319 O14827 / RASGRF2 / Ras protein specific guanine nucleotide releasing factor 2  / complex / reaction
 ENSG00000058404 CAMK2B / Q13554 / calcium/calmodulin dependent protein kinase II beta  / complex / reaction
 ENSG00000164776 PHKG1 / Q16816 / phosphorylase kinase catalytic subunit gamma 1  / complex
 ENSG00000164867 NOS3 / P29474 / nitric oxide synthase 3  / reaction / complex
 ENSG00000132535 DLG4 / P78352 / discs large MAGUK scaffold protein 4  / complex / reaction
 ENSG00000161509 GRIN2C / Q14957 / glutamate ionotropic receptor NMDA type subunit 2C  / complex / reaction
 ENSG00000148660 CAMK2G / Q13555 / calcium/calmodulin dependent protein kinase II gamma  / complex / reaction
 ENSG00000173020 GRK2 / P25098 / G protein-coupled receptor kinase 2  / complex / reaction
 ENSG00000152495 CAMK4 / Q16566 / calcium/calmodulin dependent protein kinase IV  / complex / reaction
 ENSG00000145349 CAMK2D / Q13557 / calcium/calmodulin dependent protein kinase II delta  / complex / reaction
 ENSG00000105974 CAV1 / Q03135 / caveolin 1  / reaction / complex
 ENSG00000072736 NFATC3 / Q12968 / nuclear factor of activated T cells 3  / complex / reaction
 ENSG00000138814 PPP3CA / Q08209 / protein phosphatase 3 catalytic subunit alpha  / complex / reaction
 ENSG00000183454 GRIN2A / Q12879 / glutamate ionotropic receptor NMDA type subunit 2A  / complex / reaction
 ENSG00000107758 P16298 / PPP3CB / protein phosphatase 3 catalytic subunit beta  / complex / reaction
 ENSG00000184009 ACTG1 / P63261 / actin gamma 1  / complex / reaction
 ENSG00000075624 ACTB / P60709 / actin beta  / complex / reaction
 ENSG00000127914 AKAP9 / Q99996 / A-kinase anchoring protein 9  / complex / reaction
 ENSG00000142208 AKT1 / P31749 / AKT serine/threonine kinase 1  / reaction / complex
 ENSG00000197879 MYO1C / O00159 / myosin IC  / complex
 ENSG00000070808 CAMK2A / Q9UQM7 / calcium/calmodulin dependent protein kinase II alpha  / complex / reaction
 ENSG00000198515 CNGA1 / P29973 / cyclic nucleotide gated channel alpha 1  / complex / reaction
 ENSG00000176884 GRIN1 / Q05586 / glutamate ionotropic receptor NMDA type subunit 1  / complex / reaction
 ENSG00000033122 LRRC7 / Q96NW7 / leucine rich repeat containing 7  / complex / reaction
 ENSG00000068976 PYGM / P11217 / glycogen phosphorylase, muscle associated  / reaction
 ENSG00000082458 DLG3 / Q92796 / discs large MAGUK scaffold protein 3  / complex / reaction
 ENSG00000100504 PYGL / P06737 / glycogen phosphorylase L  / reaction
 ENSG00000100345 MYH9 / P35579 / myosin heavy chain 9  / reaction
 ENSG00000100994 PYGB / P11216 / glycogen phosphorylase B  / reaction
 ENSG00000120910 P48454 / PPP3CC / protein phosphatase 3 catalytic subunit gamma  / complex / reaction
 ENSG00000118680 MYL12B / O14950 / myosin light chain 12B  / reaction
 ENSG00000086544 ITPKC / Q96DU7 / inositol-trisphosphate 3-kinase C  / complex
 ENSG00000105357 MYH14 / Q7Z406 / myosin heavy chain 14  / reaction
 ENSG00000143772 ITPKB / P27987 / inositol-trisphosphate 3-kinase B  / complex
 ENSG00000102893 PHKB / Q93100 / phosphorylase kinase regulatory subunit beta  / complex
 ENSG00000169057 MECP2 / P51608 / methyl-CpG binding protein 2  / reaction
 ENSG00000150672 DLG2 / Q15700 / discs large MAGUK scaffold protein 2  / complex / reaction
 ENSG00000101335 MYL9 / P24844 / myosin light chain 9  / reaction
 ENSG00000092841 MYL6 / P60660 / myosin light chain 6  / reaction
 ENSG00000174775 HRAS / P01112 / HRas proto-oncogene, GTPase  / reaction
 ENSG00000140575 IQGAP1 / P46940 / IQ motif containing GTPase activating protein 1  / complex / reaction
 ENSG00000133392 MYH11 / P35749 / myosin heavy chain 11  / reaction
 ENSG00000133026 MYH10 / P35580 / myosin heavy chain 10  / reaction
 ENSG00000145703 IQGAP2 / Q13576 / IQ motif containing GTPase activating protein 2  / complex / reaction
 ENSG00000070831 CDC42 / P60953 / cell division cycle 42  / complex / reaction
 ENSG00000067177 PHKA1 / P46020 / phosphorylase kinase regulatory subunit alpha 1  / complex
 ENSG00000156873 PHKG2 / P15735 / phosphorylase kinase catalytic subunit gamma 2  / complex
 ENSG00000065534 MYLK / Q15746 / myosin light chain kinase  / complex / reaction
 ENSG00000136238 RAC1 / P63000 / Rac family small GTPase 1  / complex / reaction
 ENSG00000183856 IQGAP3 / Q86VI3 / IQ motif containing GTPase activating protein 3  / complex / reaction
 ENSG00000198668 CALM1 / P0DP23 / calmodulin 1  / complex / reaction
 ENSG00000075711 DLG1 / Q12959 / discs large MAGUK scaffold protein 1  / complex / reaction
 ENSG00000118260 CREB1 / P16220 / cAMP responsive element binding protein 1  / reaction
 ENSG00000101096 NFATC2 / Q13469 / nuclear factor of activated T cells 2  / complex / reaction
 ENSG00000077522 ACTN2 / P35609 / actinin alpha 2  / complex / reaction
 ENSG00000044446 PHKA2 / P46019 / phosphorylase kinase regulatory subunit alpha 2  / complex
 ENSG00000058335 Q13972 / RASGRF1 / Ras protein specific guanine nucleotide releasing factor 1  / complex / reaction
 ENSG00000277586 NEFL / P07196 / neurofilament light  / complex / reaction
 ENSG00000273079 GRIN2B / Q13224 / glutamate ionotropic receptor NMDA type subunit 2B  / complex / reaction
 ENSG00000143919 CAMKMT / Q7Z624 / calmodulin-lysine N-methyltransferase  / reaction






 

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