This gene encodes a member of the EF-hand calcium-binding protein family. It is one of three genes which encode an identical calcium binding protein which is one of the four subunits of phosphorylase kinase. Two pseudogenes have been identified on chromosome 7 and X. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct ... See more...

Aliases for CALM1 Gene

Aliases for CALM1 Gene

  • Calmodulin 1 2 3 5
  • Calmodulin 1 (Phosphorylase Kinase, Delta) 2 3
  • Phosphorylase Kinase Subunit Delta 2 3
  • Prepro-Calmodulin 1 2 3
  • Calmodulin-1 3 4
  • Phosphorylase Kinase, Delta Subunit 3
  • Calmodulin-2 3
  • Calmodulin-3 3
  • CAMIII 3
  • CALML2 3
  • CPVT4 3
  • DD132 3
  • LQT14 3
  • CAM2 3
  • CAM3 3
  • CAMB 3
  • CAMC 3
  • CAMI 3
  • PHKD 3
  • CALM 4
  • CAM1 4
  • CaM 3
  • CAM 4

External Ids for CALM1 Gene

Previous HGNC Symbols for CALM1 Gene

  • CALML2

Previous GeneCards Identifiers for CALM1 Gene

  • GC14P088369
  • GC14P084679
  • GC14P088853
  • GC14P089933
  • GC14P090863
  • GC14P071038

Summaries for CALM1 Gene

Entrez Gene Summary for CALM1 Gene

  • This gene encodes a member of the EF-hand calcium-binding protein family. It is one of three genes which encode an identical calcium binding protein which is one of the four subunits of phosphorylase kinase. Two pseudogenes have been identified on chromosome 7 and X. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]

GeneCards Summary for CALM1 Gene

CALM1 (Calmodulin 1) is a Protein Coding gene. Diseases associated with CALM1 include Long Qt Syndrome 14 and Ventricular Tachycardia, Catecholaminergic Polymorphic, 4. Among its related pathways are Ion channel transport and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include calcium ion binding and protein domain specific binding. An important paralog of this gene is CALM3.

UniProtKB/Swiss-Prot Summary for CALM1 Gene

  • Calmodulin mediates the control of a large number of enzymes, ion channels, aquaporins and other proteins through calcium-binding. Among the enzymes to be stimulated by the calmodulin-calcium 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 (PubMed:16760425). Mediates calcium-dependent inactivation of CACNA1C (PubMed:26969752). Positively regulates calcium-activated potassium channel activity of KCNN2 (PubMed:27165696).
  • (Microbial infection) Required for Legionella pneumophila SidJ glutamylase activity.

Gene Wiki entry for CALM1 Gene

Additional gene information for CALM1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CALM1 Gene

Genomics for CALM1 Gene

GeneHancer (GH) Regulatory Elements for CALM1 Gene

Promoters and enhancers for CALM1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J090396 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 506.5 +1.9 1912 5.2 RXRA EP300 HNRNPK ZNF217 CTCF ZSCAN5C SIN3A NRF1 TCF12 POLR2G CALM1 lnc-NRDE2-5 NRDE2 ENSG00000213315 RPL21P11 ENSG00000258424
GH14J090757 Promoter/Enhancer 1.8 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 17.5 +362.3 362261 2.5 HNRNPK ZBTB40 CTCF NRF1 POLR2G USF1 POLR2A ZBTB26 REST MYC ENSG00000287663 PPP4R3A TTC7B NRDE2 CALM1 ENSG00000213315 DGLUCY RPS18P2
GH14J090294 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 15.9 -97.0 -97001 13.4 HNRNPK EP300 CTCF USF1 TCF7 REST RAD21 ZSCAN9 PCBP1 FOXA2 NRDE2 CALM1 PSMC1 KCNK13 ENSG00000287437 piR-53954
GH14J090452 Promoter/Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas 10.6 +58.5 58505 4.4 JUND JUN ATF2 NFYB MXI1 RBM25 POLR2A MBD2 NEUROD1 NFIC LINC02317 CALM1 LINC00642
GH14J090696 Promoter/Enhancer 1.2 Ensembl ENCODE 11.5 +301.3 301261 3.4 CTCF ZSCAN5C ZNF639 ZNF10 ZIC2 ZBTB10 REST CUX1 RAD21 TRIM22 ENSG00000258716 LOC105370622 NRDE2 RPL21P11 CALM1 PPP4R3A TTC7B piR-34163-009
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CALM1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CALM1

Top Transcription factor binding sites by QIAGEN in the CALM1 gene promoter:
  • C/EBPalpha
  • CHOP-10
  • E2F
  • E2F-1
  • FOXO1
  • MyoD
  • Nkx6-1
  • Pax-5
  • STAT5B

Genomic Locations for CALM1 Gene

Genomic Locations for CALM1 Gene
chr14:90,396,502-90,408,275
(GRCh38/hg38)
Size:
11,774 bases
Orientation:
Plus strand
chr14:90,862,846-90,874,619
(GRCh37/hg19)
Size:
11,774 bases
Orientation:
Plus strand

Genomic View for CALM1 Gene

Genes around CALM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CALM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CALM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CALM1 Gene

Proteins for CALM1 Gene

  • Protein details for CALM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0DP23-CALM1_HUMAN
    Recommended name:
    Calmodulin-1
    Protein Accession:
    P0DP23
    Secondary Accessions:
    • P02593
    • P62158
    • P70667
    • P99014
    • Q13942
    • Q53S29
    • Q61379
    • Q61380
    • Q96HK3

    Protein attributes for CALM1 Gene

    Size:
    149 amino acids
    Molecular mass:
    16838 Da
    Quaternary structure:
    • Interacts with MYO1C, MYO5A and RRAD. Interacts with MYO10 (By similarity). Interacts with CEP97, CCP110, TTN/titin and SRY (PubMed:9804419, PubMed:12871148, PubMed:15746192, PubMed:16760425, PubMed:17719545). Interacts with USP6; the interaction is calcium dependent (PubMed:16127172). Interacts with CDK5RAP2 (PubMed:20466722). Interacts with SCN5A (PubMed:21167176). Interacts with RYR1 (PubMed:18650434). Interacts with FCHO1 (PubMed:22484487). Interacts with MIP in a 1:2 stoichiometry; the interaction with the cytoplasmic domains from two MIP subunits promotes MIP water channel closure (PubMed:23893133). Interacts with ORAI1; this may play a role in the regulation of ORAI1-mediated calcium transport (By similarity). Interacts with IQCF1 (By similarity). Interacts with SYT7 (By similarity). Interacts with CEACAM1 (via cytoplasmic domain); this interaction is in a calcium dependent manner and reduces homophilic cell adhesion through dissociation of dimer (By similarity). Interacts with RYR2; regulates RYR2 calcium-release channel activity (PubMed:27516456, PubMed:18650434, PubMed:26164367). Interacts with PCP4; regulates calmodulin calcium-binding (PubMed:27876793). Interacts with the heterotetrameric KCNQ2 and KCNQ3 channel; the interaction is calcium-independent, constitutive and participates to the proper assembly of a functional heterotetrameric M channel (PubMed:27564677). Interacts with alpha-synuclein/SNCA (PubMed:23607618). Interacts with SLC9A1 in a calcium-dependent manner (PubMed:30287853). In the absence of Ca(+2), interacts with GIMAP4 (via IQ domain) (By similarity). Interacts with SCN8A; the interaction modulates the inactivation rate of SCN8A (By similarity). Interaction with KIF1A; the interaction is increased in presence of calcium and increases neuronal dense core vesicles motility (PubMed:30021165).
    • (Microbial infection) Interacts with Rubella virus protease/methyltransferase p150.
    • (Microbial infection) Interacts with Legionella pneumophila glutamylase SidJ.
    Miscellaneous:
    • This protein has four functional calcium-binding sites.

    Three dimensional structures from OCA and Proteopedia for CALM1 Gene

neXtProt entry for CALM1 Gene

Post-translational modifications for CALM1 Gene

No data available for DME Specific Peptides for CALM1 Gene

Domains & Families for CALM1 Gene

Gene Families for CALM1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for CALM1 Gene

Graphical View of Domain Structure for InterPro Entry

P0DP23

UniProtKB/Swiss-Prot:

CALM1_HUMAN :
  • Belongs to the calmodulin family.
Family:
  • Belongs to the calmodulin family.
genes like me logo Genes that share domains with CALM1: view

No data available for Suggested Antigen Peptide Sequences for CALM1 Gene

Function for CALM1 Gene

Molecular function for CALM1 Gene

UniProtKB/Swiss-Prot Function:
Calmodulin mediates the control of a large number of enzymes, ion channels, aquaporins and other proteins through calcium-binding. Among the enzymes to be stimulated by the calmodulin-calcium 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 (PubMed:16760425). Mediates calcium-dependent inactivation of CACNA1C (PubMed:26969752). Positively regulates calcium-activated potassium channel activity of KCNN2 (PubMed:27165696).
UniProtKB/Swiss-Prot Function:
(Microbial infection) Required for Legionella pneumophila SidJ glutamylase activity.
GENATLAS Biochemistry:
calmodulin 1,calcium modulated protein

Phenotypes From GWAS Catalog for CALM1 Gene

Gene Ontology (GO) - Molecular Function for CALM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA,IDA 7607248
GO:0005515 protein binding IPI 3111527
GO:0008179 adenylate cyclase binding IDA,IPI 11807546
GO:0010856 adenylate cyclase activator activity IDA 11807546
GO:0016301 kinase activity IEA --
genes like me logo Genes that share ontologies with CALM1: view
genes like me logo Genes that share phenotypes with CALM1: view

Human Phenotype Ontology for CALM1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for CALM1 Gene

miRTarBase miRNAs that target CALM1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CALM1

Clone Products

  • Addgene plasmids for CALM1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CALM1 Gene

Localization for CALM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CALM1 Gene

Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, spindle pole. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Distributed throughout the cell during interphase, but during mitosis becomes dramatically localized to the spindle poles and the spindle microtubules.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CALM1 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
extracellular 4
nucleus 4
cytosol 4
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CALM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IEA,IDA 16760425
GO:0005576 extracellular region TAS --
GO:0005623 cell IEA --
GO:0005634 nucleus HDA,IDA 21630459
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with CALM1: view

Pathways & Interactions for CALM1 Gene

PathCards logo

SuperPathways for CALM1 Gene

SuperPathway Contained pathways
1 RET signaling
2 DAG and IP3 signaling
.35
.32
3 Post NMDA receptor activation events
4 Development Angiotensin activation of ERK
.73
.73
.68
.65
.45
.40
5 Development Endothelin-1/EDNRA signaling
.41
.41
.41
genes like me logo Genes that share pathways with CALM1: view

Pathways by source for CALM1 Gene

35 GeneGo (Thomson Reuters) pathways for CALM1 Gene
  • Cell adhesion Integrin inside-out signaling
  • Cytoskeleton remodeling FAK signaling
  • Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation
  • Cytoskeleton remodeling_RalA regulation pathway
  • Cytoskeleton remodeling_RalB regulation pathway
41 Qiagen pathways for CALM1 Gene
  • Activation of cAMP-Dependent PKA
  • Alpha-Adrenergic Signaling
  • Androgen Signaling
  • Breast Cancer Regulation by Stathmin1
  • Calcium Mediated T-Cell Apoptosis
2 Cell Signaling Technology pathways for CALM1 Gene

SIGNOR curated interactions for CALM1 Gene

Activates:
Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CALM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0001975 response to amphetamine IEP --
GO:0002027 regulation of heart rate IMP 23040497
GO:0002576 platelet degranulation TAS --
GO:0005513 detection of calcium ion IMP 23040497
genes like me logo Genes that share ontologies with CALM1: view

Drugs & Compounds for CALM1 Gene

(29) Drugs for CALM1 Gene - From: DrugBank, DGIdb, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bepridil Approved, Withdrawn Pharma Pore Blocker, Target, binder, blocker 0
Flunarizine Approved Pharma Target, blocker 8
Dibucaine Approved, Vet_approved Pharma Target, inhibitor 0
Felodipine Approved, Investigational Pharma Potentiation, Activator, Target, other 22
Fluphenazine Approved Pharma Antagonist, Inverse agonist, Target, inhibitor 17

(1) Additional Compounds for CALM1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-Methylpropan-2-ol
  • (CH3)3C-OH
  • 1,1-Dimethylethanol
  • t-Butanol
  • t-Butyl alchohol
  • t-Butylalkohol
75-65-0
genes like me logo Genes that share compounds with CALM1: view

Transcripts for CALM1 Gene

mRNA/cDNA for CALM1 Gene

4 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
19 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CALM1

Clone Products

  • Addgene plasmids for CALM1

Alternative Splicing Database (ASD) splice patterns (SP) for CALM1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b
SP1: - - - - - -
SP2: - - -
SP3: - -
SP4: -
SP5: -
SP6: - - - -

Relevant External Links for CALM1 Gene

GeneLoc Exon Structure for
CALM1

Expression for CALM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CALM1 Gene

Protein differential expression in normal tissues from HIPED for CALM1 Gene

This gene is overexpressed in Lavage (13.7), Bone (10.1), and Brain (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CALM1 Gene



Protein tissue co-expression partners for CALM1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CALM1

SOURCE GeneReport for Unigene cluster for CALM1 Gene:

Hs.282410

Evidence on tissue expression from TISSUES for CALM1 Gene

  • Nervous system(5)
  • Lung(4.5)
  • Heart(4.3)
  • Pancreas(4.3)
  • Intestine(4.2)
  • Muscle(4.2)
  • Kidney(4.1)
  • Skin(4)
  • Blood(3.9)
  • Eye(3.8)
  • Liver(3.7)
  • Adrenal gland(3.4)
  • Stomach(3.4)
  • Thyroid gland(3.1)
  • Bone marrow(2.9)
  • Spleen(2.9)
  • Gall bladder(2.7)
  • Lymph node(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CALM1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
  • lung
Limb:
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • red blood cell
genes like me logo Genes that share expression patterns with CALM1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CALM1 Gene

Orthologs for CALM1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CALM1 Gene

Organism Taxonomy Gene Similarity Type Details
platypus
(Ornithorhynchus anatinus)
Mammalia CALM1 31
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CALM1 31
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CALM1 31
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CALM3 31
  • 100 (a)
OneToOne
CALM2 30
  • 85.23 (n)
mouse
(Mus musculus)
Mammalia Calm1 31
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CALM 31 30
  • 84.34 (n)
OneToOne
chicken
(Gallus gallus)
Aves CALM 31
  • 100 (a)
OneToOne
CALM1 30
  • 91.28 (n)
lizard
(Anolis carolinensis)
Reptilia CALM1 31
  • 100 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10372 30
zebrafish
(Danio rerio)
Actinopterygii calm3b 31
  • 100 (a)
ManyToMany
calm3a 31
  • 100 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Cam 31 32
  • 98 (a)
OneToMany
And 32
  • 67 (a)
CG11165 32
  • 53 (a)
Mlc-c 32
  • 46 (a)
TpnC41C 32
  • 45 (a)
worm
(Caenorhabditis elegans)
Secernentea cmd-1 31 32
  • 98 (a)
ManyToMany
cal-6 31
  • 76 (a)
ManyToMany
Y73B3A.12 32
  • 76 (a)
cal-1 32
  • 68 (a)
cal-2 32
  • 65 (a)
cal-4 32
  • 59 (a)
cal-3 32
  • 59 (a)
F12A10.5 32
  • 45 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CMD1 33
thale cress
(Arabidopsis thaliana)
eudicotyledons CAM7 30
  • 73.6 (n)
rice
(Oryza sativa)
Liliopsida Os07g0687200 30
  • 74.94 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10340 31
  • 97 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU04120 30
  • 70.02 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cam1 30
  • 68.97 (n)
Species where no ortholog for CALM1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CALM1 Gene

ENSEMBL:
Gene Tree for CALM1 (if available)
TreeFam:
Gene Tree for CALM1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CALM1: view image

Paralogs for CALM1 Gene

(49) SIMAP similar genes for CALM1 Gene using alignment to 5 proteins:

  • CALM_HUMAN
  • E7ETZ0_HUMAN
  • G3V226_HUMAN
  • G3V361_HUMAN
  • G3V479_HUMAN
genes like me logo Genes that share paralogs with CALM1: view

Variants for CALM1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CALM1 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
639902 Pathogenic: Ventricular tachycardia, catecholaminergic polymorphic, 4; Long QT syndrome 14 90,404,487(+) G/A MISSENSE_VARIANT
644229 Uncertain Significance: Ventricular tachycardia, catecholaminergic polymorphic, 4; Long QT syndrome 14 90,404,394(+) A/G MISSENSE_VARIANT
668719 Benign: not provided 90,403,569(+) C/T INTRON_VARIANT
670032 Benign: not provided 90,397,531(+) G/T INTRON_VARIANT
674613 Benign: not provided 90,397,145(+) G/A FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for CALM1 Gene

Structural Variations from Database of Genomic Variants (DGV) for CALM1 Gene

Variant ID Type Subtype PubMed ID
esv3635309 CNV gain 21293372
nsv1069812 CNV deletion 25765185
nsv1131072 CNV deletion 24896259
nsv983850 CNV duplication 23825009

Variation tolerance for CALM1 Gene

Residual Variation Intolerance Score: 53.6% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CALM1 Gene

Human Gene Mutation Database (HGMD)
CALM1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CALM1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CALM1 Gene

Disorders for CALM1 Gene

MalaCards: The human disease database

(14) MalaCards diseases for CALM1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

UniProtKB/Swiss-Prot

CALM1_HUMAN
  • 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. CPVT4 inheritance is autosomal dominant. {ECO:0000269 PubMed:23040497, ECO:0000269 PubMed:26164367, ECO:0000269 PubMed:27165696, ECO:0000269 PubMed:27516456}. Note=The disease is caused by mutations affecting the gene represented in this entry. Mutations in CALM1 are the cause of CPVT4.
  • Long QT syndrome 14 (LQT14) [MIM:616247]: A form of long QT syndrome, a heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. {ECO:0000269 PubMed:23388215, ECO:0000269 PubMed:24076290, ECO:0000269 PubMed:26164367, ECO:0000269 PubMed:26969752, ECO:0000269 PubMed:27165696}. Note=The disease is caused by mutations affecting the gene represented in this entry. Mutations in CALM1 are the cause of LQT14.

Additional Disease Information for CALM1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CALM1: view

No data available for Genatlas for CALM1 Gene

Publications for CALM1 Gene

  1. Isolation and nucleotide sequence of a cDNA encoding human calmodulin. (PMID: 6385987) Wawrzynczak EJ … Perham RN (Biochemistry international 1984) 2 3 4 54
  2. Calcineurin B homologous protein 3 binds with high affinity to the CHP binding domain of the human sodium/proton exchanger NHE1. (PMID: 30287853) Fuchs S … Hunte C (Scientific reports 2018) 3 4 54
  3. Spectrum and Prevalence of CALM1-, CALM2-, and CALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome-Associated Calmodulin Missense Variant, E141G. (PMID: 26969752) Boczek NJ … Ackerman MJ (Circulation. Cardiovascular genetics 2016) 3 4 54
  4. Novel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks. (PMID: 27516456) Gomez-Hurtado N … Knollmann BC (Circulation. Arrhythmia and electrophysiology 2016) 3 4 54
  5. Arrhythmogenic calmodulin mutations impede activation of small-conductance calcium-activated potassium current. (PMID: 27165696) Yu CC … Chen PS (Heart rhythm 2016) 3 4 54

Products for CALM1 Gene