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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
  • CALML2 3 4
  • CaM 3 4
  • Phosphorylase Kinase, Delta Subunit 3
  • CALM1 CALM2 CALM3 4
  • Calmodulin 3
  • CAMIII 4
  • CPVT4 3
  • DD132 3
  • LQT14 3
  • CAMI 3
  • PHKD 3
  • CALM 4
  • CAM1 4
  • CAM2 4
  • CAM3 4
  • CAMB 4
  • CAMC 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 Metabolism of fat-soluble vitamins and RET signaling. 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 for CALM1 Gene

  • Calmodulin 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.

Gene Wiki entry for CALM1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CALM1 Gene

Genomics for CALM1 Gene

Regulatory Elements for CALM1 Gene

Enhancers for CALM1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14F090757 1.3 FANTOM5 Ensembl ENCODE 17.5 +362.7 362657 3.3 PKNOX1 CREB3L1 WRNIP1 ZNF2 ZNF143 ZNF207 SP3 REST SMARCB1 KAT8 TTC7B CALM1 C14orf159 RPS18P2 GC14P090745
GH14F090298 1.4 FANTOM5 Ensembl ENCODE 15.9 -94.3 -94311 7.4 MLX ARID4B RAD21 RARA ELK1 ZNF366 MIXL1 THAP11 ZNF654 CEBPB NRDE2 CALM1 RPS18P2 KCNK13 PIR41665 PIR47953
GH14F090368 0.7 ENCODE 11.9 -26.9 -26930 1.2 SOX13 CTCF ELF3 SOX5 ZNF654 SAP130 CBFB ZBTB8A RAD21 IKZF1 CALM1 NRDE2 KCNK13 RPL21P11 GC14P090384
GH14F090418 1.3 Ensembl ENCODE 11.7 +22.8 22826 1.8 PKNOX1 JUN MAX ZNF384 ZBTB40 ZIC2 RAD21 E2F1 ZFHX2 ZNF366 CALM1 ENSG00000258424 LOC101930294
GH14F090416 0.4 ENCODE 11.5 +20.5 20478 0.8 ZFHX2 ZNF600 EGR2 CALM1 NRDE2 ENSG00000258424 LOC101930294
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CALM1 on UCSC Golden Path with GeneCards custom track

Promoters for CALM1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001459604 1599 3800 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF207 ZNF143 FOS

Genomic Location for CALM1 Gene

Chromosome:
14
Start:
90,396,502 bp from pter
End:
90,408,275 bp from pter
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:
    P62158-CALM_HUMAN
    Recommended name:
    Calmodulin
    Protein Accession:
    P62158
    Secondary Accessions:
    • P02593
    • 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 and RYR2 (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 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 and RYR2 (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 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 and RYR2 (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).
    Miscellaneous:
    • This protein has four functional calcium-binding sites.
    SequenceCaution:
    • Sequence=CAA36839.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CALM1 Gene

neXtProt entry for CALM1 Gene

Post-translational modifications for CALM1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CALM1 (Calmodulin)
  • Santa Cruz Biotechnology (SCBT) Antibodies for CALM1

No data available for DME Specific Peptides for CALM1 Gene

Domains & Families for CALM1 Gene

Gene Families for CALM1 Gene

Protein Domains for CALM1 Gene

Graphical View of Domain Structure for InterPro Entry

P62158

UniProtKB/Swiss-Prot:

CALM_HUMAN :
  • Contains 4 EF-hand domains.
  • Belongs to the calmodulin family.
Domain:
  • Contains 4 EF-hand domains.
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

GENATLAS Biochemistry:
calmodulin 1,calcium modulated protein
UniProtKB/Swiss-Prot Function:
Calmodulin 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.

Gene Ontology (GO) - Molecular Function for CALM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0005509 calcium ion binding IEA,ISS --
GO:0005515 protein binding IPI 3111527
GO:0008179 adenylate cyclase binding IEA --
GO:0008440 inositol-1,4,5-trisphosphate 3-kinase activity TAS --
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

miRNA for CALM1 Gene

miRTarBase miRNAs that target CALM1

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CALM1

Flow Cytometry Products

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. 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
Jensen Localization Image for CALM1 Gene COMPARTMENTS Subcellular localization image for CALM1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 5
nucleus 5
plasma membrane 5
endoplasmic reticulum 3
chloroplast 2
golgi apparatus 2
lysosome 2
mitochondrion 2
vacuole 2
endosome 1

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:0005634 nucleus IDA 21630459
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm TAS 10899953
genes like me logo Genes that share ontologies with CALM1: view

Pathways & Interactions for CALM1 Gene

SuperPathways for CALM1 Gene

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

Pathways by source for CALM1 Gene

Interacting Proteins for CALM1 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000349467%0d%0a9606.ENSP00000268182%0d%0a9606.ENSP00000217244%0d%0a9606.ENSP00000222308%0d%0a9606.ENSP00000297494%0d%0a9606.ENSP00000328968%0d%0a
Selected Interacting proteins: P62158-CALM_HUMAN ENSP00000349467 for CALM1 Gene via MINT STRING IID UniProtKB

Symbol External ID(s) Details
CACNA1C
KCNH1
MYO10
RCHY1
YWHAZ

Gene Ontology (GO) - Biological Process for CALM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle IEA --
GO:0000165 MAPK cascade TAS --
GO:0001975 response to amphetamine IEA --
GO:0002027 regulation of heart rate IMP 23040497
GO:0002576 platelet degranulation TAS --
genes like me logo Genes that share ontologies with CALM1: view

No data available for SIGNOR curated interactions for CALM1 Gene

Drugs & Compounds for CALM1 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aprindine Approved Pharma inhibitor, Target 0
Bepridil Approved, Withdrawn Pharma Pore Blocker, blocker, Target, binder 0
Flunarizine Approved Pharma blocker, Target 5
Dibucaine Approved, Vet_approved Pharma Target, inhibitor 0
Felodipine Approved, Investigational Pharma Potentiation, Activator, Target, other 22

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-Methylpropan-2-ol
  • 1,1-Dimethylethanol
  • 2-Methyl N-propan-2-ol
  • 2-Methyl-2-Propanol
  • 2-Methylpropan-2-ol
  • Alcohol, tert-butyl
75-65-0
genes like me logo Genes that share compounds with CALM1: view

Transcripts for CALM1 Gene

Unigene Clusters for CALM1 Gene

Calmodulin 1 (phosphorylase kinase, delta):
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CALM1

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
CALM1

Expression for CALM1 Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for CALM1 Gene



Protein tissue co-expression partners for CALM1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CALM1 Gene:

CALM1

SOURCE GeneReport for Unigene cluster for CALM1 Gene:

Hs.282410
genes like me logo Genes that share expression patterns with CALM1: view

Primer Products

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
dog
(Canis familiaris)
Mammalia CALM1 35
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CALM1 35
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Calm1 35
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CALM1 35
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CALM3 35
  • 100 (a)
OneToOne
CALM2 34
  • 85.23 (n)
cow
(Bos Taurus)
Mammalia CALM 34 35
  • 84.34 (n)
chicken
(Gallus gallus)
Aves CALM 35
  • 100 (a)
OneToOne
CALM1 34
  • 91.28 (n)
lizard
(Anolis carolinensis)
Reptilia CALM1 35
  • 100 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10372 34
zebrafish
(Danio rerio)
Actinopterygii calm3a 35
  • 100 (a)
ManyToMany
calm3b 35
  • 100 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Cam 36 35
  • 97 (a)
And 36
  • 67 (a)
CG11165 36
  • 53 (a)
Mlc-c 36
  • 46 (a)
TpnC41C 36
  • 45 (a)
worm
(Caenorhabditis elegans)
Secernentea cmd-1 36 35
  • 97 (a)
Y73B3A.12 36
  • 76 (a)
cal-6 35
  • 76 (a)
ManyToMany
cal-1 36
  • 68 (a)
cal-2 36
  • 65 (a)
cal-3 36
  • 59 (a)
cal-4 36
  • 59 (a)
F12A10.5 36
  • 45 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CMD1 37
thale cress
(Arabidopsis thaliana)
eudicotyledons CAM7 34
  • 73.6 (n)
rice
(Oryza sativa)
Liliopsida Os07g0687200 34
  • 74.94 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10340 35
  • 97 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU04120 34
  • 70.02 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cam1 34
  • 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)

Paralogs for CALM1 Gene

Variants for CALM1 Gene

Sequence variations from dbSNP and Humsavar for CALM1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs11551462 Long QT syndrome 14 (LQT14) [MIM:616247]
rs267607276 Ventricular tachycardia, catecholaminergic polymorphic, 4 (CPVT4) [MIM:614916], Pathogenic 90,401,385(+) GATCA(A/T)TGAAG reference, missense
rs398124647 Long QT syndrome 15 (LQT15) [MIM:616249], Ventricular tachycardia, catecholaminergic polymorphic, 4 (CPVT4) [MIM:614916], Long QT syndrome 15 (LQT15) [MIM:616249]
rs398124648 Long QT syndrome 15 (LQT15) [MIM:616249]
rs398124649 Long QT syndrome 15 (LQT15) [MIM:616249]

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)

Relevant External Links for CALM1 Gene

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

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

Disorders for CALM1 Gene

MalaCards: The human disease database

(28) MalaCards diseases for CALM1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
long qt syndrome 14
  • lqt14
ventricular tachycardia, catecholaminergic polymorphic, 4
  • ventricular tachycardia, catecholaminergic polymorphic, 1
long qt syndrome 15
  • lqts 15
catecholaminergic polymorphic ventricular tachycardia
  • catecholamine-induced polymorphic ventricular tachycardia
calm1-related catecholaminergic polymorphic ventricular tachycardia
  • ventricular tachycardia, catecholaminergic polymorphic, 4
- elite association - COSMIC cancer census association via MalaCards
Search CALM1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CALM_HUMAN
  • 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}. Note=The disease is caused by mutations affecting the gene represented in this entry. Mutations in CALM1 are the cause of LQT14.
  • Long QT syndrome 15 (LQT15) [MIM:616249]: 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:24917665}. Note=The disease is caused by mutations affecting the gene represented in this entry. Mutations in CALM2 are the cause of LQT15.
  • 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. {ECO:0000269 PubMed:23040497}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CALM1

Genetic Association Database (GAD)
CALM1
Human Genome Epidemiology (HuGE) Navigator
CALM1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CALM1
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 E.J. … Perham R.N. (Biochem. Int. 1984) 2 3 4 64
  2. Calmodulin mutations associated with recurrent cardiac arrest in infants. (PMID: 23388215) Crotti L. … George A.L. (Circulation 2013) 3 4 64
  3. Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death. (PMID: 23040497) Nyegaard M. … Borglum A.D. (Am. J. Hum. Genet. 2012) 3 4 64
  4. Solution NMR structure of Apo-calmodulin in complex with the IQ motif of human cardiac sodium channel NaV1.5. (PMID: 21167176) Chagot B. … Chazin W.J. (J. Mol. Biol. 2011) 3 4 64
  5. Association study of 182 candidate genes in anorexia nervosa. (PMID: 20468064) Pinheiro A.P. … Woodside D.B. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010) 3 46 64

Products for CALM1 Gene

Sources for CALM1 Gene

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