Human Gene CALM1 (ENST00000356978.9) from GENCODE V44
  Description: Homo sapiens calmodulin 1 (CALM1), transcript variant 2, mRNA. (from RefSeq NM_006888)
RefSeq Summary (NM_006888): This gene encodes one of three calmodulin proteins which are members of the EF-hand calcium-binding protein family. Calcium-induced activation of calmodulin regulates and modulates the function of cardiac ion channels. Two pseudogenes have been identified on chromosome 7 and X. Multiple transcript variants encoding different isoforms have been found for this gene.A missense mutation in the CALM1 gene has been associated with ventricular tachycardia.[provided by RefSeq, May 2020]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Gencode Transcript: ENST00000356978.9
Gencode Gene: ENSG00000198668.14
Transcript (Including UTRs)
   Position: hg38 chr14:90,397,029-90,408,268 Size: 11,240 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg38 chr14:90,397,231-90,404,717 Size: 7,487 Coding Exon Count: 6 

Page IndexSequence and LinksPrimersMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsPathwaysOther Names
GeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:90,397,029-90,408,268)mRNA (may differ from genome)Protein (149 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGImyGene2
neXtProtOMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CALM1
Diseases sorted by gene-association score: long qt syndrome 14* (1330), ventricular tachycardia, catecholaminergic polymorphic, 4* (830), catecholaminergic polymorphic ventricular tachycardia* (183), calm1-related catecholaminergic polymorphic ventricular tachycardia* (100), long qt syndrome 1* (94), cardiac arrest (16), long qt syndrome (13), otomycosis (11), external ear disease (11), pertussis (10), cardiomyopathy, dilated, 1p (10), otitis externa (9), leber congenital amaurosis 2 (9), idiopathic scoliosis (8), acute dacryocystitis (8), long qt syndrome 15 (7), primary cutaneous amyloidosis (7), deafness, autosomal recessive 44 (7), primary systemic mycosis (7), sporotrichosis (7), hemolytic anemia due to triosephosphate isomerase deficiency (7), adolescent idiopathic scoliosis (7), dystonia 24 (6), spontaneous ocular nystagmus (6), syncope (6), myotonia (6), gestational choriocarcinoma (5), cardiomyopathy, dilated, 1a (5), proliferative fasciitis (4), clear cell acanthoma (4), low compliance bladder (4), deafness, autosomal dominant 2a (4), scoliosis (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 574.14 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 8042.64 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -87.90202-0.435 Picture PostScript Text
3' UTR -1002.703551-0.282 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
      
      
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  JC051453 - Sequence 5 from Patent WO2013153214.
JC051457 - Sequence 9 from Patent WO2013153214.
JC051460 - Sequence 12 from Patent WO2013153214.
BC011834 - Homo sapiens calmodulin 1 (phosphorylase kinase, delta), mRNA (cDNA clone MGC:20018 IMAGE:3942245), complete cds.
BC047523 - Homo sapiens calmodulin 1 (phosphorylase kinase, delta), mRNA (cDNA clone IMAGE:4819353).
AH005375 - Homo sapiens Human calmodulin-I (CALM1) mRNA, 5'UTR, partial sequence.
BC000454 - Homo sapiens calmodulin 1 (phosphorylase kinase, delta), mRNA (cDNA clone MGC:8460 IMAGE:2821489), complete cds.
BC008597 - Homo sapiens calmodulin 1 (phosphorylase kinase, delta), mRNA (cDNA clone MGC:17489 IMAGE:3452971), complete cds.
AK289937 - Homo sapiens cDNA FLJ75174 complete cds, highly similar to Homo sapiens calmodulin 1 (phosphorylase kinase, delta), mRNA.
M27319 - Human calmodulin mRNA, complete cds.
L37715 - Homo sapiens (clone 22) macronuclear mRNA.
JD187146 - Sequence 168170 from Patent EP1572962.
JD466811 - Sequence 447835 from Patent EP1572962.
AY189287 - Homo sapiens LP7057 protein mRNA, complete cds.
BC007965 - Homo sapiens calmodulin 1 (phosphorylase kinase, delta), mRNA (cDNA clone MGC:14464 IMAGE:4308380), complete cds.
BT006818 - Homo sapiens calmodulin 1 (phosphorylase kinase, delta) mRNA, complete cds.
KJ896533 - Synthetic construct Homo sapiens clone ccsbBroadEn_05927 CALM1 gene, encodes complete protein.
KJ905153 - Synthetic construct Homo sapiens clone ccsbBroadEn_14558 CALM1 gene, encodes complete protein.
KJ904427 - Synthetic construct Homo sapiens clone ccsbBroadEn_13821 CALM1 gene, encodes complete protein.
JD097116 - Sequence 78140 from Patent EP1572962.
BX537677 - Homo sapiens mRNA; cDNA DKFZp686K05204 (from clone DKFZp686K05204).
DL491437 - Novel nucleic acids.
DL490058 - Novel nucleic acids.
JD360025 - Sequence 341049 from Patent EP1572962.
JD341250 - Sequence 322274 from Patent EP1572962.
BX648223 - Homo sapiens mRNA; cDNA DKFZp779O0624 (from clone DKFZp779O0624).
JD566375 - Sequence 547399 from Patent EP1572962.
JD042486 - Sequence 23510 from Patent EP1572962.
JD352155 - Sequence 333179 from Patent EP1572962.
JD469806 - Sequence 450830 from Patent EP1572962.
JD044779 - Sequence 25803 from Patent EP1572962.
JD496726 - Sequence 477750 from Patent EP1572962.
JD231650 - Sequence 212674 from Patent EP1572962.
JD528541 - Sequence 509565 from Patent EP1572962.
JD236021 - Sequence 217045 from Patent EP1572962.
JD521599 - Sequence 502623 from Patent EP1572962.
JD379074 - Sequence 360098 from Patent EP1572962.
JD499261 - Sequence 480285 from Patent EP1572962.
JD190122 - Sequence 171146 from Patent EP1572962.
JD382631 - Sequence 363655 from Patent EP1572962.
JD231440 - Sequence 212464 from Patent EP1572962.
JD492420 - Sequence 473444 from Patent EP1572962.
JD204696 - Sequence 185720 from Patent EP1572962.
JD227408 - Sequence 208432 from Patent EP1572962.
JD038832 - Sequence 19856 from Patent EP1572962.
JD235715 - Sequence 216739 from Patent EP1572962.
JD245259 - Sequence 226283 from Patent EP1572962.
JD038095 - Sequence 19119 from Patent EP1572962.
JD193728 - Sequence 174752 from Patent EP1572962.
JD243808 - Sequence 224832 from Patent EP1572962.
JD328281 - Sequence 309305 from Patent EP1572962.
JD434418 - Sequence 415442 from Patent EP1572962.
JD126366 - Sequence 107390 from Patent EP1572962.
JD109870 - Sequence 90894 from Patent EP1572962.
JD264245 - Sequence 245269 from Patent EP1572962.
JD082393 - Sequence 63417 from Patent EP1572962.
BC042831 - Homo sapiens calmodulin 1 (phosphorylase kinase, delta), mRNA (cDNA clone IMAGE:5301034).
JD201994 - Sequence 183018 from Patent EP1572962.
JD026942 - Sequence 7966 from Patent EP1572962.
JD029032 - Sequence 10056 from Patent EP1572962.
JD374934 - Sequence 355958 from Patent EP1572962.
JD279983 - Sequence 261007 from Patent EP1572962.
JD495556 - Sequence 476580 from Patent EP1572962.
JD494334 - Sequence 475358 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04020 - Calcium signaling pathway
hsa04070 - Phosphatidylinositol signaling system
hsa04114 - Oocyte meiosis
hsa04270 - Vascular smooth muscle contraction
hsa04720 - Long-term potentiation
hsa04722 - Neurotrophin signaling pathway
hsa04740 - Olfactory transduction
hsa04744 - Phototransduction
hsa04910 - Insulin signaling pathway
hsa04912 - GnRH signaling pathway
hsa04916 - Melanogenesis
hsa05010 - Alzheimer's disease
hsa05214 - Glioma

BioCarta from NCI Cancer Genome Anatomy Project
h_At1rPathway - Angiotensin II mediated activation of JNK Pathway via Pyk2 dependent signaling
h_fMLPpathway - fMLP induced chemokine gene expression in HMC-1 cells
h_gpcrPathway - Signaling Pathway from G-Protein Families
h_nfatPathway - NFAT and Hypertrophy of the heart (Transcription in the broken heart)
h_pyk2Pathway - Links between Pyk2 and Map Kinases
h_Ccr5Pathway - Pertussis toxin-insensitive CCR5 Signaling in Macrophage
h_gcrPathway - Corticosteroids and cardioprotection
h_no1Pathway - Actions of Nitric Oxide in the Heart
h_mef2dPathway - Role of MEF2D in T-cell Apoptosis
h_biopeptidesPathway - Bioactive Peptide Induced Signaling Pathway
h_nos1Pathway - Nitric Oxide Signaling Pathway
h_pgc1aPathway - Regulation of PGC-1a
h_vipPathway - Neuropeptides VIP and PACAP inhibit the apoptosis of activated T cells
h_tcrPathway - T Cell Receptor Signaling Pathway
h_bcrPathway - BCR Signaling Pathway
h_calcineurinPathway - Effects of calcineurin in Keratinocyte Differentiation
h_ndkDynaminPathway - Endocytotic role of NDK, Phosphins and Dynamin
h_CaCaMPathway - Ca++/ Calmodulin-dependent Protein Kinase Activation
h_fcer1Pathway - Fc Epsilon Receptor I Signaling in Mast Cells
h_hdacPathway - Control of skeletal myogenesis by HDAC & calcium/calmodulin-dependent kinase (CaMK)

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000356978.1, ENST00000356978.2, ENST00000356978.3, ENST00000356978.4, ENST00000356978.5, ENST00000356978.6, ENST00000356978.7, ENST00000356978.8, NM_006888, P0DP23, uc001xyl.1, uc001xyl.2, uc001xyl.3, uc001xyl.4
UCSC ID: ENST00000356978.9
RefSeq Accession: NM_006888
CCDS: CCDS9892.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene CALM1:
cvt (Catecholaminergic Polymorphic Ventricular Tachycardia)
rws (Long QT Syndrome)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.