Free for academic non-profit institutions. Other users need a Commercial license
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 mut... See more...
Aliases for CALM1 Gene
Aliases for CALM1 Gene
External Ids for CALM1 Gene
- HGNC: 1442
- NCBI Entrez Gene: 801
- Ensembl: ENSG00000198668
- OMIM®: 114180
- UniProtKB/Swiss-Prot: P0DP23
Previous HGNC Symbols for CALM1 Gene
- CALML2
Previous GeneCards Identifiers for CALM1 Gene
- GC14P088369
- GC14P084679
- GC14P088853
- GC14P089933
- GC14P090863
- GC14P071038
Summaries for CALM1 Gene
-
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]
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 Downstream signaling events of B Cell Receptor (BCR) and Physiological and Pathological Hypertrophy of the Heart. 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). Is a regulator of voltage-dependent L-type calcium channels (PubMed:31454269). Mediates calcium-dependent inactivation of CACNA1C (PubMed:26969752). Positively regulates calcium-activated potassium channel activity of KCNN2 (PubMed:27165696). Forms a potassium channel complex with KCNQ1 and regulates electrophysiological activity of the channel via calcium-binding (PubMed:25441029).
-
(Microbial infection) Required for Legionella pneumophila SidJ glutamylase activity.
Additional gene information for CALM1 Gene
- HGNC (1442)
- NCBI Entrez Gene (801)
- Ensembl (ENSG00000198668)
- OMIM® (114180)
- UniProtKB/Swiss-Prot (P0DP23)
- Open Targets Platform(ENSG00000198668)
- Monarch Initiative
- Search for CALM1 at DataMed
- Search for CALM1 at HumanCyc
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 Pubs
Promoters and enhancers for CALM1 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path
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
Latest Assembly
- chr14:90,396,502-90,408,268
- (GRCh38/hg38)
- Size:
- 11,767 bases
- Orientation:
- Plus strand
Previous Assembly
- chr14:90,862,846-90,874,612
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 11,767 bases
- Orientation:
- Plus strand
- chr14:90,862,846-90,874,605
- (GRCh37/hg19 by Ensembl)
- Size:
- 11,760 bases
- Orientation:
- Plus strand
Genomic View for CALM1 Gene
Genes around CALM1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 14q32.11 by HGNC
- 14q32.11 by Entrez Gene
- 14q32.11 by Ensembl
CALM1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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 in 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). Interacts with KCNN3 (PubMed:31155282). Interacts with KCNQ1 (via C-terminus); forms a heterooctameric structure (with 4:4 KCNQ1:CALM stoichiometry) in a calcium-independent manner (PubMed:18165683,PubMed:25441029).
- (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.
Protein Expression for CALM1 Gene
Post-translational modifications for CALM1 Gene
- Ubiquitination results in a strongly decreased activity.
- Phosphorylation results in a decreased activity.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for CALM1 Gene
Antibodies for research
-
Custom Antibody ServicesOriGene Antibodies for CALM1
- Novus Biologicals Antibodies for CALM1
- Invitrogen Antibodies for CALM1 (AFLGC-Calm1)
- antibodies-online: Show 91 available Calmodulin 1 Antibodies ranked by validation data
- Compare Top Calmodulin 1 Antibodies
-
Recommended
- 89 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 2 FACS Antibodies (anti-mouse)
- 2 IF Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 1 IHC (p) Antibody (anti-mouse)
- 85 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 4 IP Antibodies (anti-rat)
- 2 FACS Antibodies (anti-rat)
- 1 IHC Antibody (anti-rat)
- 1 IHC (p) Antibody (anti-rat)
- 177 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 4 IP Antibodies (anti-human)
- 2 FACS Antibodies (anti-human)
- 2 IF Antibodies (anti-human)
- 2 IHC Antibodies (anti-human)
- 1 IF/ICC Antibody (anti-human)
- 1 IHC (p) Antibody (anti-human)
-
Boster Bio Antibodies for CALM1
-
Santa Cruz Biotechnology (SCBT) Antibodies for CALM1
Protein products for research
-
OriGene Purified Proteins for CALM1
- Search Origene for MassSpec and Protein Over-expression Lysates for CALM1
- Origene Custom Protein Services for CALM1
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
- InterPro:
- ProtoNet:
Graphical View of Domain Structure for InterPro Entry
P0DP23UniProtKB/Swiss-Prot:
CALM1_HUMAN :- The N-terminal and C-terminal lobes of CALM bind to the C-terminus of KCNQ1 in a clamp-like conformation. Binding of CALM C-terminus to KCNQ1 is calcium-independent but is essential for assembly of the structure. Binding of CALM N-terminus to KCNQ1 is calcium-dependent and regulates electrophysiological activity of the channel.
- Belongs to the calmodulin family.
- Domain:
-
- The N-terminal and C-terminal lobes of CALM bind to the C-terminus of KCNQ1 in a clamp-like conformation. Binding of CALM C-terminus to KCNQ1 is calcium-independent but is essential for assembly of the structure. Binding of CALM N-terminus to KCNQ1 is calcium-dependent and regulates electrophysiological activity of the channel.
- Family:
-
- Belongs to the calmodulin family.
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). Is a regulator of voltage-dependent L-type calcium channels (PubMed:31454269). Mediates calcium-dependent inactivation of CACNA1C (PubMed:26969752). Positively regulates calcium-activated potassium channel activity of KCNN2 (PubMed:27165696). Forms a potassium channel complex with KCNQ1 and regulates electrophysiological activity of the channel via calcium-binding (PubMed:25441029).
- 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
| 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 | IPI | 11807546 |
| GO:0010856 | adenylate cyclase activator activity | IDA | 11807546 |
| GO:0016301 | kinase activity | IEA | -- |
Phenotypes for CALM1 Gene
- GenomeRNAi human phenotypes for CALM1:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability
- Decreased viability in esophageal squamous lineage
- shRNA abundance <= 50%
- Reduced mammosphere formation
- Decreased viability ratio
- shRNA abundance <= 25%
- Increased transferrin (TF) endocytosis
- Strongly decreased CFP-tsO45G cell surface transport
- Synthetic lethal with imatinib mesylate
- Increased G1 length
- Decreased G3BP1 protein expression and assembly in stress granules after arsenite stimulation
- Synthetic lethal with gemcitabine
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for CALM1 - Starting at $85 >
- * CALM1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for CALM1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CALM1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CALM1
miRNA for CALM1 Gene
- miRTarBase miRNAs that target CALM1
-
- mmu-miR-1a-3p (MIRT001099)
- rno-miR-1-3p (MIRT007413)
- hsa-miR-1-3p (MIRT024054)
- hsa-let-7f-5p (MIRT053626)
- hsa-miR-129-5p (MIRT071460)
- hsa-miR-450b-5p (MIRT071461)
- hsa-miR-19a-3p (MIRT071480)
- hsa-miR-19b-3p (MIRT071481)
- hsa-miR-579-3p (MIRT071490)
- hsa-miR-595 (MIRT071491)
- hsa-miR-548c-3p (MIRT071492)
- hsa-miR-648 (MIRT071493)
- hsa-miR-664a-3p (MIRT071494)
- hsa-miR-4760-3p (MIRT071497)
- hsa-miR-664b-3p (MIRT071499)
- hsa-miR-548aw (MIRT071500)
- hsa-let-7c-3p (MIRT071501)
- hsa-miR-340-5p (MIRT071502)
- hsa-miR-3123 (MIRT071503)
- hsa-miR-4311 (MIRT071504)
- hsa-miR-4729 (MIRT071507)
- hsa-miR-539-5p (MIRT071515)
- hsa-miR-586 (MIRT114796)
- hsa-miR-196a-5p (MIRT191923)
- hsa-miR-196b-5p (MIRT191924)
- hsa-miR-495-5p (MIRT191943)
- hsa-miR-1305 (MIRT191944)
- hsa-miR-1250-3p (MIRT191945)
- hsa-miR-511-3p (MIRT280390)
- hsa-miR-548a-3p (MIRT405875)
- hsa-miR-548e-3p (MIRT405876)
- hsa-miR-548f-3p (MIRT405877)
- hsa-miR-548ar-3p (MIRT405879)
- hsa-miR-548az-3p (MIRT405880)
- hsa-miR-493-3p (MIRT441025)
- hsa-miR-142-3p (MIRT441026)
- hsa-miR-6867-5p (MIRT507912)
- hsa-miR-382-5p (MIRT507913)
- hsa-miR-3680-3p (MIRT512183)
- hsa-miR-557 (MIRT512184)
- hsa-miR-507 (MIRT512185)
- hsa-miR-4696 (MIRT512186)
- hsa-miR-3163 (MIRT524572)
- hsa-miR-583 (MIRT524573)
- hsa-miR-1276 (MIRT524574)
- hsa-miR-142-5p (MIRT524575)
- hsa-miR-5590-3p (MIRT524576)
- hsa-miR-4659b-3p (MIRT524577)
- hsa-miR-4659a-3p (MIRT524578)
- hsa-miR-4639-5p (MIRT538736)
- hsa-miR-502-5p (MIRT538737)
- hsa-miR-5589-3p (MIRT538738)
- hsa-miR-1915-5p (MIRT538739)
- hsa-miR-6841-3p (MIRT538740)
- hsa-miR-4662a-3p (MIRT538741)
- hsa-miR-3591-3p (MIRT538742)
- hsa-miR-21-3p (MIRT538743)
- hsa-miR-5696 (MIRT549060)
- hsa-miR-1468-3p (MIRT549061)
- hsa-miR-548x-5p (MIRT549062)
- hsa-miR-548g-5p (MIRT549063)
- hsa-miR-548f-5p (MIRT549064)
- hsa-miR-548aj-5p (MIRT549065)
- hsa-miR-1324 (MIRT558970)
- hsa-miR-382-3p (MIRT558971)
- hsa-miR-4538 (MIRT558972)
- hsa-miR-4453 (MIRT558973)
- hsa-miR-6882-5p (MIRT558974)
- hsa-miR-570-5p (MIRT558975)
- hsa-miR-548ba (MIRT558976)
- hsa-miR-548ai (MIRT558977)
- hsa-miR-548ag (MIRT558978)
- hsa-miR-5582-3p (MIRT558979)
- mmu-miR-3470a (MIRT584505)
- mmu-miR-410-3p (MIRT584506)
- mmu-miR-344d-3p (MIRT584507)
- mmu-miR-344e-3p (MIRT584509)
- rno-let-7a-5p (MIRT733018)
- rno-miR-181d-3p (MIRT735299)
- hsa-miR-3148 (MIRT765008)
- hsa-miR-4668-5p (MIRT770848)
- hsa-miR-4777-5p (MIRT772233)
- hsa-miR-518d-5p (MIRT773592)
- hsa-miR-518e-5p (MIRT773595)
- hsa-miR-518f-5p (MIRT773598)
- hsa-miR-519a-5p (MIRT773686)
- hsa-miR-519b-5p (MIRT773700)
- hsa-miR-519c-5p (MIRT773714)
- hsa-miR-520c-5p (MIRT773795)
- hsa-miR-520g-5p (MIRT773858)
- hsa-miR-522-5p (MIRT773893)
- hsa-miR-523-5p (MIRT773896)
- hsa-miR-526a (MIRT773909)
- hsa-miR-625-5p (MIRT776111)
- hsa-miR-6795-5p (MIRT779347)
- hsa-miR-6873-5p (MIRT780714)
- hsa-miR-6887-5p (MIRT781070)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CALM1
- Browse OriGene Inhibitory RNA Products For CALM1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CALM1
Clone products for research
- Applied Biological Materials (abm): Clones for CALM1 - Starting at $45 >
- * CALM1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for CALM1
- Addgene plasmids for CALM1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CALM1
Cell Lines for research
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytoskeleton | 5 |
| extracellular | 4 |
| nucleus | 4 |
| cytosol | 4 |
| mitochondrion | 3 |
| endoplasmic reticulum | 2 |
| peroxisome | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000922 | spindle pole | IEA,IDA | 16760425 |
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005634 | nucleus | IEA,HDA | 21630459 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005737 | cytoplasm | TAS | 10899953 |
Pathways & Interactions for CALM1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | RET signaling |
.92
|
.92
|
| 2 | DAG and IP3 signaling |
.93
|
Signal transduction Calcium signaling
.35
Development Beta-adrenergic receptors signaling via cAMP
.32
|
| 3 | Post NMDA receptor activation events | ||
| 4 | Development Angiotensin activation of ERK |
Development ACM2 and ACM4 activation of ERK
.73
Development Angiotensin activation of ERK
.73
Development Angiotensin signaling via PYK2
.68
|
Development G-Proteins mediated regulation MARK-ERK signaling
.65
Cell adhesion Integrin inside-out signaling
.45
Signal transduction IP3 signaling
.40
|
| 5 | Development Endothelin-1/EDNRA signaling |
Development Endothelin-1/EDNRA signaling
.41
Development Endothelin-1/EDNRA transactivation of EGFR
.41
Cytoskeleton remodeling FAK signaling
.41
|
|
Pathways by source for CALM1 Gene
3 Sino Biological pathways for CALM1 Gene
31 BioSystems pathways for CALM1 Gene
128 Reactome pathways for CALM1 Gene
42 KEGG pathways 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
3 R&D Systems pathways for CALM1 Gene
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
Interacting Proteins for CALM1 Gene
GPS-Prot Interaction Network for CALM1
SIGNOR curated interactions 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:0000226 | microtubule cytoskeleton organization | IBA | -- |
| GO:0001975 | response to amphetamine | IEA | -- |
| GO:0002027 | regulation of heart rate | IMP | 23040497 |
Drugs & Compounds for CALM1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Bepridil | Approved, Withdrawn | Pharma | Target, binder, blocker | 0 | ||
| Flunarizine | Approved | Pharma | Target, antagonist, blocker | 9 | ||
| Dibucaine | Approved, Vet_approved | Pharma | Target, inhibitor | 0 | ||
| Felodipine | Approved, Investigational | Pharma | Target, other | 24 | ||
| Fluphenazine | Approved | Pharma | Target, inhibitor | 17 |
Transcripts for CALM1 Gene
mRNA/cDNA for CALM1 Gene
- 4 REFSEQ mRNAs :
- 18 NCBI additional mRNA sequence :
- 18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000356978 4203 nts (view in UCSC)
- ENST00000447653 1104 nts (view in UCSC)
- ENST00000544280 1064 nts (view in UCSC)
- ENST00000553422 438 nts (view in UCSC)
- ENST00000553542 877 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for CALM1 - Starting at $85 >
- * CALM1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for CALM1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CALM1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CALM1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CALM1
- Browse OriGene Inhibitory RNA Products For CALM1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CALM1
Clone products for research
- Applied Biological Materials (abm): Clones for CALM1 - Starting at $45 >
- * CALM1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for CALM1
- Addgene plasmids for CALM1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CALM1
| 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
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CALM1
SOURCE GeneReport for Unigene cluster for CALM1 Gene:
Hs.282410Evidence on tissue expression from TISSUES for CALM1 Gene
- Nervous system(5)
- Lung(4.9)
- Blood(4.7)
- Liver(4.7)
- Pancreas(4.1)
- Intestine(4.1)
- Heart(4)
- Skin(4)
- Kidney(3.8)
- Muscle(3.6)
- Eye(3.4)
- Stomach(3)
- Bone marrow(2.9)
- Lymph node(2.8)
- Spleen(2.7)
- Adrenal gland(2.6)
- Thyroid gland(2.4)
- Gall bladder(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
Primer products for research
-
OriGene qPCR primer pairs for CALM1
-
OriGene qPCR primer pairs and template standards for CALM1
Gene Expression Assays for research
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Platypus (Ornithorhynchus anatinus) |
Mammalia | CALM1 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | CALM1 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | CALM1 31 |
|
OneToOne | |
| Chimpanzee (Pan troglodytes) |
Mammalia | CALM3 31 |
|
OneToOne | |
| CALM2 30 |
|
||||
| Mouse (Mus musculus) |
Mammalia | Calm1 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | CALM 30 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | CALM 31 |
|
OneToOne | |
| CALM1 30 |
|
||||
| Lizard (Anolis carolinensis) |
Reptilia | CALM1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.10372 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | calm3b 31 |
|
ManyToMany | |
| calm3a 31 |
|
ManyToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Cam 31 32 |
|
OneToMany | |
| And 32 |
|
|
|||
| CG11165 32 |
|
|
|||
| Mlc-c 32 |
|
|
|||
| TpnC41C 32 |
|
|
|||
| Worm (Caenorhabditis elegans) |
Secernentea | cmd-1 31 32 |
|
ManyToMany | |
| cal-6 31 |
|
ManyToMany | |||
| Y73B3A.12 32 |
|
|
|||
| cal-1 32 |
|
|
|||
| cal-2 32 |
|
|
|||
| cal-3 32 |
|
|
|||
| cal-4 32 |
|
|
|||
| F12A10.5 32 |
|
|
|||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CMD1 33 |
|
|
|
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | CAM7 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os07g0687200 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10340 31 |
|
OneToMany | |
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU04120 30 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | cam1 30 |
|
- Species where no ortholog for CALM1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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
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
- CALM2
- CALML3
- CALM3
- CALML5
- CETN1
- TNNC2
- CETN2
- TNNC1
- CALN1
- CABP1
- MYL9
- MYL12B
- CABP5
- CALML6
- CABP2
- MYL6
- MYL1
- MYL4
- MYL3
- MYL12A
- MYL5
- EFCAB2
- OCM
- MYL2
- CABP4
- NCALD
- CALML4
- OCM2
- CETN3
- MYLPF
- MYL10
- MYL6B
- HZGJ
- PPP3R1
- PPP3R2
- ACTN2
- AIF1
- PVALB
- ACTN4
- MYL7
- SLC25A24
- EFCAB7
- ACTN3
- ACTN1
- SPTAN1
- DUOX1
- GUCA1B
- DKFZp686E1183
- HPCAL1
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 |
|---|---|---|---|---|---|
| 845207 | Uncertain Significance: Ventricular tachycardia, catecholaminergic polymorphic, 4; Long QT syndrome 14 | 90,401,330(+) |
G/C NM_006888.6(CALM1):c.106G>C (p.Val36Leu) |
MISSENSE_VARIANT,FIVE_PRIME_UTR | |
| 945682 | Uncertain Significance: Ventricular tachycardia, catecholaminergic polymorphic, 4; Long QT syndrome 14 | 90,403,963(+) |
G/C NM_006888.6(CALM1):c.280G>C (p.Asp94His) |
MISSENSE | |
| 948239 | Pathogenic: Ventricular tachycardia, catecholaminergic polymorphic, 4; Long QT syndrome 14 | 90,404,488(+) |
A/T NM_006888.6(CALM1):c.395A>T (p.Asp132Val) |
MISSENSE | |
| 961658 | Pathogenic: Ventricular tachycardia, catecholaminergic polymorphic, 4; Long QT syndrome 14 | 90,404,693(+) |
C/A NM_006888.6(CALM1):c.426C>A (p.Phe142Leu) |
MISSENSE | |
| rs1057521851 | Likely Pathogenic: not provided | 90,401,312(+) |
A/C NM_006888.6(CALM1):c.88A>C (p.Thr30Pro) |
MISSENSE_VARIANT,FIVE_PRIME_UTR |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3635309 | CNV | gain | 21293372 |
| nsv1069812 | CNV | deletion | 25765185 |
| nsv1131072 | CNV | deletion | 24896259 |
| nsv983850 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
53.6% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CALM1 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CALM1 Gene
Disorders for CALM1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| long qt syndrome 14 |
|
|
| ventricular tachycardia, catecholaminergic polymorphic, 4 |
|
|
| catecholaminergic polymorphic ventricular tachycardia |
|
|
| long qt syndrome 1 |
|
|
| familial long qt syndrome |
|
Search CALM1 in MalaCards
View complete list of genes associated with diseases
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 variants 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:25036739, ECO:0000269 PubMed:26164367, ECO:0000269 PubMed:26969752, ECO:0000269 PubMed:27165696, ECO:0000269 PubMed:28158429, ECO:0000269 PubMed:31454269}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for CALM1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for CALM1 Gene
Publications for CALM1 Gene
- 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 74
- Calmodulin mutations associated with recurrent cardiac arrest in infants. (PMID: 23388215) Crotti L … George AL (Circulation 2013) 3 4 74
- Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death. (PMID: 23040497) Nyegaard M … Børglum AD (American journal of human genetics 2012) 3 4 74
- Isolation and nucleotide sequence of a cDNA encoding human calmodulin. (PMID: 6385987) Wawrzynczak EJ … Perham RN (Biochemistry international 1984) 2 3 4
- Genetic Mosaicism in Calmodulinopathy. (PMID: 31454269) Wren LM … George AL (Circulation. Genomic and precision medicine 2019) 3 4
ExternalLinks
Products for CALM1 Gene
- Custom Antibody ServicesOriGene Antibodies for CALM1
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for CALM1
- Search Origene for MassSpec and Protein Over-expression Lysates for CALM1
- Origene Custom Protein Services for CALM1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CALM1
- Browse OriGene Inhibitory RNA Products For CALM1
- OriGene qPCR primer pairs for CALM1
- OriGene qPCR primer pairs and template standards for CALM1
- OriGene CRISPR knockouts for CALM1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For CALM1
- Sino Biological Human cDNA Clone for CALM1
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for CALM1
- Novus Biologicals proteins and lysates for CALM1
- Novus Biologicals ELISA Kits for CALM1
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Invitrogen Antibodies for CALM1 (AFLGC-Calm1)
- VectorBuilder Custom and pre-made DNA vectors for CALM1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for CALM1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for CALM1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for CALM1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for CALM1
- Addgene plasmids for CALM1
- antibodies-online: Show 91 available Calmodulin 1 Antibodies ranked by validation data
- Compare Top Calmodulin 1 Antibodies
- Recommended
- 89 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 2 FACS Antibodies (anti-mouse)
- 2 IF Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 1 IHC (p) Antibody (anti-mouse)
- 85 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 4 IP Antibodies (anti-rat)
- 2 FACS Antibodies (anti-rat)
- 1 IHC Antibody (anti-rat)
- 1 IHC (p) Antibody (anti-rat)
- 177 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 4 IP Antibodies (anti-human)
- 2 FACS Antibodies (anti-human)
- 2 IF Antibodies (anti-human)
- 2 IHC Antibodies (anti-human)
- 1 IF/ICC Antibody (anti-human)
- 1 IHC (p) Antibody (anti-human)
- antibodies-online: Show 47 available Calmodulin 1 Elisa Kits ranked by validation data
- Compare Top Calmodulin 1 Elisa Kits
- antibodies-online: Show 29 available Calmodulin 1 Proteins ranked by validation data
- Compare Top Calmodulin 1 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for CALM1