CALM1 calmodulin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CALM1provided by HGNC
Official Full Name: calmodulin 1provided by HGNC
Primary source: HGNC:HGNC:1442
See related: Ensembl:ENSG00000198668 MIM:114180; AllianceGenome:HGNC:1442
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: caM; CAM2; CAM3; CAMB; CAMC; CAMI; PHKD; CPVT4; DD132; LQT14; PHKD1; CALML2; CAMIII
Summary: 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]
Expression: Ubiquitous expression in brain (RPKM 439.8), esophagus (RPKM 93.6) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q32.11

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (90396502..90408268)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (84621229..84632993)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (90862846..90874612)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The role of phosphorylation in calmodulin-mediated gating of human AQP0.
Title: The role of phosphorylation in calmodulin-mediated gating of human AQP0.
Calmodulinopathy in Japanese Children - Their Cardiac Phenotypes Are Severe and Show Early Onset in Fetal Life and Infancy.
Title: Calmodulinopathy in Japanese Children　- Their Cardiac Phenotypes Are Severe and Show Early Onset in Fetal Life and Infancy.
Calmodulin Mutations in Human Disease.
Title: Calmodulin Mutations in Human Disease.
Calmodulin variant E140G associated with long QT syndrome impairs CaMKIIdelta autophosphorylation and L-type calcium channel inactivation.
Title: Calmodulin variant E140G associated with long QT syndrome impairs CaMKIIδ autophosphorylation and L-type calcium channel inactivation.
CALM1 rs3179089 polymorphism might contribute to coronary artery disease susceptibility in Chinese male: a case-control study.
Title: CALM1 rs3179089 polymorphism might contribute to coronary artery disease susceptibility in Chinese male: a case-control study.
Time-resolved DEER EPR and solid-state NMR afford kinetic and structural elucidation of substrate binding to Ca(2+)-ligated calmodulin.
Title: Time-resolved DEER EPR and solid-state NMR afford kinetic and structural elucidation of substrate binding to Ca(2+)-ligated calmodulin.
Plasma proteomics analysis of adolescent idiopathic scoliosis patients revealed by Quadrupole-Orbitrap mass spectrometry.
Title: Plasma proteomics analysis of adolescent idiopathic scoliosis patients revealed by Quadrupole-Orbitrap mass spectrometry.
Subtype Differences in the Interaction of HIV-1 Matrix with Calmodulin: Implications for Biological Functions.
Title: Subtype Differences in the Interaction of HIV-1 Matrix with Calmodulin: Implications for Biological Functions.
Structural dynamics of the complex of calmodulin with a minimal functional construct of eukaryotic elongation factor 2 kinase and the role of Thr348 autophosphorylation.
Title: Structural dynamics of the complex of calmodulin with a minimal functional construct of eukaryotic elongation factor 2 kinase and the role of Thr348 autophosphorylation.
Elementary mechanisms of calmodulin regulation of NaV1.5 producing divergent arrhythmogenic phenotypes.
Title: Elementary mechanisms of calmodulin regulation of Na(V)1.5 producing divergent arrhythmogenic phenotypes.

Submit: New GeneRIF Correction See all GeneRIFs (209)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Catecholaminergic polymorphic ventricular tachycardia 4 MedGen: C3554047 OMIM: 614916 GeneReviews: Catecholaminergic Polymorphic Ventricular Tachycardia	Compare labs
Long QT syndrome 14 MedGen: C4015671 OMIM: 616247 GeneReviews: Long QT Syndrome Overview	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2023-12-12) ClinGen Genome Curation Page Haploinsufficency No evidence available (Last evaluated 2023-12-12) ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	The calmodulin-binding domains in HIV-1 gp160 are involved in Fas-mediated apoptosis	PubMed
	env	The carboxyl-terminal domains (residues 768-788 and 826-854) of HIV-1 gp160 bind to calmodulin (CaM)	PubMed
Envelope transmembrane glycoprotein gp41	env	The carboxyl terminus (amino acid residues 768-788 and 828-855) of HIV-1 gp41 binds efficiently to purified calmodulin (CaM) and inhibits in vitro CaM-mediated stimulation of phosphodiesterase activity	PubMed
	env	The fusion between CD4+ human cells and cells stably expressing HIV-1 gp41 and gp120 is inhibited by calmodulin	PubMed
Nef	nef	HIV-1 Nef induces interleukin 10 expression through an interaction with the calcium/calmodulin-dependent phosphodiesterase signal transduction pathway	PubMed
	nef	HIV-1 Nef-induced CCL-2/MCP-1 upregulation in astrocytes depends on the myristoylation moiety (residues 2-3) of Nef and requires functional calmodulin	PubMed
	nef	Interaction of HIV-1 Nef with calmodulin has been shown by coimmunoprecipitation analyses with lysates from NIH3T3 cells expressing Nef; a myristoylated 20 amino-acid peptide of Nef binds to calmodulin with higher affinity than the nonmyristoylated form	PubMed
	nef	Fluorescence spectroscopy analyses indicate the myristoylated N-terminal eight amino acids of HIV-1 Nef directly interact with calcium bound calmodulin	PubMed
Tat	tat	Calmodulin and calmodulin-dependent protein kinase-II (CaMK-II)-activated p38 MAPK play a role in extracellular Tat-induced IL-10 expression in primary human monocytes	PubMed
matrix	gag	HIV-1 MA-(8-43) binds to CaM in a manner similar to that observed for the full-length MA protein, and that the CaM protein is in an anti-parallel mode	PubMed
	gag	An HIV-1 MA peptide (residues 8-43) binds to CaM with a very high affinity with dissociation constant 25 nm	PubMed
	gag	The two buried tryptophan's (W16 and W36), which located in the first two alpha-helices of MA, mediate the calmodulin interaction	PubMed
	gag	Calmodulin (CaM) binding to HIV-1 MA induces the extrusion of the myristate group, suggesting that hydrophobic contacts between CaM and MA are critical for binding	PubMed
	gag	Calmodulin binds to both HIV-1 Gag and Matrix proteins through an extended calmodulin-binding domain in Matrix (amino acids 11-46)	PubMed
retropepsin	gag-pol	Calcium-depleted calmodulin can be cleaved at phe65-pro66 and met71-met72 by HIV-1 protease	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G06214 (e-PCR)
- UniSTS:24581

RH11243 (e-PCR)
- UniSTS:24582

GDB:433805 (e-PCR)
- UniSTS:157197

D14S98E (e-PCR)
- UniSTS:147484

RH11167 (e-PCR)
- UniSTS:77599

WI-18834 (e-PCR)
- UniSTS:36651

D14S642E (e-PCR)
- UniSTS:11318

D14S1231 (e-PCR)
- UniSTS:69176

D14S89E (e-PCR)
- UniSTS:147526

G54145 (e-PCR)
- UniSTS:109382

D14S901 (e-PCR)
- UniSTS:42830

IB3608 (e-PCR)
- UniSTS:53368

RH130082 (e-PCR)
- UniSTS:213370

Calm1 (e-PCR), detects polymorphism
- UniSTS:506762

D14S98E (e-PCR)
- UniSTS:58767

SSC3C06 (e-PCR)
- UniSTS:253869

EST13B3 (e-PCR)
- UniSTS:263093

D14S89E (e-PCR)
- UniSTS:17090

D14S89E (e-PCR)
- UniSTS:147442

SHGC-30527 (e-PCR)
- UniSTS:33778

1928 (e-PCR)
- UniSTS:47094

RH70561 (e-PCR)
- UniSTS:72957

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables adenylate cyclase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables calcium channel inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables calcium-dependent protein binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein phosphatase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables protein serine/threonine kinase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables protein serine/threonine kinase activator activity	TAS Traceable Author Statement more info	PubMed
enables titin binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane transporter binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in G2/M transition of mitotic cell cycle	IEA Inferred from Electronic Annotation more info
involved_in autophagosome membrane docking	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to interferon-beta	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to type II interferon	IDA Inferred from Direct Assay more info	PubMed
involved_in detection of calcium ion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrion-endoplasmic reticulum membrane tethering	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of calcium ion export across plasma membrane	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of high voltage-gated calcium channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of peptidyl-threonine phosphorylation	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of ryanodine-sensitive calcium-release channel activity	IDA Inferred from Direct Assay more info	PubMed
involved_in organelle localization by membrane tethering	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cyclic-nucleotide phosphodiesterase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of peptidyl-threonine phosphorylation	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of phosphoprotein phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein autophosphorylation	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of protein dephosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein serine/threonine kinase activity	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of receptor signaling pathway via JAK-STAT	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of ryanodine-sensitive calcium-release channel activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of ryanodine-sensitive calcium-release channel activity	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of calcium-mediated signaling	IEA Inferred from Electronic Annotation more info
involved_in regulation of cardiac muscle cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cardiac muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IC Inferred by Curator more info
involved_in regulation of cell communication by electrical coupling involved in cardiac conduction	IC Inferred by Curator more info
involved_in regulation of cytokinesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of heart rate	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of ryanodine-sensitive calcium-release channel activity	IDA Inferred from Direct Assay more info	PubMed
involved_in response to calcium ion	IDA Inferred from Direct Assay more info	PubMed
involved_in substantia nigra development	HEP more info	PubMed

Component	Evidence Code	Pubs
part_of calcium channel complex	IDA Inferred from Direct Assay more info	PubMed
part_of catalytic complex	IDA Inferred from Direct Assay more info	PubMed
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular region	TAS Traceable Author Statement more info
located_in myelin sheath	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	HDA more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
located_in sarcomere	IDA Inferred from Direct Assay more info	PubMed
located_in sperm midpiece	IEA Inferred from Electronic Annotation more info
located_in spindle microtubule	IDA Inferred from Direct Assay more info	PubMed
located_in spindle pole	IDA Inferred from Direct Assay more info	PubMed
located_in vesicle	HDA more info	PubMed
part_of voltage-gated potassium channel complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: calmodulin-1

Names: Calmodulin-2; Calmodulin-3; calmodulin 1 (phosphorylase kinase, delta); phosphorylase kinase subunit delta; phosphorylase kinase subunit delta 1; phosphorylase kinase, delta subunit; prepro-calmodulin 1

NP_001350598.1

EC 2.7.11.19

NP_001350599.1

EC 2.7.11.19

NP_008819.1

EC 2.7.11.19

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_013338.1 RefSeqGene

Range

5047..16286

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001363669.2 → NP_001350598.1 calmodulin-1 isoform 3

Status: REVIEWED

Source sequence(s)

AL512791, DA059080

Consensus CDS

CCDS91917.1

UniProtKB/TrEMBL

A0A9K3Y7M0, D6W5B3, E7ETZ0, H0Y7A7, Q96HY3

Related

ENSP00000442853.2, ENST00000544280.6

Conserved Domains (1) summary

PTZ00184
Location:1 → 113

PTZ00184; calmodulin; Provisional
NM_001363670.2 → NP_001350599.1 calmodulin-1 isoform 1

Status: REVIEWED

Source sequence(s)

AL512791

UniProtKB/TrEMBL

B2RDW0

Conserved Domains (1) summary

PTZ00184
Location:3 → 150

PTZ00184; calmodulin; Provisional
NM_006888.6 → NP_008819.1 calmodulin-1 isoform 2

See identical proteins and their annotated locations for NP_008819.1

Status: REVIEWED

Source sequence(s)

AI651063, AL512791, AU122722, BC011834

Consensus CDS

CCDS9892.1

UniProtKB/Swiss-Prot

P02593, P0DP23, P0DP24, P0DP25, P62158, P70667, P99014, Q13942, Q53S29, Q61379, Q61380, Q96HK3

UniProtKB/TrEMBL

B2RDW0, B4DJ51

Related

ENSP00000349467.4, ENST00000356978.9

Conserved Domains (1) summary

PTZ00184
Location:1 → 149

PTZ00184; calmodulin; Provisional

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000014.9 Reference GRCh38.p14 Primary Assembly

Range

90396502..90408268

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060938.1 Alternate T2T-CHM13v2.0

Range

84621229..84632993

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001166106.1: Suppressed sequence

Description

NM_001166106.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.