Casq1 calsequestrin 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Casq1provided by MGI
Official Full Name: calsequestrin 1provided by MGI
Primary source: MGI:MGI:1309468
See related: Ensembl:ENSMUSG00000007122 AllianceGenome:MGI:1309468
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: CSQ; CSQ1; sCSQ; CSQ-1
Summary: Enables calcium ion binding activity. Involved in sarcomere organization. Acts upstream of or within endoplasmic reticulum organization; regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion; and response to heat. Located in mitochondrial matrix and sarcoplasmic reticulum lumen. Is expressed in several structures, including diaphragm; heart; lung; musculature; and myotome. Human ortholog(s) of this gene implicated in type 2 diabetes mellitus. Orthologous to human CASQ1 (calsequestrin 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in mammary gland adult (RPKM 118.1), heart adult (RPKM 12.4) and 1 other tissue See more
Orthologs: human all
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Genomic context

Location:: 1 H3; 1 79.54 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (172037461..172047462, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (172209894..172219895, complement)

Chromosome 1 - NC_000067.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Constitutive assembly of Ca2+ entry units in soleus muscle from calsequestrin knockout mice.
Title: Constitutive assembly of Ca2+ entry units in soleus muscle from calsequestrin knockout mice.
Calsequestrin 1 Is an Active Partner of Stromal Interaction Molecule 2 in Skeletal Muscle.
Title: Calsequestrin 1 Is an Active Partner of Stromal Interaction Molecule 2 in Skeletal Muscle.
Pathological mechanisms of vacuolar aggregate myopathy arising from a Casq1 mutation.
Title: Pathological mechanisms of vacuolar aggregate myopathy arising from a Casq1 mutation.
Calsequestrin Deletion Facilitates Hippocampal Synaptic Plasticity and Spatial Learning in Post-Natal Development.
Title: Calsequestrin Deletion Facilitates Hippocampal Synaptic Plasticity and Spatial Learning in Post-Natal Development.
Authors hypothesize that the protective effect of aerobic training is essentially mediated by a reduction in oxidative stress during exposure of CASQ1-null mice to adverse environmental conditions.
Title: Aerobic Training Prevents Heatstrokes in Calsequestrin-1 Knockout Mice by Reducing Oxidative Stress.
These results suggest that common molecular mechanisms underlie malignant hyperthermia (MH) crises and exertional HS in mice.-
Title: Strenuous exercise triggers a life-threatening response in mice susceptible to malignant hyperthermia.
Calcium entry activated by ablation of both JP45-CASQ1 and JP45-CASQ2 complexes supports tetanic force development in slow twitch soleus muscles.
Title: Role of the JP45-Calsequestrin Complex on Calcium Entry in Slow Twitch Skeletal Muscles.
Transient knockdown of annexin A6 and calsequestrin 1 protein of high-active mice with vivo-morpholinos resulted in decreased physical activity levels (P = 0.001).
Title: Differential skeletal muscle proteome of high- and low-active mice.
Ca(2+) transients evoked by tetanic stimulation are the result of massive Ca(2+) influx due to enhanced Ca(v)1.1 channel activity, which restores muscle strength in JP45/CASQ1 double knockout mice.
Title: Enhanced dihydropyridine receptor calcium channel activity restores muscle strength in JP45/CASQ1 double knockout mice.
Protein levels of CSQ1, SERCA1, and SERCA2 are re-adjusted in skeletal muscles depending on the demands of diverse exercise training programs.
Title: Specific effects of endurance and sprint training on protein expression of calsequestrin and SERCA in mouse skeletal muscle.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1) 1 citation
Targeted (2)
Endonuclease-mediated (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G64925 (e-PCR)
- UniSTS:225846

G42035 (e-PCR)
- UniSTS:105060

Casq2 (e-PCR), detects polymorphism
- UniSTS:508562

RH133764 (e-PCR)
- UniSTS:217047

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
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 ion binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within endoplasmic reticulum organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of release of sequestered calcium ion into cytosol	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of store-operated calcium channel activity	ISO Inferred from Sequence Orthology more info
involved_in protein polymerization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of muscle contraction	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of sequestering of calcium ion	ISO Inferred from Sequence Orthology more info
involved_in regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of store-operated calcium entry	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to heat	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sarcomere organization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in I band	ISO Inferred from Sequence Orthology more info
located_in T-tubule	ISO Inferred from Sequence Orthology more info
is_active_in Z disc	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial matrix	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HDA more info	PubMed
located_in myofibril	ISO Inferred from Sequence Orthology more info
located_in sarcolemma	ISO Inferred from Sequence Orthology more info
located_in sarcoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in sarcoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in sarcoplasmic reticulum	TAS Traceable Author Statement more info	PubMed
is_active_in sarcoplasmic reticulum lumen	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcoplasmic reticulum lumen	IDA Inferred from Direct Assay more info	PubMed
located_in terminal cisterna	ISO Inferred from Sequence Orthology more info
located_in terminal cisterna lumen	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: calsequestrin-1

Names: calmitine

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.

mRNA and Protein(s)

NM_009813.2 → NP_033943.2 calsequestrin-1 precursor

See identical proteins and their annotated locations for NP_033943.2

Status: VALIDATED

Source sequence(s)

AK049865, AW108209, BC064057, BY772893, CR756967

Consensus CDS

CCDS35781.2

UniProtKB/Swiss-Prot

O09165

UniProtKB/TrEMBL

Q6P3C3

Related

ENSMUSP00000003554.5, ENSMUST00000003554.11

Conserved Domains (4) summary

cd03065
Location:39 → 158

PDI_b_Calsequestrin_N; PDIb family, Calsequestrin subfamily, N-terminal TRX-fold domain; Calsequestrin is the major calcium storage protein in the sarcoplasmic reticulum (SR) of skeletal and cardiac muscle. It stores calcium ions in sufficient quantities (up to 20 mM) to allow ...

cd03066
Location:160 → 261

PDI_b_Calsequestrin_middle; PDIb family, Calsequestrin subfamily, Middle TRX-fold domain; Calsequestrin is the major calcium storage protein in the sarcoplasmic reticulum (SR) of skeletal and cardiac muscle. It stores calcium ions in sufficient quantities (up to 20 mM) to allow ...

cd03074
Location:262 → 381

PDI_b'_Calsequestrin_C; Protein Disulfide Isomerase (PDIb') family, Calsequestrin subfamily, C-terminal TRX-fold domain; Calsequestrin is the major calcium storage protein in the sarcoplasmic reticulum (SR) of skeletal and cardiac muscle. It stores calcium ions in sufficient ...

pfam01216
Location:37 → 386

Calsequestrin; Calsequestrin