CASQ1 calsequestrin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CASQ1provided by HGNC
Official Full Name: calsequestrin 1provided by HGNC
Primary source: HGNC:HGNC:1512
See related: Ensembl:ENSG00000143318 MIM:114250; AllianceGenome:HGNC:1512
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: CASQ; CSQ1; PDIB1; VMCQA
Summary: This gene encodes the skeletal muscle specific member of the calsequestrin protein family. Calsequestrin functions as a luminal sarcoplasmic reticulum calcium sensor in both cardiac and skeletal muscle cells. This protein, also known as calmitine, functions as a calcium regulator in the mitochondria of skeletal muscle. This protein is absent in patients with Duchenne and Becker types of muscular dystrophy. [provided by RefSeq, Jun 2013]
Expression: Biased expression in esophagus (RPKM 21.8), prostate (RPKM 18.0) and 6 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q23.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (160190575..160201886)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (159327652..159338962)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (160160365..160171676)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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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?

This study showed that twenty-two CASQ1-mutated patients (12 families) were identified, 21 sharing the previously described founder mutation (p.Asp244Gly) and 1 with the p.Gly103Asp mutation.
Title: The clinical spectrum of CASQ1-related myopathy.
These results widen the spectrum of skeletal muscle diseases associated with CASQ1 and indicate that these mutations affect properties critical for correct Ca(2+) handling in skeletal muscle fibers.
Title: Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy.
the p.D244G variant in CASQ1 is associated with a skeletal muscle disease and alters sarcoplasmic calcium release
Title: A Calsequestrin-1 Mutation Associated with a Skeletal Muscle Disease Alters Sarcoplasmic Ca2+ Release.
Calsequestrin-1 monomers suppress Store-Operated Ca2+ Entry by interacting with STIM1 and attenuating STIM1 aggregation via its C-terminal amino acid 362-396.
Title: Calsequestrin-1 Regulates Store-Operated Ca2+ Entry by Inhibiting STIM1 Aggregation.
the protein aggregate myopathy with benign evolution and muscle inclusions composed of excess CASQ1 due to the D244G heterozygous missense mutation in the CASQ1 gene
Title: A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia.
Equilibrium dialysis and turbidity measurements showed that D244G and, to a lesser extent, M87T partially lose Ca(2+) binding exhibited by wild type calsequestrin 1 at high Ca(2+) concentrations.
Title: Characterization of Two Human Skeletal Calsequestrin Mutants Implicated in Malignant Hyperthermia and Vacuolar Aggregate Myopathy.
Missense mutation in CASQ1 gene causes the formation of abnormal sarcoplasmic reticulum (SR) vacuoles containing aggregates of CASQ1 results in altered Ca2+ release, and vacuolar myopathy patients phenotype.
Title: A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates.
There is a significant association between SNP A175G and heat stroke.
Title: An association study of CASQ1 gene polymorphisms and heat stroke.
The sarcoplasmic reticulum calcium content in human type II fibres is primarily determined by the CSQ1 abundance, and in type I fibres, by the combined amounts of both CSQ1 and CSQ2.
Title: Endogenous and maximal sarcoplasmic reticulum calcium content and calsequestrin expression in type I and type II human skeletal muscle fibres.
a direct interaction of dysferlin with Trim72/MG53, AHNAK, cytoplasmic dynein, myomesin-2 and calsequestrin-1, but not with caveolin-3 or dystrophin, is reported.
Title: Dysferlin interacts with calsequestrin-1, myomesin-2 and dynein in human skeletal muscle.

Submit: New GeneRIF Correction See all GeneRIFs (20)

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
Myopathy due to calsequestrin and SERCA1 protein overload MedGen: C4015624 OMIM: 616231 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH64698 (e-PCR)
- UniSTS:15169

RH79623 (e-PCR)
- UniSTS:92569

RH17912 (e-PCR)
- UniSTS:19649

Gene Ontology Provided by GOA

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 identical protein binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in endoplasmic reticulum organization	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of release of sequestered calcium ion into cytosol	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of store-operated calcium channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein polymerization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of store-operated calcium entry	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to denervation involved in regulation of muscle adaptation	IEA Inferred from Electronic Annotation more info
involved_in response to heat	IEA Inferred from Electronic Annotation more info
involved_in response to organic substance	IEA Inferred from Electronic Annotation more info
involved_in sarcomere organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in skeletal muscle tissue development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in T-tubule	IEA Inferred from Electronic Annotation more info
is_active_in Z disc	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial matrix	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrion	HDA more info	PubMed
located_in sarcoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
is_active_in sarcoplasmic reticulum lumen	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcoplasmic reticulum lumen	ISS Inferred from Sequence or Structural Similarity more info
located_in sarcoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in smooth endoplasmic reticulum	TAS Traceable Author Statement more info	PubMed
located_in terminal cisterna lumen	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: calsequestrin-1

Names: calmitin; calmitine; calsequestrin 1 (fast-twitch, skeletal muscle)

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_042040.1 RefSeqGene

Range

5081..16392

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001231.5 → NP_001222.3 calsequestrin-1 precursor

See identical proteins and their annotated locations for NP_001222.3

Status: REVIEWED

Source sequence(s)

AA197256, BC022289, DA766051

Consensus CDS

CCDS1198.2

UniProtKB/Swiss-Prot

B1AKZ2, B2R863, P31415, Q8TBW7

Related

ENSP00000357057.3, ENST00000368078.8

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