Version 5.4
Mus musculus Gene: Casq1
Summary
InnateDB Gene IDBG-205264.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Casq1
Gene Name calsequestrin 1
Synonyms CSQ; CSQ-1; CSQ1; sCSQ
Species Mus musculus
Ensembl Gene ENSMUSG00000007122
Encoded Proteins
IDBP-205266
calsequestrin 1
IDBP-623348
calsequestrin 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000143318:
The protein encoded by this gene is a mitochondrial calcium-binding protein located in the luminal space of the terminal cisternae of the sarcoplasmic reticulum. The protein binds and putatively stores calcium ions. The protein is absent in patients with Duchenne and Becker types of muscular dystrophy. [provided by RefSeq, Jul 2008]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:172209894-172219868
Strand Reverse strand
Band H3
Transcripts
ENSMUST00000003554 ENSMUSP00000003554
ENSMUST00000170638
ENSMUST00000170700 ENSMUSP00000129647
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0005509 calcium ion binding
Biological Process
GO:0006937 regulation of muscle contraction
GO:0007029 endoplasmic reticulum organization
GO:0007519 skeletal muscle tissue development
GO:0009408 response to heat
GO:0010033 response to organic substance
GO:0010880 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
GO:0014809 regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion
GO:0014870 response to muscle inactivity
GO:0014894 response to denervation involved in regulation of muscle adaptation
GO:0051282 regulation of sequestering of calcium ion
Cellular Component
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005794 Golgi apparatus
GO:0014802 terminal cisterna
GO:0014804 terminal cisterna lumen
GO:0016529 sarcoplasmic reticulum
GO:0030016 myofibril
GO:0030315 T-tubule
GO:0031674 I band
GO:0033018 sarcoplasmic reticulum lumen
GO:0042383 sarcolemma
GO:0043231 intracellular membrane-bounded organelle
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000143318
View Gene Order
ENSBTAG00000020223
Not yet available
Pathways
NETPATH
REACTOME
REACT_196640
Stimuli-sensing channels pathway
REACT_262350
Ion channel transport pathway
REACT_253400
Transmembrane transport of small molecules pathway
KEGG
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
REACT_160189
Stimuli-sensing channels pathway
REACT_15518
Transmembrane transport of small molecules pathway
REACT_25300
Ion channel transport pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt O09165
TrEMBL Q8C7M8
UniProt Splice Variant
Entrez Gene 12372
UniGene Mm.12829
RefSeq NM_009813
OMIM
CCDS CCDS35781
HPRD
IMGT
MGI ID MGI:1309468
MGI Symbol Casq1
EMBL AC074310 AK049865 U93291
GenPept AAC63616 BAC33963
RNA Seq Atlas 12372

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca