• Gene id: 844

Gene Summary

• Gene Symbol: CASQ1   Gene   UCSC   Ensembl
• Aliases: CASQ, PDIB1, VMCQA
• Gene name: calsequestrin 1
• Alternate names: calsequestrin-1, calmitin, calmitine, calsequestrin 1 (fast-twitch, skeletal muscle), calsequestrin, skeletal muscle isoform,
• Gene location: 1q23.2 (160190574: 160201885)     Exons: 11     NC_000001.11
• Gene summary(Entrez): 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, functio
• OMIM: 609217

SNPs

rs55763075

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.11790377C>T
NC_000001.10   g.11850434C>T
NG_013351.1   g.20727G>A
NM_005957.5   c.*303G>A
NM_005957.4   c.*303G>A
NM_001330358.1   c.*303G>A
XM_005263460.5   c.*303G>A
XM_005263460.1   c.*303G>A
XM_005263463.4   c.*303G>A
XM_005263463.1   c.*303G>A
XM_0  

rs35397110

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.133027131G>A
NC_000023.11   g.133027131G>T
NC_000023.10   g.132161159G>A
NC_000023.10   g.132161159G>T
NG_013268.1   g.6142C>T
NG_013268.1   g.6142C>A
NM_031907.2   c.1090C>T
NM_031907.2   c.1090C>A
NM_031907.1   c.1090C>T
NM_031907.1   c.1090C>A
XM_017  

Protein Summary

• Protein general information: P31415  
  • Name: Calsequestrin 1 (Calmitine) (Calsequestrin, skeletal muscle isoform)
  • Length: 396  
  • Mass: 45160
  • Tissue specificity: Expressed in myoblasts (at protein level). {ECO
• Sequence:

  MSATDRMGPRAVPGLRLALLLLLVLGTPKSGVQGQEGLDFPEYDGVDRVINVNAKNYKNVFKKYEVLALLYHEPP
  EDDKASQRQFEMEELILELAAQVLEDKGVGFGLVDSEKDAAVAKKLGLTEVDSMYVFKGDEVIEYDGEFSADTIV
  EFLLDVLEDPVELIEGERELQAFENIEDEIKLIGYFKSKDSEHYKAFEDAAEEFHPYIPFFATFDSKVAKKLTLK
  LNEIDFYEAFMEEPVTIPDKPNSEEEIVNFVEEHRRSTLRKLKPESMYETWEDDMDGIHIVAFAEEADPDGFEFL
  ETLKAVAQDNTENPDLSIIWIDPDDFPLLVPYWEKTFDIDLSAPQIGVVNVTDADSVWMEMDDEEDLPSAEELED
  WLEDVLEGEINTEDDDDDDDD

• Structural information:
  • Interpro: IPR001393  IPR041860  IPR018233  IPR041858  IPR041859   IPR036249  
  • Prosite: PS00863 PS00864
  • CDD: cd03074 cd03066 cd03065
  • PDB: 3UOM 5CRD 5CRE 5CRG 5CRH
  • PDBsum: 3UOM 5CRD 5CRE 5CRG 5CRH
  • STRING: ENSP00000357057
• Other Databases: GeneCards:  CASQ1  Malacards:  CASQ1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0014809	regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion	IBA	biological process
GO:0030018	Z disc	IBA	cellular component
GO:0051279	regulation of release of sequestered calcium ion into cytosol	IBA	biological process
GO:0005509	calcium ion binding	IBA	molecular function
GO:0033018	sarcoplasmic reticulum lumen	IBA	cellular component
GO:0005509	calcium ion binding	IDA	molecular function
GO:0051258	protein polymerization	IDA	biological process
GO:0005509	calcium ion binding	IDA	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0042802	identical protein binding	IDA	molecular function
GO:0042802	identical protein binding	IDA	molecular function
GO:0033018	sarcoplasmic reticulum lumen	ISS	cellular component
GO:0016529	sarcoplasmic reticulum	ISS	cellular component
GO:1901341	positive regulation of store-operated calcium channel activity	IMP	biological process
GO:1901341	positive regulation of store-operated calcium channel activity	IMP	biological process
GO:0005759	mitochondrial matrix	ISS	cellular component
GO:0045214	sarcomere organization	ISS	biological process
GO:0014809	regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion	ISS	biological process
GO:2001256	regulation of store-operated calcium entry	IMP	biological process
GO:0051281	positive regulation of release of sequestered calcium ion into cytosol	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005783	endoplasmic reticulum	NAS	cellular component
GO:0005790	smooth endoplasmic reticulum	TAS	cellular component
GO:0033017	sarcoplasmic reticulum membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:1903779	regulation of cardiac conduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0045214	sarcomere organization	IEA	biological process
GO:0014809	regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion	IEA	biological process
GO:0007029	endoplasmic reticulum organization	IEA	biological process
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0030016	myofibril	IEA	cellular component
GO:0014870	response to muscle inactivity	IEA	biological process
GO:0007519	skeletal muscle tissue development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0033018	sarcoplasmic reticulum lumen	IEA	cellular component
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0010880	regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IEA	biological process
GO:0009408	response to heat	IEA	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0051282	regulation of sequestering of calcium ion	IEA	biological process
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0031674	I band	IEA	cellular component
GO:0030315	T-tubule	IEA	cellular component
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0014894	response to denervation involved in regulation of muscle adaptation	IEA	biological process
GO:0014804	terminal cisterna lumen	IEA	cellular component
GO:0014802	terminal cisterna	IEA	cellular component
GO:0010033	response to organic substance	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0033018	sarcoplasmic reticulum lumen	IEA	cellular component
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0033017	sarcoplasmic reticulum membrane	IEA	cellular component
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04020	Calcium signaling pathway

Diseases

Associated diseases	References
Vacuolar myopathy with CASQ1 aggregates	KEGG:H02320
Vacuolar myopathy with CASQ1 aggregates	KEGG:H02320
type 2 diabetes mellitus	PMID:18269685
type 2 diabetes mellitus	PMID:15561963
type 2 diabetes mellitus	PMID:15561962
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq