InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: CASQ1

Summary

InnateDB Gene

IDBG-104003.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CASQ1

Gene Name

calsequestrin 1 (fast-twitch, skeletal muscle)

Synonyms

CASQ; PDIB1

Species

Homo sapiens

Ensembl Gene

ENSG00000143318

Encoded Proteins

IDBP-104007

calsequestrin 1 (fast-twitch, skeletal muscle)

IDBP-476120

calsequestrin 1 (fast-twitch, skeletal muscle)

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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 1:160190556-160201886

Strand

Forward strand

Band

q23.2

Transcripts

ENST00000368078	ENSP00000357057
ENST00000481081
ENST00000467691	ENSP00000418051

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: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:0034220	ion transmembrane transport
GO:0051282	regulation of sequestering of calcium ion
GO:0055085	transmembrane transport

Cellular Component

GO:0005737	cytoplasm
GO:0005739	mitochondrion
GO:0005759	mitochondrial matrix
GO:0005783	endoplasmic reticulum
GO:0005790	smooth endoplasmic reticulum
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:0033017	sarcoplasmic reticulum membrane
GO:0033018	sarcoplasmic reticulum lumen
GO:0042383	sarcolemma
GO:0043231	intracellular membrane-bounded organelle

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000007122

View Gene Order

ENSBTAG00000020223

Not yet available

Pathways

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

P31415

TrEMBL

C9JAC8

UniProt Splice Variant

Entrez Gene

844

UniGene

Hs.632476

RefSeq

NM_001231

HUGO

HGNC:1512

OMIM

114250

CCDS

CCDS1198

HPRD

IMGT

EMBL

AK313250 AL121987 BC022289 CH471121 S73775

GenPept

AAB32063 AAH22289 BAG36060 CAI15276 EAW52736

RNA Seq Atlas

844