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Gene : CASQ1 Homo sapiens

Name  ? calsequestrin 1 Cytological Location  1q23.2
Brief Description  calsequestrin 1
Description  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]
  • synonyms:
  • CASQ,
  • uc010pja.3,
  • CASQ1,
  • calsequestrin 1 (fast-twitch, skeletal muscle),
  • CASQ,
  • NM_001231,
  • calmitine,
  • OTTHUMG00000031607,
  • calsequestrin 1, fast-twitch, skeletal muscle,
  • PDIB1,
  • HGNC:1512,
  • S73775,
  • PDIB1,
  • VMCQA
  • identifiers:
  • 844,
  • ENSG00000143318,
  • CASQ1

Genome feature

Region: gene ? Length: 11312  
Location: 1:160190575-160201886 Cyto location: 1q23.2


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> GO terms.

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

775 SN Ps

5 Cross References

18 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results