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Gene : CAPNS1 Homo sapiens

Name  ? calpain small subunit 1 Cytological Location  19q13.12
Brief Description  calpain small subunit 1
Description  This gene is a member of the calpain small subunit family. Calpains are calcium-dependent cysteine proteinases that are widely distributed in mammalian cells. Calpains operate as heterodimers, comprising a specific large catalytic subunit (calpain 1 subunit in Calpain I, and calpain 2 subunit in Calpain II), and a common small regulatory subunit encoded by this gene. This encoded protein is essential for the stability and function of both calpain heterodimers, whose proteolytic activities influence various cellular functions including apoptosis, proliferation, migration, adhesion, and autophagy. Calpains have been implicated in neurodegenerative processes, such as myotonic dystrophy. A pseudogene of this gene has been defined on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
  • synonyms:
  • CDPS,
  • NM_001003962,
  • uc002odj.4,
  • X04106,
  • CDPS,
  • CAPN4,
  • CANPS,
  • CANPS,
  • CALPAIN4,
  • HGNC:1481,
  • OTTHUMG00000160811,
  • CAPN4,
  • 30K,
  • CANP,
  • CANP,
  • CSS1,
  • CAPNS1
  • identifiers:
  • 826,
  • ENSG00000126247,
  • CAPNS1

Genome feature

Region: gene ? Length: 10288  
Location: 19:36140066-36150353 Cyto location: 19q13.12


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Proteins

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SNPs

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Disease

0 Diseases

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

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Other

952 SN Ps

5 Cross References

15 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results