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Gene : CASP1 Homo sapiens

Name  ? caspase 1 Cytological Location  11q22.3
Brief Description  caspase 1
Description  This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce 2 subunits, large and small, that dimerize to form the active enzyme. This gene was identified by its ability to proteolytically cleave and activate the inactive precursor of interleukin-1, a cytokine involved in the processes such as inflammation, septic shock, and wound healing. This gene has been shown to induce cell apoptosis and may function in various developmental stages. Studies of a similar gene in mouse suggest a role in the pathogenesis of Huntington disease. Alternative splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012]
  • synonyms:
  • OTTHUMG00000048072,
  • caspase-1,
  • U13697,
  • IL1BC,
  • ICE,
  • caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase),
  • CASP1,
  • IL1BC,
  • interleukin 1, beta, convertase,
  • caspase 1, apoptosis-related cysteine peptidase,
  • ICE,
  • caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase),
  • HGNC:1499,
  • NM_033292,
  • P45,
  • uc021qpp.3
  • identifiers:
  • 834,
  • ENSG00000137752,
  • CASP1

Genome feature

Region: gene ? Length: 10149  
Location: 11:105025443-105035591 reverse strand Cyto location: 11q22.3


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Proteins

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SNPs

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Disease

0 Diseases

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

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

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Other

984 SN Ps

5 Cross References

17 Data Sets

19 Homologues

0 Located Features

97 Rna Seq Results