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Gene : CTSL Homo sapiens

Name  ? cathepsin L Cytological Location  9q21.33
Brief Description  cathepsin L
Description  The protein encoded by this gene is a lysosomal cysteine proteinase that plays a major role in intracellular protein catabolism. Its substrates include collagen and elastin, as well as alpha-1 protease inhibitor, a major controlling element of neutrophil elastase activity. The encoded protein has been implicated in several pathologic processes, including myofibril necrosis in myopathies and in myocardial ischemia, and in the renal tubular response to proteinuria. This protein, which is a member of the peptidase C1 family, is a dimer composed of disulfide-linked heavy and light chains, both produced from a single protein precursor. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012]
  • synonyms:
  • X12451,
  • CATL,
  • CTSL1,
  • FLJ31037,
  • NM_001912,
  • MEP,
  • cathepsin L1,
  • HGNC:2537,
  • CTSL1,
  • CTSL,
  • OTTHUMG00000020149
  • identifiers:
  • 1514,
  • ENSG00000135047,
  • CTSL

Genome feature

Region: gene ? Length: 6033  
Location: 9:87725437-87731469 Cyto location: 9q21.33


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

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SNPs

Gene Report --> GWAS hit

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]

Homology

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Interactions

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Expression

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

Gene Ontology

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Other

700 SN Ps

5 Cross References

16 Data Sets

53 Homologues

0 Located Features

97 Rna Seq Results