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Protein Coding Gene : Capns1 calpain, small subunit 1

Primary Identifier  MGI:88266 Organism  mouse, laboratory
Chromosome  7 NCBI Gene Number  12336
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Enables calcium-dependent cysteine-type endopeptidase activity. Predicted to be involved in protein catabolic process. Predicted to be located in cytosol and membrane. Predicted to be part of calpain complex. Is expressed in medulla oblongata basal plate mantle layer; nucleus pulposus; pons mantle layer; and ventral grey horn. Orthologous to human CAPNS1 (calpain small subunit 1).
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality around E11.5. Mutant embryos exhibit cardiac developmental defects, reduced yolk sac vasculature, hemorrhaging in the area between the embryo and amnion, and accumulation of nucleated erythroid cells in the heart chambers, blood vessels, and developing liver. [provided by MGI curators]
  • synonyms:
  • MGD-MRK-1757,
  • MGD-MRK-1753,
  • Capns1,
  • Capn4,
  • calpain, small subunit 1,
  • Capa4,
  • MGI:1098835,
  • DNA segment, Chr 7, ERATO Doi 146, expressed,
  • calpain 4,
  • Capa-4,
  • D7Ertd146e,
  • calpain 4, small subunit

Features --> Cross References

Genome

Sequence Feature Displayer

JG Browse Displayer

0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

0 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

7 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

0 Driver For