Casp1 Gene Detail

Summary

• Symbol
  Casp1
• Name
  caspase 1
• Synonyms
  Caspase-1, ICE, Il1bc, interleukin 1 beta-converting enzyme

• Feature Type
  protein coding gene
• IDs
  MGI:96544
  NCBI Gene: 12362
• Gene Overview
  MyGene.info: CASP1

Location & Maps

• Sequence Map
  Chr9:5298517-5307265 bp, + strand
• From Ensembl annotation of GRCm38
  

  Mouse Genome Browser
  
  

• Download
  Sequence
    8749 bp   ±  kb flank
  
  
• Genome Browsers
  VEGA | Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 9, 2.46 cM
• Mapping Data
  1 experiment

Homology

• Human Ortholog
  CASP1, caspase 1

• Vertebrate Orthologs
  13

• Human Ortholog
  CASP1, caspase 1
  Orthology source: HomoloGene, HGNC
• Synonyms
  ICE, IL1BC, P45
• Links
  HGNC:1499

  NCBI Gene ID: 834

  neXtProt AC: NX_P29466

  UniProt: P29466

  
  
• Chr Location
  11q22.3; chr11:105025508-105035591 (-)  GRCh38.p7

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• HomoloGene
  Vertebrate Homology Class 133272
  1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;4 zebrafish;1 frog, western clawed;1 macaque, rhesus
  
• HCOP
  human homology predictions: CASP1
• Protein SuperFamily
  caspase, interleukin-1 beta convertase type
• Gene Tree
  Casp1
  

Human Diseases

• Mutations/Alleles
  2 with disease annotations

• References
  2 with disease annotations

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  74 phenotypes from multigenic genotypes
  365 phenotype references
  

• All Mutations and Alleles
  10
• Targeted
  9
• Transgenic
  1
• Genomic Mutations
  1 involving Casp1
• Incidental Mutations
  Mutagenetix , APF
• Find Mice (IMSR)
  20 strains or lines available

Homozygous targeted mutants fail to produce mature IL1A and IL1B and are resistant to LPS-induced endotoxin shock and to FAS antibody-induced apoptosis.

Gene Ontology
(GO)
Classifications

• All GO Annotations
  71
• GO References
  23

• External Resources
  FuncBase

Expression

• Assay Results
  12
• Tissues
  10
• cDNA Data
  53
• Literature Summary
  9

Images

Tissue x Stage Matrix

• Other Mouse Links
  GEO
  Expression Atlas

Interactions

• Casp1 interacts with 25 markers (Mir26a-2, Mir32, Mir33, ...) View All

Sequences &
Gene Models

• All Sequences
  13
• RefSeq
  2
• UniProt
  1
• CCDS
  CCDS22798.1
• UniGene
  1051

• Ensembl
  ENSMUSG00000025888 (Evidence)
• NCBI Gene
  12362

Representative Sequences			Length	Strain/Species
genomic	ENSMUSG00000025888	Ensembl Gene Model | MGI Sequence Detail	8749	C57BL/6J
transcript	ENSMUST00000027015	Ensembl | MGI Sequence Detail	1497	Not Applicable
polypeptide	ENSMUSP00000027015	Ensembl | MGI Sequence Detail	402	Not Applicable

Polymorphisms

• SNPs within 2kb
  117 from dbSNP Build 142

• RFLP
  1

Protein
Information

• UniProt
  1 Sequence
• Protein Ontology
  PR:000002309 caspase-1
  (term hierarchy)
• EC
  3.4.22.36
• InterPro Domains
  IPR001315 CARD domain
  IPR029030 Caspase-like domain
  IPR011029 Death-like domain
  IPR015917 Peptidase C14A, caspase catalytic domain
  IPR002138 Peptidase C14, caspase non-catalytic subunit p10
  IPR001309 Peptidase C14, p20 domain
  IPR033139 Peptidase family C14A, cysteine active site
  IPR016129 Peptidase family C14A, His active site

Molecular
Reagents

• All nucleic 59

  Genomic 2

  cDNA 53

  Primer pair 3

  Other 1

  
  

  Microarray probesets 3

Other
Accession IDs

MGD-MRK-11368

References

• Summaries
  All 493

  Developmental Gene Expression 9

  Diseases 2

  Gene Ontology 23

  Phenotypes 365
• Earliest
  J:229737 Idell S, et al., Local abnormalities in coagulation and fibrinolytic pathways predispose to alveolar fibrin deposition in the adult respiratory distress syndrome. J Clin Invest. 1989 Aug;84(2):695-705
• Latest
  J:242007 Freeman L, et al., NLR members NLRC4 and NLRP3 mediate sterile inflammasome activation in microglia and astrocytes. J Exp Med. 2017 May 01;214(5):1351-1370