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Gene Ontology Classifications
Symbol
Name
ID
Prf1
perforin 1 (pore forming protein)
MGI:97551

Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Prf1. (This text reflects annotations as of Thursday, July 24, 2014.)
Summary from NCBI RefSeq


[Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has structural and functional similarities to complement component 9 (C9). Like C9, this protein creates transmembrane tubules and is capable of lysing non-specifically a variety of target cells. This protein is one of the main cytolytic proteins of cytolytic granules, and it is known to be a key effector molecule for T-cell- and natural killer-cell-mediated cytolysis. Defects in this gene cause familial hemophagocytic lymphohistiocytosis type 2 (HPLH2), a rare and lethal autosomal recessive disorder of early childhood. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text for additional MGI annotations
References
  1. Bots M et al. (2005) SPI-CI and SPI-6 cooperate in the protection from effector cell-mediated cytotoxicity. Blood, 105:1153-61. (PubMed:15454490)
  2. Crider-Pirkle S et al. (2002) Cubilin, a binding partner for galectin-3 in the murine utero-placental complex. J Biol Chem, 277:15904-12. (PubMed:11856751)
  3. Hoover RG et al. (2009) Impaired NK cytolytic activity and enhanced tumor growth in NK lytic-associated molecule-deficient mice. J Immunol, 183:6913-21. (PubMed:19915045)
  4. Kagi D et al. (1994) Cytotoxicity mediated by T cells and natural killer cells is greatly impaired in perforin-deficient mice [see comments] Nature, 369:31-7. (PubMed:8164737)
  5. Law RH et al. (2010) The structural basis for membrane binding and pore formation by lymphocyte perforin. Nature, 468:447-51. (PubMed:21037563)



Go Annotations in Tabular Form (Text View) (GO Graph)

 
 


Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IMP Inferred from mutant phenotype
  IPI Inferred from physical interaction
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/23/2014
MGI 5.19
The Jackson Laboratory