Bos taurus Gene: BT.21975
Summary
InnateDB Gene IDBG-629772.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BT.21975
Gene Name perforin-1 precursor
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000001008
Encoded Proteins
perforin-1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000180644:
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 28:26939280-26941721
Strand Reverse strand
Band
Transcripts
ENSBTAT00000001336 ENSBTAP00000001336
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.
Predicted by orthology
Total 7 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0022829 wide pore channel activity
Biological Process
GO:0002357 defense response to tumor cell
GO:0002418 immune response to tumor cell
GO:0019835 cytolysis
GO:0051260 protein homooligomerization
GO:0051607 defense response to virus
GO:0055085 transmembrane transport
Cellular Component
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016023 cytoplasmic membrane-bounded vesicle
GO:0044194 cytolytic granule
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
KEGG
Type I diabetes mellitus pathway
Natural killer cell mediated cytotoxicity pathway
Allograft rejection pathway
Autoimmune thyroid disease pathway
Graft-versus-host disease pathway
Viral myocarditis pathway
Type I diabetes mellitus pathway
Natural killer cell mediated cytotoxicity pathway
Allograft rejection pathway
Graft-versus-host disease pathway
Autoimmune thyroid disease pathway
Viral myocarditis pathway
INOH
PID NCI
TCR signaling in naïve CD8+ T cells
Caspase Cascade in Apoptosis
Downstream signaling in naïve CD8+ T cells
IL12 signaling mediated by STAT4
IL2 signaling events mediated by STAT5
Cross-References
SwissProt
TrEMBL F1MJT4 Q69GU5 Q863Z7
UniProt Splice Variant
Entrez Gene 369025
UniGene Bt.21975
RefSeq NM_001143735 XM_005226334
HUGO HGNC:9360
OMIM
CCDS
HPRD
IMGT
EMBL AY266136 AY313172 DAAA02061851
GenPept AAP23215 AAQ82904
RNA Seq Atlas 369025