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Prf1
Gene Detail
 Symbol
Name
ID
Prf1
perforin 1 (pore forming protein)
MGI:97551
Synonyms perforin, Pfn, Pfp, Prf-1
Feature Type protein coding gene
Genetic Map
Chromosome 10
32.18 cM
Detailed Genetic Map ± 1 cM


Mapping data(17)
Sequence Map
Chr10:61297836-61304263 bp, + strand
From NCBI annotation of GRCm38

  6428 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:3698  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 9 western clawed frog; 3 zebrafish

Gene Tree: Prf1

Human
homologs
Human Homolog PRF1, perforin 1 (pore forming protein)
NCBI Gene ID 5551
neXtProt AC  NX_P14222
Human Synonyms  FLH2, HPLH2, P1, PFN1, PFP
Human Chr (Location)  10q22; chr10:70597348-70602775 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human PRF1
Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Targeted(7)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous null mice exhibit increased susceptibility to viral infection and defective cytotoxic T cell cytolysis and NK cell cytolysis.
 
Human Diseases Modeled Using Mouse Prf1 (3)    Alleles Annotated to Human Diseases(2)   
Interactions
Prf1 interacts with 54 markers (Mir10a, Mir10b, Mir19a, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (25 annotations)
Process apoptotic process, circadian rhythm, ...
Component cytolytic granule, cytoplasmic membrane-bounded vesicle, ...
Function calcium ion binding, metal ion binding, ...
External Resources: FuncBase
Expression
Literature Summary: (2 records)
cDNA source data(14)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(18) Genomic(4) cDNA(14)
Microarray probesets(5)
Other database
links
Ensembl Gene ModelENSMUSG00000037202 (Evidence)
Entrez Gene18646 (Evidence)
UniGene240313
DFCITC1590734, TC1596309
DoTSDT.101381584, DT.91339741
PDB3NSJ
Consensus CDS ProjectCCDS23875.1
International Mouse Knockout Project StatusPrf1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 18646 NCBI Gene Model | MGI Sequence Detail 6428 C57BL/6J ±  kb
transcript NM_011073 RefSeq | MGI Sequence Detail 2054 Not Specified 
polypeptide P10820 UniProt | EBI | MGI Sequence Detail 554 Not Applicable 

For the selected sequences
All sequences(20) RefSeq(4) UniProt(2)
Polymorphisms RFLP(3) : SNPs within 2kb(70 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000008 C2 calcium-dependent membrane targeting
InterPro IPR020863 Membrane attack complex component/perforin domain, conserved site
InterPro IPR020864 Membrane attack complex component/perforin (MACPF) domain
Protein Ontology PR:000003466 perforin-1
Graphical View of Protein Domain Structure
References (Earliest) J:9295 Shinkai Y, et al., Homology of perforin to the ninth component of complement (C9). Nature. 1988 Aug 11;334(6182):525-7
(Latest) J:209821 Bouwer AL, et al., NK cells are required for dendritic cell-based immunotherapy at the time of tumor challenge. J Immunol. 2014 Mar 1;192(5):2514-21
All references(377)
Disease annotation references (5)
Other
accession IDs
MGD-MRK-13251, MGD-MRK-13605

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/26/2014
MGI 5.19
The Jackson Laboratory