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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 Ensembl 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

HCOP human homology predictions: PRF1
Gene Tree: Prf1

Human
homologs
PRF1, perforin 1 (pore forming protein)
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 5551
neXtProt AC: NX_P14222

Human Synonyms: FLH2, HPLH2, P1, PFN1, PFP

Human Chr (Location): 10q22; chr10:70597348-70602775 (-)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human PRF1

Mutations,
alleles, and
phenotypes
All mutations/alleles(8) : Chemically induced (ENU)(1) 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 in Mice Using Prf1 (3)    Mutations 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: (4 records)
cDNA source data(14)
Other mouse links: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(18) Genomic(4) cDNA(14)
Microarray probesets(5)
Other database
links
Ensembl Gene Model ENSMUSG00000037202 (Evidence)
Entrez Gene 18646 (Evidence)
UniGene 240313
DFCI TC1590734, TC1596309
DoTS DT.101381584, DT.91339741
PDB 3NSJ
Consensus CDS Project CCDS23875.1
International Mouse Phenotyping Consortium Status Prf1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000037202 Ensembl Gene Model | MGI Sequence Detail 6428 C57BL/6J ±  kb
transcript ENSMUST00000035419 Ensembl | MGI Sequence Detail 2054 Not Applicable 
polypeptide ENSMUSP00000041483 Ensembl | 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
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:221376 Sepulveda FE, et al., A novel immunoregulatory role for NK-cell cytotoxicity in protection from HLH-like immunopathology in mice. Blood. 2015 Feb 26;125(9):1427-34
All references(390)
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
06/23/2015
MGI 5.22
The Jackson Laboratory