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Prf1 Gene Detail
Summary
  • Symbol
    Prf1
  • Name
    perforin 1 (pore forming protein)
  • Synonyms
    perforin, Pfn, Pfp, Prf-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:97551
    NCBI Gene: 18646
  • Gene Overview
    MyGene.info: PRF1
Location & Maps
more
  • Sequence Map
    Chr10:61297836-61304263 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      6428 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 32.18 cM
  • Mapping Data
    17 experiments
Homology
more
  • Human Ortholog
    PRF1, perforin 1
  • Vertebrate Orthologs
    20
  • Human Ortholog
    PRF1, perforin 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    FLH2, HPLH2, P1, PFN1, PFP
  • Links
    NCBI Gene ID: 5551
    neXtProt AC: NX_P14222

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

  • HomoloGene
    Vertebrate Homology Class 3698
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;3 zebrafish;9 frog, western clawed
  • HCOP
    human homology predictions: PRF1
  • Gene Tree
Human Diseases
more
  • Diseases
    3 with Prf1 mouse models; 3 with human PRF1 associations

Human Disease Mouse Models
       Hemophagocytic Lymphohistiocytosis, Familial, 2; FHL2   OMIM: 603553 View 1 model
       Diabetes Mellitus, Insulin-Dependent; IDDM   OMIM: 222100 View 2 models
Multiple Sclerosis, Susceptibility To; MS   OMIM: 126200 View 1 model
       Aplastic Anemia   OMIM: 609135
Lymphoma, Non-Hodgkin, Familial   OMIM: 605027
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    8 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    81 phenotypes from 5 alleles in 13 genetic backgrounds
    37 phenotypes from multigenic genotypes
    344 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    11
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    1
  • Radiation induced
    1
  • Targeted
    8
  • Genomic Mutations
    2 involving Prf1
  • Incidental Mutations
Homozygous null mice exhibit increased susceptibility to viral infection and defective cytotoxic T cell cytolysis and NK cell cytolysis.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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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 sequence
Polymorphisms
less
  • SNPs within 2kb
    61 from dbSNP Build 142
  • RFLP
Protein
Information
less
  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000003466 perforin-1
  • PDB
  • InterPro Domains
    IPR000008 C2 domain
    IPR020863 Membrane attack complex component/perforin domain, conserved site
    IPR020864 Membrane attack complex component/perforin (MACPF) domain
Molecular
Reagents
less
  • All nucleic 18
    Genomic 4
    cDNA 14

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-13251, MGD-MRK-13605
References
more
  • Summaries
    All 407
    Developmental Gene Expression 4
    Diseases 8
    Gene Ontology 8
    Phenotypes 344
  • 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:232799 Sepulveda FE, et al., Polygenic mutations in the cytotoxicity pathway increase susceptibility to develop HLH immunopathology in mice. Blood. 2016 Apr 28;127(17):2113-21

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
09/20/2016
MGI 6.05
The Jackson Laboratory