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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
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:61133612-61140459 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 32.18 cM
  • Mapping Data
    17 experiments
Strain
Comparison
more
  • SNPs within 2kb
    62 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    3
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97551
 protein coding gene Chr10:61133530-61140463 (+)
129S1/SvImJ MGP_129S1SvImJ_G0017277
 protein coding gene Chr10:60616648-60626234 (+)
A/J MGP_AJ_G0017255
 protein coding gene Chr10:58812260-58819684 (+)
AKR/J MGP_AKRJ_G0017215
 protein coding gene Chr10:60351965-60360355 (+)
BALB/cJ MGP_BALBcJ_G0017215
 protein coding gene Chr10:58888788-58895215 (+)
C3H/HeJ MGP_C3HHeJ_G0017038
 protein coding gene Chr10:60251939-60259205 (+)
C57BL/6NJ MGP_C57BL6NJ_G0017673
 protein coding gene Chr10:62786830-62794028 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0015364
 protein coding gene Chr10:55791933-55798719 (+)
CAST/EiJ MGP_CASTEiJ_G0016609
 protein coding gene Chr10:60237214-60245437 (+)
CBA/J MGP_CBAJ_G0017010
 protein coding gene Chr10:65128036-65141787 (+)
DBA/2J MGP_DBA2J_G0017115
 protein coding gene Chr10:58087265-58093563 (+)
FVB/NJ MGP_FVBNJ_G0017109
 protein coding gene Chr10:57341163-57347590 (+)
LP/J MGP_LPJ_G0017190
 protein coding gene Chr10:61031294-61037620 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0017137
 protein coding gene Chr10:67463653-67470004 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0017711
 protein coding gene Chr10:60161346-60171205 (+)
PWK/PhJ MGP_PWKPhJ_G0016392
 protein coding gene Chr10:57917839-57924354 (+)
SPRET/EiJ MGP_SPRETEiJ_G0016177
 protein coding gene Chr10:59644886-59646400 (-)
WSB/EiJ MGP_WSBEiJ_G0016673
 protein coding gene Chr10:60089367-60095545 (+)



Homology
more
  • Human Ortholog
    PRF1, perforin 1
  • Vertebrate Orthologs
    10
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PRF1, perforin 1
  • Synonyms
    HPLH2, P1, PFP
  • Links
    NCBI Gene ID: 5551
    neXtProt AC: NX_P14222
    UniProt: P14222

  • Chr Location
    10q22.1; chr10:70597348-70602759 (-)  GRCh38
Human Diseases
more
  • Diseases
    3 with Prf1 mouse models; 7 with human PRF1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 1 model
      
IDs
 View 2 models
      
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    87 phenotypes from 6 alleles in 14 genetic backgrounds
    38 phenotypes from multigenic genotypes
    447 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.
Homozygous null mice exhibit increased susceptibility to viral infection and defective cytotoxic T cell cytolysis and NK cell cytolysis.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    42
  • GO References
    17
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    714
  • Tissues
    4
  • cDNA Data
    15
  • Literature Summary
    10
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000037202 Ensembl Gene Model | MGI Sequence Detail 6848 C57BL/6J ±  kb
    transcript ENSMUST00000219375 Ensembl | MGI Sequence Detail 2474 Not Applicable  
    polypeptide ENSMUSP00000151354 Ensembl | MGI Sequence Detail 554 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 20
      Genomic 4
      cDNA 15
      Primer pair 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-13251, MGD-MRK-13605
    References
    more
    • Summaries
      All 548
      Developmental Gene Expression 10
      Diseases 4
      Gene Ontology 17
      Phenotypes 447
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:346307 Albeituni S, et al., Cellular and transcriptional impacts of Janus kinase and/or IFN-gamma inhibition in a mouse model of primary hemophagocytic lymphohistiocytosis. Front Immunol. 2023;14:1137037
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory