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Pfn1 Gene Detail
Summary
  • Symbol
    Pfn1
  • Name
    profilin 1
  • Synonyms
    actin binding protein, Pfn
  • Feature Type
    protein coding gene
  • IDs
    MGI:97549
    NCBI Gene: 18643
  • Gene Overview
    MyGene.info: PFN1
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr11:70651850-70654644 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      2795 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 43.21 cM, cytoband A-D
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    PFN1, profilin 1
  • Vertebrate Orthologs
    6
  • Human Ortholog
    PFN1, profilin 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ALS18
  • Links
    NCBI Gene ID: 5216
    neXtProt AC: NX_P07737
    UniProt: P07737

  • Chr Location
    17p13.2; chr17:4945650-4949088 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human PFN1 associations

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

  • Mutations/Alleles
    2 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    32 phenotypes from 5 alleles in 8 genetic backgrounds
    28 phenotypes from multigenic genotypes
    34 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 mice die at early embryonic stages. Some heterozygous mice die either in early embryonic stages or in the perinatal period; animals that survive reach adulthood and are phenotypically normal.
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 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
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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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000006068 VEGA Gene Model | MGI Sequence Detail 2795 C57BL/6J ±  kb
    transcript OTTMUST00000013681 VEGA | MGI Sequence Detail 861 Not Applicable  
    polypeptide OTTMUSP00000006342 VEGA | MGI Sequence Detail 140 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      28 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 15
      Genomic 2
      cDNA 11
      Other 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-13248, MGD-MRK-13249
    References
    more
    • Summaries
      All 84
      Developmental Gene Expression 5
      Diseases 1
      Gene Ontology 12
      Phenotypes 34
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:259541 Ling KK, et al., Antisense-mediated reduction of EphA4 in the adult CNS does not improve the function of mice with amyotrophic lateral sclerosis. Neurobiol Dis. 2018 Mar 6;114(None):174-183

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    Funding Information
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    last database update
    05/15/2018
    MGI 6.12
    The Jackson Laboratory