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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
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
Homology
more
  • Human Ortholog
    PFN1, profilin 1
  • Vertebrate Orthologs
    6
  • Human Ortholog
    PFN1, profilin 1
    Orthology source: HomoloGene
  • Synonyms
    ALS18
  • Links
    NCBI Gene ID: 5216
    neXtProt AC: NX_P07737

  • Chr Location
    17p13.3; chr17:4945650-4949086 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human PFN1 associations

Human Disease Mouse Models
       Amyotrophic Lateral Sclerosis 18; ALS18   OMIM: 614808
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    36 phenotypes from 5 alleles in 9 genetic backgrounds
    8 phenotypes from multigenic genotypes
    31 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    18
  • Chemically induced (other)
    1
  • Gene trapped
    9
  • Targeted
    8
  • Genomic Mutations
    2 involving Pfn1
  • Incidental Mutations
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
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
Interactions
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Sequences &
Gene Models
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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
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  • SNPs within 2kb
    28 from dbSNP Build 142
  • RFLP
Protein
Information
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Molecular
Reagents
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  • All nucleic 15
    Genomic 2
    cDNA 11
    Other 2

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-13248, MGD-MRK-13249
References
more
  • Summaries
    All 60
    Developmental Gene Expression 4
    Gene Ontology 11
    Phenotypes 31
  • Earliest
    J:15669 Kwiatkowski DJ, et al., Human profilin. Molecular cloning, sequence comparison, and chromosomal analysis. J Biol Chem. 1988 Apr 25;263(12):5910-5
  • Latest
    J:225201 Bender M, et al., Megakaryocyte-specific Profilin1-deficiency alters microtubule stability and causes a Wiskott-Aldrich syndrome-like platelet defect. Nat Commun. 2014;5:4746

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
05/17/2016
MGI 6.03
The Jackson Laboratory