About   Help   FAQ
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
  • Alliance
  • Transcription Start Sites
    21 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:70542676-70545470 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 11, 43.21 cM, cytoband A-D
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    28 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97549
protein coding gene Chr11:70542670-70547625 (-)
129S1/SvImJ MGP_129S1SvImJ_G0018609
protein coding gene Chr11:71195320-71198104 (-)
A/J MGP_AJ_G0018577
protein coding gene Chr11:68506430-68509218 (-)
AKR/J MGP_AKRJ_G0018546
protein coding gene Chr11:70563680-70566470 (-)
BALB/cJ MGP_BALBcJ_G0018549
protein coding gene Chr11:68815590-68818379 (-)
C3H/HeJ MGP_C3HHeJ_G0018362
protein coding gene Chr11:70582346-70585137 (-)
C57BL/6NJ MGP_C57BL6NJ_G0019000
protein coding gene Chr11:73352157-73356181 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0016645
protein coding gene Chr11:65413941-65416693 (-)
CAST/EiJ MGP_CASTEiJ_G0017917
protein coding gene Chr11:70852531-70856504 (-)
CBA/J MGP_CBAJ_G0018334
protein coding gene Chr11:76655818-76658606 (-)
DBA/2J MGP_DBA2J_G0018444
protein coding gene Chr11:68079667-68082438 (-)
FVB/NJ MGP_FVBNJ_G0018434
protein coding gene Chr11:67720405-67723200 (-)
LP/J MGP_LPJ_G0018514
protein coding gene Chr11:71775677-71778468 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0018457
protein coding gene Chr11:77210934-77213725 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0019042
protein coding gene Chr11:70820904-70823695 (-)
PWK/PhJ MGP_PWKPhJ_G0017691
protein coding gene Chr11:68726809-68729581 (-)
SPRET/EiJ MGP_SPRETEiJ_G0017481
protein coding gene Chr11:70635148-70637917 (-)
WSB/EiJ MGP_WSBEiJ_G0017971
protein coding gene Chr11:70480319-70483108 (-)



Homology
more
  • Human Ortholog
    PFN1, profilin 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PFN1, profilin 1
  • Synonyms
    ALS18
  • Links
    NCBI Gene ID: 5216
    neXtProt AC: NX_P07737
    UniProt: P07737

  • Chr Location
    17p13.2; chr17:4945652-4949061 (-)  GRCh38

Human Diseases
more
  • Diseases
    1 with human PFN1 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    39 phenotypes from 5 alleles in 8 genetic backgrounds
    9 phenotypes from multigenic genotypes
    46 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 knockout mice die at early embryonic stages (before E14.5). Some heterozygous mice die either in early embryonic stages or in the perinatal period; animals that survive reach adulthood and are phenotypically normal. Heterozygous MEFs show a high rate of mitotic defects, such as failures in mitotic rounding and cytokinesis.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
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
membraneless 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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000018293 Ensembl Gene Model | MGI Sequence Detail 2795 C57BL/6J ±  kb
    transcript ENSMUST00000018437 Ensembl | MGI Sequence Detail 861 Not Applicable  
    polypeptide ENSMUSP00000018437 Ensembl | MGI Sequence Detail 140 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 17
      Genomic 2
      cDNA 12
      Primer pair 1
      Other 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-13248, MGD-MRK-13249
    References
    more
    • Summaries
      All 104
      Developmental Gene Expression 10
      Gene Ontology 13
      Phenotypes 46
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:351853 Funes S, et al., Expression of ALS-PFN1 impairs vesicular degradation in iPSC-derived microglia. Nat Commun. 2024 Mar 20;15(1):2497

    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
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.
    last database update
    11/05/2024
    MGI 6.24
    The Jackson Laboratory