Annotated protein:Profilin-1 (Profilin I). Gene symbol: PFN1. Taxonomy: Mus musculus (Mouse). Uniprot ID: P62962
antibody wiki:
SynGO gene info:SynGO data @ PFN1
Ontology domain:Biological Process
SynGO term:synapse maturation (GO:0060074)
Synapse type(s):hippocampus, glutamatergic
Annotated paper:Michaelsen-Preusse K, et al. "Neuronal profilins in health and disease: Relevance for spine plasticity and Fragile X syndrome" Proc Natl Acad Sci U S A. 2016 Mar 22;113(12):3365-70 PMID:26951674
Figure(s):Fig1, Fig2D &E
Annotation description:Fig 1A & B showthat PFN1 is downregulated in hippocampus when mice mature. FiG1C & D show that, when profilin 1 is knocked down in culture at DIV14, less spines are formed and that especially the more mature mushroom type spines are lost. This is not observed when profilin 1 is knocked down at DIV31 (Fig1C & E) suggesting that profilin 1 is no longer needed in more mature cells/networks. The reduction in spines is verified in organotypic hippocampal slices, knocking down Profilin 1 at DIV11 (Fig F-I). These data are mirrored in a reduction of mEPSC frequency, that could be explained by a reduction in functional synapses upon profilin 1 knock down (Fig 2D and E). However, no rescue experiments are performed to show that these effects are really profilin 1 specific.

26/10/2017 Pim
- This paper compares the function of PFN1 and PFN2 at synapses.
- PFN2a but not PFN1 influences spine motility, synapse function, and spine plasticity
- Both PFN2a (reduces actin polymerization) and PFN1 (promotes actin polymerization) regulate actin dynamics in spines
- Authors propose that there is a developmental difference between PFN1 and PFN2 since PFN1 is predominanty expressed at P0 and then is downregulated.
- PFN1 but not PFN2 is able to rescue the spine morphology phenotype in FXS mouse model (characterized by immature spines).
In conclusion: PFN1 seems to affect spine morphology in the developing CNS, whereas PFN2a affects spine morphology and synaptic transmission in the mature CNS. Both do this via modulation of the actin cytoskeleton (Fig.3)
Evidence tracking, Biological System:Cultured neurons
Evidence tracking, Protein Targeting:RNAi / shRNA
Evidence tracking, Experiment Assay:Confocal
Whole-cell patch clamp
Annotator(s):Jan van Weering (ORCID:0000-0001-5259-4945)
Matthijs Verhage (ORCID:0000-0002-2514-0216)
Lab:Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, 1081 HV Amsterdam, The Netherlands
SynGO annotation ID:1663
Dataset release (version):20231201
View annotation as GO-CAM model:Gene Ontology