• Gene id: 345456

Gene Summary

• Gene Symbol: PFN3   Gene   UCSC   Ensembl
• Gene name: profilin 3
• Alternate names: profilin-3, profilin III,
• Gene location: 5q35.3 (177400660: 177400108)     Exons: 1     NC_000005.10
• Gene summary(Entrez): The product of this gene belongs to the profilin family of proteins. This protein binds to actin and affects the structure of the cytoskeleton. It also may be involved in spermatogenesis. It is a single exon gene. [provided by RefSeq, Jul 2008]
• OMIM: 614835

Protein Summary

• Protein general information: P60673  
  • Name: Profilin 3 (Profilin III)
  • Length: 137  
  • Mass: 14596
  • Tissue specificity: Testis specific.
• Sequence:

  MGDWKVYISAVLRDQRIDDVAIVGHADNSCVWASRPGGLLAAISPQEVGVLTGPDRHTFLQAGLSVGGRRCCVIR
  DHLLAEGDGVLDARTKGLDARAVCVGRAPRALLVLMGRRGVHGGILNKTVHELIRGLRMQGA

• Structural information:
  • Interpro: IPR005455  IPR029893  IPR036140  IPR005454  
  • CDD: cd00148
  • STRING: ENSP00000351379
• Other Databases: GeneCards:  PFN3  Malacards:  PFN3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032233	positive regulation of actin filament bundle assembly	IBA	biological process
GO:0003779	actin binding	IBA	molecular function
GO:0030833	regulation of actin filament polymerization	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0030036	actin cytoskeleton organization	IEA	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0008289	lipid binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05131	Shigellosis
hsa04810	Regulation of actin cytoskeleton
hsa05132	Salmonella infection
hsa04015	Rap1 signaling pathway

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq