Entry - *612812 - PROFILIN 3; PFN3 - OMIM
 
* 612812

PROFILIN 3; PFN3


HGNC Approved Gene Symbol: PFN3

Cytogenetic location: 5q35.3     Genomic coordinates (GRCh38): 5:177,400,109-177,400,661 (from NCBI)


TEXT

Description

Members of the profilin family of actin-binding proteins (see PFN1; 176610), including PFN3, are key regulators of actin dynamics in living cells (Braun et al., 2002).


Cloning and Expression

By database analysis using the rat Pfn3 cDNA as query, Braun et al. (2002) identified human and mouse PFN3. The deduced 137-amino acid human protein shares 89% amino acid identity with the mouse protein. Northern blot analysis and RT-PCR of mouse tissues and testis detected Pfn3 expression in testis only. In situ hybridization of mouse testis detected Pfn3 expression specifically in spermatocytes in the last stages of spermatogenesis.


Gene Structure

Braun et al. (2002) determined that the PFN3 gene contains a single exon. It is in head-to-head orientation with the SLC34A1 gene (182309), which is on the opposite strand.


Mapping

By database analysis, Braun et al. (2002) mapped the PFN3 gene to chromosome 5q35.2.


REFERENCES

  1. Braun, A., Aszodi, A., Hellebrand, H., Berna, A., Fassler, R., Brandau, O. Genomic organization of profilin-III and evidence for a transcript expressed exclusively in testis. Gene 283: 219-225, 2002. [PubMed: 11867228, related citations] [Full Text]


Creation Date:
Dorothy S. Reilly : 5/26/2009
Edit History:
wwang : 05/26/2009

* 612812

PROFILIN 3; PFN3


HGNC Approved Gene Symbol: PFN3

Cytogenetic location: 5q35.3     Genomic coordinates (GRCh38): 5:177,400,109-177,400,661 (from NCBI)


TEXT

Description

Members of the profilin family of actin-binding proteins (see PFN1; 176610), including PFN3, are key regulators of actin dynamics in living cells (Braun et al., 2002).


Cloning and Expression

By database analysis using the rat Pfn3 cDNA as query, Braun et al. (2002) identified human and mouse PFN3. The deduced 137-amino acid human protein shares 89% amino acid identity with the mouse protein. Northern blot analysis and RT-PCR of mouse tissues and testis detected Pfn3 expression in testis only. In situ hybridization of mouse testis detected Pfn3 expression specifically in spermatocytes in the last stages of spermatogenesis.


Gene Structure

Braun et al. (2002) determined that the PFN3 gene contains a single exon. It is in head-to-head orientation with the SLC34A1 gene (182309), which is on the opposite strand.


Mapping

By database analysis, Braun et al. (2002) mapped the PFN3 gene to chromosome 5q35.2.


REFERENCES

  1. Braun, A., Aszodi, A., Hellebrand, H., Berna, A., Fassler, R., Brandau, O. Genomic organization of profilin-III and evidence for a transcript expressed exclusively in testis. Gene 283: 219-225, 2002. [PubMed: 11867228] [Full Text: https://doi.org/10.1016/s0378-1119(01)00855-1]


Creation Date:
Dorothy S. Reilly : 5/26/2009

Edit History:
wwang : 05/26/2009