Profilin 1 ist ein Gen, das durch das Symbol PFN1 kodiert wird. Im Allgemeinen auch bezeichnet als: Profilin-1; Epididymis tissue protein Li 184a; Profilin I; PFN1. Profilin 1 hat eine Masse von 15.05kDa, eine Aminosäurelänge von 140, und ist an Amyotrophic lateral sclerosis 18 beteiligt.
Wir bieten 3 antikörper gegen Profilin 1, aufgewachsen in Kaninchen, welche geeignet sind für WB mit Proben abgeleitet von Human, Maus, Ratte und Affe.
Gen- und Proteininformationen
UniProt Zusammenfassung
Binds to actin and affects the structure of the cytoskeleton. At high concentrations, profilin prevents the polymerization of actin, whereas it enhances it at low concentrations. By binding to PIP2, it inhibits the formation of IP3 and DG. Inhibits androgen receptor (AR) and HTT aggregation and binding of G-actin is essential for its inhibition of AR.
Entrez Zusammenfassung
This gene encodes a member of the profilin family of small actin-binding proteins. The encoded protein plays an important role in actin dynamics by regulating actin polymerization in response to extracellular signals. Deletion of this gene is associated with Miller-Dieker syndrome, and the encoded protein may also play a role in Huntington disease. Multiple pseudogenes of this gene are located on chromosome 1.
Gewebespezifität
Expressed in epididymis (at protein level).
Rolle bei Krankheiten
Amyotrophic lateral sclerosis 18: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.
Sequenzähnlichkeiten
Belongs to the profilin family.
Posttranslationale Modifikation
Phosphorylation at Ser-138 reduces its affinity for G-actin and blocks its interaction with HTT, reducing its ability to inhibit androgen receptor (AR) and HTT aggregation.
Zellort
Cytoplasm > Cytoskeleton.
