Guanylyl cyclase-activating protein 1

Definition:

Stimulates retinal guanylyl cyclase when free calcium ions concentration is low and inhibits guanylyl cyclase when free calcium ions concentration is elevated. This Ca(2+)-sensitive regulation of retinal guanylyl cyclase is a key event in recovery of the dark state of rod photoreceptors following light exposure (By similarity). May be involved in cone photoreceptor light response and recovery of response in bright light (By similarity).

References:

[1]. Li Jiang, et al. A novel GCAP1(N104K) mutation in EF-hand 3 (EF3) linked to autosomal dominant cone dystrophy. Vision Res. 2008 Oct;48(23-24):2425-32. [Content Brief]

[2]. Veronique B D Kitiratschky, et al. Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase. Hum Mutat. 2009 Aug;30(8):E782-96. [Content Brief]

[3]. Igor V Peshenko, et al. A G86R mutation in the calcium-sensor protein GCAP1 alters regulation of retinal guanylyl cyclase and causes dominant cone-rod degeneration. J Biol Chem. 2019 Mar 8;294(10):3476-3488. [Content Brief]

[4]. Valerio Marino, et al. A novel p.(Glu111Val) missense mutation in GUCA1A associated with cone-rod dystrophy leads to impaired calcium sensing and perturbed second messenger homeostasis in photoreceptors. Hum Mol Genet. 2018 Dec 15;27(24):4204-4217. [Content Brief]

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