Human Recombinant GCAP1 protein (V2LY-0526-LY4271)

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Basic Information

Expressed Host
Baculovirus-Insect Cells
Protein Species
Human
Protein Construction
This product is Human Recombinant GCAP1 protein consist of Amino Acid: 1-201 and predicts a molecular mass of 23.1 kDa.
Molecule Mass
23.1 kDa
Sequence
Amino Acid: 1-201
Species
Human

Formulations & Storage [For reference only, actual COA shall prevail!]

Purity
>85% as determined by SDS-PAGE
Endotoxin
Please contact us for more information.
Format
Lyophilized
Reconstitution
Allow the vial and reconstitution buffer to equilibrate to room temperature. Briefly centrifuge or tap down the vial to ensure that all lyophilized powder is collected at the bottom of the vial. For the reconstitution of this product, we recommend adding PBS or sterile water to achieve a final antibody concentration of 1 mg/mL. Allow the vial to reconstitute for 10-15 minutes at room temperature with gentle agitation. Avoid vigorous shaking that can cause foaming and antibody denaturation. Aliquot into volumes based on your experiment and store liquid protein at -20°C or -80°C for long time.
Buffer
Lyophilized from sterile
Preservative
None
Storage
Samples are stable for up to twelve months from date of receipt at -20°C to -80°C. Store it under sterile conditions at -20°C to -80°C. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.
More Infomation

Target

Full Name
guanylate cyclase activator 1A (retina)
Function
Stimulates retinal guanylyl cyclase when free calcium ions concentration is low and inhibits guanylyl cyclase when free calcium ions concentration is elevated (PubMed:19459154, PubMed:30622141, PubMed:18706439, PubMed:30184081).

This Ca2+-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).
Biological Process
Cellular response to calcium ion Source: UniProtKB
Phototransduction Source: Ensembl
Positive regulation of cGMP-mediated signaling Source: Ensembl
Positive regulation of guanylate cyclase activity Source: UniProtKB
Signal transduction Source: ProtInc
Visual perception Source: ProtInc
Cellular Location
Membrane; Photoreceptor inner segment; Photoreceptor outer segment. Present at higher levels in cone than in rod outer segments (PubMed:9620085). Subcellular location is not affected by light or dark conditions.
Involvement in disease
Cone dystrophy 3 (COD3):
An autosomal dominant cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs.
Cone-rod dystrophy 14 (CORD14):
An autosomal dominant form of cone-rod dystrophy, a retinal disease characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.

Allon, G., Arno, G., Robson, A. G., Neveu, M. M., Michaelides, M., Webster, A. R., & Mahroo, O. A. R. (2023). Genotypic and phenotypic findings in GUCA1A-associated retinopathy. Investigative Ophthalmology & Visual Science, 64(8), 4526-4526.

Varsanyi, B., Füstös, R., Vámos, R., Nagy, Z. Z., & Szabó, V. (2023). Novel mutation in GUCA1A gene causing autosomal dominant cone dystrophy in unrelated families from southwest Hungary. Investigative Ophthalmology & Visual Science, 64(8), 2793-2793.

Stepien, K. E., Stangel, N., & Rogers, J. (2022). Elucidating early cellular retinal structural changes in GUCA1A-related autosomal dominant cone dystrophy. Investigative Ophthalmology & Visual Science, 63(7), 4435-F0114.

Biasi, A., Marino, V., Dal Cortivo, G., Maltese, P. E., Modarelli, A. M., Bertelli, M., ... & Dell’Orco, D. (2021). A Novel GUCA1A Variant Associated with Cone Dystrophy Alters cGMP Signaling in Photoreceptors by Strongly Interacting with and Hyperactivating Retinal Guanylate Cyclase. International Journal of Molecular Sciences, 22(19), 10809.

Abbas, S., Marino, V., Weisschuh, N., Kieninger, S., Solaki, M., Dell’Orco, D., & Koch, K. W. (2020). Neuronal calcium sensor GCAP1 Encoded by GUCA1A exhibits heterogeneous functional properties in two cases of retinitis pigmentosa. ACS Chemical Neuroscience, 11(10), 1458-1470.

Jiang, Y. Y., O'Neil, E., Serrano, L., Pearson, D. J., Bennett, J., Aleman, T., & Morgan, J. I. W. (2020). Multi-modal adaptive optics imaging in GUCA1A-associated autosomal dominant cone-rod dystrophy. Investigative Ophthalmology & Visual Science, 61(7), 214-214.

Dell’Orco, D., & Dal Cortivo, G. (2019). Normal GCAPs partly compensate for altered cGMP signaling in retinal dystrophies associated with mutations in GUCA1A. Scientific Reports, 9(1), 1-11.

Mizobuchi, K., Hayashi, T., Katagiri, S., Yoshitake, K., Fujinami, K., Yang, L., ... & Nakano, T. (2019). Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies. Scientific Reports, 9(1), 1-9.

Marino, V., Dal Cortivo, G., Oppici, E., Maltese, P. E., D’Esposito, F., Manara, E., ... & Dell’Orco, D. (2018). 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. Human molecular genetics, 27(24), 4204-4217.

Zahid, S., Branham, K., Schlegel, D., Pennesi, M. E., Michaelides, M., Heckenlively, J., ... & Jayasundera, T. (2018). GUCA1A. Retinal Dystrophy Gene Atlas, 111-111.

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For research use only. Not intended for any clinical use.

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