Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 2978
MIM: 600364
HGNC: 4678
Ensembl: ENSG00000287363
Variants:
dbSNP: 2978
ClinVar: 2978
TCGA: ENSG00000287363
COSMIC: GUCA1A
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000287363 | ENST00000394237 | X6R8D5 |
| ENSG00000287363 | ENST00000418175 | A6PVH5 |
| ENSG00000287363 | ENST00000659095 | A0A590UK58 |
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33919796 | 2021 | Impaired Ca(2+) Sensitivity of a Novel GCAP1 Variant Causes Cone Dystrophy and Leads to Abnormal Synaptic Transmission Between Photoreceptors and Bipolar Cells. | 4 |
| 34639157 | 2021 | A Novel GUCA1A Variant Associated with Cone Dystrophy Alters cGMP Signaling in Photoreceptors by Strongly Interacting with and Hyperactivating Retinal Guanylate Cyclase. | 4 |
| 33919796 | 2021 | Impaired Ca(2+) Sensitivity of a Novel GCAP1 Variant Causes Cone Dystrophy and Leads to Abnormal Synaptic Transmission Between Photoreceptors and Bipolar Cells. | 4 |
| 34639157 | 2021 | A Novel GUCA1A Variant Associated with Cone Dystrophy Alters cGMP Signaling in Photoreceptors by Strongly Interacting with and Hyperactivating Retinal Guanylate Cyclase. | 4 |
| 31979372 | 2020 | Constitutive Activation of Guanylate Cyclase by the G86R GCAP1 Variant Is Due to "Locking" Cation-π Interactions that Impair the Activator-to-Inhibitor Structural Transition. | 4 |
| 32298085 | 2020 | Neuronal Calcium Sensor GCAP1 Encoded by GUCA1A Exhibits Heterogeneous Functional Properties in Two Cases of Retinitis Pigmentosa. | 6 |
| 32650103 | 2020 | Missense mutations affecting Ca(2+)-coordination in GCAP1 lead to cone-rod dystrophies by altering protein structural and functional properties. | 4 |
| 33027977 | 2020 | Modulation of Guanylate Cyclase Activating Protein 1 (GCAP1) Dimeric Assembly by Ca(2+) or Mg(2+): Hints to Understand Protein Activity. | 7 |
| 31979372 | 2020 | Constitutive Activation of Guanylate Cyclase by the G86R GCAP1 Variant Is Due to "Locking" Cation-π Interactions that Impair the Activator-to-Inhibitor Structural Transition. | 4 |
| 32298085 | 2020 | Neuronal Calcium Sensor GCAP1 Encoded by GUCA1A Exhibits Heterogeneous Functional Properties in Two Cases of Retinitis Pigmentosa. | 6 |
| 32650103 | 2020 | Missense mutations affecting Ca(2+)-coordination in GCAP1 lead to cone-rod dystrophies by altering protein structural and functional properties. | 4 |
| 33027977 | 2020 | Modulation of Guanylate Cyclase Activating Protein 1 (GCAP1) Dimeric Assembly by Ca(2+) or Mg(2+): Hints to Understand Protein Activity. | 7 |
| 30622141 | 2019 | A G86R mutation in the calcium-sensor protein GCAP1 alters regulation of retinal guanylyl cyclase and causes dominant cone-rod degeneration. | 25 |
| 31728034 | 2019 | Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies. | 0 |
| 31882816 | 2019 | Normal GCAPs partly compensate for altered cGMP signaling in retinal dystrophies associated with mutations in GUCA1A. | 11 |
Citation
Dessen P
GUCA1A (guanylate cyclase activator 1A)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64111/submit-meetings/
