GUCA1A (guanylate cyclase activator 1A)

2014-11-01  

Identity

HGNC
GUCA1A
LOCATION
6p21.1
LOCUSID
2978
ALIAS
C6orf131,COD3,CORD14,GCAP,GCAP1,GUCA,GUCA1

Other Information

Locus ID:

NCBI: 2978
MIM: 600364
HGNC: 4678
Ensembl: ENSG00000287363

Variants:

dbSNP: 2978
ClinVar: 2978
TCGA: ENSG00000287363
COSMIC: GUCA1A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000287363ENST00000394237X6R8D5
ENSG00000287363ENST00000418175A6PVH5
ENSG00000287363ENST00000659095A0A590UK58

Pathways

PathwaySourceExternal ID
PhototransductionKEGGko04744
PhototransductionKEGGhsa04744
Signal TransductionREACTOMER-HSA-162582
Visual phototransductionREACTOMER-HSA-2187338
The phototransduction cascadeREACTOMER-HSA-2514856
Inactivation, recovery and regulation of the phototransduction cascadeREACTOMER-HSA-2514859

References

Pubmed IDYearTitleCitations
339197962021Impaired Ca(2+) Sensitivity of a Novel GCAP1 Variant Causes Cone Dystrophy and Leads to Abnormal Synaptic Transmission Between Photoreceptors and Bipolar Cells.4
346391572021A Novel GUCA1A Variant Associated with Cone Dystrophy Alters cGMP Signaling in Photoreceptors by Strongly Interacting with and Hyperactivating Retinal Guanylate Cyclase.4
339197962021Impaired Ca(2+) Sensitivity of a Novel GCAP1 Variant Causes Cone Dystrophy and Leads to Abnormal Synaptic Transmission Between Photoreceptors and Bipolar Cells.4
346391572021A Novel GUCA1A Variant Associated with Cone Dystrophy Alters cGMP Signaling in Photoreceptors by Strongly Interacting with and Hyperactivating Retinal Guanylate Cyclase.4
319793722020Constitutive 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
322980852020Neuronal Calcium Sensor GCAP1 Encoded by GUCA1A Exhibits Heterogeneous Functional Properties in Two Cases of Retinitis Pigmentosa.6
326501032020Missense mutations affecting Ca(2+)-coordination in GCAP1 lead to cone-rod dystrophies by altering protein structural and functional properties.4
330279772020Modulation of Guanylate Cyclase Activating Protein 1 (GCAP1) Dimeric Assembly by Ca(2+) or Mg(2+): Hints to Understand Protein Activity.7
319793722020Constitutive 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
322980852020Neuronal Calcium Sensor GCAP1 Encoded by GUCA1A Exhibits Heterogeneous Functional Properties in Two Cases of Retinitis Pigmentosa.6
326501032020Missense mutations affecting Ca(2+)-coordination in GCAP1 lead to cone-rod dystrophies by altering protein structural and functional properties.4
330279772020Modulation of Guanylate Cyclase Activating Protein 1 (GCAP1) Dimeric Assembly by Ca(2+) or Mg(2+): Hints to Understand Protein Activity.7
306221412019A G86R mutation in the calcium-sensor protein GCAP1 alters regulation of retinal guanylyl cyclase and causes dominant cone-rod degeneration.25
317280342019Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies.0
318828162019Normal 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/guca1a-(guanylate-cyclase-activator-1a)