GUCA1A (guanylate cyclase activator 1A)

2014-11-01  

Identity

HGNC
LOCATION
6p21.1
LOCUSID
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
194591542009Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase.37
155050302004A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration.35
155050302004A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration.35
127327162003Guanylate cyclase-activating protein (GCAP) 1 rescues cone recovery kinetics in GCAP1/GCAP2 knockout mice.34
157908692005A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD).31
155040422004Factors that determine Ca2+ sensitivity of photoreceptor guanylyl cyclase. Kinetic analysis of the interaction between the Ca2+-bound and the Ca2+-free guanylyl cyclase activating proteins (GCAPs) and recombinant photoreceptor guanylyl cyclase 1 (RetGC-1).27
185415332008Binding of guanylyl cyclase activating protein 1 (GCAP1) to retinal guanylyl cyclase (RetGC1). The role of individual EF-hands.24
219288302011Retinal degeneration 3 (RD3) protein inhibits catalytic activity of retinal membrane guanylyl cyclase (RetGC) and its stimulation by activating proteins.24
157356042005Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A).20
202380262010GCAP1 mutations associated with autosomal dominant cone dystrophy.17

Citation

Dessen P

GUCA1A (guanylate cyclase activator 1A)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64111/guca1a