Ca(2+)-binding proteins in the retina: from discovery to etiology of human disease(1).

Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1.

Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy.

Role of guanylate cyclase-activating proteins (GCAPs) in setting the flash sensitivity of rod photoreceptors.

The DNA sequence and analysis of human chromosome 6.

Complete sequencing and characterization of 21,243 full-length human cDNAs.

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration.

Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A).

A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD).

A novel GCAP1(N104K) mutation in EF-hand 3 (EF3) linked to autosomal dominant cone dystrophy.

Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase.

Novel GUCA1A mutation identified in a Chinese family with cone-rod dystrophy.

Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients.

Disease progression in autosomal dominant cone-rod dystrophy caused by a novel mutation (D100G) in the GUCA1A gene.

Two retinal dystrophy-associated missense mutations in GUCA1A with distinct molecular properties result in a similar aberrant regulation of the retinal guanylate cyclase.

Structure of Guanylyl Cyclase Activator Protein 1 (GCAP1) Mutant V77E in a Ca2+-free/Mg2+-bound Activator State.

Dysfunction of cGMP signalling in photoreceptors by a macular dystrophy-related mutation in the calcium sensor GCAP1.

GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity.

Cone dystrophy or macular dystrophy associated with novel autosomal dominant GUCA1A mutations.

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.

A G86R mutation in the calcium-sensor protein GCAP1 alters regulation of retinal guanylyl cyclase and causes dominant cone-rod degeneration.

Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies.

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.

Functional characterization of a novel GUCA1A missense mutation (D144G) in autosomal dominant cone dystrophy: A novel pathogenic GUCA1A variant in COD.

A reference map of the human binary protein interactome.

Missense mutations affecting Ca(2+)-coordination in GCAP1 lead to cone-rod dystrophies by altering protein structural and functional properties.

A Novel GUCA1A Variant Associated with Cone Dystrophy Alters cGMP Signaling in Photoreceptors by Strongly Interacting with and Hyperactivating Retinal Guanylate Cyclase.

Molecular characterization of human and mouse photoreceptor guanylate cyclase-activating protein (GCAP) and chromosomal localization of the human gene.

A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1.

The localization of guanylyl cyclase-activating proteins in the mammalian retina.

GUCA binds Ca2+ to form GUCA:Ca2+

Gene Ontology annotation through association of InterPro records with GO terms

Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity

Annotation inferences using phylogenetic trees

Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt

Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara

Electronic Gene Ontology annotations created by ARBA machine learning models

Combined Automated Annotation using Multiple IEA Methods

GUCA1A independent source evidence and target-specific phylogeny

UniProt record for GUCA1A (P43080; GUC1A_HUMAN)

UniProtKB record for GSC2 (O15499)

UniProtKB record for AGR2 (O95994)

UniProtKB record for PRKAR1B (P31321)

UniProtKB record for DDIT4L (Q96D03)

UniProtKB record for DEFB118 (Q96PH6)

UniProtKB record for KATNAL1 (Q9BW62)

UniProtKB record for C1QTNF5 (Q9BXJ0)