InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GUCA1A

Summary

InnateDB Protein

IDBP-87066.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GUCA1A

Protein Name

guanylate cyclase activator 1A (retina)

Synonyms

C6orf131; COD3; CORD14; dJ139D8.6; GCAP; GCAP1; GUCA; GUCA1;

Species

Homo sapiens

Ensembl Protein

ENSP00000362049

InnateDB Gene

IDBG-87058 (GUCA1A)

Protein Structure

UniProt Annotation

Function

Stimulates guanylyl cyclase 1 (GC1) when free calcium ions concentration is low and inhibits GC1 when free calcium ions concentration is elevated. This Ca(2+)-sensitive regulation of GC is a key event in recovery of the dark state of rod photoreceptors following light exposure.

Subcellular Localization

Membrane; Lipid-anchor.

Disease Associations

Cone dystrophy 3 (COD3) [MIM:602093]: 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. {ECO:0000269PubMed:11146732, ECO:0000269PubMed:11484154, ECO:0000269PubMed:15505030, ECO:0000269PubMed:15735604, ECO:0000269PubMed:15790869, ECO:0000269PubMed:19459154, ECO:0000269PubMed:9425234}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Retina; cone outer and inner segments, in particular, in disk membrane regions, and to a lesser extent rod inner and outer segments.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005509	calcium ion binding

Biological Process

GO:0007165	signal transduction
GO:0007603	phototransduction, visible light
GO:0016056	rhodopsin mediated signaling pathway
GO:0022400	regulation of rhodopsin mediated signaling pathway