InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GUCA1B

Summary

InnateDB Protein

IDBP-87121.5

Last Modified

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

Gene Symbol

GUCA1B

Protein Name

guanylate cyclase activator 1B (retina)

Synonyms

GCAP2; GUCA2; RP48;

Species

Homo sapiens

Ensembl Protein

ENSP00000230361

InnateDB Gene

IDBG-87119 (GUCA1B)

Protein Structure

UniProt Annotation

Function

Stimulates guanylyl cyclase 1 (GC1) and GC2 when free calcium ions concentration is low, and GC1 and GC2 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

Cell membrane. Note=Membranes of outer segment.

Disease Associations

Retinitis pigmentosa 48 (RP48) [MIM:613827]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269PubMed:15452722}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Retina. Cones and rod.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005509	calcium ion binding
GO:0008048	calcium sensitive guanylate cyclase activator activity
GO:0030249	guanylate cyclase regulator activity

Biological Process

GO:0007168	receptor guanylyl cyclase signaling pathway
GO:0007267	cell-cell signaling
GO:0007589	body fluid secretion
GO:0007601	visual perception
GO:0007602	phototransduction
GO:0007603	phototransduction, visible light
GO:0016056	rhodopsin mediated signaling pathway
GO:0022400	regulation of rhodopsin mediated signaling pathway
GO:0031282	regulation of guanylate cyclase activity
GO:0031284	positive regulation of guanylate cyclase activity