Version 5.4
Homo sapiens Gene: GUCA1A
Summary
InnateDB Gene IDBG-87058.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GUCA1A
Gene Name guanylate cyclase activator 1A (retina)
Synonyms C6orf131; COD3; CORD14; dJ139D8.6; GCAP; GCAP1; GUCA; GUCA1
Species Homo sapiens
Ensembl Gene ENSG00000048545
Encoded Proteins
IDBP-87062
guanylate cyclase activator 1A (retina)
IDBP-87066
guanylate cyclase activator 1A (retina)
IDBP-242002
guanylate cyclase activator 1A (retina)
IDBP-378725
guanylate cyclase activator 1A (retina)
IDBP-596252
guanylate cyclase activator 1A (retina)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene plays a role in the recovery of retinal photoreceptors from photobleaching. In the recovery phase, the phototransduction messeneger cGMP is replenished by retinal guanylyl cyclase-1 (GC1). GC1 is activated by decreasing Ca(2+) concentrations following photobleaching. The protein encoded by this gene, guanylyl cyclase activating protein 1 (GCAP1), mediates the sensitivity of GC1 to Ca(2+) concentrations. GCAP1 promotes activity of GC1 at low Ca(2+) concentrations and inhibits GC1 activity at high Ca(2+) concentrations. Mutations in this gene cause autosomal dominant cone dystrophy (COD3); a disease characterized by reduced visual acuity associated with progressive loss of color vision. Mutations in this gene prohibit the inactivation of RetGC1 at high Ca(2+) concentrations; causing the constitutive activation of RetGC1 and, presumably, increased cell death. This gene is expressed in retina and spermatagonia. [provided by RefSeq, Feb 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:42155406-42180056
Strand Forward strand
Band p21.1
Transcripts
ENST00000053469 ENSP00000053469
ENST00000372958 ENSP00000362049
ENST00000394237 ENSP00000377784
ENST00000418175 ENSP00000388438
ENST00000541991 ENSP00000437476
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
GO:0008048 calcium sensitive guanylate cyclase activator activity
GO:0030249 guanylate cyclase regulator activity
Biological Process
GO:0007165 signal transduction
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:0030828 positive regulation of cGMP biosynthetic process
GO:0031282 regulation of guanylate cyclase activity
GO:0031284 positive regulation of guanylate cyclase activity
Cellular Component
GO:0001750 photoreceptor outer segment
GO:0001917 photoreceptor inner segment
GO:0005578 proteinaceous extracellular matrix
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0097381 photoreceptor disc membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000023982
View Gene Order
ENSBTAG00000012823
Not yet available
Pathways
NETPATH
REACTOME
REACT_111102
Signal Transduction pathway
REACT_160102
Diseases associated with visual transduction pathway
REACT_160125
Visual phototransduction pathway
REACT_163722
The phototransduction cascade pathway
REACT_163919
Inactivation, recovery and regulation of the phototransduction cascade pathway
REACT_116125
Disease pathway
KEGG
hsa04740
Olfactory transduction pathway
hsa04744
Phototransduction pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_000409 XM_006715073 XM_006715292
HUGO
OMIM
CCDS CCDS4864
HPRD 02648
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca