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
guanylate cyclase activator 1A (retina)
guanylate cyclase activator 1A (retina)
guanylate cyclase activator 1A (retina)
guanylate cyclase activator 1A (retina)
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
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Signal Transduction pathway
Diseases associated with visual transduction pathway
Visual phototransduction pathway
The phototransduction cascade pathway
Inactivation, recovery and regulation of the phototransduction cascade pathway
Disease pathway
KEGG
Olfactory transduction pathway
Phototransduction pathway
INOH
PID BIOCARTA
Visual signal transduction [Biocarta view]
PID NCI
Cross-References
SwissProt
TrEMBL A6PVH5
UniProt Splice Variant
Entrez Gene 2978
UniGene
RefSeq NM_000409 XM_006715073 XM_006715292
HUGO HGNC:4678
OMIM 600364
CCDS CCDS4864
HPRD 02648
IMGT
EMBL AL096814
GenPept
RNA Seq Atlas 102723903 2978