GUCA1A Gene Summary [Human]
This locus represents naturally occurring readthrough transcription between the neighboring GUCA1ANB (GUCA1A neighbor) and GUCA1A (guanylate cyclase activator 1A) genes on chromosome 6. The readthrough transcript encodes the same protein as GUCA1A. [provided by RefSeq, Jul 2020]
Details
| Type | Protein Coding |
| Official Symbol | GUCA1A |
| Official Name | guanylate cyclase activator 1A [Source:HGNC Symbol;Acc:HGNC:4678] |
| Ensembl ID | ENSG00000048545 |
| Bio databases IDs | |
| Aliases | guanylate cyclase activator 1A, cone dystrophy 3 |
| Synonyms | GUCA1A, GUCA1ANB-GUCA1A readthrough |
| Species | Human, Homo sapiens |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human GUCA1A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- EF-hand, calcium binding motif
- EF-hand domain
- Dockerin type I domain
- calcium sensitive guanylate cyclase activator
- EF-hand domain pair
- EF hand
- EF-hand, calcium binding motif, found in parvalbumin-like EF-hand family
- calcium ion binding
- EFh
- protein binding
- guanylate cyclase regulator
Pathways
Biological processes and signaling networks where the GUCA1A gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- retinal dystrophy
- cone dystrophy type 3
- cone-rod dystrophy
- Usher syndrome
- retinitis pigmentosa
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- cellular membrane
- photoreceptor outer segments
- photoreceptor inner segments
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GUCA1A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of guanylate cyclase activity
- cellular response to calcium ion
- signal transduction
- positive regulation of cGMP-mediated signaling
- visual perception
- phototransduction
Cellular Component
Where in the cell the gene product is active
- photoreceptor inner segment
Molecular Function
What the gene product does at the molecular level
- guanylate cyclase regulator activity
- protein binding
- calcium ion binding
- calcium sensitive guanylate cyclase activator activity