GUCA1B
GUCA1B Gene Summary
The protein encoded by this gene is a calcium-binding protein that activates photoreceptor guanylate cyclases. This gene may have arisen due to a gene duplication event since there is a highly similar gene clustered with it on chromosome 6. Mutations in this gene can cause a form of retinitis pigmentosa. [provided by RefSeq, Nov 2009]
Details
| Type | Protein Coding |
| Official Symbol | GUCA1B |
| Official Name | guanylate cyclase activator 1B [Source:HGNC Symbol;Acc:HGNC:4679] |
| Ensembl ID | ENSG00000112599 |
| Bio databases IDs | |
| Aliases | guanylate cyclase activator 1B |
| Synonyms | AC112683.3,GCAP-2,GCAP-II,guanylate cyclase activator 1B,GUCA2,RP48 |
| 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 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
- EF-hand, calcium binding motif
- EF-hand domain
- calcium sensitive guanylate cyclase activator
- EF-hand domain pair
- EF hand
- EFh
- protein binding
- guanylate cyclase regulator
- EFh_PI-PLC
Pathways
Biological processes and signaling networks where the GUCA1B gene 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.
binds
- OTX2
- YWHAE
- ZBTB7B
- SRC
- C1RL
- PTBP3
- LYPLA1
- SCARB2
- GBA1
- CTBP1
disease
- retinitis pigmentosa
- spinocerebellar ataxia type 7
- retinitis pigmentosa type 48
regulated by
- ESRRB
- NRL
- RABGEF1
- nilvadipine
regulates
- GUCY2D
- GUCY
- GUCY2F
role in cell
- electrophysiology
- activation in
- degeneration
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- microtubule cytoskeleton
- cilia
- cellular membrane
- basal bodies
- nucleoplasm
- nuclear envelope
- photoreceptor outer segments
- photoreceptor inner segments
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the GUCA1B gene, providing context for its role in the cell.
BIOLOGICAL PROCESS
Functions and activities the gene product is involved in
- regulation of guanylate cyclase activity
- cell-cell signaling
- receptor guanylyl cyclase signaling pathway
- visual perception
- body fluid secretion
CELLULAR COMPONENT
Where in the cell the gene product is active
- photoreceptor inner segment
- plasma membrane
MOLECULAR FUNCTION
What the gene product does at the molecular level
- protein binding
- calcium ion binding
- calcium sensitive guanylate cyclase activator activity