GUCA1C
Guanylate Cyclase Activator 1C
Gene Information Card
| Symbol | GUCA1C |
|---|---|
| Full Name | Guanylate Cyclase Activator 1C |
| Gene Type | protein-coding |
| Chromosomal Location | 3q13.13 |
| NCBI Gene ID | 9626 ncbi.nlm.nih.gov/gene/9626 |
| Ensembl ID | ENSG00000163827 |
| UniProt ID | O95843 |
| OMIM ID | 602073 |
| HGNC ID | 4680 |
| Aliases | GCAP3, GUCA1C, guanylyl cyclase-activating protein 3 |
Description
GUCA1C encodes guanylate cyclase activator 1C (GCAP3), a calcium-binding protein expressed in photoreceptor cells. GCAP3 regulates retinal guanylyl cyclase activity in a calcium-dependent manner, modulating cGMP synthesis during phototransduction. Mutations in GUCA1C are associated with cone dystrophy and other retinal disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cone dystrophy | Impaired GCAP3 function disrupts cGMP regulation in cone photoreceptors, leading to cell death | ClinVar, OMIM |
| Retinitis pigmentosa (rare association) | Potential loss of GCAP3-mediated guanylyl cyclase activation in rods | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | High | Tissue-specific |
| Testis | Low | GTEx |
| Brain (cerebellum) | Low | GTEx |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | Not detected | ProteinAtlas |
| HEK293 | Low | ProteinAtlas |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.299G>A (p.Arg100Gln) | Missense | Rare | Associated with cone dystrophy; alters calcium binding |
| c.434C>T (p.Pro145Leu) | Missense | Rare | Likely pathogenic; disrupts GCAP3 function |
Mutation functional classification
Loss of Function (LOF)
Missense mutations impair calcium-dependent activation of guanylyl cyclase, reducing cGMP synthesis.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Possible for heterozygous missense mutations that interfere with wild-type GCAP3 function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Phototransduction cascade (Reactome: R-HSA-2514856)
• cGMP synthesis and hydrolysis (KEGG: hsa04744)
Protein Summary
GCAP3 is a 209-amino acid calcium-binding protein with three EF-hand domains. It is localized to photoreceptor outer segments and activates retinal guanylyl cyclase (GUCY2D/GUCY2F) when intracellular calcium levels drop after light stimulation. This restores cGMP levels, reopening cGMP-gated channels and recovering the dark state. GCAP3 is essential for normal cone function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GUCA1C Knockout HEK293 Cell Line | EDJ-KQ6663 | Human | 9626 | Details Get a Quote |
| GUCA1C Knockout HeLa Cell Line | EDJ-KQ55210 | Human | 9626 | Details Get a Quote |
| GUCA1C Knockout A-549 Cell Line | EDJ-KQ63692 | Human | 9626 | Details Get a Quote |
| GUCA1C Knockout HCT 116 Cell Line | EDJ-KQ72154 | Human | 9626 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
