GUCA1A
Guanylate Cyclase Activator 1A (Retinal)
Gene Information Card
| Symbol | GUCA1A |
|---|---|
| Full Name | Guanylate Cyclase Activator 1A |
| Gene Type | protein-coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 2978 ncbi.nlm.nih.gov/gene/2978 |
| Ensembl ID | ENSG00000112319 |
| UniProt ID | P43080 |
| OMIM ID | 600364 |
| HGNC ID | 4678 |
| Aliases | GCAP1, GCAP, GUCA1 |
Description
GUCA1A encodes guanylate cyclase activator 1A (GCAP1), a calcium-binding protein expressed in retinal photoreceptor cells. GCAP1 regulates retinal guanylyl cyclase (RetGC) activity in a calcium-dependent manner, playing a critical role in the recovery phase of phototransduction. Mutations in GUCA1A are associated with autosomal dominant cone dystrophy and other retinal degenerations.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cone Dystrophy 1 (COD1) | Missense mutations (e.g., p.Tyr99Cys, p.Glu155Gly) alter calcium sensitivity, leading to constitutive activation of RetGC and impaired phototransduction recovery. | ClinVar, OMIM |
| Macular Dystrophy, Dominant | Gain-of-function mutations cause elevated cGMP levels, contributing to photoreceptor cell death. | ClinVar, OMIM |
| Retinitis Pigmentosa (rare) | Some GUCA1A variants have been reported in patients with retinitis pigmentosa-like phenotypes. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | High | Tissue-specific |
| Testis | Low | Low expression |
| Brain | Very low | Minimal expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | Not detected | No significant expression |
| Y79 (retinoblastoma) | Moderate | Photoreceptor-like expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.296A>G (p.Tyr99Cys) | Missense | Rare | Gain-of-function; reduces calcium sensitivity, leading to constitutive RetGC activation |
| c.464A>G (p.Glu155Gly) | Missense | Rare | Gain-of-function; alters EF-hand domain, disrupts calcium binding |
| c.299G>A (p.Arg100Gln) | Missense | Rare | Likely gain-of-function; associated with cone dystrophy |
Mutation functional classification
Loss of Function (LOF)
Not well documented; most pathogenic variants are gain-of-function.
Gain of Function (GOF)
Common; mutations reduce calcium sensitivity, causing constitutive activation of RetGC and elevated cGMP.
Dominant Negative (DN)
Not reported; dominant inheritance is due to gain-of-function mechanism.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding | • guanylate cyclase activator activity |
| • phototransduction | • visual perception |
| • photoreceptor cell maintenance |
Pathways
• Phototransduction cascade
• cGMP-PKG signaling pathway
Protein Summary
GCAP1 is a 23 kDa calcium-binding protein containing four EF-hand motifs. In dark-adapted photoreceptors (low Ca2+), GCAP1 activates RetGC to synthesize cGMP, reopening cGMP-gated channels. In light (high Ca2+), GCAP1 inhibits RetGC. Mutations that impair calcium sensitivity lead to persistent RetGC activation, disrupting phototransduction and causing retinal degeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GUCA1A Knockout HEK293 Cell Line | EDJ-KQ77857 | Human | 2978 | Details Get a Quote |
| GUCA1A Knockout HeLa Cell Line | EDJ-KQ77858 | Human | 2978 | Details Get a Quote |
| GUCA1A Knockout A-549 Cell Line | EDJ-KQ77859 | Human | 2978 | Details Get a Quote |
| GUCA1A Knockout HCT 116 Cell Line | EDJ-KQ77860 | Human | 2978 | Details Get a Quote |
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