GUCA1A (guanylate cyclase activator 1A)

Gene

• Entrez ID: 2978
• Gene name: Guanylate cyclase activator 1A
• Gene symbol: GUCA1A
• Synonyms (NCBI Gene): C6orf131, COD3, CORD14, GCAP, GCAP-1, GCAP-I, GCAP1, GUCA, GUCA1
• Chromosome: 6
• Chromosome location: 6p21.1
• Summary: This gene encodes an enzyme that plays a role in the recovery of retinal photoreceptors from photobleaching. This enzyme promotes the activity of retinal guanylyl cyclase-1 (GC1) at low calcium concentrations and inhibits GC1 at high calcium concentration

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1038328	hsa-miR-2110	CLIP-seq
MIRT1038329	hsa-miR-3153	CLIP-seq
MIRT1038330	hsa-miR-320a	CLIP-seq
MIRT1038331	hsa-miR-320b	CLIP-seq
MIRT1038332	hsa-miR-320c	CLIP-seq
MIRT1038333	hsa-miR-320d	CLIP-seq
MIRT1038334	hsa-miR-320e	CLIP-seq
MIRT1038335	hsa-miR-4271	CLIP-seq
MIRT1038336	hsa-miR-4429	CLIP-seq
MIRT1038337	hsa-miR-4646-5p	CLIP-seq
MIRT1038338	hsa-miR-4668-5p	CLIP-seq
MIRT1038339	hsa-miR-4725-3p	CLIP-seq
MIRT1038340	hsa-miR-491-5p	CLIP-seq
MIRT2007837	hsa-miR-376c	CLIP-seq
MIRT2007838	hsa-miR-4797-3p	CLIP-seq
MIRT2240497	hsa-miR-1179	CLIP-seq
MIRT2007837	hsa-miR-376c	CLIP-seq
MIRT2007838	hsa-miR-4797-3p	CLIP-seq
MIRT2388875	hsa-miR-361-3p	CLIP-seq
MIRT2388876	hsa-miR-371b-3p	CLIP-seq
MIRT2388877	hsa-miR-4313	CLIP-seq
MIRT2388878	hsa-miR-512-3p	CLIP-seq
MIRT2007837	hsa-miR-376c	CLIP-seq
MIRT2007838	hsa-miR-4797-3p	CLIP-seq
MIRT2007837	hsa-miR-376c	CLIP-seq
MIRT2007838	hsa-miR-4797-3p	CLIP-seq
MIRT2007837	hsa-miR-376c	CLIP-seq
MIRT2007838	hsa-miR-4797-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0001917	Component	Photoreceptor inner segment	IBA
GO:0001917	Component	Photoreceptor inner segment	IDA	9620085
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005509	Function	Calcium ion binding	ISS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0007165	Process	Signal transduction	NAS	7983048
GO:0007601	Process	Visual perception	IBA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	9425234
GO:0007602	Process	Phototransduction	IEA
GO:0008048	Function	Calcium sensitive guanylate cyclase activator activity	IBA
GO:0008048	Function	Calcium sensitive guanylate cyclase activator activity	IEA
GO:0008048	Function	Calcium sensitive guanylate cyclase activator activity	ISS
GO:0008048	Function	Calcium sensitive guanylate cyclase activator activity	TAS	9425234
GO:0009966	Process	Regulation of signal transduction	IBA
GO:0010753	Process	Positive regulation of cGMP-mediated signaling	IEA
GO:0016020	Component	Membrane	IEA
GO:0030249	Function	Guanylate cyclase regulator activity	IEA
GO:0030249	Function	Guanylate cyclase regulator activity	IMP	30622141
GO:0030249	Function	Guanylate cyclase regulator activity	ISS
GO:0031284	Process	Positive regulation of guanylate cyclase activity	ISS
GO:0042995	Component	Cell projection	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0071277	Process	Cellular response to calcium ion	ISS
GO:0097381	Component	Photoreceptor disc membrane	IEA
GO:0097381	Component	Photoreceptor disc membrane	TAS
GO:0120199	Component	Cone photoreceptor outer segment	IBA
GO:0120199	Component	Cone photoreceptor outer segment	IDA	9620085
GO:0120199	Component	Cone photoreceptor outer segment	IEA

Other IDs

• MIM: 600364
• HGNC: 4678
• e!Ensembl: ENSG00000048545

Interactions View interactions

Pathways

KEGG:

Phototransduction

Reactome:

Inactivation, recovery and regulation of the phototransduction cascade

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Cone dystrophy 3	Pathogenic; Likely pathogenic	rs749013749, rs1768014561	RCV005253829 RCV005254641	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CENTRAL AREOLAR CHOROIDAL DYSTROPHY	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL AREOLAR CHOROIDAL SCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE DYSTROPHY	—	Disgenet Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE ROD DYSTROPHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-rod dystrophy	Conflicting classifications of pathogenicity	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CONE-ROD DYSTROPHY 14	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROGRESSIVE CONE DYSTROPHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations