Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	2978
Gene name	Guanylate cyclase activator 1A
Gene symbol	GUCA1A
Synonyms (NCBI Gene)	C6orf131COD3CORD14GCAPGCAP-1GCAP-IGCAP1GUCAGUCA1
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

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miRTarBase ID	miRNA	Experiments
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

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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

MIM	HGNC	e!Ensembl
600364	4678	ENSG00000048545

Interactions View interactions

KEGG Pathway	Reactome Pathway
Phototransduction	Inactivation, recovery and regulation of the phototransduction cascade

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)

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

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (13)
CENTRAL AREOLAR CHOROIDAL DYSTROPHY	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	28125083, 28125083	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL AREOLAR CHOROIDAL SCLEROSIS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE DYSTROPHY	—	Disgenet Disgenet	9425234, 15735604	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE ROD DYSTROPHY	—	Orphanet	23428504, 26992781	★★★★★ ★★☆☆☆ 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	23428504, 26992781	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CONE-ROD DYSTROPHY 14	—	CTD	28442884	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DYSTROPHY	—	Disgenet	28125083	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROGRESSIVE CONE DYSTROPHY	—	Disgenet, Orphanet Disgenet, Orphanet	15735604, 9425234	★★★★★ ★★☆☆☆ 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

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
GUCA1B	2	["Cone dystrophy","Cone-rod dystrophy"]	2	["Phototransduction","Inactivation, recovery and regulation of the phototransduction cascade"]	3	["Disgenet (Retinitis pigmentosa)","Disgenet (Cone dystrophy)","Disgenet (Cone-rod dystrophy)"]
GUCA1ANB-GUCA1A	4	["Cone dystrophy","Cone-rod dystrophy","Macular dystrophy","Usher syndrome"]	1	["Phototransduction"]	5	["Disgenet (Retinitis pigmentosa)","Disgenet (Cone dystrophy)","Disgenet (Cone-rod dystrophy)","Disgenet (Macular dystrophy)","Disgenet (Usher syndrome)"]
GUCY2D	4	["Central areolar choroidal dystrophy","Cone dystrophy","Cone-rod dystrophy","Macular dystrophy"]	2	["Phototransduction","Inactivation, recovery and regulation of the phototransduction cascade"]	8	["Disgenet (Retinitis pigmentosa)","Orphanet (Central areolar choroidal dystrophy)","Disgenet (Central areolar choroidal dystrophy)","Disgenet (Cone dystrophy)","Orphanet (Cone-rod dystrophy)","Disgenet (Cone-rod dystrophy)","GWAS catalog (Cone-rod dystrophy)","Disgenet (Macular dystrophy)"]
SAG	1	["Cone dystrophy"]	2	["Phototransduction","Inactivation, recovery and regulation of the phototransduction cascade"]	2	["Disgenet (Retinitis pigmentosa)","Disgenet (Cone dystrophy)"]
CDHR1	3	["Cone dystrophy","Cone-rod dystrophy","Macular dystrophy"]	0	[]	7	["Disgenet (Retinitis pigmentosa)","Disgenet (Cone dystrophy)","Orphanet (Cone-rod dystrophy)","Disgenet (Cone-rod dystrophy)","GWAS catalog (Cone-rod dystrophy)","CTD (Cone-rod dystrophy)","Disgenet (Macular dystrophy)"]

GUCA1A (guanylate cyclase activator 1A)

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