Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Pathways Associated diseases
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

Show/Hide all (28)

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

Show/Hide all (33)

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		Reactome
	Phototransduction		Inactivation, recovery and regulation of the phototransduction cascade

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cone dystrophy 3	Pathogenic; Likely pathogenic	rs749013749, rs1768014561	RCV005253829 RCV005254641

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cone-rod dystrophy	Conflicting classifications of pathogenicity	rs1768035931	RCV003324699
Uterine carcinosarcoma	Benign	rs76128208	RCV005918160

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Atrophy	Associate	31728034
Cone Dystrophy	Associate	10507726, 15735604, 18706439, 19459154, 20213926, 28442884, 31728034, 33919796, 34639157, 9651312
Cone Rod Dystrophies	Associate	10430891, 15790869, 24024198, 24352742, 28442884, 29555955, 30622141, 31728034, 31979372, 32650103
Genetic Diseases Inborn	Associate	38453143
Hearing Loss Functional	Associate	15790869
Hypertensive Retinopathy	Associate	30622141
Ichthyosis prematurity syndrome	Stimulate	29693144
Immunoglobulin G4 Related Disease	Associate	24024198
Leber Congenital Amaurosis	Associate	20050595, 26100624
Macular Degeneration	Associate	28442884
Night blindness congenital stationary	Associate	33109612
Retinal Cone Dystrophy 1	Associate	15735604, 15790869, 28442884, 31728034, 32025184, 34639157, 9651312
Retinal Degeneration	Associate	19459154, 24024198
Retinal Diseases	Associate	31728034, 38453143
Retinal Dystrophies	Associate	31804667
Retinitis	Associate	31728034
Retinitis Pigmentosa	Associate	28442884
Vision Disorders	Associate	15790869, 19459154, 24352742, 28442884, 31728034
Walker Warburg Syndrome	Associate	28442884, 32025184

GUCA1A (guanylate cyclase activator 1A)