GUCA1A - guanylate cyclase activator 1A Gene

Also Known as COD3; GCAP; GUCA; GCAP1; GUCA1; CORD14; C6orf131

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2978

About GUCA1A

Cytogenetic location: 6p21.1 Genomic coordinates (GRCh38): 6:42,173,364-42,180,056 (from NCBI)

This gene has 2 transcripts (splice variants), 168 orthologues, 14 paralogues and is associated with 7 phenotypes. Restricted expression toward testis (RPKM 15.8).

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 concentrations. Mutations in this gene can cause cone dystrophy 3 and code-rod dystrophy 14. provided by RefSeq, Jul 2020]

GUCA1A Products (1)

mRNA	Protein	Name
NM_001384910.1	NP_001371839.1	guanylyl cyclase-activating protein 1

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables guanylate cyclase regulator activity	IMP IMP: Inferred from mutant phenotype	30622141	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cone photoreceptor outer segment	IDA IDA: Inferred from direct assay	9620085	GOA
located in photoreceptor inner segment	IDA IDA: Inferred from direct assay	9620085	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GUCA1A Protein Structure

EF-hand_8

EF-hand_7

0
100
201 a.a.

Protein Preferred Names	Protein Names
guanylyl cyclase-activating protein 1	cone dystrophy 3

GUCA1A Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	GUCA1A	P43080	DEFB118	Homo sapiens	Q96PH6	Y2H Array	32296183
Intra	GUCA1A	P43080	DEFB118	Homo sapiens	Q96PH6	Y2H Prey Pooling	32296183
Intra	GUCA1A	P43080	DEFB118	Homo sapiens	Q96PH6	Validated Y2H	32296183
Intra	GUCA1A	P43080	C1QTNF5	Homo sapiens	Q9BXJ0	Y2H Prey Pooling	32296183
Intra	GUCA1A	P43080	C1QTNF5	Homo sapiens	Q9BXJ0	Y2H Array	32296183
Intra	GUCA1A	P43080	C1QTNF5	Homo sapiens	Q9BXJ0	Validated Y2H	32296183
Intra	GUCA1A	P43080	GSC2	Homo sapiens	O15499	Y2H Array	32296183
Intra	GUCA1A	P43080	GSC2	Homo sapiens	O15499	Y2H Prey Pooling	32296183
Intra	GUCA1A	P43080	PRKAR1B	Homo sapiens	P31321	Y2H Prey Pooling	32296183
Intra	GUCA1A	P43080	PRKAR1B	Homo sapiens	P31321	Y2H Array	32296183
Intra	GUCA1A	P43080	AGR2	Homo sapiens	O95994	Y2H Prey Pooling	32296183
Intra	GUCA1A	P43080	AGR2	Homo sapiens	O95994	Y2H Array	32296183
Intra	GUCA1A	P43080	DDIT4L	Homo sapiens	Q96D03	Y2H Prey Pooling	32296183
Intra	GUCA1A	P43080	DDIT4L	Homo sapiens	Q96D03	Y2H Array	32296183
Intra	GUCA1A	P43080	DDIT4L	Homo sapiens	Q96D03	Validated Y2H	32296183
Intra	GUCA1A	P43080	KATNAL1	Homo sapiens	Q9BW62	Y2H Prey Pooling	32296183
Intra	GUCA1A	P43080	KATNAL1	Homo sapiens	Q9BW62	Validated Y2H	32296183
Intra	GUCA1A	P43080	KATNAL1	Homo sapiens	Q9BW62	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant GUCA1A Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76944	GCAP1 Protein, Human (sf9)	P43080 (N-G&P, M1-G201)	≥ 85%, as determined by reducing SDS-PAGE.
HY-P76945	GCAP1 Protein, Human (sf9, His-GST)	P43080 (M1-G201)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Cone Dystrophy 3	Cone-Rod Dystrophy 14 COD3 Cone Dystrophy-3 Retinal Cone Dystrophy CORD14 Dystrophy, Cone, Type 3
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Isolated Macular Dystrophy
Choroidal Dystrophy, Central Areolar, 1	Choroidal Sclerosis Choroidal Dystrophy Choroidal Dystrophy, Central Areolar Cacd Central Areolar Choroidal Dystrophy CACD1 Choroidal Dystrophy, Central Areolar 1 Choroidal Dystrophy Central Areolar Central Areolar Choroidal Sclerosis Choroidal Degenerations Areolar Atrophy Of The Macula Partial Central Choroid Dystrophy Degenerative Choroidopathy Chorioretinal Degeneration Hereditary Chorioretinal Degeneration Hereditary Degeneration Of Choroid Hereditary Choroidal Dystrophies Generalised Choroidal Dystrophy Hereditary Choroidopathy
Progressive Cone Dystrophy	Cone Dystrophy Cone Dystrophy Progressive
Usher Syndrome	Deafness-Retinitis Pigmentosa Syndrome Dystrophia Retinae Pigmentosa-Dysostosis Syndrome Graefe-Usher Syndrome Hallgren Syndrome Usher'S Syndrome Retinitis Pigmentosa-Deafness Syndrome Retinitis Pigmentosa-Hearing Loss Syndrome Ush Usher Syndromes
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Cone Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
Retinal Disease	Retinal Diseases Retinal Disorder Retinal Disorders
Cone-Rod Dystrophy 6	CORD6 Retinal Cone Dystrophy 2 Rcd2 Dystrophy, Cone-Rod, Type 6 Retinitis Pigmentosa 6 Progressive Cone Degeneration Cone Dystrophy
Retinal Cone Dystrophy 1	RCD1 Retinal Cone Dystrophy-1 Retinal Cone Degeneration Cone Dystrophy, Autosomal Dominant Cone Dystrophy Autosomal Dominant Doid:0081024
Retinal Degeneration	Degeneration Of Retina
Leber Congenital Amaurosis 12	LCA12 Leber Congenital Amaurosis, Type 12
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Hereditary Choroidal Atrophy	Hereditary Choroidal Dystrophy
Partial Central Choroid Dystrophy	Choroidal Dystrophy, Central Areolar
Prolonged Electroretinal Response Suppression	Bradyopsia PERRS
Retinal Cone Dystrophy 4	RCD4 Doid:0081023 Dystrophy, Retinal Cone, Type 4
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Occult Macular Dystrophy	OCMD Omd Dystrophy, Macular, Occult
Nephronophthisis 4	NPHP4 Juvenile Nephronophthisis 4 Nephronophthisis 4, Juvenile Nephronophthisis, Type 4
Cone-Rod Dystrophy 3	CORD3 Dystrophy, Cone Rod, Type 3
Spherocytosis, Type 1	Hereditary Spherocytosis Type 1 SPH1 Hs1 Spherocytosis, Hereditary, 1 Sph Hs Hereditary Spherocytosis 1 Spherocytosis 1
Blue Cone Monochromacy	Blue Cone Monochromatism BCM Cbbm Color Blindness Blue Mono Cone Monochromatic Type Cone Dystrophy 5, X-Linked Colorblindness, Blue-Mono-Cone-Monochromatic Type Achromatopsia Incomplete X-Linked Incomplete Achromatopsia X-Linked X-Chromosome-Linked Achromatopsia X-Linked Achromatopsia Incomplete Atypical X-Linked Achromatopsia Color Blindness, Blue Monocone Monochromatic Type S Cone Monochromacy S Cone Monochromatism X-Linked Incomplete Achromatopsia Colorblindness Blue-Mono-Cone-Monochromatic Type Cone Dystrophy 5 COD5 Cone Dystrophy 5 X-Linked Monochromacy, Blue Cone Cone Monochromatism Achromatopsia Incomplete, X-Linked
Bardet-Biedl Syndrome 4	BBS4 Bardet-Biedl Syndrome, Type 4
Leber Congenital Amaurosis 1	LCA1 Amaurosis Congenita Of Leber I Lca Retinal Blindness, Congenital Crb Leber Congenital Amaurosis Type I Leber Congenital Amaurosis, Type 1 Amaurosis Congenita Of Leber, Type 1
Scotoma	Enlarged Blind Spot Scotoma Of Blind Spot Area Blind Spot Area Scotoma Enlarged Angioscotoma Enlarged Paracaecal Scotoma Generalized Visual Field Contraction Or Constriction Sector Or Arcuate Visual Field Defects
Eye Degenerative Disease
Achromatopsia	Achm Rod Monochromatism Total Color Blindness Rod Monochromacy Monochromatism Achromatism Complete Or Incomplete Color Blindness Pingelapese Blindness Achromatopsia 1 Achromatopsia 2 Achromatopsia 3
Color Blindness	Color Vision Defect Blindness Color Colour Blindness Colour Vision Deficiency Color Vision Deficiency Color Vision Defects Defective Color Vision Vision Defect, Color Color-Vision Disease Dyschromatopsia
Retinitis Pigmentosa 26	RP26 Retinitis Pigmentosa-26 Retinitis Pigmentosa, Type 26
Vitelliform Macular Dystrophy	Best Disease Juvenile-Onset Vitelliform Macular Dystrophy Macular Dystrophy, Vitelliform Best Macular Dystrophy Vitelliform Dystrophy
Gyrate Atrophy Of Choroid And Retina	Gyrate Atrophy Ornithine Aminotransferase Deficiency HOGA Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina Oat Deficiency Okt Deficiency Hyperornithinemia Ornithine Keto Acid Aminotransferase Deficiency Ornithine-Delta-Aminotransferase Deficiency Gyrate Atrophy Of The Choroid And Retina GACR Gyrate Atrophy Of Choroid And Retina With Or Without Ornithinemia Gyrate Atrophy Of The Retina Ornithinemia With Gyrate Atrophy Ornithinemia Fuchs Atrophia Gyrata Chorioideae Et Retinae Hyperornithinemia-Gyrate Atrophy Of Choroid And Retina Syndrome Gyrate Atrophy Of The Choroid And/Or Retina Girate Atrophy Of The Retina Ornithine Ketoacid Aminotransferase Deficiency Atrophy, Gyrate, Of Choroid And Retina
Stargardt Disease	Stargardt Disease 1 Stargardt Macular Dystrophy Stargardt Disease-1 Juvenile Onset Macular Degeneration Stargardt Macular Degeneration Juvenile Macular Degeneration Macular Dystrophy With Flecks, Type 1 Stgd Fundus Flavimaculatus Stargardt 1 Stargardts Disease
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05915	GUCA1A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19509	Guca1a Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26003	Guca1a Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	GUCA1A	VGNC	VGNC:41561
Rattus norvegicus	GUCA1A	RGD	RGD:1308712
Felis catus	GUCA1A	VGNC	VGNC:67509
Macaca mulatta	GUCA1A	VGNC	VGNC:73322
Mus musculus	GUCA1A	MGD	MGI:102770
Bos taurus	GUCA1A	VGNC	VGNC:29714
Others	GUCA1A	NCBI