1. Gene
  2. GUCA1A - guanylate cyclase activator 1A Gene

GUCA1A - guanylate cyclase activator 1A Gene

Homo sapiens

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

Gene ID: 2978 | Gene type: protein coding

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

GUCA1A Protein Structure

EF-hand_8

EF-hand_8: EF-hand domain pair (31 - 80)

EF-hand_7

EF-hand_7: EF-hand domain pair (91 - 158)

  • 0
  • 100
  • 201 a.a.
Protein Preferred Names Protein Names

guanylyl cyclase-activating protein 1

cone dystrophy 3

Recombinant GUCA1A Proteins

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

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

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