CNGA1 - cyclic nucleotide gated channel subunit alpha 1 Gene

Also Known as CNCG; CNG1; RP49; CNCG1; CNG-1; RCNC1; RCNCa; RCNCalpha

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1259

About CNGA1

Cytogenetic location: 4p12 Genomic coordinates (GRCh38): 4:47,935,977-48,016,681 (from NCBI)

This gene has 7 transcripts (splice variants), 273 orthologues, 17 paralogues and is associated with 4 phenotypes. Broad expression in liver (RPKM 2.5), small intestine (RPKM 1.6) and 17 other tissues.

Summary

The protein encoded by this gene is involved in phototransduction. Along with another protein, the encoded protein forms a cGMP-gated cation channel in the plasma membrane, allowing depolarization of rod photoreceptors. This represents the last step in the phototransduction pathway. Defects in this gene are a cause of retinitis pigmentosa autosomal recessive (ARRP) disease. Multiple transcript variants have been found for this gene. [provided by RefSeq, Oct 2019]

CNGA1 Products (3)

mRNA	Protein	Name
NM_000087.5	NP_000078.3	cGMP-gated cation channel alpha-1
NM_001142564.2	NP_001136036.2	cGMP-gated cation channel alpha-1
NM_001379270.1	NP_001366199.1	cGMP-gated cation channel alpha-1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables cAMP binding	IDA IDA: Inferred from direct assay	34699778	GOA
enables cGMP binding	IDA IDA: Inferred from direct assay	34699778	GOA
enables intracellularly cAMP-activated cation channel activity	IDA IDA: Inferred from direct assay	34699778	GOA
enables intracellularly cGMP-activated cation channel activity	IDA IDA: Inferred from direct assay	34699778	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20890309	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

CNGA1 Protein Structure

Ion_trans

cNMP_binding

0
200
400
600
690 a.a.

Protein Preferred Names	Protein Names
cGMP-gated cation channel alpha-1	CNG channel alpha-1

CNGA1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Cross	CNGA1	P29973	Grb14	Mus musculus	Q9JLM9	Anti Tag CoIP	20890309

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Retinitis Pigmentosa 49	RP49 Retinitis Pigmentosa, Type 49
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
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
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Retinitis Pigmentosa 45	RP45 Retinitis Pigmentosa, Type 45
Spondylosis	Lumbar Spondylosis With Myelopathy Lumbosacral Spondylosis Without Myelopathy Spondylogenic Compression Of Lumbar Spinal Cord Spondylogenic Compression Of Thoracic Spinal Cord Spondylosis With Myelopathy Thoracic Or Lumbar Spondylosis With Myelopathy
Retinitis Pigmentosa 88	RP88 Retinitis Pigmentosa, Type 88
Achromatopsia 2	ACHM2 Rod Monochromatism 2 Rod Monochromacy 2 Rmch2 Colorblindness, Total Complete Achromatopsia Total Colorblindness Achromatopsia-2 Achromatopsia, Type 2 Color Blindness Achromatopsia
Retinitis Pigmentosa 1	RP1 Retinitis Pigmentosa-1 Retinitis Pigmentosa, Type 1
Achromatopsia	Achm Rod Monochromatism Total Color Blindness Rod Monochromacy Monochromatism Achromatism Complete Or Incomplete Color Blindness Pingelapese Blindness Achromatopsia 1 Achromatopsia 2 Achromatopsia 3
Achromatopsia 3	ACHM3 Pingelapese Blindness Total Colorblindness With Myopia Achromatopsia With Myopia Achm1 Rmch1 Rod Monochromacy 1 Rod Monochromatism 1 Achm1, Formerly Rod Monochromatism 1, Formerly Rod Monochromacy 1, Formerly Rmch1, Formerly Achromatopsia-3 Achromatopsia, Type 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
Achromatopsia 7	ACHM7 Achromatopsia, Type 7
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
Macular Dystrophy, Dominant Cystoid	Cystoid Macular Edema DCMD Cystoid Macular Dystrophy Macular Edema, Cystoid Autosomal Dominant Cystoid Macular Edema Cymd Mddc Familial Macular Edema Macular Edema Macular Retinal Edema
Retinitis Pigmentosa 26	RP26 Retinitis Pigmentosa-26 Retinitis Pigmentosa, Type 26
Eye Degenerative Disease
Cone Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
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
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
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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02879	CNGA1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	CNGA1	VGNC	VGNC:39395
Felis catus	CNGA1	VGNC	VGNC:61011
Mus musculus	CNGA1	MGD	MGI:88436
Rattus norvegicus	CNGA1	RGD	RGD:621815
Bos taurus	CNGA1	VGNC	VGNC:27497
Macaca mulatta	CNGA1	VGNC	VGNC:71273
Others	CNGA1	NCBI