CNGA1 (cyclic nucleotide gated channel subunit alpha 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 1259
Gene name Cyclic nucleotide gated channel subunit alpha 1
Gene symbol CNGA1
Synonyms (NCBI Gene)
CNCGCNCG1CNG-1CNG1RCNC1RCNCaRCNCalphaRP49
Chromosome 4
Chromosome location 4p12
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 th
miRNA miRNA information provided by mirtarbase database.
7
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (7)
miRTarBase ID miRNA Experiments Reference
MIRT899509 hsa-miR-2053 CLIP-seq
MIRT899510 hsa-miR-4501 CLIP-seq
MIRT899511 hsa-miR-548c-3p CLIP-seq
MIRT899512 hsa-miR-569 CLIP-seq
MIRT2436274 hsa-miR-4778-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (37)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001750 Component Photoreceptor outer segment IEA
GO:0005216 Function Monoatomic ion channel activity IEA
GO:0005221 Function Intracellularly cyclic nucleotide-activated monoatomic cation channel activity IEA
GO:0005222 Function Intracellularly cAMP-activated cation channel activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
123825 2148 ENSG00000198515
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P29973
Protein name Cyclic nucleotide-gated channel alpha-1 (CNG channel alpha-1) (CNG-1) (CNG1) (Cyclic nucleotide-gated channel, photoreceptor) (Rod photoreceptor cGMP-gated cation channel subunit alpha) (cGMP-gated cation channel alpha-1)
Protein function Pore-forming subunit of the rod cyclic nucleotide-gated channel. Mediates rod photoresponses at dim light converting transient changes in intracellular cGMP levels into electrical signals. In the dark, cGMP levels are high and keep the channel o
PDB 7LFT , 7LFW , 7LFX , 7LFY , 7LG1 , 7RH9 , 7RHG , 7RHH , 7RHI , 7RHJ , 7RHK , 7RHL
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00520 Ion_trans 164 → 408 Ion transport protein Family
PF00027 cNMP_binding 497 → 588 Cyclic nucleotide-binding domain Domain
PF16526 CLZ 595 → 665 C-terminal leucine zipper domain of cyclic nucleotide-gated channels Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Rod cells in the retina.
Sequence 
MKLSMKNNIINTQQSFVTMPNVIVPDIEKEIRRMENGACSSFSEDDDSASTSEESENENP
HARGSFSYKSLRKGGPSQREQYLPGAIALFNVNNSSNKDQEPEEKKKKKKEKKSKSDDKN
ENKNDPEKKKKKKDKEKKKKEEKSKDKKEEEKKEVVVIDPSGNTYYNWLFCITLPVMYNW
TMVIARACFDELQSDYLEYWLILDYVSDIVYLIDMFVRTRTGYLEQGLLVKEELKLINKY
KSNLQFKLDVLSLIPTDLLYFKLGWNYPEIRLNRLLRFSRMFEFFQRTETRTNYPNIFRI
SNLVMYIVIIIHWNACVFYSISKAIGFGNDTWVYPDINDPEFGRLARKYVYSLYWSTLTL
TTIGETPPPVRDSEYVFVVVDFLIGVLIFATIVGNIGSMISNMNAARAEFQARIDAIKQY
MHFRNVSKDMEKRVIKWFDYLWTNKKTVDEKEVLKYLPDKLRAEIAINVHLDTLKKVRIF
ADCEAGLLVELVLKLQPQVYSPGDYICKKGDIGREMYIIKEGKLAVVADDGVTQFVVLSD
GSYFGEISILNIKGSKAGNRRTANIKSIGYSDLFCLSKDDLMEALTEYPDAKTMLEEKGK
QILMKDGLLDLNIANAGSDPKDLEEKVTRMEGSVDLLQTRFARILAEYESMQQKLKQRLT
KVEKFLKPLIDTEFSSIEGPGAESGPIDST
Sequence length 690
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  cGMP-PKG signaling pathway
cAMP signaling pathway
Phototransduction 		  Activation of the phototransduction cascade
Inactivation, recovery and regulation of the phototransduction cascade
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
218
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (8)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CNGA1-related disorder Pathogenic; Likely pathogenic rs1428479359, rs1436425494, rs62625014, rs772867912, rs1237954156 RCV004757423
RCV004757474
RCV004757110
RCV004757366
RCV004757374
CNGA1-related retinopathy Pathogenic rs544588016 RCV005361586
Cone-rod dystrophy Likely pathogenic; Pathogenic rs62625014 RCV000787818
Macular dystrophy Likely pathogenic; Pathogenic rs62625014 RCV000787817
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Optic atrophy Benign rs145846303 RCV004818342
Prostate cancer Uncertain significance rs759487836 RCV000205113
Retinitis Pigmentosa, Recessive Uncertain significance rs886059421, rs546830126, rs370912894 RCV000311764
RCV000276278
RCV000264829
Show/Hide Text Mining Associations (6)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Diabetic Retinopathy Associate 37318461
Familial Exudative Vitreoretinopathies Associate 40011896
Retinal Cone Dystrophy 1 Associate 39596324
Retinal Diseases Associate 25775262, 31877759
Retinal Dystrophies Associate 39596324
Retinitis Pigmentosa Associate 15570217, 25268133, 26802146, 27391953, 31960602, 32705276, 33633220, 35814500, 38340451