CNGA1 (cyclic nucleotide gated channel subunit alpha 1)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1259
Gene name Gene Name - the full gene name approved by the HGNC.
Cyclic nucleotide gated channel subunit alpha 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CNGA1
Synonyms (NCBI Gene) Gene synonyms aliases
CNCG, CNCG1, CNG-1, CNG1, RCNC1, RCNCa, RCNCalpha, RP49
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4p12
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
123825 2148 ENSG00000198515
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
retinal dystrophy Retinal dystrophy rs1738673948, rs749012133, rs1738698692, rs199584830, rs369717052, rs1237954156, rs62625014, rs772867912, rs199636364, rs768694789, rs759781200 N/A
Retinitis Pigmentosa retinitis pigmentosa 49, retinitis pigmentosa rs62625014, rs768694789, rs749012133, rs1578059695, rs759079269, rs1560621807, rs199584830, rs1738719686, rs867483436, rs1237954156, rs527236059, rs567961453, rs527236058, rs199636364, rs772867912
View all (6 more)		 N/A
cone-rod dystrophy Cone-rod dystrophy rs62625014 N/A
Macular dystrophy macular dystrophy rs62625014 N/A
Show/Hide Text Mining Associations (6)
Associations from Text Mining Disease 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