Details for: CNGA1

Gene ID: 1259

Symbol: CNGA1

Ensembl ID: ENSG00000198515

Description: cyclic nucleotide gated channel subunit alpha 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 3.43
    Marker Score: 9788
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 2.9
    Marker Score: 865.5
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.48
    Marker Score: 169459
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.42
    Marker Score: 4643
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.37
    Marker Score: 867
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.31
    Marker Score: 1923
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 1.13
    Marker Score: 589
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71820
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48045
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 506
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 460
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.97
    Marker Score: 748
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.97
    Marker Score: 837
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.96
    Marker Score: 1065
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.92
    Marker Score: 5263
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2737
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 324
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5296
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.87
    Marker Score: 586
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.84
    Marker Score: 5381
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.84
    Marker Score: 3604
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1269
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.77
    Marker Score: 510
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 394
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.76
    Marker Score: 303
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.74
    Marker Score: 565
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.72
    Marker Score: 660
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.72
    Marker Score: 3864
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.71
    Marker Score: 144
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.7
    Marker Score: 2952.5
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 178
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.68
    Marker Score: 1382
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.65
    Marker Score: 10175
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.57
    Marker Score: 240
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 0.56
    Marker Score: 392
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.55
    Marker Score: 147
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.54
    Marker Score: 1278
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.52
    Marker Score: 1308
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.5
    Marker Score: 162
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.49
    Marker Score: 473
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.48
    Marker Score: 304.5
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.46
    Marker Score: 90
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.43
    Marker Score: 809.5
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.4
    Marker Score: 272
  • Cell Name: kidney loop of Henle epithelial cell (CL1000909)
    Fold Change: 0.4
    Marker Score: 248
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.37
    Marker Score: 388
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 0.37
    Marker Score: 202
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.37
    Marker Score: 216
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.37
    Marker Score: 389
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.37
    Marker Score: 154
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.37
    Marker Score: 370
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.36
    Marker Score: 217
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.35
    Marker Score: 498
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.35
    Marker Score: 110
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.34
    Marker Score: 2892
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.33
    Marker Score: 156
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.32
    Marker Score: 103
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 0.32
    Marker Score: 997
  • Cell Name: tracheal goblet cell (CL1000329)
    Fold Change: 0.32
    Marker Score: 896
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.31
    Marker Score: 312
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.31
    Marker Score: 117
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.31
    Marker Score: 1103
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.3
    Marker Score: 78
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.3
    Marker Score: 476
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.29
    Marker Score: 132
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.29
    Marker Score: 274
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 0.29
    Marker Score: 239
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.27
    Marker Score: 291
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.26
    Marker Score: 481
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.26
    Marker Score: 114
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.26
    Marker Score: 88
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.26
    Marker Score: 89
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 0.25
    Marker Score: 98
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.25
    Marker Score: 73
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.24
    Marker Score: 74
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 0.23
    Marker Score: 358
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.23
    Marker Score: 244
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.23
    Marker Score: 137
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.23
    Marker Score: 105
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.23
    Marker Score: 243
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.22
    Marker Score: 64
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.22
    Marker Score: 166
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.22
    Marker Score: 63
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.21
    Marker Score: 122
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.21
    Marker Score: 113
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 0.21
    Marker Score: 168
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.21
    Marker Score: 94
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.21
    Marker Score: 45
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.2
    Marker Score: 55
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.2
    Marker Score: 384
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 0.2
    Marker Score: 1551.5
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: 0.19
    Marker Score: 185
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.19
    Marker Score: 241
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.19
    Marker Score: 175
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.19
    Marker Score: 911
  • Cell Name: vascular associated smooth muscle cell (CL0000359)
    Fold Change: 0.19
    Marker Score: 86
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.19
    Marker Score: 63

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Other Information

## Summary The CNGA1 gene encodes for the cyclic GMP-gated channel alpha 1 protein, a key component of the cGMP-dependent phototransduction cascade in the retina of vertebrates. This channel is responsible for the generation of the photoresponse signal in rod and cone photoreceptors. ## Key characteristics * The CNGA1 gene is located on chromosome 19q21.1. * It is a single-exon gene encoding a protein of 353 amino acids. * The protein is a transmembrane protein with seven transmembrane domains, each of which is responsible for a different aspect of the channel's function. * The channel is a ligand-gated channel, meaning that its activity is modulated by the binding of a second messenger, cyclic GMP (cGMP). * The channel is also a calcium-dependent channel, meaning that its activity is modulated by changes in the concentration of calcium ions in the cell. ## Pathways and functions The CNGA1 gene is involved in a number of important pathways in the retina, including: * Activation of the phototransduction cascade: The CNGA1 protein is a key component of the phototransduction cascade, which is responsible for converting light into electrical signals that are sent to the brain. * Regulation of the phototransduction cascade: The CNGA1 protein is also involved in the regulation of the phototransduction cascade. It is expressed in rod and cone photoreceptors, where it is responsible for generating the photoresponse signal. * Intracellular calcium signaling: The CNGA1 protein is also involved in intracellular calcium signaling. It is expressed in rod and cone photoreceptors, where it is responsible for triggering the photoresponse signal. ## Clinical significance CNGA1 mutations are associated with a number of eye diseases, including retinitis pigmentosa, a degenerative eye disease that affects the retina and causes night blindness. Mutations in the CNGA1 gene can also cause other eye diseases, such as macular degeneration and cataracts.

Genular Protein ID: 3190298118

Symbol: CNGA1_HUMAN

Name: cGMP-gated cation channel alpha-1

UniProtKB Accession Codes:

P29973 A8K7K6 J3KPZ2 Q16279 Q16485 Q4W5E3

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 3 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 DrugCentral 1 EMBL 7 EMDB 12 Ensembl 3 ExpressionAtlas 1 GO 10 Gene3D 4 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 17 PDBsum 12 PIR 1 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 RNAct 1 Reactome 2 RefSeq 5 SAM 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1372902

Title: Primary structure and chromosomal localization of human and mouse rod photoreceptor cGMP-gated cation channel.

PubMed ID: 1372902

DOI: 10.1016/s0021-9258(18)42689-0

PubMed ID: 1379636

Title: Human rod photoreceptor cGMP-gated channel: amino acid sequence, gene structure, and functional expression.

PubMed ID: 1379636

DOI: 10.1523/jneurosci.12-08-03248.1992

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 7532814

Title: Expression of cyclic nucleotide-gated cation channels in non-sensory tissues and cells.

PubMed ID: 7532814

DOI: 10.1016/0028-3908(94)90027-2

PubMed ID: 7479749

Title: Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.

PubMed ID: 7479749

DOI: 10.1073/pnas.92.22.10177

PubMed ID: 15570217

Title: Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.

PubMed ID: 15570217

Sequence Information:

  • Length: 686
  • Mass: 79126
  • Checksum: E5200D216FC97AF6
  • Sequence:
    • MKNNIINTQQ SFVTMPNVIV PDIEKEIRRM ENGACSSFSE DDDSASTSEE SENENPHARG 
SFSYKSLRKG GPSQREQYLP GAIALFNVNN SSNKDQEPEE KKKKKKEKKS KSDDKNENKN 
DPEKKKKKKD KEKKKKEEKS KDKKEEEKKE VVVIDPSGNT YYNWLFCITL PVMYNWTMVI 
ARACFDELQS DYLEYWLILD YVSDIVYLID MFVRTRTGYL EQGLLVKEEL KLINKYKSNL 
QFKLDVLSLI PTDLLYFKLG WNYPEIRLNR LLRFSRMFEF FQRTETRTNY PNIFRISNLV 
MYIVIIIHWN ACVFYSISKA IGFGNDTWVY PDINDPEFGR LARKYVYSLY WSTLTLTTIG 
ETPPPVRDSE YVFVVVDFLI GVLIFATIVG NIGSMISNMN AARAEFQARI DAIKQYMHFR 
NVSKDMEKRV IKWFDYLWTN KKTVDEKEVL KYLPDKLRAE IAINVHLDTL KKVRIFADCE 
AGLLVELVLK LQPQVYSPGD YICKKGDIGR EMYIIKEGKL AVVADDGVTQ FVVLSDGSYF 
GEISILNIKG SKAGNRRTAN IKSIGYSDLF CLSKDDLMEA LTEYPDAKTM LEEKGKQILM 
KDGLLDLNIA NAGSDPKDLE EKVTRMEGSV DLLQTRFARI LAEYESMQQK LKQRLTKVEK 
FLKPLIDTEF SSIEGPGAES GPIDST

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.