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)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 29.2931
    Cell Significance Index: -7.4300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 11.6447
    Cell Significance Index: 733.9300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 3.5844
    Cell Significance Index: 186.2000
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 2.6361
    Cell Significance Index: 24.2800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 1.4208
    Cell Significance Index: 270.3900
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 1.3674
    Cell Significance Index: 15.9000
  • Cell Name: peg cell (CL4033014)
    Fold Change: 1.0280
    Cell Significance Index: 23.7500
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.9163
    Cell Significance Index: 13.7300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.8681
    Cell Significance Index: 85.8700
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.7362
    Cell Significance Index: 10.3400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.7201
    Cell Significance Index: 129.8200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6913
    Cell Significance Index: 624.1800
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 0.6718
    Cell Significance Index: 4.1500
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 0.6262
    Cell Significance Index: 5.2600
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.5663
    Cell Significance Index: 9.5400
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.5639
    Cell Significance Index: 61.3400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.5074
    Cell Significance Index: 100.7000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.4926
    Cell Significance Index: 22.3300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4184
    Cell Significance Index: 68.0500
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.3405
    Cell Significance Index: 2.6200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2930
    Cell Significance Index: 20.2700
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2220
    Cell Significance Index: 4.8100
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.2067
    Cell Significance Index: 2.8200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2023
    Cell Significance Index: 24.8800
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.2013
    Cell Significance Index: 2.4000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1987
    Cell Significance Index: 5.7300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1519
    Cell Significance Index: 19.4700
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.1464
    Cell Significance Index: 2.2700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1109
    Cell Significance Index: 3.1000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0821
    Cell Significance Index: 2.0500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.0624
    Cell Significance Index: 38.9400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0569
    Cell Significance Index: 2.0000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0425
    Cell Significance Index: 4.9500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0381
    Cell Significance Index: 20.8300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0371
    Cell Significance Index: 1.7300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0364
    Cell Significance Index: 16.0800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0358
    Cell Significance Index: 7.1900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0351
    Cell Significance Index: 1.6500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0218
    Cell Significance Index: 0.4700
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 0.0144
    Cell Significance Index: 0.1800
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0111
    Cell Significance Index: 0.1900
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.0111
    Cell Significance Index: 0.2300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0007
    Cell Significance Index: -1.2800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0013
    Cell Significance Index: -2.0000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0023
    Cell Significance Index: -1.7300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0025
    Cell Significance Index: -4.5900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0031
    Cell Significance Index: -1.1300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0038
    Cell Significance Index: -5.2300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0047
    Cell Significance Index: -0.3300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0058
    Cell Significance Index: -0.1500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0060
    Cell Significance Index: -1.2700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0062
    Cell Significance Index: -3.4800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0066
    Cell Significance Index: -4.1900
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.0088
    Cell Significance Index: -0.1300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0089
    Cell Significance Index: -1.5200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0090
    Cell Significance Index: -6.6100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0091
    Cell Significance Index: -6.9000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0127
    Cell Significance Index: -3.6400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0136
    Cell Significance Index: -6.1600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0162
    Cell Significance Index: -1.6500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0166
    Cell Significance Index: -2.1400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0180
    Cell Significance Index: -2.0600
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0279
    Cell Significance Index: -0.9000
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0289
    Cell Significance Index: -1.0600
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0300
    Cell Significance Index: -3.4300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0308
    Cell Significance Index: -4.4800
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.0339
    Cell Significance Index: -0.5700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0360
    Cell Significance Index: -2.2100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0410
    Cell Significance Index: -5.6300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0480
    Cell Significance Index: -3.6900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0579
    Cell Significance Index: -2.5600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0629
    Cell Significance Index: -2.3800
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0696
    Cell Significance Index: -8.2100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0707
    Cell Significance Index: -7.3600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0778
    Cell Significance Index: -5.2300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0836
    Cell Significance Index: -4.3900
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0845
    Cell Significance Index: -3.6700
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0904
    Cell Significance Index: -1.3000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0907
    Cell Significance Index: -5.0900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0953
    Cell Significance Index: -7.5500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0993
    Cell Significance Index: -6.1100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1026
    Cell Significance Index: -7.6500
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1073
    Cell Significance Index: -2.9200
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: -0.1147
    Cell Significance Index: -1.4300
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.1241
    Cell Significance Index: -1.2900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1261
    Cell Significance Index: -6.5700
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1307
    Cell Significance Index: -3.8500
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: -0.1476
    Cell Significance Index: -1.9900
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1500
    Cell Significance Index: -4.0200
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.1535
    Cell Significance Index: -7.7600
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: -0.1574
    Cell Significance Index: -1.0500
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1579
    Cell Significance Index: -5.5300
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.1606
    Cell Significance Index: -1.3100
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1677
    Cell Significance Index: -5.3400
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -0.1696
    Cell Significance Index: -1.4000
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.1701
    Cell Significance Index: -4.1200
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.1704
    Cell Significance Index: -2.4300
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1775
    Cell Significance Index: -5.8100
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: -0.1786
    Cell Significance Index: -1.8900
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: -0.1799
    Cell Significance Index: -1.6400

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **CNG Channel Subunit:** CNGA1 is a subunit of the CNG channel, a ligand-gated ion channel that allows the flow of cations ( primarily Na+ and Ca2+) into the cell upon binding of cyclic nucleotides (cGMP or cAMP). 2. **Visual Perception:** The CNG channel, comprising CNGA1, is essential for photoreceptor cell function and visual perception. Its activation leads to a hyperpolarization of the photoreceptor membrane, reducing the release of neurotransmitters and modulating visual signal transmission. 3. **Cellular Expression:** CNGA1 is expressed in various cell types, including retinal rod and cone cells, bladder urothelial cells, and peripheral neurons. 4. **Regulation:** CNGA1 is subject to regulation by various signaling pathways, including the phototransduction cascade, cGMP signaling, and calcium signaling. **Pathways and Functions:** 1. **Phototransduction Cascade:** The CNG channel, comprising CNGA1, plays a critical role in the phototransduction cascade, which converts light into electrical signals in photoreceptor cells. 2. **Intracellular Signaling:** CNGA1 is involved in various intracellular signaling pathways, including cGMP signaling, calcium signaling, and protein-protein interactions. 3. **Sensory Perception:** The CNG channel, comprising CNGA1, is essential for sensory perception, including visual perception, olfaction, and mechanoreception. 4. **Cellular Regulation:** CNGA1 regulates various cellular processes, including cell proliferation, differentiation, and survival. **Clinical Significance:** Dysregulation of the CNGA1 gene has been implicated in various diseases, including: 1. **Retinitis Pigmentosa:** Mutations in the CNGA1 gene have been associated with retinitis pigmentosa, a degenerative eye disorder characterized by progressive vision loss. 2. **Bladder Dysfunction:** Alterations in CNGA1 expression have been linked to bladder dysfunction, including overactive bladder and urinary incontinence. 3. **Neurological Disorders:** CNGA1 has been implicated in various neurological disorders, including epilepsy, Parkinson's disease, and multiple sclerosis. In conclusion, the CNGA1 gene plays a critical role in visual perception, sensory processing, and cellular regulation. Its dysregulation has been implicated in various diseases, highlighting the importance of this gene in human health and disease. Further research is needed to fully understand the mechanisms of CNGA1 and its role in human disease.

Genular Protein ID: 3190298118

Symbol: CNGA1_HUMAN

Name: Cyclic nucleotide-gated 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 13 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 DrugCentral 1 EMBL 7 EMDB 12 Ensembl 3 ExpressionAtlas 1 GO 15 Gene3D 4 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 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 12 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 4 Rhea 7 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TCDB 1 TreeFam 1 UCSC 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: 11764791

Title: Nomenclature for ion channel subunits.

PubMed ID: 11764791

DOI: 10.1126/science.294.5549.2095

PubMed ID: 33651975

Title: Structural mechanisms of gating and selectivity of human rod CNGA1 channel.

PubMed ID: 33651975

DOI: 10.1016/j.neuron.2021.02.007

PubMed ID: 34699778

Title: Structural mechanisms of assembly, permeation, gating, and pharmacology of native human rod CNG channel.

PubMed ID: 34699778

DOI: 10.1016/j.neuron.2021.10.006

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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.