UniProtKB - P29973 (CNGA1_HUMAN)
cGMP-gated cation channel alpha-1
CNGA1
Functioni
Subunit of the rod cyclic GMP-gated cation channel, which is involved in the final stage of the phototransduction pathway. When light hits rod photoreceptors, cGMP concentrations decrease causing rapid closure of CNGA1/CNGB1 channels and, therefore, hyperpolarization of the membrane potential.
By similaritySites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 542 | 3',5'-cGMPSequence analysis | 1 | |
Binding sitei | 557 | 3',5'-cGMPSequence analysis | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 483 – 605 | 3',5'-cGMPSequence analysisAdd BLAST | 123 |
GO - Molecular functioni
- cGMP binding Source: GO_Central
- intracellular cAMP-activated cation channel activity Source: GO_Central
- intracellular cGMP-activated cation channel activity Source: GO_Central
GO - Biological processi
- response to stimulus Source: UniProtKB-KW
- visual perception Source: ProtInc
Keywordsi
Molecular function | Ion channel, Ligand-gated ion channel |
Biological process | Ion transport, Sensory transduction, Transport, Vision |
Ligand | cGMP, cGMP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | P29973 |
Reactomei | R-HSA-2485179, Activation of the phototransduction cascade R-HSA-2514859, Inactivation, recovery and regulation of the phototransduction cascade |
SignaLinki | P29973 |
Protein family/group databases
TCDBi | 1.A.1.5.3, the voltage-gated ion channel (vic) superfamily |
Names & Taxonomyi
Protein namesi | Recommended name: cGMP-gated cation channel alpha-1Alternative name(s): Cyclic nucleotide-gated cation channel 1 Cyclic nucleotide-gated channel alpha-1 Short name: CNG channel alpha-1 Short name: CNG-1 Short name: CNG1 Cyclic nucleotide-gated channel, photoreceptor Rod photoreceptor cGMP-gated channel subunit alpha |
Gene namesi | Name:CNGA1 Synonyms:CNCG, CNCG1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:2148, CNGA1 |
MIMi | 123825, gene |
neXtProti | NX_P29973 |
VEuPathDBi | HostDB:ENSG00000198515 |
Subcellular locationi
Plasma membrane
- Cell membrane By similarity; Multi-pass membrane protein By similarity
Plasma Membrane
- integral component of plasma membrane Source: ProtInc
- photoreceptor outer segment membrane Source: Ensembl
- plasma membrane Source: Reactome
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 160 | CytoplasmicBy similarityAdd BLAST | 160 | |
Transmembranei | 161 – 181 | Helical; Name=S1By similarityAdd BLAST | 21 | |
Topological domaini | 182 – 194 | ExtracellularBy similarityAdd BLAST | 13 | |
Transmembranei | 195 – 213 | Helical; Name=S2By similarityAdd BLAST | 19 | |
Topological domaini | 214 – 235 | CytoplasmicBy similarityAdd BLAST | 22 | |
Transmembranei | 236 – 255 | Helical; Name=S3By similarityAdd BLAST | 20 | |
Topological domaini | 256 – 262 | ExtracellularBy similarity | 7 | |
Transmembranei | 263 – 284 | Helical; Name=S4By similarityAdd BLAST | 22 | |
Topological domaini | 285 – 295 | CytoplasmicBy similarityAdd BLAST | 11 | |
Transmembranei | 296 – 322 | Helical; Name=S5By similarityAdd BLAST | 27 | |
Topological domaini | 323 – 365 | ExtracellularBy similarityAdd BLAST | 43 | |
Transmembranei | 366 – 397 | Helical; Name=S6By similarityAdd BLAST | 32 | |
Topological domaini | 398 – 686 | CytoplasmicBy similarityAdd BLAST | 289 |
Keywords - Cellular componenti
Cell membrane, MembranePathology & Biotechi
Involvement in diseasei
Retinitis pigmentosa 49 (RP49)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_009297 | 316 | S → F in RP49. 1 PublicationCorresponds to variant dbSNP:rs62625014EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, Retinitis pigmentosaOrganism-specific databases
DisGeNETi | 1259 |
GeneReviewsi | CNGA1 |
MalaCardsi | CNGA1 |
MIMi | 613756, phenotype |
Orphaneti | 791, Retinitis pigmentosa |
PharmGKBi | PA26658 |
Miscellaneous databases
Pharosi | P29973, Tchem |
Chemistry databases
DrugBanki | DB04209, Dequalinium |
DrugCentrali | P29973 |
GuidetoPHARMACOLOGYi | 394 |
Genetic variation databases
BioMutai | CNGA1 |
DMDMi | 239938910 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000219308 | 1 – 686 | cGMP-gated cation channel alpha-1Add BLAST | 686 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 325 | N-linked (GlcNAc...) asparagineBy similarity | 1 |
Keywords - PTMi
GlycoproteinProteomic databases
jPOSTi | P29973 |
MassIVEi | P29973 |
PaxDbi | P29973 |
PeptideAtlasi | P29973 |
PRIDEi | P29973 |
PTM databases
GlyGeni | P29973, 1 site |
iPTMneti | P29973 |
PhosphoSitePlusi | P29973 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000198515, Expressed in amniotic fluid and 135 other tissues |
ExpressionAtlasi | P29973, baseline and differential |
Genevisiblei | P29973, HS |
Organism-specific databases
HPAi | ENSG00000198515, Tissue enriched (retina) |
Interactioni
Subunit structurei
Forms a heterotetramer with CNGB1 in a 3:1 ratio. May also form cyclic nucleotide-activated homotetrameric channels, that are efficiently activated by saturating cGMP, but poorly activated by saturating cAMP compared to the heterotetramer with CNGB1.
By similarityBinary interactionsi
P29973
With | #Exp. | IntAct |
---|---|---|
GRB14 [Q5ICW4] from Bos taurus. | 4 | EBI-8417095,EBI-7639273 |
Grb14 [Q9JLM9] from Mus musculus. | 2 | EBI-8417095,EBI-8347358 |
Protein-protein interaction databases
BioGRIDi | 107659, 39 interactors |
IntActi | P29973, 2 interactors |
MINTi | P29973 |
STRINGi | 9606.ENSP00000384264 |
Miscellaneous databases
RNActi | P29973, protein |
Structurei
Secondary structure
3D structure databases
AlphaFoldDBi | P29973 |
SMRi | P29973 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 35 – 79 | DisorderedSequence analysisAdd BLAST | 45 | |
Regioni | 91 – 153 | DisorderedSequence analysisAdd BLAST | 63 | |
Regioni | 346 – 356 | P-helixBy similarityAdd BLAST | 11 | |
Regioni | 357 – 365 | Selectivity filterBy similarity | 9 | |
Regioni | 398 – 480 | C-linkerBy similarityAdd BLAST | 83 | |
Regioni | 481 – 608 | Cyclic nucleotide-binding domain (CNBD)By similarityAdd BLAST | 128 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 619 – 662 | By similarityAdd BLAST | 44 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 98 – 131 | Basic and acidic residuesSequence analysisAdd BLAST | 34 | |
Compositional biasi | 139 – 153 | Basic and acidic residuesSequence analysisAdd BLAST | 15 |
Domaini
Sequence similaritiesi
Keywords - Domaini
Coiled coil, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG0500, Eukaryota |
HOGENOMi | CLU_005746_12_0_1 |
InParanoidi | P29973 |
OrthoDBi | 1073751at2759 |
PhylomeDBi | P29973 |
TreeFami | TF319048 |
Family and domain databases
CDDi | cd00038, CAP_ED, 1 hit |
Gene3Di | 2.60.120.10, 1 hit |
InterProi | View protein in InterPro IPR032406, CLZ_dom IPR032945, CNGA1 IPR018490, cNMP-bd-like IPR018488, cNMP-bd_CS IPR000595, cNMP-bd_dom IPR005821, Ion_trans_dom IPR014710, RmlC-like_jellyroll |
PANTHERi | PTHR45638:SF9, PTHR45638:SF9, 1 hit |
Pfami | View protein in Pfam PF16526, CLZ, 1 hit PF00027, cNMP_binding, 1 hit PF00520, Ion_trans, 1 hit |
SMARTi | View protein in SMART SM00100, cNMP, 1 hit |
SUPFAMi | SSF51206, SSF51206, 1 hit |
PROSITEi | View protein in PROSITE PS00888, CNMP_BINDING_1, 1 hit PS00889, CNMP_BINDING_2, 1 hit PS50042, CNMP_BINDING_3, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All
10 20 30 40 50
MKNNIINTQQ SFVTMPNVIV PDIEKEIRRM ENGACSSFSE DDDSASTSEE
60 70 80 90 100
SENENPHARG SFSYKSLRKG GPSQREQYLP GAIALFNVNN SSNKDQEPEE
110 120 130 140 150
KKKKKKEKKS KSDDKNENKN DPEKKKKKKD KEKKKKEEKS KDKKEEEKKE
160 170 180 190 200
VVVIDPSGNT YYNWLFCITL PVMYNWTMVI ARACFDELQS DYLEYWLILD
210 220 230 240 250
YVSDIVYLID MFVRTRTGYL EQGLLVKEEL KLINKYKSNL QFKLDVLSLI
260 270 280 290 300
PTDLLYFKLG WNYPEIRLNR LLRFSRMFEF FQRTETRTNY PNIFRISNLV
310 320 330 340 350
MYIVIIIHWN ACVFYSISKA IGFGNDTWVY PDINDPEFGR LARKYVYSLY
360 370 380 390 400
WSTLTLTTIG ETPPPVRDSE YVFVVVDFLI GVLIFATIVG NIGSMISNMN
410 420 430 440 450
AARAEFQARI DAIKQYMHFR NVSKDMEKRV IKWFDYLWTN KKTVDEKEVL
460 470 480 490 500
KYLPDKLRAE IAINVHLDTL KKVRIFADCE AGLLVELVLK LQPQVYSPGD
510 520 530 540 550
YICKKGDIGR EMYIIKEGKL AVVADDGVTQ FVVLSDGSYF GEISILNIKG
560 570 580 590 600
SKAGNRRTAN IKSIGYSDLF CLSKDDLMEA LTEYPDAKTM LEEKGKQILM
610 620 630 640 650
KDGLLDLNIA NAGSDPKDLE EKVTRMEGSV DLLQTRFARI LAEYESMQQK
660 670 680
LKQRLTKVEK FLKPLIDTEF SSIEGPGAES GPIDST
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketD6RCF1 | D6RCF1_HUMAN | cGMP-gated cation channel alpha-1 | CNGA1 | 124 | Annotation score: | ||
D6R978 | D6R978_HUMAN | cGMP-gated cation channel alpha-1 | CNGA1 | 95 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 1 | M → MKLSM in BAF84710 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 1 | M → MKLSM in AAA52010 (PubMed:1372902).Curated | 1 | |
Sequence conflicti | 31 | E → V in BAF84710 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 46 | S → Y in AAA52010 (PubMed:1372902).Curated | 1 | |
Sequence conflicti | 85 | L → I in AAA52010 (PubMed:1372902).Curated | 1 | |
Sequence conflicti | 146 – 147 | EE → HH in AAA52010 (PubMed:1372902).Curated | 2 | |
Sequence conflicti | 205 | I → V in BAF84710 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 539 | Y → T in AAA52010 (PubMed:1372902).Curated | 1 | |
Sequence conflicti | 677 – 678 | GA → WS in AAA52010 (PubMed:1372902).Curated | 2 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_009295 | 28 | R → Q1 PublicationCorresponds to variant dbSNP:rs76537883EnsemblClinVar. | 1 | |
Natural variantiVAR_009296 | 114 | D → N2 PublicationsCorresponds to variant dbSNP:rs28642966EnsemblClinVar. | 1 | |
Natural variantiVAR_047385 | 118 | N → D. Corresponds to variant dbSNP:rs28642966EnsemblClinVar. | 1 | |
Natural variantiVAR_009297 | 316 | S → F in RP49. 1 PublicationCorresponds to variant dbSNP:rs62625014EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M84741 mRNA Translation: AAA52010.1 Different initiation. S42457 mRNA Translation: AAB22778.1 AK292021 mRNA Translation: BAF84710.1 Different initiation. AC096749 Genomic DNA No translation available. AC107068 Genomic DNA Translation: AAY40919.1 CH471069 Genomic DNA Translation: EAW93048.1 S76062 Genomic DNA Translation: AAD14206.1 |
PIRi | A42161 |
RefSeqi | NP_000078.2, NM_000087.3 NP_001136036.1, NM_001142564.1 XP_016863201.1, XM_017007712.1 |
Genome annotation databases
Ensembli | ENST00000402813.9; ENSP00000384264.5; ENSG00000198515.16 ENST00000420489.7; ENSP00000389881.3; ENSG00000198515.16 ENST00000514170.7; ENSP00000426862.3; ENSG00000198515.16 |
GeneIDi | 1259 |
KEGGi | hsa:1259 |
MANE-Selecti | ENST00000514170.7; ENSP00000426862.3; NM_001379270.1; NP_001366199.1 |
UCSCi | uc003gxt.5, human |
Similar proteinsi
Cross-referencesi
Web resourcesi
Mutations of the CNGA1 gene Retina International's Scientific Newsletter |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M84741 mRNA Translation: AAA52010.1 Different initiation. S42457 mRNA Translation: AAB22778.1 AK292021 mRNA Translation: BAF84710.1 Different initiation. AC096749 Genomic DNA No translation available. AC107068 Genomic DNA Translation: AAY40919.1 CH471069 Genomic DNA Translation: EAW93048.1 S76062 Genomic DNA Translation: AAD14206.1 |
PIRi | A42161 |
RefSeqi | NP_000078.2, NM_000087.3 NP_001136036.1, NM_001142564.1 XP_016863201.1, XM_017007712.1 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
7LFT | electron microscopy | 2.60 | A/B/C/D | 140-686 | [»] | |
7LFW | electron microscopy | 2.90 | A/B/C/D | 140-686 | [»] | |
7LFX | electron microscopy | 3.10 | A/B/C/D | 140-686 | [»] | |
7LFY | electron microscopy | 3.60 | A/B/C/D | 140-686 | [»] | |
7LG1 | electron microscopy | 2.70 | A/B/C/D | 140-686 | [»] | |
7RH9 | electron microscopy | 2.61 | A/C/D | 140-686 | [»] | |
7RHG | electron microscopy | 2.88 | A/C/D | 140-686 | [»] | |
7RHH | electron microscopy | 3.31 | A/C/D | 140-686 | [»] | |
7RHI | electron microscopy | 3.31 | A/C/D | 140-686 | [»] | |
7RHJ | electron microscopy | 2.88 | A/C/D | 140-686 | [»] | |
7RHK | electron microscopy | 3.27 | A/C/D | 140-686 | [»] | |
7RHL | electron microscopy | 3.03 | A/C/D | 140-686 | [»] | |
AlphaFoldDBi | P29973 | |||||
SMRi | P29973 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 107659, 39 interactors |
IntActi | P29973, 2 interactors |
MINTi | P29973 |
STRINGi | 9606.ENSP00000384264 |
Chemistry databases
DrugBanki | DB04209, Dequalinium |
DrugCentrali | P29973 |
GuidetoPHARMACOLOGYi | 394 |
Protein family/group databases
TCDBi | 1.A.1.5.3, the voltage-gated ion channel (vic) superfamily |
PTM databases
GlyGeni | P29973, 1 site |
iPTMneti | P29973 |
PhosphoSitePlusi | P29973 |
Genetic variation databases
BioMutai | CNGA1 |
DMDMi | 239938910 |
Proteomic databases
jPOSTi | P29973 |
MassIVEi | P29973 |
PaxDbi | P29973 |
PeptideAtlasi | P29973 |
PRIDEi | P29973 |
Protocols and materials databases
Antibodypediai | 23791, 101 antibodies from 23 providers |
DNASUi | 1259 |
Genome annotation databases
Ensembli | ENST00000402813.9; ENSP00000384264.5; ENSG00000198515.16 ENST00000420489.7; ENSP00000389881.3; ENSG00000198515.16 ENST00000514170.7; ENSP00000426862.3; ENSG00000198515.16 |
GeneIDi | 1259 |
KEGGi | hsa:1259 |
MANE-Selecti | ENST00000514170.7; ENSP00000426862.3; NM_001379270.1; NP_001366199.1 |
UCSCi | uc003gxt.5, human |
Organism-specific databases
CTDi | 1259 |
DisGeNETi | 1259 |
GeneCardsi | CNGA1 |
GeneReviewsi | CNGA1 |
HGNCi | HGNC:2148, CNGA1 |
HPAi | ENSG00000198515, Tissue enriched (retina) |
MalaCardsi | CNGA1 |
MIMi | 123825, gene 613756, phenotype |
neXtProti | NX_P29973 |
Orphaneti | 791, Retinitis pigmentosa |
PharmGKBi | PA26658 |
VEuPathDBi | HostDB:ENSG00000198515 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0500, Eukaryota |
HOGENOMi | CLU_005746_12_0_1 |
InParanoidi | P29973 |
OrthoDBi | 1073751at2759 |
PhylomeDBi | P29973 |
TreeFami | TF319048 |
Enzyme and pathway databases
PathwayCommonsi | P29973 |
Reactomei | R-HSA-2485179, Activation of the phototransduction cascade R-HSA-2514859, Inactivation, recovery and regulation of the phototransduction cascade |
SignaLinki | P29973 |
Miscellaneous databases
BioGRID-ORCSi | 1259, 26 hits in 1064 CRISPR screens |
ChiTaRSi | CNGA1, human |
GeneWikii | Cyclic_nucleotide-gated_channel_alpha_1 |
GenomeRNAii | 1259 |
Pharosi | P29973, Tchem |
PROi | PR:P29973 |
RNActi | P29973, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000198515, Expressed in amniotic fluid and 135 other tissues |
ExpressionAtlasi | P29973, baseline and differential |
Genevisiblei | P29973, HS |
Family and domain databases
CDDi | cd00038, CAP_ED, 1 hit |
Gene3Di | 2.60.120.10, 1 hit |
InterProi | View protein in InterPro IPR032406, CLZ_dom IPR032945, CNGA1 IPR018490, cNMP-bd-like IPR018488, cNMP-bd_CS IPR000595, cNMP-bd_dom IPR005821, Ion_trans_dom IPR014710, RmlC-like_jellyroll |
PANTHERi | PTHR45638:SF9, PTHR45638:SF9, 1 hit |
Pfami | View protein in Pfam PF16526, CLZ, 1 hit PF00027, cNMP_binding, 1 hit PF00520, Ion_trans, 1 hit |
SMARTi | View protein in SMART SM00100, cNMP, 1 hit |
SUPFAMi | SSF51206, SSF51206, 1 hit |
PROSITEi | View protein in PROSITE PS00888, CNMP_BINDING_1, 1 hit PS00889, CNMP_BINDING_2, 1 hit PS50042, CNMP_BINDING_3, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | CNGA1_HUMAN | |
Accessioni | P29973Primary (citable) accession number: P29973 Secondary accession number(s): A8K7K6 Q4W5E3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 1, 1993 |
Last sequence update: | February 23, 2022 | |
Last modified: | May 25, 2022 | |
This is version 206 of the entry and version 4 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 4
Human chromosome 4: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families