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UniProtKB - P29973 (CNGA1_HUMAN)

Protein

cGMP-gated cation channel alpha-1

Gene

CNGA1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cyclic GMP which leads to an opening of the cation channel and thereby causing a depolarization of rod photoreceptors.

Caution

It is uncertain whether Met-1 or Met-5 is the initiator.Curated

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei546cGMPSequence analysis1
Binding sitei561cGMPSequence analysis1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi487 – 609cGMPSequence analysisAdd BLAST123

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionIon channel, Ligand-gated ion channel
Biological processIon transport, Sensory transduction, Transport, Vision
LigandcGMP, cGMP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-2485179 Activation of the phototransduction cascade
R-HSA-2514859 Inactivation, recovery and regulation of the phototransduction cascade

Protein family/group databases

TCDBi1.A.1.5.3 the voltage-gated ion channel (vic) superfamily

Names & Taxonomyi

Protein namesi
Recommended name:
cGMP-gated cation channel alpha-1
Alternative 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000198515.13
HGNCiHGNC:2148 CNGA1
MIMi123825 gene
neXtProtiNX_P29973

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 164CytoplasmicSequence analysisAdd BLAST164
Transmembranei165 – 185Helical; Name=H1Sequence analysisAdd BLAST21
Topological domaini186 – 198ExtracellularSequence analysisAdd BLAST13
Transmembranei199 – 217Helical; Name=H2Sequence analysisAdd BLAST19
Topological domaini218 – 241CytoplasmicSequence analysisAdd BLAST24
Transmembranei242 – 261Helical; Name=H3Sequence analysisAdd BLAST20
Topological domaini262 – 299ExtracellularSequence analysisAdd BLAST38
Transmembranei300 – 322Helical; Name=H4Sequence analysisAdd BLAST23
Topological domaini323 – 374CytoplasmicSequence analysisAdd BLAST52
Transmembranei375 – 394Helical; Name=H5Sequence analysisAdd BLAST20
Topological domaini395 – 478ExtracellularSequence analysisAdd BLAST84
Transmembranei479 – 499Helical; Name=H6Sequence analysisAdd BLAST21
Topological domaini500 – 690CytoplasmicSequence analysisAdd BLAST191

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Retinitis pigmentosa 49 (RP49)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
See also OMIM:613756
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_009297320S → F in RP49. 1 PublicationCorresponds to variant dbSNP:rs62625014EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNETi1259
GeneReviewsiCNGA1
MalaCardsiCNGA1
MIMi613756 phenotype
OpenTargetsiENSG00000198515
Orphaneti791 Retinitis pigmentosa
PharmGKBiPA26658

Chemistry databases

GuidetoPHARMACOLOGYi394

Polymorphism and mutation databases

BioMutaiCNGA1
DMDMi239938910

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002193081 – 690cGMP-gated cation channel alpha-1Add BLAST690

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi425N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiP29973
PeptideAtlasiP29973
PRIDEiP29973
ProteomicsDBi54614

PTM databases

iPTMnetiP29973
PhosphoSitePlusiP29973

Expressioni

Tissue specificityi

Rod cells in the retina.

Gene expression databases

BgeeiENSG00000198515 Expressed in 118 organ(s), highest expression level in amniotic fluid
CleanExiHS_CNGA1
ExpressionAtlasiP29973 baseline and differential
GenevisibleiP29973 HS

Interactioni

Subunit structurei

Tetramer formed of three CNGA1 and one CNGB1 modulatory subunits.By similarity

Binary interactionsi

Protein-protein interaction databases

BioGridi107659, 1 interactor
IntActiP29973, 2 interactors
MINTiP29973
STRINGi9606.ENSP00000384264

Structurei

3D structure databases

ProteinModelPortaliP29973
SMRiP29973
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili623 – 666By similarityAdd BLAST44

Domaini

The C-terminal coiled-coil domain mediates homotrimerization of CNGA subunits.By similarity

Sequence similaritiesi

Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGA1 subfamily. [View classification]Curated

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0500 Eukaryota
ENOG410YWWI LUCA
GeneTreeiENSGT00900000140801
HOGENOMiHOG000007898
HOVERGENiHBG000281
InParanoidiP29973
KOiK04948
OMAiMRHFKVK
OrthoDBiEOG091G03EW
PhylomeDBiP29973
TreeFamiTF319048

Family and domain databases

CDDicd00038 CAP_ED, 1 hit
Gene3Di2.60.120.10, 1 hit
InterProiView 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
PANTHERiPTHR10217:SF387 PTHR10217:SF387, 1 hit
PfamiView protein in Pfam
PF16526 CLZ, 1 hit
PF00027 cNMP_binding, 1 hit
PF00520 Ion_trans, 1 hit
SMARTiView protein in SMART
SM00100 cNMP, 1 hit
SUPFAMiSSF51206 SSF51206, 1 hit
PROSITEiView protein in PROSITE
PS00888 CNMP_BINDING_1, 1 hit
PS00889 CNMP_BINDING_2, 1 hit
PS50042 CNMP_BINDING_3, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P29973-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MKLSMKNNII NTQQSFVTMP NVIVPDIEKE IRRMENGACS SFSEDDDSAS 
        60         70         80         90        100
TSEESENENP HARGSFSYKS LRKGGPSQRE QYLPGAIALF NVNNSSNKDQ 
       110        120        130        140        150
EPEEKKKKKK EKKSKSDDKN ENKNDPEKKK KKKDKEKKKK EEKSKDKKEE 
       160        170        180        190        200
EKKEVVVIDP SGNTYYNWLF CITLPVMYNW TMVIARACFD ELQSDYLEYW 
       210        220        230        240        250
LILDYVSDIV YLIDMFVRTR TGYLEQGLLV KEELKLINKY KSNLQFKLDV 
       260        270        280        290        300
LSLIPTDLLY FKLGWNYPEI RLNRLLRFSR MFEFFQRTET RTNYPNIFRI 
       310        320        330        340        350
SNLVMYIVII IHWNACVFYS ISKAIGFGND TWVYPDINDP EFGRLARKYV 
       360        370        380        390        400
YSLYWSTLTL TTIGETPPPV RDSEYVFVVV DFLIGVLIFA TIVGNIGSMI 
       410        420        430        440        450
SNMNAARAEF QARIDAIKQY MHFRNVSKDM EKRVIKWFDY LWTNKKTVDE 
       460        470        480        490        500
KEVLKYLPDK LRAEIAINVH LDTLKKVRIF ADCEAGLLVE LVLKLQPQVY 
       510        520        530        540        550
SPGDYICKKG DIGREMYIIK EGKLAVVADD GVTQFVVLSD GSYFGEISIL 
       560        570        580        590        600
NIKGSKAGNR RTANIKSIGY SDLFCLSKDD LMEALTEYPD AKTMLEEKGK 
       610        620        630        640        650
QILMKDGLLD LNIANAGSDP KDLEEKVTRM EGSVDLLQTR FARILAEYES 
       660        670        680        690
MQQKLKQRLT KVEKFLKPLI DTEFSSIEGP GAESGPIDST
Length:690
Mass (Da):79,586
Last modified:June 16, 2009 - v3
Checksum:iF1045A210FE33DC0
GO
Isoform 2 (identifier: P29973-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MESRSSPRLECSGAISAHCSLHLPDSSDFQLIFVFLVEMGFHHVGQAGLELLISSDLPTSASQSAGITDM

Note: No experimental confirmation available.
Show »
Length:759
Mass (Da):86,900
Checksum:i5612065090CCE338
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RCF1D6RCF1_HUMAN
cGMP-gated cation channel alpha-1
CNGA1
128Annotation score:
D6R978D6R978_HUMAN
cGMP-gated cation channel alpha-1
CNGA1
99Annotation score:

Sequence cautioni

The sequence AAB22778 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti35E → V in BAF84710 (PubMed:14702039).Curated1
Sequence conflicti50S → Y in AAA52010 (PubMed:1372902).Curated1
Sequence conflicti89L → I in AAA52010 (PubMed:1372902).Curated1
Sequence conflicti150 – 151EE → HH in AAA52010 (PubMed:1372902).Curated2
Sequence conflicti209I → V in BAF84710 (PubMed:14702039).Curated1
Sequence conflicti543Y → T in AAA52010 (PubMed:1372902).Curated1
Sequence conflicti681 – 682GA → WS in AAA52010 (PubMed:1372902).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00929532R → Q1 PublicationCorresponds to variant dbSNP:rs76537883EnsemblClinVar.1
Natural variantiVAR_009296118D → N1 PublicationCorresponds to variant dbSNP:rs28642966EnsemblClinVar.1
Natural variantiVAR_047385122N → D. Corresponds to variant dbSNP:rs28642966EnsemblClinVar.1
Natural variantiVAR_009297320S → F in RP49. 1 PublicationCorresponds to variant dbSNP:rs62625014EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0471701M → MESRSSPRLECSGAISAHCS LHLPDSSDFQLIFVFLVEMG FHHVGQAGLELLISSDLPTS ASQSAGITDM in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M84741 mRNA Translation: AAA52010.1
S42457 mRNA Translation: AAB22778.1 Different initiation.
AK292021 mRNA Translation: BAF84710.1
AC096749 Genomic DNA No translation available.
AC107068 Genomic DNA Translation: AAY40919.1
CH471069 Genomic DNA Translation: EAW93048.1
S76062 Genomic DNA Translation: AAD14206.1
CCDSiCCDS43226.1 [P29973-1]
CCDS47050.1 [P29973-2]
PIRiA42161
RefSeqiNP_000078.2, NM_000087.3 [P29973-1]
NP_001136036.1, NM_001142564.1 [P29973-2]
XP_011511925.1, XM_011513623.2 [P29973-1]
XP_016863201.1, XM_017007712.1 [P29973-1]
UniGeneiHs.1323

Genome annotation databases

EnsembliENST00000358519; ENSP00000351320; ENSG00000198515 [P29973-1]
ENST00000402813; ENSP00000384264; ENSG00000198515 [P29973-2]
ENST00000420489; ENSP00000389881; ENSG00000198515 [P29973-1]
ENST00000514170; ENSP00000426862; ENSG00000198515 [P29973-1]
ENST00000544810; ENSP00000443401; ENSG00000198515 [P29973-2]
GeneIDi1259
KEGGihsa:1259
UCSCiuc003gxt.5 human [P29973-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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
S42457 mRNA Translation: AAB22778.1 Different initiation.
AK292021 mRNA Translation: BAF84710.1
AC096749 Genomic DNA No translation available.
AC107068 Genomic DNA Translation: AAY40919.1
CH471069 Genomic DNA Translation: EAW93048.1
S76062 Genomic DNA Translation: AAD14206.1
CCDSiCCDS43226.1 [P29973-1]
CCDS47050.1 [P29973-2]
PIRiA42161
RefSeqiNP_000078.2, NM_000087.3 [P29973-1]
NP_001136036.1, NM_001142564.1 [P29973-2]
XP_011511925.1, XM_011513623.2 [P29973-1]
XP_016863201.1, XM_017007712.1 [P29973-1]
UniGeneiHs.1323

3D structure databases

ProteinModelPortaliP29973
SMRiP29973
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107659, 1 interactor
IntActiP29973, 2 interactors
MINTiP29973
STRINGi9606.ENSP00000384264

Chemistry databases

GuidetoPHARMACOLOGYi394

Protein family/group databases

TCDBi1.A.1.5.3 the voltage-gated ion channel (vic) superfamily

PTM databases

iPTMnetiP29973
PhosphoSitePlusiP29973

Polymorphism and mutation databases

BioMutaiCNGA1
DMDMi239938910

Proteomic databases

PaxDbiP29973
PeptideAtlasiP29973
PRIDEiP29973
ProteomicsDBi54614

Protocols and materials databases

DNASUi1259
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000358519; ENSP00000351320; ENSG00000198515 [P29973-1]
ENST00000402813; ENSP00000384264; ENSG00000198515 [P29973-2]
ENST00000420489; ENSP00000389881; ENSG00000198515 [P29973-1]
ENST00000514170; ENSP00000426862; ENSG00000198515 [P29973-1]
ENST00000544810; ENSP00000443401; ENSG00000198515 [P29973-2]
GeneIDi1259
KEGGihsa:1259
UCSCiuc003gxt.5 human [P29973-1]

Organism-specific databases

CTDi1259
DisGeNETi1259
EuPathDBiHostDB:ENSG00000198515.13
GeneCardsiCNGA1
GeneReviewsiCNGA1
H-InvDBiHIX0031530
HIX0031590
HGNCiHGNC:2148 CNGA1
MalaCardsiCNGA1
MIMi123825 gene
613756 phenotype
neXtProtiNX_P29973
OpenTargetsiENSG00000198515
Orphaneti791 Retinitis pigmentosa
PharmGKBiPA26658
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0500 Eukaryota
ENOG410YWWI LUCA
GeneTreeiENSGT00900000140801
HOGENOMiHOG000007898
HOVERGENiHBG000281
InParanoidiP29973
KOiK04948
OMAiMRHFKVK
OrthoDBiEOG091G03EW
PhylomeDBiP29973
TreeFamiTF319048

Enzyme and pathway databases

ReactomeiR-HSA-2485179 Activation of the phototransduction cascade
R-HSA-2514859 Inactivation, recovery and regulation of the phototransduction cascade

Miscellaneous databases

ChiTaRSiCNGA1 human
GeneWikiiCyclic_nucleotide-gated_channel_alpha_1
GenomeRNAii1259
PROiPR:P29973
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000198515 Expressed in 118 organ(s), highest expression level in amniotic fluid
CleanExiHS_CNGA1
ExpressionAtlasiP29973 baseline and differential
GenevisibleiP29973 HS

Family and domain databases

CDDicd00038 CAP_ED, 1 hit
Gene3Di2.60.120.10, 1 hit
InterProiView 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
PANTHERiPTHR10217:SF387 PTHR10217:SF387, 1 hit
PfamiView protein in Pfam
PF16526 CLZ, 1 hit
PF00027 cNMP_binding, 1 hit
PF00520 Ion_trans, 1 hit
SMARTiView protein in SMART
SM00100 cNMP, 1 hit
SUPFAMiSSF51206 SSF51206, 1 hit
PROSITEiView protein in PROSITE
PS00888 CNMP_BINDING_1, 1 hit
PS00889 CNMP_BINDING_2, 1 hit
PS50042 CNMP_BINDING_3, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCNGA1_HUMAN
AccessioniPrimary (citable) accession number: P29973
Secondary accession number(s): A8K7K6
, J3KPZ2, Q16279, Q16485, Q4W5E3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1993
Last sequence update: June 16, 2009
Last modified: November 7, 2018
This is version 186 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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