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P29973 (CNGA1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 145. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:CNGA1
Synonyms:CNCG, CNCG1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length690 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

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

Subcellular location

Membrane; Multi-pass membrane protein.

Tissue specificity

Rod cells in the retina.

Domain

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

Involvement in disease

Retinitis pigmentosa 49 (RP49) [MIM:613756]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7 Ref.8

Sequence similarities

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

Contains 1 cyclic nucleotide-binding domain.

Caution

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

Sequence caution

The sequence AAB22778.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

GRB14Q5ICW44EBI-8417095,EBI-7639273From a different organism.
Grb14Q9JLM92EBI-8417095,EBI-8347358From a different organism.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P29973-1)

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.
Isoform 2 (identifier: P29973-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MESRSSPRLECSGAISAHCSLHLPDSSDFQLIFVFLVEMGFHHVGQAGLELLISSDLPTSASQSAGITDM
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 690690cGMP-gated cation channel alpha-1
PRO_0000219308

Regions

Topological domain1 – 164164Cytoplasmic Potential
Transmembrane165 – 18521Helical; Name=H1; Potential
Topological domain186 – 19813Extracellular Potential
Transmembrane199 – 21719Helical; Name=H2; Potential
Topological domain218 – 24124Cytoplasmic Potential
Transmembrane242 – 26120Helical; Name=H3; Potential
Topological domain262 – 29938Extracellular Potential
Transmembrane300 – 32223Helical; Name=H4; Potential
Topological domain323 – 37452Cytoplasmic Potential
Transmembrane375 – 39420Helical; Name=H5; Potential
Topological domain395 – 47884Extracellular Potential
Transmembrane479 – 49921Helical; Name=H6; Potential
Topological domain500 – 690191Cytoplasmic Potential
Nucleotide binding487 – 609123cGMP Potential
Coiled coil623 – 66644 By similarity

Sites

Binding site5461cGMP Potential
Binding site5611cGMP Potential

Amino acid modifications

Glycosylation4251N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence11M → MESRSSPRLECSGAISAHCS LHLPDSSDFQLIFVFLVEMG FHHVGQAGLELLISSDLPTS ASQSAGITDM in isoform 2.
VSP_047170
Natural variant321R → Q. Ref.7
Corresponds to variant rs76537883 [ dbSNP | Ensembl ].
VAR_009295
Natural variant1181D → N. Ref.7
Corresponds to variant rs28642966 [ dbSNP | Ensembl ].
VAR_009296
Natural variant1221N → D.
Corresponds to variant rs28642966 [ dbSNP | Ensembl ].
VAR_047385
Natural variant3201S → F in RP49. Ref.7
Corresponds to variant rs62625014 [ dbSNP | Ensembl ].
VAR_009297

Experimental info

Sequence conflict351E → V in BAF84710. Ref.3
Sequence conflict501S → Y in AAA52010. Ref.1
Sequence conflict891L → I in AAA52010. Ref.1
Sequence conflict150 – 1512EE → HH in AAA52010. Ref.1
Sequence conflict2091I → V in BAF84710. Ref.3
Sequence conflict5431Y → T in AAA52010. Ref.1
Sequence conflict681 – 6822GA → WS in AAA52010. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 16, 2009. Version 3.
Checksum: F1045A210FE33DC0

FASTA69079,586
        10         20         30         40         50         60 
MKLSMKNNII NTQQSFVTMP NVIVPDIEKE IRRMENGACS SFSEDDDSAS TSEESENENP 

        70         80         90        100        110        120 
HARGSFSYKS LRKGGPSQRE QYLPGAIALF NVNNSSNKDQ EPEEKKKKKK EKKSKSDDKN 

       130        140        150        160        170        180 
ENKNDPEKKK KKKDKEKKKK EEKSKDKKEE EKKEVVVIDP SGNTYYNWLF CITLPVMYNW 

       190        200        210        220        230        240 
TMVIARACFD ELQSDYLEYW LILDYVSDIV YLIDMFVRTR TGYLEQGLLV KEELKLINKY 

       250        260        270        280        290        300 
KSNLQFKLDV LSLIPTDLLY FKLGWNYPEI RLNRLLRFSR MFEFFQRTET RTNYPNIFRI 

       310        320        330        340        350        360 
SNLVMYIVII IHWNACVFYS ISKAIGFGND TWVYPDINDP EFGRLARKYV YSLYWSTLTL 

       370        380        390        400        410        420 
TTIGETPPPV RDSEYVFVVV DFLIGVLIFA TIVGNIGSMI SNMNAARAEF QARIDAIKQY 

       430        440        450        460        470        480 
MHFRNVSKDM EKRVIKWFDY LWTNKKTVDE KEVLKYLPDK LRAEIAINVH LDTLKKVRIF 

       490        500        510        520        530        540 
ADCEAGLLVE LVLKLQPQVY SPGDYICKKG DIGREMYIIK EGKLAVVADD GVTQFVVLSD 

       550        560        570        580        590        600 
GSYFGEISIL NIKGSKAGNR RTANIKSIGY SDLFCLSKDD LMEALTEYPD AKTMLEEKGK 

       610        620        630        640        650        660 
QILMKDGLLD LNIANAGSDP KDLEEKVTRM EGSVDLLQTR FARILAEYES MQQKLKQRLT 

       670        680        690 
KVEKFLKPLI DTEFSSIEGP GAESGPIDST 

« Hide

Isoform 2 [UniParc].

Checksum: 5612065090CCE338
Show »

FASTA75986,900

References

« Hide 'large scale' references
[1]"Primary structure and chromosomal localization of human and mouse rod photoreceptor cGMP-gated cation channel."
Pittler S.J., Lee A.K., Altherr M.R., Howard T.A., Seldin M.F., Hurwitz R.L., Wasmuth J.J., Baehr W.
J. Biol. Chem. 267:6257-6262(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Retina.
[2]"Human rod photoreceptor cGMP-gated channel: amino acid sequence, gene structure, and functional expression."
Dhallan R.S., Macke J.P., Eddy R.L., Shows T.B., Reed R.R., Yau K.-W., Nathans J.
J. Neurosci. 12:3248-3256(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
Tissue: Retina.
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Spleen.
[4]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"Expression of cyclic nucleotide-gated cation channels in non-sensory tissues and cells."
Distler M., Biel M., Flockerzi V., Hofmann F.
Neuropharmacology 33:1275-1282(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 317-577.
[7]"Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa."
Dryja T.P., Finn J.T., Peng Y.-W., McGee T.L., Berson E.L., Yau K.-W.
Proc. Natl. Acad. Sci. U.S.A. 92:10177-10181(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT RP49 PHE-320, VARIANTS GLN-32 AND ASN-118.
[8]"Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation."
Zhang Q., Zulfiqar F., Riazuddin S.A., Xiao X., Ahmad Z., Riazuddin S., Hejtmancik J.F.
Mol. Vis. 10:884-889(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN RP49.
+Additional computationally mapped references.

Web resources

Mutations of the CNGA1 gene

Retina International's Scientific Newsletter

GeneReviews

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRA42161.
RefSeqNP_000078.2. NM_000087.3.
NP_001136036.1. NM_001142564.1.
XP_005248106.1. XM_005248049.1.
UniGeneHs.1323.

3D structure databases

ProteinModelPortalP29973.
SMRP29973. Positions 303-398, 404-596, 623-672.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107659. 1 interaction.
IntActP29973. 2 interactions.
MINTMINT-7004260.
STRING9606.ENSP00000384264.

Chemistry

ChEMBLCHEMBL1628476.
GuidetoPHARMACOLOGY394.

Protein family/group databases

TCDB1.A.1.5.3. the voltage-gated ion channel (vic) superfamily.

PTM databases

PhosphoSiteP29973.

Polymorphism databases

DMDM239938910.

Proteomic databases

PaxDbP29973.
PRIDEP29973.

Protocols and materials databases

DNASU1259.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000358519; ENSP00000351320; ENSG00000198515. [P29973-1]
ENST00000402813; ENSP00000384264; ENSG00000198515. [P29973-2]
ENST00000420489; ENSP00000389881; ENSG00000198515. [P29973-1]
ENST00000514170; ENSP00000426862; ENSG00000198515. [P29973-1]
ENST00000544810; ENSP00000443401; ENSG00000198515. [P29973-1]
GeneID1259.
KEGGhsa:1259.
UCSCuc003gxt.4. human. [P29973-1]

Organism-specific databases

CTD1259.
GeneCardsGC04M047853.
H-InvDBHIX0031530.
HIX0031590.
HGNCHGNC:2148. CNGA1.
MIM123825. gene.
613756. phenotype.
neXtProtNX_P29973.
Orphanet791. Retinitis pigmentosa.
PharmGKBPA26658.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG300025.
HOGENOMHOG000007898.
HOVERGENHBG000281.
InParanoidP29973.
KOK04948.
OMAWTMVIAR.
OrthoDBEOG771268.
TreeFamTF319048.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.
REACT_116125. Disease.

Gene expression databases

ArrayExpressP29973.
BgeeP29973.
CleanExHS_CNGA1.
GenevestigatorP29973.

Family and domain databases

Gene3D2.60.120.10. 1 hit.
InterProIPR018490. cNMP-bd-like.
IPR018488. cNMP-bd_CS.
IPR000595. cNMP-bd_dom.
IPR005821. Ion_trans_dom.
IPR014710. RmlC-like_jellyroll.
[Graphical view]
PfamPF00027. cNMP_binding. 1 hit.
PF00520. Ion_trans. 1 hit.
[Graphical view]
SMARTSM00100. cNMP. 1 hit.
[Graphical view]
SUPFAMSSF51206. SSF51206. 1 hit.
PROSITEPS00888. CNMP_BINDING_1. 1 hit.
PS00889. CNMP_BINDING_2. 1 hit.
PS50042. CNMP_BINDING_3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiCyclic_nucleotide-gated_channel_alpha_1.
GenomeRNAi1259.
NextBio35535235.
PROP29973.
SOURCESearch...

Entry information

Entry nameCNGA1_HUMAN
AccessionPrimary (citable) accession number: P29973
Secondary accession number(s): A8K7K6 expand/collapse secondary AC list , J3KPZ2, Q16279, Q16485, Q4W5E3
Entry history
Integrated into UniProtKB/Swiss-Prot: April 1, 1993
Last sequence update: June 16, 2009
Last modified: March 19, 2014
This is version 145 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM