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P29973

- CNGA1_HUMAN

UniProt

P29973 - CNGA1_HUMAN

Protein

cGMP-gated cation channel alpha-1

Gene

CNGA1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 151 (01 Oct 2014)
      Sequence version 3 (16 Jun 2009)
      Previous versions | rss
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    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.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei546 – 5461cGMPSequence Analysis
    Binding sitei561 – 5611cGMPSequence Analysis

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi487 – 609123cGMPSequence AnalysisAdd
    BLAST

    GO - Molecular functioni

    1. cGMP binding Source: RefGenome
    2. intracellular cAMP activated cation channel activity Source: RefGenome
    3. intracellular cGMP activated cation channel activity Source: RefGenome
    4. protein binding Source: IntAct
    5. voltage-gated potassium channel activity Source: RefGenome

    GO - Biological processi

    1. phototransduction, visible light Source: Reactome
    2. potassium ion transmembrane transport Source: RefGenome
    3. regulation of membrane potential Source: RefGenome
    4. regulation of rhodopsin mediated signaling pathway Source: Reactome
    5. rhodopsin mediated signaling pathway Source: Reactome
    6. transport Source: ProtInc
    7. visual perception Source: ProtInc

    Keywords - Molecular functioni

    Ion channel, Ligand-gated ion channel

    Keywords - Biological processi

    Ion transport, Sensory transduction, Transport, Vision

    Keywords - Ligandi

    cGMP, cGMP-binding, Nucleotide-binding

    Enzyme and pathway databases

    ReactomeiREACT_163919. Inactivation, recovery and regulation of the phototransduction cascade.
    REACT_163932. Activation 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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:2148. CNGA1.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of plasma membrane Source: ProtInc
    2. photoreceptor outer segment membrane Source: Ensembl
    3. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti320 – 3201S → F in RP49. 1 Publication
    Corresponds to variant rs62625014 [ dbSNP | Ensembl ].
    VAR_009297

    Keywords - Diseasei

    Disease mutation, Retinitis pigmentosa

    Organism-specific databases

    MIMi613756. phenotype.
    Orphaneti791. Retinitis pigmentosa.
    PharmGKBiPA26658.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 690690cGMP-gated cation channel alpha-1PRO_0000219308Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi425 – 4251N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiP29973.
    PRIDEiP29973.

    PTM databases

    PhosphoSiteiP29973.

    Expressioni

    Tissue specificityi

    Rod cells in the retina.

    Gene expression databases

    ArrayExpressiP29973.
    BgeeiP29973.
    CleanExiHS_CNGA1.
    GenevestigatoriP29973.

    Interactioni

    Subunit structurei

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

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    GRB14Q5ICW44EBI-8417095,EBI-7639273From a different organism.
    Grb14Q9JLM92EBI-8417095,EBI-8347358From a different organism.

    Protein-protein interaction databases

    BioGridi107659. 1 interaction.
    IntActiP29973. 2 interactions.
    MINTiMINT-7004260.
    STRINGi9606.ENSP00000384264.

    Structurei

    3D structure databases

    ProteinModelPortaliP29973.
    SMRiP29973. Positions 348-596, 623-672.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 164164CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini186 – 19813ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini218 – 24124CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini262 – 29938ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini323 – 37452CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini395 – 47884ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini500 – 690191CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei165 – 18521Helical; Name=H1Sequence AnalysisAdd
    BLAST
    Transmembranei199 – 21719Helical; Name=H2Sequence AnalysisAdd
    BLAST
    Transmembranei242 – 26120Helical; Name=H3Sequence AnalysisAdd
    BLAST
    Transmembranei300 – 32223Helical; Name=H4Sequence AnalysisAdd
    BLAST
    Transmembranei375 – 39420Helical; Name=H5Sequence AnalysisAdd
    BLAST
    Transmembranei479 – 49921Helical; Name=H6Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili623 – 66644By similarityAdd
    BLAST

    Domaini

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

    Sequence similaritiesi

    Contains 1 cyclic nucleotide-binding domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Coiled coil, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG300025.
    HOGENOMiHOG000007898.
    HOVERGENiHBG000281.
    InParanoidiP29973.
    KOiK04948.
    OMAiWTMVIAR.
    OrthoDBiEOG771268.
    PhylomeDBiP29973.
    TreeFamiTF319048.

    Family and domain databases

    Gene3Di2.60.120.10. 1 hit.
    InterProiIPR018490. cNMP-bd-like.
    IPR018488. cNMP-bd_CS.
    IPR000595. cNMP-bd_dom.
    IPR005821. Ion_trans_dom.
    IPR014710. RmlC-like_jellyroll.
    [Graphical view]
    PfamiPF00027. cNMP_binding. 1 hit.
    PF00520. Ion_trans. 1 hit.
    [Graphical view]
    SMARTiSM00100. cNMP. 1 hit.
    [Graphical view]
    SUPFAMiSSF51206. SSF51206. 1 hit.
    PROSITEiPS00888. CNMP_BINDING_1. 1 hit.
    PS00889. CNMP_BINDING_2. 1 hit.
    PS50042. CNMP_BINDING_3. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    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

    MKLSMKNNII NTQQSFVTMP NVIVPDIEKE IRRMENGACS SFSEDDDSAS    50
    TSEESENENP HARGSFSYKS LRKGGPSQRE QYLPGAIALF NVNNSSNKDQ 100
    EPEEKKKKKK EKKSKSDDKN ENKNDPEKKK KKKDKEKKKK EEKSKDKKEE 150
    EKKEVVVIDP SGNTYYNWLF CITLPVMYNW TMVIARACFD ELQSDYLEYW 200
    LILDYVSDIV YLIDMFVRTR TGYLEQGLLV KEELKLINKY KSNLQFKLDV 250
    LSLIPTDLLY FKLGWNYPEI RLNRLLRFSR MFEFFQRTET RTNYPNIFRI 300
    SNLVMYIVII IHWNACVFYS ISKAIGFGND TWVYPDINDP EFGRLARKYV 350
    YSLYWSTLTL TTIGETPPPV RDSEYVFVVV DFLIGVLIFA TIVGNIGSMI 400
    SNMNAARAEF QARIDAIKQY MHFRNVSKDM EKRVIKWFDY LWTNKKTVDE 450
    KEVLKYLPDK LRAEIAINVH LDTLKKVRIF ADCEAGLLVE LVLKLQPQVY 500
    SPGDYICKKG DIGREMYIIK EGKLAVVADD GVTQFVVLSD GSYFGEISIL 550
    NIKGSKAGNR RTANIKSIGY SDLFCLSKDD LMEALTEYPD AKTMLEEKGK 600
    QILMKDGLLD LNIANAGSDP KDLEEKVTRM EGSVDLLQTR FARILAEYES 650
    MQQKLKQRLT KVEKFLKPLI DTEFSSIEGP GAESGPIDST 690
    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

    Sequence cautioni

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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti35 – 351E → V in BAF84710. (PubMed:14702039)Curated
    Sequence conflicti50 – 501S → Y in AAA52010. (PubMed:1372902)Curated
    Sequence conflicti89 – 891L → I in AAA52010. (PubMed:1372902)Curated
    Sequence conflicti150 – 1512EE → HH in AAA52010. (PubMed:1372902)Curated
    Sequence conflicti209 – 2091I → V in BAF84710. (PubMed:14702039)Curated
    Sequence conflicti543 – 5431Y → T in AAA52010. (PubMed:1372902)Curated
    Sequence conflicti681 – 6822GA → WS in AAA52010. (PubMed:1372902)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti32 – 321R → Q.1 Publication
    Corresponds to variant rs76537883 [ dbSNP | Ensembl ].
    VAR_009295
    Natural varianti118 – 1181D → N.1 Publication
    Corresponds to variant rs28642966 [ dbSNP | Ensembl ].
    VAR_009296
    Natural varianti122 – 1221N → D.
    Corresponds to variant rs28642966 [ dbSNP | Ensembl ].
    VAR_047385
    Natural varianti320 – 3201S → F in RP49. 1 Publication
    Corresponds to variant rs62625014 [ dbSNP | Ensembl ].
    VAR_009297

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 11M → MESRSSPRLECSGAISAHCS LHLPDSSDFQLIFVFLVEMG FHHVGQAGLELLISSDLPTS ASQSAGITDM in isoform 2. 1 PublicationVSP_047170

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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_005248106.1. XM_005248049.2. [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. [P29973-1]
    GeneIDi1259.
    KEGGihsa:1259.
    UCSCiuc003gxt.4. human. [P29973-1]

    Polymorphism databases

    DMDMi239938910.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Mutations of the CNGA1 gene

    Retina International's Scientific Newsletter

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS43226.1. [P29973-1 ]
    CCDS47050.1. [P29973-2 ]
    PIRi A42161.
    RefSeqi NP_000078.2. NM_000087.3. [P29973-1 ]
    NP_001136036.1. NM_001142564.1. [P29973-2 ]
    XP_005248106.1. XM_005248049.2. [P29973-1 ]
    UniGenei Hs.1323.

    3D structure databases

    ProteinModelPortali P29973.
    SMRi P29973. Positions 348-596, 623-672.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107659. 1 interaction.
    IntActi P29973. 2 interactions.
    MINTi MINT-7004260.
    STRINGi 9606.ENSP00000384264.

    Chemistry

    ChEMBLi CHEMBL1628476.
    GuidetoPHARMACOLOGYi 394.

    Protein family/group databases

    TCDBi 1.A.1.5.3. the voltage-gated ion channel (vic) superfamily.

    PTM databases

    PhosphoSitei P29973.

    Polymorphism databases

    DMDMi 239938910.

    Proteomic databases

    PaxDbi P29973.
    PRIDEi P29973.

    Protocols and materials databases

    DNASUi 1259.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000358519 ; ENSP00000351320 ; ENSG00000198515 . [P29973-1 ]
    ENST00000402813 ; ENSP00000384264 ; ENSG00000198515 . [P29973-2 ]
    ENST00000420489 ; ENSP00000389881 ; ENSG00000198515 . [P29973-1 ]
    ENST00000514170 ; ENSP00000426862 ; ENSG00000198515 . [P29973-1 ]
    ENST00000544810 ; ENSP00000443401 ; ENSG00000198515 . [P29973-1 ]
    GeneIDi 1259.
    KEGGi hsa:1259.
    UCSCi uc003gxt.4. human. [P29973-1 ]

    Organism-specific databases

    CTDi 1259.
    GeneCardsi GC04M047853.
    GeneReviewsi CNGA1.
    H-InvDB HIX0031530.
    HIX0031590.
    HGNCi HGNC:2148. CNGA1.
    MIMi 123825. gene.
    613756. phenotype.
    neXtProti NX_P29973.
    Orphaneti 791. Retinitis pigmentosa.
    PharmGKBi PA26658.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG300025.
    HOGENOMi HOG000007898.
    HOVERGENi HBG000281.
    InParanoidi P29973.
    KOi K04948.
    OMAi WTMVIAR.
    OrthoDBi EOG771268.
    PhylomeDBi P29973.
    TreeFami TF319048.

    Enzyme and pathway databases

    Reactomei REACT_163919. Inactivation, recovery and regulation of the phototransduction cascade.
    REACT_163932. Activation of the phototransduction cascade.

    Miscellaneous databases

    GeneWikii Cyclic_nucleotide-gated_channel_alpha_1.
    GenomeRNAii 1259.
    NextBioi 35535235.
    PROi P29973.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P29973.
    Bgeei P29973.
    CleanExi HS_CNGA1.
    Genevestigatori P29973.

    Family and domain databases

    Gene3Di 2.60.120.10. 1 hit.
    InterProi IPR018490. cNMP-bd-like.
    IPR018488. cNMP-bd_CS.
    IPR000595. cNMP-bd_dom.
    IPR005821. Ion_trans_dom.
    IPR014710. RmlC-like_jellyroll.
    [Graphical view ]
    Pfami PF00027. cNMP_binding. 1 hit.
    PF00520. Ion_trans. 1 hit.
    [Graphical view ]
    SMARTi SM00100. cNMP. 1 hit.
    [Graphical view ]
    SUPFAMi SSF51206. SSF51206. 1 hit.
    PROSITEi PS00888. CNMP_BINDING_1. 1 hit.
    PS00889. CNMP_BINDING_2. 1 hit.
    PS50042. CNMP_BINDING_3. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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.
      , 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.
      , 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. 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.

    Entry informationi

    Entry nameiCNGA1_HUMAN
    AccessioniPrimary (citable) accession number: P29973
    Secondary accession number(s): A8K7K6
    , J3KPZ2, Q16279, Q16485, Q4W5E3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 1, 1993
    Last sequence update: June 16, 2009
    Last modified: October 1, 2014
    This is version 151 of the entry and version 3 of the sequence. [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. Human chromosome 4
      Human chromosome 4: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3