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Q14028

- CNGB1_HUMAN

UniProt

Q14028 - CNGB1_HUMAN

Protein

Cyclic nucleotide-gated cation channel beta-1

Gene

CNGB1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 131 (01 Oct 2014)
      Sequence version 2 (01 Sep 2009)
      Previous versions | rss
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    Functioni

    Subunit of cyclic nucleotide-gated (CNG) channels, nonselective cation channels, which play important roles in both visual and olfactory signal transduction. When associated with CNGA1, it is involved in the regulation of ion flow into the rod photoreceptor outer segment (ROS), in response to light-induced alteration of the levels of intracellular cGMP.
    Isoform GARP2 is a high affinity rod photoreceptor phosphodiesterase (PDE6)-binding protein that modulates its catalytic properties: it is a regulator of spontaneous activation of rod PDE6, thereby serving to lower rod photoreceptor 'dark noise' and allowing these sensory cells to operate at the single photon detection limit.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei1030 – 10301cAMPSequence Analysis
    Binding sitei1042 – 10421cAMPSequence Analysis

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi970 – 1109140cAMPBy similarityAdd
    BLAST

    GO - Molecular functioni

    1. cAMP binding Source: UniProtKB-KW
    2. cGMP binding Source: UniProt
    3. intracellular cAMP activated cation channel activity Source: Ensembl
    4. intracellular cGMP activated cation channel activity Source: UniProt
    5. ligand-gated ion channel activity Source: ProtInc
    6. protein binding Source: IntAct
    7. voltage-gated potassium channel activity Source: RefGenome

    GO - Biological processi

    1. cation transport Source: UniProt
    2. cytosolic calcium ion homeostasis Source: Ensembl
    3. detection of light stimulus involved in visual perception Source: UniProt
    4. phototransduction, visible light Source: Reactome
    5. potassium ion transmembrane transport Source: RefGenome
    6. protein heterotetramerization Source: Ensembl
    7. regulation of membrane potential Source: RefGenome
    8. regulation of rhodopsin mediated signaling pathway Source: Reactome
    9. retina homeostasis Source: UniProt
    10. rhodopsin mediated signaling pathway Source: Reactome
    11. sensory perception of smell Source: UniProtKB-KW
    12. transport Source: ProtInc
    13. visual perception Source: ProtInc

    Keywords - Molecular functioni

    Ion channel, Ligand-gated ion channel

    Keywords - Biological processi

    Ion transport, Olfaction, Sensory transduction, Transport, Vision

    Keywords - Ligandi

    cAMP, cAMP-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:
    Cyclic nucleotide-gated cation channel beta-1
    Alternative name(s):
    Cyclic nucleotide-gated cation channel 4
    Short name:
    CNG channel 4
    Short name:
    CNG-4
    Short name:
    CNG4
    Cyclic nucleotide-gated cation channel gamma
    Cyclic nucleotide-gated cation channel modulatory subunit
    Cyclic nucleotide-gated channel beta-1
    Short name:
    CNG channel beta-1
    Glutamic acid-rich protein
    Short name:
    GARP
    Gene namesi
    Name:CNGB1
    Synonyms:CNCG2, CNCG3L, CNCG4, RCNC2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:2151. CNGB1.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of plasma membrane Source: RefGenome
    2. intracellular cyclic nucleotide activated cation channel complex Source: Ensembl
    3. plasma membrane Source: Reactome
    4. terminal bouton Source: Ensembl
    5. transmembrane transporter complex Source: UniProt

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Retinitis pigmentosa 45 (RP45) [MIM:613767]: 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti993 – 9931G → V in RP45. 1 Publication
    VAR_060491

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi568 – 5681L → E: Loss of calcium/calmodulin modulation. 1 Publication

    Keywords - Diseasei

    Disease mutation, Retinitis pigmentosa

    Organism-specific databases

    MIMi613767. phenotype.
    Orphaneti791. Retinitis pigmentosa.
    PharmGKBiPA26662.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 12511251Cyclic nucleotide-gated cation channel beta-1PRO_0000219323Add
    BLAST

    Proteomic databases

    PaxDbiQ14028.
    PRIDEiQ14028.

    PTM databases

    PhosphoSiteiQ14028.

    Expressioni

    Gene expression databases

    ArrayExpressiQ14028.
    BgeeiQ14028.
    CleanExiHS_CNGB1.
    GenevestigatoriQ14028.

    Organism-specific databases

    HPAiHPA039159.

    Interactioni

    Subunit structurei

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

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    GRB14Q5ICW42EBI-7959609,EBI-7639273From a different organism.

    Protein-protein interaction databases

    BioGridi107658. 3 interactions.
    IntActiQ14028. 2 interactions.
    MINTiMINT-4853474.
    STRINGi9606.ENSP00000251102.

    Structurei

    3D structure databases

    ProteinModelPortaliQ14028.
    SMRiQ14028. Positions 793-882, 893-1070.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini343 – 656314CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini676 – 68914ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini709 – 73325CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini754 – 79037ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini814 – 85744CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini878 – 96184ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini983 – 1251269CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei657 – 67519Helical; Name=H1Sequence AnalysisAdd
    BLAST
    Transmembranei690 – 70819Helical; Name=H2Sequence AnalysisAdd
    BLAST
    Transmembranei734 – 75320Helical; Name=H3Sequence AnalysisAdd
    BLAST
    Transmembranei791 – 81323Helical; Name=H4Sequence AnalysisAdd
    BLAST
    Transmembranei858 – 87720Helical; Name=H5Sequence AnalysisAdd
    BLAST
    Transmembranei962 – 98221Helical; Name=H6Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi568 – 57811IQ-likeAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi23 – 6341Glu-richAdd
    BLAST
    Compositional biasi171 – 25282Pro-richAdd
    BLAST
    Compositional biasi351 – 37121Poly-GluAdd
    BLAST

    Sequence similaritiesi

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

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG289446.
    HOGENOMiHOG000231425.
    HOVERGENiHBG051038.
    InParanoidiQ14028.
    KOiK04952.
    OMAiDTDADSC.
    PhylomeDBiQ14028.
    TreeFamiTF318250.

    Family and domain databases

    Gene3Di2.60.120.10. 1 hit.
    InterProiIPR018490. cNMP-bd-like.
    IPR018488. cNMP-bd_CS.
    IPR000595. cNMP-bd_dom.
    IPR014710. RmlC-like_jellyroll.
    [Graphical view]
    PfamiPF00027. cNMP_binding. 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 (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Note: There is no evidence for an ortholog to bovine GARP1 in the human genome.

    Isoform RCNC2B (identifier: Q14028-1) [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

    MLGWVQRVLP QPPGTPRKTK MQEEEEVEPE PEMEAEVEPE PNPEEAETES     50
    ESMPPEESFK EEEVAVADPS PQETKEAALT STISLRAQGA EISEMNSPSR 100
    RVLTWLMKGV EKVIPQPVHS ITEDPAQILG HGSTGDTGCT DEPNEALEAQ 150
    DTRPGLRLLL WLEQNLERVL PQPPKSSEVW RDEPAVATGA ASDPAPPGRP 200
    QEMGPKLQAR ETPSLPTPIP LQPKEEPKEA PAPEPQPGSQ AQTSSLPPTR 250
    DPARLVAWVL HRLEMALPQP VLHGKIGEQE PDSPGICDVQ TISILPGGQV 300
    EPDLVLEEVE PPWEDAHQDV STSPQGTEVV PAYEEENKAV EKMPRELSRI 350
    EEEKEDEEEE EEEEEEEEEE EVTEVLLDSC VVSQVGVGQS EEDGTRPQST 400
    SDQKLWEEVG EEAKKEAEEK AKEEAEEVAE EEAEKEPQDW AETKEEPEAE 450
    AEAASSGVPA TKQHPEVQVE DTDADSCPLM AEENPPSTVL PPPSPAKSDT 500
    LIVPSSASGT HRKKLPSEDD EAEELKALSP AESPVVAWSD PTTPKDTDGQ 550
    DRAASTASTN SAIINDRLQE LVKLFKERTE KVKEKLIDPD VTSDEESPKP 600
    SPAKKAPEPA PDTKPAEAEP VEEEHYCDML CCKFKHRPWK KYQFPQSIDP 650
    LTNLMYVLWL FFVVMAWNWN CWLIPVRWAF PYQTPDNIHH WLLMDYLCDL 700
    IYFLDITVFQ TRLQFVRGGD IITDKKDMRN NYLKSRRFKM DLLSLLPLDF 750
    LYLKVGVNPL LRLPRCLKYM AFFEFNSRLE SILSKAYVYR VIRTTAYLLY 800
    SLHLNSCLYY WASAYQGLGS THWVYDGVGN SYIRCYYFAV KTLITIGGLP 850
    DPKTLFEIVF QLLNYFTGVF AFSVMIGQMR DVVGAATAGQ TYYRSCMDST 900
    VKYMNFYKIP KSVQNRVKTW YEYTWHSQGM LDESELMVQL PDKMRLDLAI 950
    DVNYNIVSKV ALFQGCDRQM IFDMLKRLRS VVYLPNDYVC KKGEIGREMY 1000
    IIQAGQVQVL GGPDGKSVLV TLKAGSVFGE ISLLAVGGGN RRTANVVAHG 1050
    FTNLFILDKK DLNEILVHYP ESQKLLRKKA RRMLRSNNKP KEEKSVLILP 1100
    PRAGTPKLFN AALAMTGKMG GKGAKGGKLA HLRARLKELA ALEAAAKQQE 1150
    LVEQAKSSQD VKGEEGSAAP DQHTHPKEAA TDPPAPRTPP EPPGSPPSSP 1200
    PPASLGRPEG EEEGPAEPEE HSVRICMSPG PEPGEQILSV KMPEEREEKA 1250
    E 1251
    Length:1,251
    Mass (Da):139,678
    Last modified:September 1, 2009 - v2
    Checksum:i7A45CB399EB2B20C
    GO
    Isoform RCNC2A (identifier: Q14028-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-628: Missing.

    Show »
    Length:623
    Mass (Da):70,901
    Checksum:i19FD335A37A9BD8A
    GO
    Isoform GARP2 (identifier: Q14028-3) [UniParc]FASTAAdd to Basket

    Also known as: GARP

    The sequence of this isoform differs from the canonical sequence as follows:
         292-299: ISILPGGQ → RVMGAGGL
         300-1251: Missing.

    Note: In the rod cells, the CNGB1 locus encodes the cyclic nucleotide-gated cation channel beta-1 subunit and several glutamic-acid-rich proteins (GARPs).

    Show »
    Length:299
    Mass (Da):32,531
    Checksum:i1B07296CA8ECB655
    GO
    Isoform 4 (identifier: Q14028-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         189-194: Missing.

    Show »
    Length:1,245
    Mass (Da):139,179
    Checksum:iE99F22376984493D
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti128 – 1281I → V in AC010543. (PubMed:15616553)Curated
    Sequence conflicti1148 – 11492QQ → HE in AAB63387. (PubMed:7590744)Curated
    Sequence conflicti1148 – 11492QQ → HE in AAA65619. (PubMed:7682292)Curated
    Sequence conflicti1148 – 11492QQ → HE in AAA65620. (PubMed:7682292)Curated
    Sequence conflicti1207 – 12082RP → SC in AAB63387. (PubMed:7590744)Curated
    Sequence conflicti1207 – 12082RP → SC in AAA65619. (PubMed:7682292)Curated
    Sequence conflicti1207 – 12082RP → SC in AAA65620. (PubMed:7682292)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti100 – 1001R → H.3 Publications
    Corresponds to variant rs13336595 [ dbSNP | Ensembl ].
    VAR_058691
    Natural varianti479 – 4791L → I.
    Corresponds to variant rs2303783 [ dbSNP | Ensembl ].
    VAR_059225
    Natural varianti535 – 5351V → A.
    Corresponds to variant rs12927214 [ dbSNP | Ensembl ].
    VAR_059226
    Natural varianti731 – 7311N → K.
    Corresponds to variant rs376270 [ dbSNP | Ensembl ].
    VAR_059227
    Natural varianti745 – 7451L → I.
    Corresponds to variant rs10459809 [ dbSNP | Ensembl ].
    VAR_059228
    Natural varianti911 – 9111K → R.
    Corresponds to variant rs2303785 [ dbSNP | Ensembl ].
    VAR_059229
    Natural varianti961 – 9611A → S.
    Corresponds to variant rs16942445 [ dbSNP | Ensembl ].
    VAR_059230
    Natural varianti993 – 9931G → V in RP45. 1 Publication
    VAR_060491

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 628628Missing in isoform RCNC2A. CuratedVSP_001110Add
    BLAST
    Alternative sequencei189 – 1946Missing in isoform 4. CuratedVSP_053421
    Alternative sequencei292 – 2998ISILPGGQ → RVMGAGGL in isoform GARP2. 1 PublicationVSP_037921
    Alternative sequencei300 – 1251952Missing in isoform GARP2. 1 PublicationVSP_037922Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L15296 Genomic DNA. Translation: AAA65620.1.
    L15297 Genomic DNA. Translation: AAA65619.1.
    U18945 mRNA. Translation: AAA91633.1.
    U58837 mRNA. Translation: AAB63387.1.
    AF042498 mRNA. Translation: AAC04830.1.
    AC010543 Genomic DNA. No translation available.
    CH471092 Genomic DNA. Translation: EAW82957.1.
    CCDSiCCDS42169.1. [Q14028-1]
    CCDS45495.1. [Q14028-3]
    CCDS67042.1. [Q14028-4]
    PIRiA57652.
    S32538.
    S69275.
    RefSeqiNP_001129111.1. NM_001135639.1. [Q14028-3]
    NP_001273059.1. NM_001286130.1. [Q14028-4]
    NP_001288.3. NM_001297.4. [Q14028-1]
    XP_006721197.1. XM_006721134.1. [Q14028-1]
    UniGeneiHs.147062.

    Genome annotation databases

    EnsembliENST00000251102; ENSP00000251102; ENSG00000070729. [Q14028-1]
    ENST00000311183; ENSP00000311670; ENSG00000070729. [Q14028-3]
    ENST00000564448; ENSP00000454633; ENSG00000070729. [Q14028-4]
    GeneIDi1258.
    KEGGihsa:1258.
    UCSCiuc002emt.2. human. [Q14028-1]
    uc002emu.2. human. [Q14028-3]
    uc010cdh.2. human.

    Polymorphism databases

    DMDMi257051004.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L15296 Genomic DNA. Translation: AAA65620.1 .
    L15297 Genomic DNA. Translation: AAA65619.1 .
    U18945 mRNA. Translation: AAA91633.1 .
    U58837 mRNA. Translation: AAB63387.1 .
    AF042498 mRNA. Translation: AAC04830.1 .
    AC010543 Genomic DNA. No translation available.
    CH471092 Genomic DNA. Translation: EAW82957.1 .
    CCDSi CCDS42169.1. [Q14028-1 ]
    CCDS45495.1. [Q14028-3 ]
    CCDS67042.1. [Q14028-4 ]
    PIRi A57652.
    S32538.
    S69275.
    RefSeqi NP_001129111.1. NM_001135639.1. [Q14028-3 ]
    NP_001273059.1. NM_001286130.1. [Q14028-4 ]
    NP_001288.3. NM_001297.4. [Q14028-1 ]
    XP_006721197.1. XM_006721134.1. [Q14028-1 ]
    UniGenei Hs.147062.

    3D structure databases

    ProteinModelPortali Q14028.
    SMRi Q14028. Positions 793-882, 893-1070.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107658. 3 interactions.
    IntActi Q14028. 2 interactions.
    MINTi MINT-4853474.
    STRINGi 9606.ENSP00000251102.

    Protein family/group databases

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

    PTM databases

    PhosphoSitei Q14028.

    Polymorphism databases

    DMDMi 257051004.

    Proteomic databases

    PaxDbi Q14028.
    PRIDEi Q14028.

    Protocols and materials databases

    DNASUi 1258.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000251102 ; ENSP00000251102 ; ENSG00000070729 . [Q14028-1 ]
    ENST00000311183 ; ENSP00000311670 ; ENSG00000070729 . [Q14028-3 ]
    ENST00000564448 ; ENSP00000454633 ; ENSG00000070729 . [Q14028-4 ]
    GeneIDi 1258.
    KEGGi hsa:1258.
    UCSCi uc002emt.2. human. [Q14028-1 ]
    uc002emu.2. human. [Q14028-3 ]
    uc010cdh.2. human.

    Organism-specific databases

    CTDi 1258.
    GeneCardsi GC16M058001.
    GeneReviewsi CNGB1.
    H-InvDB HIX0038536.
    HGNCi HGNC:2151. CNGB1.
    HPAi HPA039159.
    MIMi 600724. gene.
    613767. phenotype.
    neXtProti NX_Q14028.
    Orphaneti 791. Retinitis pigmentosa.
    PharmGKBi PA26662.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG289446.
    HOGENOMi HOG000231425.
    HOVERGENi HBG051038.
    InParanoidi Q14028.
    KOi K04952.
    OMAi DTDADSC.
    PhylomeDBi Q14028.
    TreeFami TF318250.

    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 CNGB1.
    GenomeRNAii 1258.
    NextBioi 35525694.
    PROi Q14028.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q14028.
    Bgeei Q14028.
    CleanExi HS_CNGB1.
    Genevestigatori Q14028.

    Family and domain databases

    Gene3Di 2.60.120.10. 1 hit.
    InterProi IPR018490. cNMP-bd-like.
    IPR018488. cNMP-bd_CS.
    IPR000595. cNMP-bd_dom.
    IPR014710. RmlC-like_jellyroll.
    [Graphical view ]
    Pfami PF00027. cNMP_binding. 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. "A new subunit of the cyclic nucleotide-gated cation channel in retinal rods."
      Chen T.-Y., Peng Y.-W., Dhallan R.S., Ahamed B., Reed R.R., Yau K.-W.
      Nature 362:764-767(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS RCNC2A AND RCNC2B).
      Tissue: Retina.
    2. "cDNA, gene structure, and chromosomal localization of human GAR1 (CNCG3L), a homolog of the third subunit of bovine photoreceptor cGMP-gated channel."
      Ardell M.D., Makhija A.K., Oliveira L., Miniou P., Viegas-Pequignot E., Pittler S.J.
      Genomics 28:32-38(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM GARP2), VARIANT HIS-100.
      Tissue: Retina.
    3. "The beta subunit of human rod photoreceptor cGMP-gated cation channel is generated from a complex transcription unit."
      Ardell M.D., Aragon I., Oliveira L., Porche G.E., Burke E., Pittler S.J.
      FEBS Lett. 389:213-218(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM RCNC2B), VARIANT HIS-100.
      Tissue: Retina.
    4. "Identification of a domain on the beta-subunit of the rod cGMP-gated cation channel that mediates inhibition by calcium-calmodulin."
      Grunwald M.E., Yu W.P., Yu H.H., Yau K.W.
      J. Biol. Chem. 273:9148-9157(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM RCNC2B), FUNCTION, VARIANT HIS-100.
      Tissue: Retina.
    5. "The sequence and analysis of duplication-rich human chromosome 16."
      Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
      , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
      Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "Genomic organization of the human rod photoreceptor cGMP-gated cation channel beta-subunit gene."
      Ardell M.D., Bedsole D.L., Schoborg R.V., Pittler S.J.
      Gene 245:311-318(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: ALTERNATIVE SPLICING.
    8. "Calmodulin permanently associates with rat olfactory CNG channels under native conditions."
      Bradley J., Boenigk W., Yau K.-W., Frings S.
      Nat. Neurosci. 7:705-710(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: MUTAGENESIS OF LEU-568.
    9. "The glutamic acid-rich protein-2 (GARP2) is a high affinity rod photoreceptor phosphodiesterase (PDE6)-binding protein that modulates its catalytic properties."
      Pentia D.C., Hosier S., Cote R.H.
      J. Biol. Chem. 281:5500-5505(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: ALTERNATIVE SPLICING (ISOFORM GARP2), FUNCTION.
    10. Cited for: CHARACTERIZATION OF THE GARPS PROTEINS.
    11. Cote R.H.
      Unpublished observations (MAY-2009)
      Cited for: ALTERNATIVE SPLICING (ISOFORM GARP2).
    12. "Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa."
      Bareil C., Hamel C.P., Delague V., Arnaud B., Demaille J., Claustres M.
      Hum. Genet. 108:328-334(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT RP45 VAL-993.

    Entry informationi

    Entry nameiCNGB1_HUMAN
    AccessioniPrimary (citable) accession number: Q14028
    Secondary accession number(s): H3BN09
    , O43636, Q13059, Q14029, Q9UMG2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: September 1, 2009
    Last modified: October 1, 2014
    This is version 131 of the entry and version 2 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 16
      Human chromosome 16: 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