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Description for Protein CNGB1

cyclic nucleotide gated channel beta 1
3 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
In humans, the rod photoreceptor cGMP-gated cation channel helps regulate ion flow into the rod photoreceptor outer segment in response to light-induced alteration of the levels of intracellular cGMP. This channel consists of two subunits, alpha and beta, with the protein encoded by this gene representing the beta subunit. Defects in this gene are a cause of cause of retinitis pigmentosa type 45. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • CC: Coiled Coil
  • CNMP: Cyclic nucleotide-monophosphate binding domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K04952
    KEGG - Pathway(s):
    hsa04740; hsa04744
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Cyclic nucleotide gated channel photoreceptor, cGMP gated 2; CNCG2; Cyclic nucleotide gated channel photoreceptor, cGMP gated 3 like; CNCG3L; Glutamic acid rich protein 1; GAR1; GARP; RCNC2; RCNCb; RCNC beta
    Approved Symbol:
    CNGB1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Retinitis pigmentosa, autosomal recessive(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 07204 Entrez Gene ID: 1258 OMIM ID: 600724 Swissprot Accession: Q14028;