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  Domain Name: PBP1_GPCR_family_C_l
Ligand-binding domain of membrane-bound glutamate receptors that mediate excitatory transmission on the cellular surface through initial binding of glutamate and are categorized into ionotropic glutamate receptors (iGluRs) and metabotropic glutamate receptors (mGluRs). Ligand-binding domain of membrane-bound glutamate receptors that mediate excitatory transmission on the cellular surface through initial binding of glutamate and are categorized into ionotropic glutamate receptors (iGluRs) and metabotropic glutamate receptors (mGluRs). The metabotropic glutamate receptors (mGluR) are key receptors in the modulation of excitatory synaptic transmission in the central nervous system. The mGluRs are coupled to G proteins and are thus distinct from the iGluRs which internally contain ligand-gated ion channels. The mGluR structure is divided into three regions: the extracellular region, the seven-spanning transmembrane region and the cytoplasmic region. The extracellular region is further devided into the ligand-binding domain (LBD) and the cysteine-rich domain. The LBD has sequence similarity to the LIVBP, which is a bacterial periplasmic protein (PBP), as well as to the extracellular region of both iGluR and the gamma-aminobutyric acid (GABA)b receptor. iGluRs are divided into three main subtypes based on pharmacological profile: NMDA, AMPA, and kainate receptors. All family C GPCRs have a large extracellular N terminus that contain a domain with homology to bacterial periplasmic amino acid-binding proteins.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 101
Total Disease Mutations Found: 37
This domain occurred 35 times on human genes (81 proteins).



  ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
  EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
  EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION (FESD)
  HYPERPARATHYROIDISM, NEONATAL SEVERE
  HYPERPARATHYROIDISM, NEONATAL SEVERE, INCLUDED
  HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
  HYPOCALCEMIA, AUTOSOMAL DOMINANT 1, WITH BARTTER SYNDROME
  HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I
  NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


Feature Name:Total Found:
ligand binding site
dimerization interface



























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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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