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Results for the Protein: Q05586
548377

NMDZ1_HUMAN RecName: Full=Glutamate receptor ionotropic, NMDA 1; Short=GluN1; AltName: Full=Glutamate [NMDA] receptor subunit zeta-1; AltName: Full=N-methyl-D-aspartate receptor subunit NR1; Short=NMD-R1; Flags: Precursor

Known Diseases associated with this Protein:
  MENTAL RETARDATION, AUTOSOMAL DOMINANT 8
  MENTAL RETARDATION, AUTOSOMAL DOMINANT 8 (MRD8)
2
2
1
0
3
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Default View:

PBP1_GPCR_family_C_l - cd06350
PBP1_iGluR_NMDA_NR1 - cd06379
PBP1_iGluR_NMDA_NR2 - cd06378
PBP1_iGluR_NMDA - cd06367
PBP1_NPR_GC_like - cd06352
PBP1_mGluR - cd06362
PBP1_iGluR_non_NMDA_ - cd06368
PBP1_iGluR_AMPA - cd06380
PBP1_NPR_like - cd06373
PBP1_iGluR_Kainate - cd06382
PBP1_iGluR_AMPA_GluR - cd06390
PBP1_GABAb_receptor - cd06366
Periplasmic_Binding_ - cd01391
PBP1_ABC_transporter - cd04509
PBP1_glutamate_recep - cd06269
PBP1_iGluR_N_LIVBP_l - cd06351
PBP1_Taste_receptor - cd06363
ANF_receptor - pfam01094
SBP_bac_3 - pfam00497
Lig_chan-Glu_bd - pfam10613
Lig_chan - pfam00060
PBPe - smart00079
CaM_bdg_C0 - pfam10562


Swiss-Prot Protein: Q05586
Identical to: NP_015566
   Default View:




















Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PBP1_GPCR_family_C_lcd063502.6e-108376
PBP1_iGluR_NMDA_NR1cd063793e-2688383
PBP1_iGluR_NMDAcd063671e-14525382
PBP1_iGluR_NMDA_NR2cd063785.1e-0925383
PBP1_NPR_GC_likecd063522.9e-0726382
PBP1_mGluRcd063622e-0627375
Periplasmic_Binding_cd013912.7e-2228353
PBP1_ABC_transportercd045099e-4428354
PBP1_glutamate_recepcd062694.8e-5128375
PBP1_iGluR_N_LIVBP_lcd063515.5e-7428375
PBP1_Taste_receptorcd063635.9e-0528382
PBP1_GABAb_receptorcd063663.2e-1028377
PBP1_iGluR_non_NMDA_cd063682e-0828375
PBP1_iGluR_AMPAcd063800.0006128374
PBP1_NPR_likecd063730.00128375
PBP1_iGluR_Kainatecd063824.6e-0928374
PBP1_iGluR_AMPA_GluRcd063900.00128380
ANF_receptorpfam010942.2e-1937357
SBP_bac_3pfam004972.3e-07434795
Lig_chanpfam000602.2e-110559824
Lig_chan-Glu_bdpfam106135.7e-30439507
PBPesmart000791e-57663795
CaM_bdg_C0pfam105627.6e-17835863

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_069057Polymorphismp.ALA682SERN/A
Swiss-ProtVAR_066598Diseasep.GLU662LYSMental retardation, autosomal dominant 8 (MRD8)
Swiss-ProtVAR_049187Polymorphismp.ILE540METN/A
OMIM138249.0001 Diseasep.GLU641LYSMENTAL RETARDATION, AUTOSOMAL DOMINANT 8



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