RBCC Red Blood Cell Collection

NMDZ1_HUMAN

Source: PM19886704
PM23856902
Marked as 'Integral membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: GRIN1 , NMDAR1
Protein names and data: NMDZ1_HUMAN , Glutamate receptor ionotropic, NMDA 1; GluN1 , Glutamate [NMDA] receptor subunit zeta-1; N-methyl-D-aspartate receptor subunit NR1; NMD-R1; Flags: Precursor Lenght: 938 a.a.
Mass: 105373 Da
fasta formatted sequence
Function: NMDA receptor subtype of glutamate-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Mediated by glycine. This protein plays a key role in synaptic plasticity, synaptogenesis, excitotoxicity, memory acquisition and learning. It mediates neuronal functions in glutamate neurotransmission. Is involved in the cell surface targeting of NMDA receptors (By similarity).
Disease: ( OMIM: 138249 614254 ) Mental retardation, autosomal dominant 8 (MRD8) [MIM:614254]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cell membrane; Multi-pass membrane protein (By similarity). Cell junction, synapse, postsynaptic cell membrane (By similarity). Cell junction, synapse, postsynaptic cell membrane, postsynaptic density (By similarity). Note=Enriched in postsynaptic plasma membrane and postsynaptic densities (By similarity).

Genetic variants

540 - 540 I -> M (in dbSNP:rs3181457). VAR_049187 3181457
560 - 560 S -> SS (in MRD8; there is near abolition of the activity of the NMDA receptor in Xenopus oocytes; alters the 3-dimensional structure at the receptor's channel pore entrance). VAR_066597
662 - 662 E -> K (in MRD8; this mutation produces a significant increase in NMDA receptor- induced calcium currents; excessive calcium influx through NMDA receptor could lead to excitotoxic neuronal cell damage). VAR_066598
682 - 682 A -> S (in dbSNP:rs1126448). VAR_069057 1126448

Database cross-references

UniProt: Q05586
Ensembl: ENST00000315048
Ensembl: ENST00000371546
Ensembl: ENST00000371550
Ensembl: ENST00000371553
Ensembl: ENST00000371559
Ensembl: ENST00000371560
Ensembl: ENST00000371561
MIM: 138249
MIM: 614254
neXtProt: NX_Q05586
Antibodypedia: Q05586 (may not find the protein thus also not any antibody)
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