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Q05586

- NMDZ1_HUMAN

UniProt

Q05586 - NMDZ1_HUMAN

Protein

Glutamate receptor ionotropic, NMDA 1

Gene

GRIN1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 175 (01 Oct 2014)
      Sequence version 1 (01 Jun 1994)
      Previous versions | rss
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    Functioni

    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.By similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei523 – 5231GlycineBy similarity
    Binding sitei688 – 6881GlycineBy similarity
    Binding sitei732 – 7321GlycineBy similarity

    GO - Molecular functioni

    1. calcium channel activity Source: Ensembl
    2. calcium ion binding Source: UniProtKB
    3. calmodulin binding Source: UniProtKB
    4. extracellular-glutamate-gated ion channel activity Source: RefGenome
    5. glutamate binding Source: UniProtKB
    6. glycine binding Source: UniProtKB
    7. neurotransmitter binding Source: BHF-UCL
    8. N-methyl-D-aspartate selective glutamate receptor activity Source: Ensembl
    9. protein binding Source: IntAct
    10. voltage-gated cation channel activity Source: Ensembl

    GO - Biological processi

    1. adult locomotory behavior Source: Ensembl
    2. calcium ion homeostasis Source: UniProtKB
    3. cation transport Source: UniProtKB
    4. cellular calcium ion homeostasis Source: Ensembl
    5. cellular response to manganese ion Source: Ensembl
    6. cerebral cortex development Source: Ensembl
    7. conditioned taste aversion Source: Ensembl
    8. ionotropic glutamate receptor signaling pathway Source: UniProtKB
    9. ion transmembrane transport Source: RefGenome
    10. long-term memory Source: Ensembl
    11. male mating behavior Source: Ensembl
    12. negative regulation of neuron apoptotic process Source: Ensembl
    13. olfactory learning Source: Ensembl
    14. pons maturation Source: Ensembl
    15. positive regulation of apoptotic process Source: Ensembl
    16. positive regulation of excitatory postsynaptic membrane potential Source: BHF-UCL
    17. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    18. prepulse inhibition Source: Ensembl
    19. propylene metabolic process Source: BHF-UCL
    20. protein tetramerization Source: Ensembl
    21. regulation of axonogenesis Source: Ensembl
    22. regulation of dendrite morphogenesis Source: Ensembl
    23. regulation of excitatory postsynaptic membrane potential Source: UniProtKB
    24. regulation of long-term neuronal synaptic plasticity Source: Ensembl
    25. regulation of membrane potential Source: UniProtKB
    26. regulation of respiratory gaseous exchange Source: Ensembl
    27. regulation of synapse assembly Source: Ensembl
    28. respiratory gaseous exchange Source: Ensembl
    29. response to amphetamine Source: Ensembl
    30. response to calcium ion Source: Ensembl
    31. response to ethanol Source: UniProtKB
    32. response to fungicide Source: Ensembl
    33. response to morphine Source: Ensembl
    34. rhythmic process Source: Ensembl
    35. sensory perception of pain Source: Ensembl
    36. social behavior Source: Ensembl
    37. suckling behavior Source: Ensembl
    38. synaptic transmission Source: Reactome
    39. synaptic transmission, glutamatergic Source: RefGenome
    40. visual learning Source: UniProtKB

    Keywords - Molecular functioni

    Ion channel, Ligand-gated ion channel, Receptor

    Keywords - Biological processi

    Ion transport, Transport

    Keywords - Ligandi

    Calcium, Magnesium

    Enzyme and pathway databases

    ReactomeiREACT_20546. Ras activation uopn Ca2+ infux through NMDA receptor.
    REACT_20594. Unblocking of NMDA receptor, glutamate binding and activation.
    REACT_20642. CREB phosphorylation through the activation of CaMKII.
    SignaLinkiQ05586.

    Protein family/group databases

    TCDBi1.A.10.1.6. the glutamate-gated ion channel (gic) family of neurotransmitter receptors.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Glutamate receptor ionotropic, NMDA 1
    Short name:
    GluN1
    Alternative name(s):
    Glutamate [NMDA] receptor subunit zeta-1
    N-methyl-D-aspartate receptor subunit NR1
    Short name:
    NMD-R1
    Gene namesi
    Name:GRIN1
    Synonyms:NMDAR1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:4584. GRIN1.

    Subcellular locationi

    Cell membrane By similarity; Multi-pass membrane protein By similarity. Cell junctionsynapsepostsynaptic cell membrane By similarity. Cell junctionsynapsepostsynaptic cell membranepostsynaptic density By similarity
    Note: Enriched in postsynaptic plasma membrane and postsynaptic densities.By similarity

    GO - Cellular componenti

    1. cell junction Source: UniProtKB-KW
    2. cell surface Source: BHF-UCL
    3. dendrite Source: UniProtKB
    4. dendrite membrane Source: Ensembl
    5. dendritic spine Source: BHF-UCL
    6. endoplasmic reticulum Source: Ensembl
    7. excitatory synapse Source: BHF-UCL
    8. integral component of plasma membrane Source: UniProtKB
    9. neuron projection Source: UniProtKB
    10. N-methyl-D-aspartate selective glutamate receptor complex Source: UniProtKB
    11. plasma membrane Source: Reactome
    12. postsynaptic density Source: UniProtKB
    13. postsynaptic membrane Source: UniProtKB
    14. synapse Source: UniProtKB
    15. synaptic cleft Source: BHF-UCL
    16. synaptic vesicle Source: UniProtKB
    17. terminal bouton Source: BHF-UCL

    Keywords - Cellular componenti

    Cell junction, Cell membrane, Membrane, Postsynaptic cell membrane, Synapse

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti560 – 5601S → 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. 1 Publication
    VAR_066597
    Natural varianti662 – 6621E → 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. 1 Publication
    VAR_066598

    Keywords - Diseasei

    Disease mutation, Mental retardation

    Organism-specific databases

    MIMi614254. phenotype.
    Orphaneti178469. Autosomal dominant nonsyndromic intellectual disability.
    PharmGKBiPA28978.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 1818Sequence AnalysisAdd
    BLAST
    Chaini19 – 938920Glutamate receptor ionotropic, NMDA 1PRO_0000011587Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi61 – 611N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi79 – 79Interchain
    Glycosylationi203 – 2031N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi239 – 2391N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi276 – 2761N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi300 – 3001N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi350 – 3501N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi368 – 3681N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi440 – 4401N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi471 – 4711N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi491 – 4911N-linked (GlcNAc...)Sequence Analysis
    Modified residuei889 – 8891Phosphoserine; by PKC1 Publication
    Modified residuei890 – 8901Phosphoserine; by PKC1 Publication
    Modified residuei896 – 8961Phosphoserine; by PKC1 Publication
    Modified residuei897 – 8971Phosphoserine; by PKC1 Publication

    Post-translational modificationi

    NMDA is probably regulated by C-terminal phosphorylation of an isoform of NR1 by PKC. Dephosphorylated on Ser-897 probably by protein phosphatase 2A (PPP2CB). Its phosphorylated state is influenced by the formation of the NMDAR-PPP2CB complex and the NMDAR channel activity.1 Publication

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Phosphoprotein

    Proteomic databases

    PaxDbiQ05586.
    PRIDEiQ05586.

    PTM databases

    PhosphoSiteiQ05586.

    Miscellaneous databases

    PMAP-CutDBQ5VSF3.

    Expressioni

    Gene expression databases

    ArrayExpressiQ05586.
    BgeeiQ05586.
    CleanExiHS_GRIN1.
    GenevestigatoriQ05586.

    Organism-specific databases

    HPAiCAB006831.

    Interactioni

    Subunit structurei

    Forms heteromeric channel of a zeta subunit (GRIN1), a epsilon subunit (GRIN2A, GRIN2B, GRIN2C or GRIN2D) and a third subunit (GRIN3A or GRIN3B); disulfide-linked. Found in a complex with GRIN2A or GRIN2B, GRIN3A or GRIN3B and PPP2CB. Interacts with DLG4 and MPDZ. Interacts with SNX27 (via PDZ domain); the interaction is required for recycling to the plasma membrane when endocytosed and prevent degradation in lysosomes By similarity. Interacts with LRFN1 and LRFN2 By similarity. Interacts with MYZAP.By similarity1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    Dlg3Q629363EBI-8286218,EBI-349596From a different organism.

    Protein-protein interaction databases

    BioGridi109159. 11 interactions.
    IntActiQ05586. 7 interactions.
    MINTiMINT-1900224.

    Structurei

    Secondary structure

    1
    938
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi600 – 62021
    Helixi877 – 89216

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2HQWX-ray1.90B875-898[»]
    2NR1NMR-A599-621[»]
    3BYAX-ray1.85B875-898[»]
    ProteinModelPortaliQ05586.
    SMRiQ05586. Positions 24-838.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ05586.

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini19 – 559541ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini581 – 63656CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini658 – 812155ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini834 – 938105CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei560 – 58021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei637 – 65721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei813 – 83321HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni516 – 5183Glycine bindingBy similarity

    Sequence similaritiesi

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG282132.
    HOVERGENiHBG052638.
    KOiK05208.
    OMAiWNHVILL.
    OrthoDBiEOG79GT5V.
    PhylomeDBiQ05586.
    TreeFamiTF351405.

    Family and domain databases

    InterProiIPR001828. ANF_lig-bd_rcpt.
    IPR018882. CaM-bd_C0_NMDA_rcpt_NR1.
    IPR019594. Glu_rcpt_Glu/Gly-bd.
    IPR001320. Iontro_glu_rcpt.
    IPR001508. NMDA_rcpt.
    IPR028082. Peripla_BP_I.
    IPR001638. SBP_bac_3.
    [Graphical view]
    PfamiPF01094. ANF_receptor. 1 hit.
    PF10562. CaM_bdg_C0. 1 hit.
    PF00060. Lig_chan. 1 hit.
    PF00497. SBP_bac_3. 1 hit.
    [Graphical view]
    PRINTSiPR00177. NMDARECEPTOR.
    SMARTiSM00918. Lig_chan-Glu_bd. 1 hit.
    SM00079. PBPe. 1 hit.
    [Graphical view]
    SUPFAMiSSF53822. SSF53822. 1 hit.

    Sequences (7)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 7 isoformsi produced by alternative splicing. Align

    Isoform 3 (identifier: Q05586-1) [UniParc]FASTAAdd to Basket

    Also known as: Long, NR1-3

    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

    MSTMRLLTLA LLFSCSVARA ACDPKIVNIG AVLSTRKHEQ MFREAVNQAN    50
    KRHGSWKIQL NATSVTHKPN AIQMALSVCE DLISSQVYAI LVSHPPTPND 100
    HFTPTPVSYT AGFYRIPVLG LTTRMSIYSD KSIHLSFLRT VPPYSHQSSV 150
    WFEMMRVYSW NHIILLVSDD HEGRAAQKRL ETLLEERESK AEKVLQFDPG 200
    TKNVTALLME AKELEARVII LSASEDDAAT VYRAAAMLNM TGSGYVWLVG 250
    EREISGNALR YAPDGILGLQ LINGKNESAH ISDAVGVVAQ AVHELLEKEN 300
    ITDPPRGCVG NTNIWKTGPL FKRVLMSSKY ADGVTGRVEF NEDGDRKFAN 350
    YSIMNLQNRK LVQVGIYNGT HVIPNDRKII WPGGETEKPR GYQMSTRLKI 400
    VTIHQEPFVY VKPTLSDGTC KEEFTVNGDP VKKVICTGPN DTSPGSPRHT 450
    VPQCCYGFCI DLLIKLARTM NFTYEVHLVA DGKFGTQERV NNSNKKEWNG 500
    MMGELLSGQA DMIVAPLTIN NERAQYIEFS KPFKYQGLTI LVKKEIPRST 550
    LDSFMQPFQS TLWLLVGLSV HVVAVMLYLL DRFSPFGRFK VNSEEEEEDA 600
    LTLSSAMWFS WGVLLNSGIG EGAPRSFSAR ILGMVWAGFA MIIVASYTAN 650
    LAAFLVLDRP EERITGINDP RLRNPSDKFI YATVKQSSVD IYFRRQVELS 700
    TMYRHMEKHN YESAAEAIQA VRDNKLHAFI WDSAVLEFEA SQKCDLVTTG 750
    ELFFRSGFGI GMRKDSPWKQ NVSLSILKSH ENGFMEDLDK TWVRYQECDS 800
    RSNAPATLTF ENMAGVFMLV AGGIVAGIFL IFIEIAYKRH KDARRKQMQL 850
    AFAAVNVWRK NLQDRKSGRA EPDPKKKATF RAITSTLASS FKRRRSSKDT 900
    STGGGRGALQ NQKDTVLPRR AIEREEGQLQ LCSRHRES 938
    Length:938
    Mass (Da):105,373
    Last modified:June 1, 1994 - v1
    Checksum:iCDF5402769E530AB
    GO
    Isoform 1 (identifier: Q05586-2) [UniParc]FASTAAdd to Basket

    Also known as: Short, NR1-1

    The sequence of this isoform differs from the canonical sequence as follows:
         864-885: DRKSGRAEPDPKKKATFRAITS → QYHPTDITGPLNLSDPSVSTVV
         886-938: Missing.

    Show »
    Length:885
    Mass (Da):99,315
    Checksum:i28C383037998DA20
    GO
    Isoform 2 (identifier: Q05586-3) [UniParc]FASTAAdd to Basket

    Also known as: Medium, NR1-2

    The sequence of this isoform differs from the canonical sequence as follows:
         864-900: Missing.

    Show »
    Length:901
    Mass (Da):101,209
    Checksum:iE0C37E8C9F686155
    GO
    Isoform 4 (identifier: Q05586-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         901-922: STGGGRGALQNQKDTVLPRRAI → QYHPTDITGPLNLSDPSVSTVV
         923-938: Missing.

    Show »
    Length:922
    Mass (Da):103,479
    Checksum:iF704AD9A244BD78E
    GO
    Isoform 5 (identifier: Q05586-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         190-190: K → KSKKRNYENLDQLSYDNKRGPK

    Show »
    Length:959
    Mass (Da):107,909
    Checksum:iC7F52E8535F521EE
    GO
    Isoform 6 (identifier: Q05586-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         190-190: K → KSKKRNYENLDQLSYDNKRGPK
         901-922: STGGGRGALQNQKDTVLPRRAI → QYHPTDITGPLNLSDPSVSTVV
         923-938: Missing.

    Show »
    Length:943
    Mass (Da):106,015
    Checksum:i20DBA38A2B9E3ED0
    GO
    Isoform 7 (identifier: Q05586-7) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         190-190: K → KSKKRNYENLDQLSYDNKRGPK
         864-938: DRKSGRAEPD...LQLCSRHRES → QYHPTDITGPLNLSDPSVSTVV

    Show »
    Length:906
    Mass (Da):101,851
    Checksum:iB275FBD4126F4F15
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti389 – 3891P → S in AAB25917. (PubMed:7681588)Curated
    Sequence conflicti488 – 4881E → K in AAB59361. (PubMed:8406025)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti540 – 5401I → M.1 Publication
    Corresponds to variant rs3181457 [ dbSNP | Ensembl ].
    VAR_049187
    Natural varianti560 – 5601S → 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. 1 Publication
    VAR_066597
    Natural varianti662 – 6621E → 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. 1 Publication
    VAR_066598
    Natural varianti682 – 6821A → S.1 Publication
    Corresponds to variant rs1126448 [ dbSNP | Ensembl ].
    VAR_069057

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei190 – 1901K → KSKKRNYENLDQLSYDNKRG PK in isoform 5, isoform 6 and isoform 7. 2 PublicationsVSP_011777
    Alternative sequencei864 – 93875DRKSG…RHRES → QYHPTDITGPLNLSDPSVST VV in isoform 7. 1 PublicationVSP_045464Add
    BLAST
    Alternative sequencei864 – 90037Missing in isoform 2. 1 PublicationVSP_000139Add
    BLAST
    Alternative sequencei864 – 88522DRKSG…RAITS → QYHPTDITGPLNLSDPSVST VV in isoform 1. 2 PublicationsVSP_000137Add
    BLAST
    Alternative sequencei886 – 93853Missing in isoform 1. 2 PublicationsVSP_000138Add
    BLAST
    Alternative sequencei901 – 92222STGGG…PRRAI → QYHPTDITGPLNLSDPSVST VV in isoform 4 and isoform 6. 2 PublicationsVSP_011778Add
    BLAST
    Alternative sequencei923 – 93816Missing in isoform 4 and isoform 6. 2 PublicationsVSP_011779Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L13266 mRNA. Translation: AAB59360.1.
    L13267 mRNA. Translation: AAA36198.1.
    L13268 mRNA. Translation: AAB59361.1.
    D13515 mRNA. Translation: BAA02732.1.
    L05666 mRNA. Translation: AAA21180.1.
    AF015730 mRNA. Translation: AAB67723.1.
    AF015731 mRNA. Translation: AAB67724.1.
    Z32772 Genomic DNA. No translation available.
    Z32773 Genomic DNA. No translation available.
    Z32774 Genomic DNA. No translation available.
    AL929554 Genomic DNA. Translation: CAH72874.2.
    AL929554 Genomic DNA. Translation: CAH72875.2.
    AL929554 Genomic DNA. Translation: CAH72876.2.
    AL929554 Genomic DNA. Translation: CAH72879.2.
    U08106 mRNA. Translation: AAA62111.1.
    U08107 mRNA. Translation: AAA62112.1.
    S57708 mRNA. Translation: AAB25917.1.
    CCDSiCCDS43910.1. [Q05586-2]
    CCDS55354.1. [Q05586-6]
    CCDS55355.1. [Q05586-7]
    CCDS7031.1. [Q05586-1]
    CCDS7032.1. [Q05586-3]
    PIRiA46612.
    A47551.
    RefSeqiNP_000823.4. NM_000832.6. [Q05586-2]
    NP_001172019.1. NM_001185090.1. [Q05586-6]
    NP_001172020.1. NM_001185091.1. [Q05586-7]
    NP_015566.1. NM_007327.3. [Q05586-1]
    NP_067544.1. NM_021569.3. [Q05586-3]
    XP_005266128.1. XM_005266071.1. [Q05586-4]
    XP_005266130.1. XM_005266073.2. [Q05586-5]
    UniGeneiHs.558334.

    Genome annotation databases

    EnsembliENST00000371546; ENSP00000360601; ENSG00000176884. [Q05586-5]
    ENST00000371550; ENSP00000360605; ENSG00000176884. [Q05586-3]
    ENST00000371553; ENSP00000360608; ENSG00000176884. [Q05586-6]
    ENST00000371559; ENSP00000360614; ENSG00000176884. [Q05586-2]
    ENST00000371560; ENSP00000360615; ENSG00000176884. [Q05586-7]
    ENST00000371561; ENSP00000360616; ENSG00000176884. [Q05586-1]
    GeneIDi2902.
    KEGGihsa:2902.
    UCSCiuc004clk.3. human. [Q05586-1]
    uc004cll.3. human. [Q05586-3]
    uc004clm.3. human. [Q05586-2]

    Polymorphism databases

    DMDMi548377.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Wikipedia

    NMDA receptor entry

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L13266 mRNA. Translation: AAB59360.1 .
    L13267 mRNA. Translation: AAA36198.1 .
    L13268 mRNA. Translation: AAB59361.1 .
    D13515 mRNA. Translation: BAA02732.1 .
    L05666 mRNA. Translation: AAA21180.1 .
    AF015730 mRNA. Translation: AAB67723.1 .
    AF015731 mRNA. Translation: AAB67724.1 .
    Z32772 Genomic DNA. No translation available.
    Z32773 Genomic DNA. No translation available.
    Z32774 Genomic DNA. No translation available.
    AL929554 Genomic DNA. Translation: CAH72874.2 .
    AL929554 Genomic DNA. Translation: CAH72875.2 .
    AL929554 Genomic DNA. Translation: CAH72876.2 .
    AL929554 Genomic DNA. Translation: CAH72879.2 .
    U08106 mRNA. Translation: AAA62111.1 .
    U08107 mRNA. Translation: AAA62112.1 .
    S57708 mRNA. Translation: AAB25917.1 .
    CCDSi CCDS43910.1. [Q05586-2 ]
    CCDS55354.1. [Q05586-6 ]
    CCDS55355.1. [Q05586-7 ]
    CCDS7031.1. [Q05586-1 ]
    CCDS7032.1. [Q05586-3 ]
    PIRi A46612.
    A47551.
    RefSeqi NP_000823.4. NM_000832.6. [Q05586-2 ]
    NP_001172019.1. NM_001185090.1. [Q05586-6 ]
    NP_001172020.1. NM_001185091.1. [Q05586-7 ]
    NP_015566.1. NM_007327.3. [Q05586-1 ]
    NP_067544.1. NM_021569.3. [Q05586-3 ]
    XP_005266128.1. XM_005266071.1. [Q05586-4 ]
    XP_005266130.1. XM_005266073.2. [Q05586-5 ]
    UniGenei Hs.558334.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2HQW X-ray 1.90 B 875-898 [» ]
    2NR1 NMR - A 599-621 [» ]
    3BYA X-ray 1.85 B 875-898 [» ]
    ProteinModelPortali Q05586.
    SMRi Q05586. Positions 24-838.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109159. 11 interactions.
    IntActi Q05586. 7 interactions.
    MINTi MINT-1900224.

    Chemistry

    BindingDBi Q05586.
    ChEMBLi CHEMBL2015.
    DrugBanki DB00142. L-Glutamic Acid.
    DB01173. Orphenadrine.
    GuidetoPHARMACOLOGYi 455.

    Protein family/group databases

    TCDBi 1.A.10.1.6. the glutamate-gated ion channel (gic) family of neurotransmitter receptors.

    PTM databases

    PhosphoSitei Q05586.

    Polymorphism databases

    DMDMi 548377.

    Proteomic databases

    PaxDbi Q05586.
    PRIDEi Q05586.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000371546 ; ENSP00000360601 ; ENSG00000176884 . [Q05586-5 ]
    ENST00000371550 ; ENSP00000360605 ; ENSG00000176884 . [Q05586-3 ]
    ENST00000371553 ; ENSP00000360608 ; ENSG00000176884 . [Q05586-6 ]
    ENST00000371559 ; ENSP00000360614 ; ENSG00000176884 . [Q05586-2 ]
    ENST00000371560 ; ENSP00000360615 ; ENSG00000176884 . [Q05586-7 ]
    ENST00000371561 ; ENSP00000360616 ; ENSG00000176884 . [Q05586-1 ]
    GeneIDi 2902.
    KEGGi hsa:2902.
    UCSCi uc004clk.3. human. [Q05586-1 ]
    uc004cll.3. human. [Q05586-3 ]
    uc004clm.3. human. [Q05586-2 ]

    Organism-specific databases

    CTDi 2902.
    GeneCardsi GC09P140032.
    HGNCi HGNC:4584. GRIN1.
    HPAi CAB006831.
    MIMi 138249. gene.
    614254. phenotype.
    neXtProti NX_Q05586.
    Orphaneti 178469. Autosomal dominant nonsyndromic intellectual disability.
    PharmGKBi PA28978.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG282132.
    HOVERGENi HBG052638.
    KOi K05208.
    OMAi WNHVILL.
    OrthoDBi EOG79GT5V.
    PhylomeDBi Q05586.
    TreeFami TF351405.

    Enzyme and pathway databases

    Reactomei REACT_20546. Ras activation uopn Ca2+ infux through NMDA receptor.
    REACT_20594. Unblocking of NMDA receptor, glutamate binding and activation.
    REACT_20642. CREB phosphorylation through the activation of CaMKII.
    SignaLinki Q05586.

    Miscellaneous databases

    ChiTaRSi GRIN1. human.
    EvolutionaryTracei Q05586.
    GeneWikii GRIN1.
    GenomeRNAii 2902.
    NextBioi 11487.
    PMAP-CutDB Q5VSF3.
    PROi Q05586.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q05586.
    Bgeei Q05586.
    CleanExi HS_GRIN1.
    Genevestigatori Q05586.

    Family and domain databases

    InterProi IPR001828. ANF_lig-bd_rcpt.
    IPR018882. CaM-bd_C0_NMDA_rcpt_NR1.
    IPR019594. Glu_rcpt_Glu/Gly-bd.
    IPR001320. Iontro_glu_rcpt.
    IPR001508. NMDA_rcpt.
    IPR028082. Peripla_BP_I.
    IPR001638. SBP_bac_3.
    [Graphical view ]
    Pfami PF01094. ANF_receptor. 1 hit.
    PF10562. CaM_bdg_C0. 1 hit.
    PF00060. Lig_chan. 1 hit.
    PF00497. SBP_bac_3. 1 hit.
    [Graphical view ]
    PRINTSi PR00177. NMDARECEPTOR.
    SMARTi SM00918. Lig_chan-Glu_bd. 1 hit.
    SM00079. PBPe. 1 hit.
    [Graphical view ]
    SUPFAMi SSF53822. SSF53822. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and sequence analysis of cDNAs encoding human hippocampus N-methyl-D-aspartate receptor subunits: evidence for alternative RNA splicing."
      Foldes R.L., Rampersad V., Kamboj R.K.
      Gene 131:293-298(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [MRNA] OF 11-938 (ISOFORM 3), NUCLEOTIDE SEQUENCE [MRNA] OF 300-938 (ISOFORM 2).
      Tissue: Brain.
    2. "Molecular cloning and chromosomal localization of the key subunit of the human N-methyl-D-aspartate receptor."
      Karp S.J., Masu M., Eki T., Ozawa K., Nakanishi S.
      J. Biol. Chem. 268:3728-3733(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
    3. "Molecular cloning, functional expression, and pharmacological characterization of an N-methyl-D-aspartate receptor subunit from human brain."
      Planells-Cases R., Sun W., Ferrer-Montiel A.V., Montal M.
      Proc. Natl. Acad. Sci. U.S.A. 90:5057-5061(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Brain.
    4. "Cloning and structure of the gene encoding the human N-methyl-D-aspartate receptor (NMDAR1)."
      Zimmer M., Fink T.M., Franke Y., Lichter P., Spiess J.
      Gene 159:219-223(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    5. "Cloning and localization of exon 5-containing isoforms of the NMDAR1 subunit in human and rat brains."
      Nash N.R., Heilman C.J., Rees H.D., Levey A.I.
      J. Neurochem. 69:485-493(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 6 AND 7), VARIANTS MET-540 AND SER-682.
    6. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "Cloning and sequence analysis of additional splice variants encoding human N-methyl-D-aspartate receptor (hNR1) subunits."
      Foldes R.L., Rampersad V., Kamboj R.K.
      Gene 147:303-304(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 332-922 (ISOFORM 4), NUCLEOTIDE SEQUENCE [MRNA] OF 86-259 (ISOFORM 5).
      Tissue: Cerebellum and Hippocampus.
    8. "Inducible expression of neuronal glutamate receptor channels in the NT2 human cell line."
      Younkin D.P., Tang C.-M., Hardy M., Reddy U.R., Shi Q.-Y., Pleasure S.J., Lee V.M.-Y., Pleasure D.
      Proc. Natl. Acad. Sci. U.S.A. 90:2174-2178(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 364-464 (ISOFORMS 1/2/3).
    9. "Regulation of NMDA receptor phosphorylation by alternative splicing of the C-terminal domain."
      Tingley W.G., Roche K.W., Thompson A.K., Huganir R.L.
      Nature 364:70-73(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION BY PKC.
    10. "Appropriate NR1-NR1 disulfide-linked homodimer formation is requisite for efficient expression of functional, cell surface N-methyl-D-aspartate NR1/NR2 receptors."
      Papadakis M., Hawkins L.M., Stephenson F.A.
      J. Biol. Chem. 279:14703-14712(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERCHAIN DISULFIDE BOND.
    11. "GRINL1A colocalizes with N-methyl D-aspartate receptor NR1 subunit and reduces N-methyl D-aspartate toxicity."
      Roginski R.S., Goubaeva F., Mikami M., Fried-Cassorla E., Nair M.R., Yang J.
      NeuroReport 19:1721-1726(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH MYZAP.
    12. "Structures of the M2 channel-lining segments from nicotinic acetylcholine and NMDA receptors by NMR spectroscopy."
      Opella S.J., Marassi F.M., Gesell J.J., Valente A.P., Kim Y., Oblatt-Montal M., Montal M.
      Nat. Struct. Biol. 6:374-379(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: STRUCTURE BY NMR OF 599-621.
    13. Cited for: VARIANTS MRD8 SER-560 INS AND LYS-662, CHARACTERIZATION OF VARIANTS MRD8 SER-560 INS AND LYS-662.

    Entry informationi

    Entry nameiNMDZ1_HUMAN
    AccessioniPrimary (citable) accession number: Q05586
    Secondary accession number(s): A6NLK7
    , A6NLR1, C9K0X1, P35437, Q12867, Q12868, Q5VSF3, Q5VSF4, Q5VSF5, Q5VSF6, Q5VSF7, Q5VSF8, Q9UPF8, Q9UPF9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 1, 1994
    Last sequence update: June 1, 1994
    Last modified: October 1, 2014
    This is version 175 of the entry and version 1 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 9
      Human chromosome 9: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3