Q05586 (NMDZ1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	GRIN1
Synonyms:	NMDAR1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	938 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

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.
Subunit structure	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 By similarity. Interacts with LRFN1 and LRFN2 By similarity. Interacts with MYZAP. Ref.10 Ref.11
Subcellular 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.
Post-translational modification	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 By similarity. Ref.9
Involvement in disease	Mental retardation, autosomal dominant 8 (MRD8) [MIM:614254]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.13
Sequence similarities	Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR1/GRIN1 subfamily. [View classification]

Ontologies

Keywords
Biological process	Ion transport Transport
Cellular component	Cell junction Cell membrane Membrane Postsynaptic cell membrane Synapse
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation Mental retardation
Domain	Signal Transmembrane Transmembrane helix
Ligand	Calcium Magnesium
Molecular function	Ion channel Ligand-gated ion channel Receptor
PTM	Disulfide bond Glycoprotein Phosphoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	calcium ion homeostasis Inferred from sequence or structural similarity. Source: UniProtKB calcium ion transmembrane transport Inferred from direct assay Ref.3. Source: GOC ionotropic glutamate receptor signaling pathway Inferred from sequence or structural similarity. Source: UniProtKB positive regulation of excitatory postsynaptic membrane potential Inferred from sequence or structural similarity. Source: BHF-UCL positive regulation of transcription from RNA polymerase II promoter Inferred from sequence or structural similarity. Source: UniProtKB propylene metabolic process Inferred from sequence or structural similarity. Source: BHF-UCL response to ethanol Inferred from direct assay PubMed 18445116. Source: UniProtKB visual learning Inferred from sequence or structural similarity. Source: UniProtKB
Cellular_component	N-methyl-D-aspartate selective glutamate receptor complex Inferred from direct assay PubMed 10480938PubMed 17047094Ref.2. Source: UniProtKB cell junction Inferred from electronic annotation. Source: UniProtKB-KW cell surface Inferred from sequence or structural similarity. Source: BHF-UCL excitatory synapse Inferred from sequence or structural similarity. Source: BHF-UCL outer membrane-bounded periplasmic space Inferred from electronic annotation. Source: InterPro postsynaptic density Inferred from sequence or structural similarity. Source: UniProtKB postsynaptic membrane Inferred from sequence or structural similarity. Source: UniProtKB synaptic cleft Inferred from sequence or structural similarity. Source: BHF-UCL synaptic vesicle Inferred from sequence or structural similarity. Source: UniProtKB terminal bouton Inferred from sequence or structural similarity. Source: BHF-UCL
Molecular_function	calcium ion binding Inferred from sequence or structural similarity. Source: UniProtKB calmodulin binding Inferred from sequence or structural similarity. Source: UniProtKB extracellular-glutamate-gated ion channel activity Inferred from electronic annotation. Source: InterPro glutamate binding Inferred from direct assay Ref.3. Source: UniProtKB glycine binding Inferred from direct assay Ref.3. Source: UniProtKB ionotropic glutamate receptor activity Inferred from electronic annotation. Source: InterPro neurotransmitter binding Inferred from sequence or structural similarity. Source: BHF-UCL
Complete GO annotation...

Alternative products

This entry describes 7 isoforms produced by alternative splicing. [Align] [Select]

Isoform 3 (identifier: Q05586-1)

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.

Isoform 1 (identifier: Q05586-2)

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.

Isoform 2 (identifier: Q05586-3)

Also known as: Medium; NR1-2;

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

Isoform 4 (identifier: Q05586-4)

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

Isoform 5 (identifier: Q05586-5)

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

Isoform 6 (identifier: Q05586-6)

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

Isoform 7 (identifier: Q05586-7)

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

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Signal peptide

1 – 18

18

Potential

Chain

19 – 938

920

Glutamate receptor ionotropic, NMDA 1

PRO_0000011587

Regions

Topological domain

19 – 559

541

Extracellular Potential

Transmembrane

560 – 580

21

Helical; Potential

Topological domain

581 – 636

56

Cytoplasmic Potential

Transmembrane

637 – 657

21

Helical; Potential

Topological domain

658 – 812

155

Extracellular Potential

Transmembrane

813 – 833

21

Helical; Potential

Topological domain

834 – 938

105

Cytoplasmic Potential

Region

516 – 518

3

Glycine binding By similarity

Sites

Binding site

523

1

Glycine By similarity

Binding site

688

1

Glycine By similarity

Binding site

732

1

Glycine By similarity

Amino acid modifications

Modified residue

889

1

Phosphoserine; by PKC Probable

Modified residue

890

1

Phosphoserine; by PKC Probable

Modified residue

896

1

Phosphoserine; by PKC Probable

Modified residue

897

1

Phosphoserine; by PKC Probable

Glycosylation

61

1

N-linked (GlcNAc...) Potential

Glycosylation

203

1

N-linked (GlcNAc...) Potential

Glycosylation

239

1

N-linked (GlcNAc...) Potential

Glycosylation

276

1

N-linked (GlcNAc...) Potential

Glycosylation

300

1

N-linked (GlcNAc...) Potential

Glycosylation

350

1

N-linked (GlcNAc...) Potential

Glycosylation

368

1

N-linked (GlcNAc...) Potential

Glycosylation

440

1

N-linked (GlcNAc...) Potential

Glycosylation

471

1

N-linked (GlcNAc...) Potential

Glycosylation

491

1

N-linked (GlcNAc...) Potential

Disulfide bond

79

Interchain Ref.10

Natural variations

Alternative sequence

190

1

K → KSKKRNYENLDQLSYDNKRG PK in isoform 5, isoform 6 and isoform 7.

VSP_011777

Alternative sequence

864 – 938

75

DRKSG…RHRES → QYHPTDITGPLNLSDPSVST VV in isoform 7.

VSP_045464

Alternative sequence

864 – 900

37

Missing in isoform 2.

VSP_000139

Alternative sequence

864 – 885

22

DRKSG…RAITS → QYHPTDITGPLNLSDPSVST VV in isoform 1.

VSP_000137

Alternative sequence

886 – 938

53

Missing in isoform 1.

VSP_000138

Alternative sequence

901 – 922

22

STGGG…PRRAI → QYHPTDITGPLNLSDPSVST VV in isoform 4 and isoform 6.

VSP_011778

Alternative sequence

923 – 938

16

Missing in isoform 4 and isoform 6.

VSP_011779

Natural variant

540

1

I → M. Ref.5
Corresponds to variant rs3181457 [ dbSNP | Ensembl ].

VAR_049187

Natural variant

560

1

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. Ref.13

VAR_066597

Natural variant

662

1

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. Ref.13

VAR_066598

Natural variant

682

1

A → S. Ref.5
Corresponds to variant rs1126448 [ dbSNP | Ensembl ].

VAR_069057

Experimental info

Sequence conflict

389

1

P → S in AAB25917. Ref.8

Sequence conflict

488

1

E → K in AAB59361. Ref.1

Secondary structure

1

.

.

.

.

.

938

Helix Strand Turn

Details...

Helix

600 – 620

21

Helix

877 – 892

16

Sequences

	Sequence		Length	Mass (Da)
	Isoform 3 (Long) (NR1-3) [UniParc]. Last modified June 1, 1994. Version 1. Checksum: CDF5402769E530AB	FASTA	938	105,373
	10 20 30 40 50 60 MSTMRLLTLA LLFSCSVARA ACDPKIVNIG AVLSTRKHEQ MFREAVNQAN KRHGSWKIQL 70 80 90 100 110 120 NATSVTHKPN AIQMALSVCE DLISSQVYAI LVSHPPTPND HFTPTPVSYT AGFYRIPVLG 130 140 150 160 170 180 LTTRMSIYSD KSIHLSFLRT VPPYSHQSSV WFEMMRVYSW NHIILLVSDD HEGRAAQKRL 190 200 210 220 230 240 ETLLEERESK AEKVLQFDPG TKNVTALLME AKELEARVII LSASEDDAAT VYRAAAMLNM 250 260 270 280 290 300 TGSGYVWLVG EREISGNALR YAPDGILGLQ LINGKNESAH ISDAVGVVAQ AVHELLEKEN 310 320 330 340 350 360 ITDPPRGCVG NTNIWKTGPL FKRVLMSSKY ADGVTGRVEF NEDGDRKFAN YSIMNLQNRK 370 380 390 400 410 420 LVQVGIYNGT HVIPNDRKII WPGGETEKPR GYQMSTRLKI VTIHQEPFVY VKPTLSDGTC 430 440 450 460 470 480 KEEFTVNGDP VKKVICTGPN DTSPGSPRHT VPQCCYGFCI DLLIKLARTM NFTYEVHLVA 490 500 510 520 530 540 DGKFGTQERV NNSNKKEWNG MMGELLSGQA DMIVAPLTIN NERAQYIEFS KPFKYQGLTI 550 560 570 580 590 600 LVKKEIPRST LDSFMQPFQS TLWLLVGLSV HVVAVMLYLL DRFSPFGRFK VNSEEEEEDA 610 620 630 640 650 660 LTLSSAMWFS WGVLLNSGIG EGAPRSFSAR ILGMVWAGFA MIIVASYTAN LAAFLVLDRP 670 680 690 700 710 720 EERITGINDP RLRNPSDKFI YATVKQSSVD IYFRRQVELS TMYRHMEKHN YESAAEAIQA 730 740 750 760 770 780 VRDNKLHAFI WDSAVLEFEA SQKCDLVTTG ELFFRSGFGI GMRKDSPWKQ NVSLSILKSH 790 800 810 820 830 840 ENGFMEDLDK TWVRYQECDS RSNAPATLTF ENMAGVFMLV AGGIVAGIFL IFIEIAYKRH 850 860 870 880 890 900 KDARRKQMQL AFAAVNVWRK NLQDRKSGRA EPDPKKKATF RAITSTLASS FKRRRSSKDT 910 920 930 STGGGRGALQ NQKDTVLPRR AIEREEGQLQ LCSRHRES
	Isoform 1 (Short) (NR1-1) [UniParc]. Checksum: 28C383037998DA20	FASTA	885	99,315
	10 20 30 40 50 60 MSTMRLLTLA LLFSCSVARA ACDPKIVNIG AVLSTRKHEQ MFREAVNQAN KRHGSWKIQL 70 80 90 100 110 120 NATSVTHKPN AIQMALSVCE DLISSQVYAI LVSHPPTPND HFTPTPVSYT AGFYRIPVLG 130 140 150 160 170 180 LTTRMSIYSD KSIHLSFLRT VPPYSHQSSV WFEMMRVYSW NHIILLVSDD HEGRAAQKRL 190 200 210 220 230 240 ETLLEERESK AEKVLQFDPG TKNVTALLME AKELEARVII LSASEDDAAT VYRAAAMLNM 250 260 270 280 290 300 TGSGYVWLVG EREISGNALR YAPDGILGLQ LINGKNESAH ISDAVGVVAQ AVHELLEKEN 310 320 330 340 350 360 ITDPPRGCVG NTNIWKTGPL FKRVLMSSKY ADGVTGRVEF NEDGDRKFAN YSIMNLQNRK 370 380 390 400 410 420 LVQVGIYNGT HVIPNDRKII WPGGETEKPR GYQMSTRLKI VTIHQEPFVY VKPTLSDGTC 430 440 450 460 470 480 KEEFTVNGDP VKKVICTGPN DTSPGSPRHT VPQCCYGFCI DLLIKLARTM NFTYEVHLVA 490 500 510 520 530 540 DGKFGTQERV NNSNKKEWNG MMGELLSGQA DMIVAPLTIN NERAQYIEFS KPFKYQGLTI 550 560 570 580 590 600 LVKKEIPRST LDSFMQPFQS TLWLLVGLSV HVVAVMLYLL DRFSPFGRFK VNSEEEEEDA 610 620 630 640 650 660 LTLSSAMWFS WGVLLNSGIG EGAPRSFSAR ILGMVWAGFA MIIVASYTAN LAAFLVLDRP 670 680 690 700 710 720 EERITGINDP RLRNPSDKFI YATVKQSSVD IYFRRQVELS TMYRHMEKHN YESAAEAIQA 730 740 750 760 770 780 VRDNKLHAFI WDSAVLEFEA SQKCDLVTTG ELFFRSGFGI GMRKDSPWKQ NVSLSILKSH 790 800 810 820 830 840 ENGFMEDLDK TWVRYQECDS RSNAPATLTF ENMAGVFMLV AGGIVAGIFL IFIEIAYKRH 850 860 870 880 KDARRKQMQL AFAAVNVWRK NLQQYHPTDI TGPLNLSDPS VSTVV
	Isoform 2 (Medium) (NR1-2) [UniParc]. Checksum: E0C37E8C9F686155	FASTA	901	101,209
	10 20 30 40 50 60 MSTMRLLTLA LLFSCSVARA ACDPKIVNIG AVLSTRKHEQ MFREAVNQAN KRHGSWKIQL 70 80 90 100 110 120 NATSVTHKPN AIQMALSVCE DLISSQVYAI LVSHPPTPND HFTPTPVSYT AGFYRIPVLG 130 140 150 160 170 180 LTTRMSIYSD KSIHLSFLRT VPPYSHQSSV WFEMMRVYSW NHIILLVSDD HEGRAAQKRL 190 200 210 220 230 240 ETLLEERESK AEKVLQFDPG TKNVTALLME AKELEARVII LSASEDDAAT VYRAAAMLNM 250 260 270 280 290 300 TGSGYVWLVG EREISGNALR YAPDGILGLQ LINGKNESAH ISDAVGVVAQ AVHELLEKEN 310 320 330 340 350 360 ITDPPRGCVG NTNIWKTGPL FKRVLMSSKY ADGVTGRVEF NEDGDRKFAN YSIMNLQNRK 370 380 390 400 410 420 LVQVGIYNGT HVIPNDRKII WPGGETEKPR GYQMSTRLKI VTIHQEPFVY VKPTLSDGTC 430 440 450 460 470 480 KEEFTVNGDP VKKVICTGPN DTSPGSPRHT VPQCCYGFCI DLLIKLARTM NFTYEVHLVA 490 500 510 520 530 540 DGKFGTQERV NNSNKKEWNG MMGELLSGQA DMIVAPLTIN NERAQYIEFS KPFKYQGLTI 550 560 570 580 590 600 LVKKEIPRST LDSFMQPFQS TLWLLVGLSV HVVAVMLYLL DRFSPFGRFK VNSEEEEEDA 610 620 630 640 650 660 LTLSSAMWFS WGVLLNSGIG EGAPRSFSAR ILGMVWAGFA MIIVASYTAN LAAFLVLDRP 670 680 690 700 710 720 EERITGINDP RLRNPSDKFI YATVKQSSVD IYFRRQVELS TMYRHMEKHN YESAAEAIQA 730 740 750 760 770 780 VRDNKLHAFI WDSAVLEFEA SQKCDLVTTG ELFFRSGFGI GMRKDSPWKQ NVSLSILKSH 790 800 810 820 830 840 ENGFMEDLDK TWVRYQECDS RSNAPATLTF ENMAGVFMLV AGGIVAGIFL IFIEIAYKRH 850 860 870 880 890 900 KDARRKQMQL AFAAVNVWRK NLQSTGGGRG ALQNQKDTVL PRRAIEREEG QLQLCSRHRE S
	Isoform 4 [UniParc]. Checksum: F704AD9A244BD78E	FASTA	922	103,479
	10 20 30 40 50 60 MSTMRLLTLA LLFSCSVARA ACDPKIVNIG AVLSTRKHEQ MFREAVNQAN KRHGSWKIQL 70 80 90 100 110 120 NATSVTHKPN AIQMALSVCE DLISSQVYAI LVSHPPTPND HFTPTPVSYT AGFYRIPVLG 130 140 150 160 170 180 LTTRMSIYSD KSIHLSFLRT VPPYSHQSSV WFEMMRVYSW NHIILLVSDD HEGRAAQKRL 190 200 210 220 230 240 ETLLEERESK AEKVLQFDPG TKNVTALLME AKELEARVII LSASEDDAAT VYRAAAMLNM 250 260 270 280 290 300 TGSGYVWLVG EREISGNALR YAPDGILGLQ LINGKNESAH ISDAVGVVAQ AVHELLEKEN 310 320 330 340 350 360 ITDPPRGCVG NTNIWKTGPL FKRVLMSSKY ADGVTGRVEF NEDGDRKFAN YSIMNLQNRK 370 380 390 400 410 420 LVQVGIYNGT HVIPNDRKII WPGGETEKPR GYQMSTRLKI VTIHQEPFVY VKPTLSDGTC 430 440 450 460 470 480 KEEFTVNGDP VKKVICTGPN DTSPGSPRHT VPQCCYGFCI DLLIKLARTM NFTYEVHLVA 490 500 510 520 530 540 DGKFGTQERV NNSNKKEWNG MMGELLSGQA DMIVAPLTIN NERAQYIEFS KPFKYQGLTI 550 560 570 580 590 600 LVKKEIPRST LDSFMQPFQS TLWLLVGLSV HVVAVMLYLL DRFSPFGRFK VNSEEEEEDA 610 620 630 640 650 660 LTLSSAMWFS WGVLLNSGIG EGAPRSFSAR ILGMVWAGFA MIIVASYTAN LAAFLVLDRP 670 680 690 700 710 720 EERITGINDP RLRNPSDKFI YATVKQSSVD IYFRRQVELS TMYRHMEKHN YESAAEAIQA 730 740 750 760 770 780 VRDNKLHAFI WDSAVLEFEA SQKCDLVTTG ELFFRSGFGI GMRKDSPWKQ NVSLSILKSH 790 800 810 820 830 840 ENGFMEDLDK TWVRYQECDS RSNAPATLTF ENMAGVFMLV AGGIVAGIFL IFIEIAYKRH 850 860 870 880 890 900 KDARRKQMQL AFAAVNVWRK NLQDRKSGRA EPDPKKKATF RAITSTLASS FKRRRSSKDT 910 920 QYHPTDITGP LNLSDPSVST VV
	Isoform 5 [UniParc]. Checksum: C7F52E8535F521EE	FASTA	959	107,909
	10 20 30 40 50 60 MSTMRLLTLA LLFSCSVARA ACDPKIVNIG AVLSTRKHEQ MFREAVNQAN KRHGSWKIQL 70 80 90 100 110 120 NATSVTHKPN AIQMALSVCE DLISSQVYAI LVSHPPTPND HFTPTPVSYT AGFYRIPVLG 130 140 150 160 170 180 LTTRMSIYSD KSIHLSFLRT VPPYSHQSSV WFEMMRVYSW NHIILLVSDD HEGRAAQKRL 190 200 210 220 230 240 ETLLEERESK SKKRNYENLD QLSYDNKRGP KAEKVLQFDP GTKNVTALLM EAKELEARVI 250 260 270 280 290 300 ILSASEDDAA TVYRAAAMLN MTGSGYVWLV GEREISGNAL RYAPDGILGL QLINGKNESA 310 320 330 340 350 360 HISDAVGVVA QAVHELLEKE NITDPPRGCV GNTNIWKTGP LFKRVLMSSK YADGVTGRVE 370 380 390 400 410 420 FNEDGDRKFA NYSIMNLQNR KLVQVGIYNG THVIPNDRKI IWPGGETEKP RGYQMSTRLK 430 440 450 460 470 480 IVTIHQEPFV YVKPTLSDGT CKEEFTVNGD PVKKVICTGP NDTSPGSPRH TVPQCCYGFC 490 500 510 520 530 540 IDLLIKLART MNFTYEVHLV ADGKFGTQER VNNSNKKEWN GMMGELLSGQ ADMIVAPLTI 550 560 570 580 590 600 NNERAQYIEF SKPFKYQGLT ILVKKEIPRS TLDSFMQPFQ STLWLLVGLS VHVVAVMLYL 610 620 630 640 650 660 LDRFSPFGRF KVNSEEEEED ALTLSSAMWF SWGVLLNSGI GEGAPRSFSA RILGMVWAGF 670 680 690 700 710 720 AMIIVASYTA NLAAFLVLDR PEERITGIND PRLRNPSDKF IYATVKQSSV DIYFRRQVEL 730 740 750 760 770 780 STMYRHMEKH NYESAAEAIQ AVRDNKLHAF IWDSAVLEFE ASQKCDLVTT GELFFRSGFG 790 800 810 820 830 840 IGMRKDSPWK QNVSLSILKS HENGFMEDLD KTWVRYQECD SRSNAPATLT FENMAGVFML 850 860 870 880 890 900 VAGGIVAGIF LIFIEIAYKR HKDARRKQMQ LAFAAVNVWR KNLQDRKSGR AEPDPKKKAT 910 920 930 940 950 FRAITSTLAS SFKRRRSSKD TSTGGGRGAL QNQKDTVLPR RAIEREEGQL QLCSRHRES
	Isoform 6 [UniParc]. Checksum: 20DBA38A2B9E3ED0	FASTA	943	106,015
	10 20 30 40 50 60 MSTMRLLTLA LLFSCSVARA ACDPKIVNIG AVLSTRKHEQ MFREAVNQAN KRHGSWKIQL 70 80 90 100 110 120 NATSVTHKPN AIQMALSVCE DLISSQVYAI LVSHPPTPND HFTPTPVSYT AGFYRIPVLG 130 140 150 160 170 180 LTTRMSIYSD KSIHLSFLRT VPPYSHQSSV WFEMMRVYSW NHIILLVSDD HEGRAAQKRL 190 200 210 220 230 240 ETLLEERESK SKKRNYENLD QLSYDNKRGP KAEKVLQFDP GTKNVTALLM EAKELEARVI 250 260 270 280 290 300 ILSASEDDAA TVYRAAAMLN MTGSGYVWLV GEREISGNAL RYAPDGILGL QLINGKNESA 310 320 330 340 350 360 HISDAVGVVA QAVHELLEKE NITDPPRGCV GNTNIWKTGP LFKRVLMSSK YADGVTGRVE 370 380 390 400 410 420 FNEDGDRKFA NYSIMNLQNR KLVQVGIYNG THVIPNDRKI IWPGGETEKP RGYQMSTRLK 430 440 450 460 470 480 IVTIHQEPFV YVKPTLSDGT CKEEFTVNGD PVKKVICTGP NDTSPGSPRH TVPQCCYGFC 490 500 510 520 530 540 IDLLIKLART MNFTYEVHLV ADGKFGTQER VNNSNKKEWN GMMGELLSGQ ADMIVAPLTI 550 560 570 580 590 600 NNERAQYIEF SKPFKYQGLT ILVKKEIPRS TLDSFMQPFQ STLWLLVGLS VHVVAVMLYL 610 620 630 640 650 660 LDRFSPFGRF KVNSEEEEED ALTLSSAMWF SWGVLLNSGI GEGAPRSFSA RILGMVWAGF 670 680 690 700 710 720 AMIIVASYTA NLAAFLVLDR PEERITGIND PRLRNPSDKF IYATVKQSSV DIYFRRQVEL 730 740 750 760 770 780 STMYRHMEKH NYESAAEAIQ AVRDNKLHAF IWDSAVLEFE ASQKCDLVTT GELFFRSGFG 790 800 810 820 830 840 IGMRKDSPWK QNVSLSILKS HENGFMEDLD KTWVRYQECD SRSNAPATLT FENMAGVFML 850 860 870 880 890 900 VAGGIVAGIF LIFIEIAYKR HKDARRKQMQ LAFAAVNVWR KNLQDRKSGR AEPDPKKKAT 910 920 930 940 FRAITSTLAS SFKRRRSSKD TQYHPTDITG PLNLSDPSVS TVV
	Isoform 7 [UniParc]. Checksum: B275FBD4126F4F15	FASTA	906	101,851
	10 20 30 40 50 60 MSTMRLLTLA LLFSCSVARA ACDPKIVNIG AVLSTRKHEQ MFREAVNQAN KRHGSWKIQL 70 80 90 100 110 120 NATSVTHKPN AIQMALSVCE DLISSQVYAI LVSHPPTPND HFTPTPVSYT AGFYRIPVLG 130 140 150 160 170 180 LTTRMSIYSD KSIHLSFLRT VPPYSHQSSV WFEMMRVYSW NHIILLVSDD HEGRAAQKRL 190 200 210 220 230 240 ETLLEERESK SKKRNYENLD QLSYDNKRGP KAEKVLQFDP GTKNVTALLM EAKELEARVI 250 260 270 280 290 300 ILSASEDDAA TVYRAAAMLN MTGSGYVWLV GEREISGNAL RYAPDGILGL QLINGKNESA 310 320 330 340 350 360 HISDAVGVVA QAVHELLEKE NITDPPRGCV GNTNIWKTGP LFKRVLMSSK YADGVTGRVE 370 380 390 400 410 420 FNEDGDRKFA NYSIMNLQNR KLVQVGIYNG THVIPNDRKI IWPGGETEKP RGYQMSTRLK 430 440 450 460 470 480 IVTIHQEPFV YVKPTLSDGT CKEEFTVNGD PVKKVICTGP NDTSPGSPRH TVPQCCYGFC 490 500 510 520 530 540 IDLLIKLART MNFTYEVHLV ADGKFGTQER VNNSNKKEWN GMMGELLSGQ ADMIVAPLTI 550 560 570 580 590 600 NNERAQYIEF SKPFKYQGLT ILVKKEIPRS TLDSFMQPFQ STLWLLVGLS VHVVAVMLYL 610 620 630 640 650 660 LDRFSPFGRF KVNSEEEEED ALTLSSAMWF SWGVLLNSGI GEGAPRSFSA RILGMVWAGF 670 680 690 700 710 720 AMIIVASYTA NLAAFLVLDR PEERITGIND PRLRNPSDKF IYATVKQSSV DIYFRRQVEL 730 740 750 760 770 780 STMYRHMEKH NYESAAEAIQ AVRDNKLHAF IWDSAVLEFE ASQKCDLVTT GELFFRSGFG 790 800 810 820 830 840 IGMRKDSPWK QNVSLSILKS HENGFMEDLD KTWVRYQECD SRSNAPATLT FENMAGVFML 850 860 870 880 890 900 VAGGIVAGIF LIFIEIAYKR HKDARRKQMQ LAFAAVNVWR KNLQQYHPTD ITGPLNLSDP SVSTVV

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]	"Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability." Hamdan F.F., Gauthier J., Araki Y., Lin D.T., Yoshizawa Y., Higashi K., Park A.R., Spiegelman D., Dobrzeniecka S., Piton A., Tomitori H., Daoud H., Massicotte C., Henrion E., Diallo O., Shekarabi M., Marineau C., Shevell M. , Maranda B., Mitchell G., Nadeau A., D'Anjou G., Vanasse M., Srour M., Lafreniere R.G., Drapeau P., Lacaille J.C., Kim E., Lee J.R., Igarashi K., Huganir R.L., Rouleau G.A., Michaud J.L. Am. J. Hum. Genet. 88:306-316(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS MRD8 SER-560 INS AND LYS-662, CHARACTERIZATION OF VARIANTS MRD8 SER-560 INS AND LYS-662.
+	Additional computationally mapped references.

Web resources

Wikipedia

NMDA receptor entry

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

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.

IPI

IPI00011989.
IPI00013915.
IPI00335571.
IPI00465228.
IPI00470730.
IPI00470731.
IPI00646891.

PIR

A46612.
A47551.

RefSeq

NP_000823.4. NM_000832.6.
NP_001172019.1. NM_001185090.1.
NP_001172020.1. NM_001185091.1.
NP_015566.1. NM_007327.3.
NP_067544.1. NM_021569.3.

UniGene

Hs.558334.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2NR1	NMR	-	A	599-621	[»]
3BYA	X-ray	1.85	B	875-898	[»]

ProteinModelPortal

Q05586.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q05586. 2 interactions.

MINT

MINT-1900224.

Protein family/group databases

TCDB

1.A.10.1.6. glutamate-gated ion channel (GIC) family of neurotransmitter receptors.

PTM databases

PhosphoSite

Q05586.

Polymorphism databases

DMDM

548377.

Proteomic databases

PaxDb

Q05586.

PRIDE

Q05586.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000315048; ENSP00000316696; ENSG00000176884.
ENST00000371546; ENSP00000360601; ENSG00000176884.
ENST00000371550; ENSP00000360605; ENSG00000176884.
ENST00000371553; ENSP00000360608; ENSG00000176884.
ENST00000371559; ENSP00000360614; ENSG00000176884.
ENST00000371560; ENSP00000360615; ENSG00000176884.
ENST00000371561; ENSP00000360616; ENSG00000176884.

GeneID

2902.

KEGG

hsa:2902.

UCSC

uc004clk.3. human.
uc004cll.3. human.
uc004clm.3. human.

Organism-specific databases

CTD

2902.

GeneCards

GC09P140032.

HGNC

HGNC:4584. GRIN1.

HPA

CAB006831.

MIM

138249. gene.
614254. phenotype.

neXtProt

NX_Q05586.

Orphanet

178469. Autosomal dominant nonsyndromic intellectual deficit.

PharmGKB

PA28978.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG282132.

HOVERGEN

HBG052638.

KO

K05208.

OMA

VYRSAAM.

OrthoDB

EOG4CG07J.

PhylomeDB

Q05586.

Enzyme and pathway databases

Reactome

REACT_13685. Neuronal System.

Gene expression databases

ArrayExpress

Q05586.

Bgee

Q05586.

CleanEx

HS_GRIN1.

Genevestigator

Q05586.

GermOnline

ENSG00000176884. Homo sapiens.

Family and domain databases

InterPro

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.
IPR001638. SBP_bac_3.
[Graphical view]

Pfam

PF01094. ANF_receptor. 1 hit.
PF10562. CaM_bdg_C0. 1 hit.
PF00060. Lig_chan. 1 hit.
PF00497. SBP_bac_3. 1 hit.
[Graphical view]

PRINTS

PR00177. NMDARECEPTOR.

SMART

SM00918. Lig_chan-Glu_bd. 1 hit.
SM00079. PBPe. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

BindingDB

Q05586.

ChEMBL

CHEMBL2015.

ChiTaRS

GRIN1. human.

DrugBank

DB00142. L-Glutamic Acid.
DB01173. Orphenadrine.

EvolutionaryTrace

Q05586.

GenomeRNAi

2902.

NextBio

11487.

PMAP-CutDB

Q5VSF3.

SOURCE

Search...

Entry information

Entry name

NMDZ1_HUMAN

Accession

Primary (citable) accession number: Q05586
Secondary accession number(s): A6NLK7 , A6NLR1, C9K0X1, P35437, Q12867, Q12868, Q5VSF3, Q5VSF4, Q5VSF5, Q5VSF6, Q5VSF7, Q5VSF8, Q9UPF8, Q9UPF9

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 1, 1994
Last sequence update:	June 1, 1994
Last modified:	May 1, 2013
This is version 159 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.