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Protein

Glutamate receptor ionotropic, NMDA 1

Gene

GRIN1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Component of NMDA receptor complexes that function as heterotetrameric, ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit, glycine binding to the zeta subunit, plus membrane depolarization to eliminate channel inhibition by Mg2+ (PubMed:7685113, PubMed:28126851, PubMed:26919761, PubMed:26875626, PubMed:28105280). Sensitivity to glutamate and channel kinetics depend on the subunit composition (PubMed:26919761).5 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei523GlycineCombined sources3 Publications1
Binding sitei688GlycineCombined sources3 Publications1
Binding sitei732GlycineCombined sources3 Publications1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionIon channel, Ligand-gated ion channel, Receptor
Biological processIon transport, Transport
LigandCalcium, Magnesium

Enzyme and pathway databases

ReactomeiR-HSA-3928662 EPHB-mediated forward signaling
R-HSA-438066 Unblocking of NMDA receptor, glutamate binding and activation
R-HSA-442729 CREB phosphorylation through the activation of CaMKII
R-HSA-442982 Ras activation upon Ca2+ influx through NMDA receptor
R-HSA-5673001 RAF/MAP kinase cascade
R-HSA-6794361 Neurexins and neuroligins
R-HSA-8849932 Synaptic adhesion-like molecules
SignaLinkiQ05586

Protein family/group databases

TCDBi1.A.10.1.20 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
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000176884.14
HGNCiHGNC:4584 GRIN1
MIMi138249 gene
neXtProtiNX_Q05586

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini19 – 559ExtracellularBy similarityAdd BLAST541
Transmembranei560 – 580HelicalBy similarityAdd BLAST21
Topological domaini581 – 602CytoplasmicBy similarityAdd BLAST22
Intramembranei603 – 624Discontinuously helicalBy similarityAdd BLAST22
Topological domaini625 – 630CytoplasmicBy similarity6
Transmembranei631 – 647HelicalBy similarityAdd BLAST17
Topological domaini648 – 812ExtracellularBy similarityAdd BLAST165
Transmembranei813 – 833HelicalBy similarityAdd BLAST21
Topological domaini834 – 938CytoplasmicBy similarityAdd BLAST105

Keywords - Cellular componenti

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

Pathology & Biotechi

Involvement in diseasei

Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant neurodevelopmental disorder characterized by severe mental retardation and developmental delay, absent speech, muscular hypotonia, dyskinesia, and hyperkinetic movements. Cortical blindness, cerebral atrophy, and seizures are present in some patients.
See also OMIM:614254
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_079984217R → W in NDHMSD; changed glutamate-gated calcium ion channel activity; increased inhibition by zinc. 1 Publication1
Natural variantiVAR_079991557P → R in NDHMSD; changed localization to the cell membrane; loss of glutamate-gated calcium ion channel activity. 3 PublicationsCorresponds to variant dbSNP:rs878853143Ensembl.1
Natural variantiVAR_066597560S → SS in NDHMSD; 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 Publication1
Natural variantiVAR_079992618G → R in NDHMSD; loss of function in calcium ion transmembrane import into cytosol. 1 Publication1
Natural variantiVAR_079993620G → R in NDHMSD; loss of function in calcium ion transmembrane import into cytosol. 1 PublicationCorresponds to variant dbSNP:rs797045047Ensembl.1
Natural variantiVAR_079995645A → S in NDHMSD; unknown pathological significance; no effect on glutamate-gated calcium ion channel activity. 1 Publication1
Natural variantiVAR_079996647Y → S in NDHMSD; loss of glutamate-gated calcium ion channel activity. 1 Publication1
Natural variantiVAR_066598662E → K in NDHMSD; 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 PublicationCorresponds to variant dbSNP:rs387906635Ensembl.1
Natural variantiVAR_079998688S → Y in NDHMSD. 1 Publication1
Natural variantiVAR_079999815G → R in NDHMSD; also found in a patient with early onset epileptic encephalopathy; loss of glutamate-gated calcium ion channel activity. 2 PublicationsCorresponds to variant dbSNP:rs797044925Ensembl.1
Natural variantiVAR_080000815G → V in NDHMSD. 1 Publication1
Natural variantiVAR_080001817F → L in NDHMSD; decreased glutamate-gated calcium ion channel activity. 1 Publication1
Natural variantiVAR_080002827G → R in NDHMSD; loss of function in calcium ion transmembrane import into cytosol. 2 Publications1
Natural variantiVAR_080003844R → C in NDHMSD; no effect on glutamate-gated calcium ion channel activity. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi813M → V: Slight decrease in glycine agonist potency; no effect on glutamate agonist potency. 1 Publication1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi2902
MalaCardsiGRIN1
MIMi614254 phenotype
OpenTargetsiENSG00000176884
Orphaneti178469 Autosomal dominant non-syndromic intellectual disability
PharmGKBiPA28978

Chemistry databases

ChEMBLiCHEMBL2015
DrugBankiDB00659 Acamprosate
DB06151 Acetylcysteine
DB08838 Agmatine
DB00289 Atomoxetine
DB05824 CNS-5161
DB04620 Cycloleucine
DB03929 D-Serine
DB00996 Gabapentin
DB06741 Gavestinel
DB08954 Ifenprodil
DB06738 Ketobemidone
DB00142 L-Glutamic Acid
DB01043 Memantine
DB04896 Milnacipran
DB01173 Orphenadrine
DB00312 Pentobarbital
DB00454 Pethidine
DB01174 Phenobarbital
DB01708 Prasterone
DB00418 Secobarbital
GuidetoPHARMACOLOGYi455

Polymorphism and mutation databases

BioMutaiGRIN1
DMDMi548377

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 18Sequence analysisAdd BLAST18
ChainiPRO_000001158719 – 938Glutamate receptor ionotropic, NMDA 1Add BLAST920

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi61N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi79 ↔ 308By similarity
Glycosylationi203N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi239N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi276N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi300N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi350N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi368N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi420 ↔ 454Combined sources3 Publications
Disulfide bondi436 ↔ 455Combined sources3 Publications
Glycosylationi440N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi471N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi491N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi744 ↔ 798Combined sources3 Publications
Modified residuei889Phosphoserine; by PKC1 Publication1
Modified residuei890Phosphoserine; by PKC1 Publication1
Modified residuei896Phosphoserine; by PKC1 Publication1
Modified residuei897Phosphoserine; by PKC1 Publication1

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
PeptideAtlasiQ05586
PRIDEiQ05586

PTM databases

iPTMnetiQ05586
PhosphoSitePlusiQ05586

Miscellaneous databases

PMAP-CutDBiQ5VSF3

Expressioni

Gene expression databases

BgeeiENSG00000176884
CleanExiHS_GRIN1
ExpressionAtlasiQ05586 baseline and differential
GenevisibleiQ05586 HS

Organism-specific databases

HPAiCAB006831

Interactioni

Subunit structurei

Heterotetramer. Forms heterotetrameric channels composed of two zeta subunits (GRIN1), and two epsilon subunits (GRIN2A, GRIN2B, GRIN2C or GRIN2D) (in vitro) (PubMed:7685113, PubMed:28126851, PubMed:26919761, PubMed:26875626, PubMed:28105280). Can also form heterotetrameric channels that contain at least one zeta subunit (GRIN1), an epsilon subunit, plus GRIN3A or GRIN3B (in vitro). In vivo, the subunit composition may vary in function of the expression levels of the different subunits. Found in a complex with GRIN2A or GRIN2B, GRIN3A and PPP2CB (By similarity). Found in a complex with GRIN2A or GRIN2B and GRIN3B (By similarity). 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 DLG4 and MPDZ. Interacts with LRFN1 and LRFN2 (By similarity). Interacts with MYZAP (PubMed:18849881). Found in a complex with DLG4 and PRR7 (By similarity). Found in a complex with GRIN2B and PRR7 (PubMed:27458189). Interacts with PRR7; the interaction is reduced following NMDA receptor activity (PubMed:27458189).By similarity7 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
Dlg3Q629363EBI-8286218,EBI-349596From Rattus norvegicus.

GO - Molecular functioni

Protein-protein interaction databases

BioGridi10915912 interactors.
CORUMiQ05586
IntActiQ05586 7 interactors.
MINTiQ05586
STRINGi9606.ENSP00000360608

Chemistry databases

BindingDBiQ05586

Structurei

Secondary structure

1938
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi398 – 402Combined sources5
Turni406 – 408Combined sources3
Beta strandi409 – 413Combined sources5
Beta strandi426 – 428Combined sources3
Beta strandi434 – 441Combined sources8
Beta strandi450 – 457Combined sources8
Helixi458 – 470Combined sources13
Beta strandi474 – 478Combined sources5
Beta strandi487 – 489Combined sources3
Beta strandi496 – 498Combined sources3
Helixi500 – 506Combined sources7
Beta strandi511 – 513Combined sources3
Helixi521 – 524Combined sources4
Beta strandi527 – 529Combined sources3
Beta strandi533 – 543Combined sources11
Helixi600 – 620Combined sources21
Helixi670 – 673Combined sources4
Beta strandi677 – 679Combined sources3
Helixi688 – 695Combined sources8
Helixi697 – 699Combined sources3
Helixi700 – 707Combined sources8
Beta strandi711 – 713Combined sources3
Helixi714 – 722Combined sources9
Beta strandi727 – 732Combined sources6
Helixi733 – 742Combined sources10
Beta strandi746 – 758Combined sources13
Beta strandi761 – 763Combined sources3
Helixi769 – 781Combined sources13
Helixi784 – 792Combined sources9
Helixi877 – 892Combined sources16

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2HQWX-ray1.90B875-898[»]
2NR1NMR-A599-621[»]
3BYAX-ray1.85B875-898[»]
5H8FX-ray1.81B394-544[»]
B663-800[»]
5H8HX-ray2.23B394-544[»]
B663-800[»]
5H8NX-ray2.50B394-544[»]
B663-800[»]
5H8QX-ray1.90B394-544[»]
B663-800[»]
5I2KX-ray2.86B394-544[»]
B663-800[»]
5I2NX-ray2.12B394-544[»]
B663-800[»]
5KCJX-ray2.09B394-544[»]
B663-800[»]
5KDTX-ray2.44B394-544[»]
B663-800[»]
5TP9X-ray2.40B394-544[»]
B663-800[»]
5TPAX-ray2.48B394-544[»]
B663-800[»]
ProteinModelPortaliQ05586
SMRiQ05586
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ05586

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni516 – 518Glycine bindingCombined sources3 Publications3
Regioni603 – 624Pore-formingBy similarityAdd BLAST22

Domaini

A hydrophobic region that gives rise to the prediction of a transmembrane span does not cross the membrane, but is part of a discontinuously helical region that dips into the membrane and is probably part of the pore and of the selectivity filter.By similarity

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1053 Eukaryota
ENOG410XNUR LUCA
GeneTreeiENSGT00910000143978
HOGENOMiHOG000231491
HOVERGENiHBG052638
InParanoidiQ05586
KOiK05208
OMAiSGFYHIP
OrthoDBiEOG091G0M5H
PhylomeDBiQ05586
TreeFamiTF351405

Family and domain databases

InterProiView protein in InterPro
IPR001828 ANF_lig-bd_rcpt
IPR018882 CaM-bd_C0_NMDA_rcpt_NR1
IPR019594 Glu/Gly-bd
IPR001508 Iono_rcpt_met
IPR001320 Iontro_rcpt
IPR028082 Peripla_BP_I
PfamiView protein in Pfam
PF01094 ANF_receptor, 1 hit
PF10562 CaM_bdg_C0, 1 hit
PF00060 Lig_chan, 1 hit
PF10613 Lig_chan-Glu_bd, 1 hit
PRINTSiPR00177 NMDARECEPTOR
SMARTiView protein in SMART
SM00918 Lig_chan-Glu_bd, 1 hit
SM00079 PBPe, 1 hit
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. AlignAdd to basket

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

        10         20         30         40         50
MSTMRLLTLA LLFSCSVARA ACDPKIVNIG AVLSTRKHEQ MFREAVNQAN
60 70 80 90 100
KRHGSWKIQL NATSVTHKPN AIQMALSVCE DLISSQVYAI LVSHPPTPND
110 120 130 140 150
HFTPTPVSYT AGFYRIPVLG LTTRMSIYSD KSIHLSFLRT VPPYSHQSSV
160 170 180 190 200
WFEMMRVYSW NHIILLVSDD HEGRAAQKRL ETLLEERESK AEKVLQFDPG
210 220 230 240 250
TKNVTALLME AKELEARVII LSASEDDAAT VYRAAAMLNM TGSGYVWLVG
260 270 280 290 300
EREISGNALR YAPDGILGLQ LINGKNESAH ISDAVGVVAQ AVHELLEKEN
310 320 330 340 350
ITDPPRGCVG NTNIWKTGPL FKRVLMSSKY ADGVTGRVEF NEDGDRKFAN
360 370 380 390 400
YSIMNLQNRK LVQVGIYNGT HVIPNDRKII WPGGETEKPR GYQMSTRLKI
410 420 430 440 450
VTIHQEPFVY VKPTLSDGTC KEEFTVNGDP VKKVICTGPN DTSPGSPRHT
460 470 480 490 500
VPQCCYGFCI DLLIKLARTM NFTYEVHLVA DGKFGTQERV NNSNKKEWNG
510 520 530 540 550
MMGELLSGQA DMIVAPLTIN NERAQYIEFS KPFKYQGLTI LVKKEIPRST
560 570 580 590 600
LDSFMQPFQS TLWLLVGLSV HVVAVMLYLL DRFSPFGRFK VNSEEEEEDA
610 620 630 640 650
LTLSSAMWFS WGVLLNSGIG EGAPRSFSAR ILGMVWAGFA MIIVASYTAN
660 670 680 690 700
LAAFLVLDRP EERITGINDP RLRNPSDKFI YATVKQSSVD IYFRRQVELS
710 720 730 740 750
TMYRHMEKHN YESAAEAIQA VRDNKLHAFI WDSAVLEFEA SQKCDLVTTG
760 770 780 790 800
ELFFRSGFGI GMRKDSPWKQ NVSLSILKSH ENGFMEDLDK TWVRYQECDS
810 820 830 840 850
RSNAPATLTF ENMAGVFMLV AGGIVAGIFL IFIEIAYKRH KDARRKQMQL
860 870 880 890 900
AFAAVNVWRK NLQDRKSGRA EPDPKKKATF RAITSTLASS FKRRRSSKDT
910 920 930
STGGGRGALQ NQKDTVLPRR AIEREEGQLQ LCSRHRES
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)DescriptionActionsGraphical viewLength
Sequence conflicti389P → S in AAB25917 (PubMed:7681588).Curated1
Sequence conflicti488E → K in AAB59361 (PubMed:8406025).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_079984217R → W in NDHMSD; changed glutamate-gated calcium ion channel activity; increased inhibition by zinc. 1 Publication1
Natural variantiVAR_079985227D → H Found in patients with intellectual disability and autistic features; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs869312865Ensembl.1
Natural variantiVAR_079986306R → Q Found in a patient with schizophrenia; unknown pathological significance. 1 Publication1
Natural variantiVAR_079987349A → S1 PublicationCorresponds to variant dbSNP:rs148008303Ensembl.1
Natural variantiVAR_079988419T → A1 PublicationCorresponds to variant dbSNP:rs763133592Ensembl.1
Natural variantiVAR_049187540I → M1 PublicationCorresponds to variant dbSNP:rs3181457Ensembl.1
Natural variantiVAR_079989552D → E Found in a patient with early onset epileptic encephalopathy; changed localization to the cell membrane; decreased glutamate-gated calcium ion channel activity. 3 Publications1
Natural variantiVAR_079990556 – 938Missing Found in a patient with fatal epileptic encephalopathy; loss of function in calcium ion transmembrane import into cytosol. 1 PublicationAdd BLAST383
Natural variantiVAR_079991557P → R in NDHMSD; changed localization to the cell membrane; loss of glutamate-gated calcium ion channel activity. 3 PublicationsCorresponds to variant dbSNP:rs878853143Ensembl.1
Natural variantiVAR_066597560S → SS in NDHMSD; 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 Publication1
Natural variantiVAR_079992618G → R in NDHMSD; loss of function in calcium ion transmembrane import into cytosol. 1 Publication1
Natural variantiVAR_079993620G → R in NDHMSD; loss of function in calcium ion transmembrane import into cytosol. 1 PublicationCorresponds to variant dbSNP:rs797045047Ensembl.1
Natural variantiVAR_079994641M → I Found in a patient with early onset epileptic encephalopathy; unknown pathological significance. 1 Publication1
Natural variantiVAR_079995645A → S in NDHMSD; unknown pathological significance; no effect on glutamate-gated calcium ion channel activity. 1 Publication1
Natural variantiVAR_079996647Y → S in NDHMSD; loss of glutamate-gated calcium ion channel activity. 1 Publication1
Natural variantiVAR_079997650N → K Found in a patient with early onset epileptic encephalopathy; unknown pathological significance. 1 Publication1
Natural variantiVAR_066598662E → K in NDHMSD; 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 PublicationCorresponds to variant dbSNP:rs387906635Ensembl.1
Natural variantiVAR_069057682A → S1 PublicationCorresponds to variant dbSNP:rs1126448Ensembl.1
Natural variantiVAR_079998688S → Y in NDHMSD. 1 Publication1
Natural variantiVAR_079999815G → R in NDHMSD; also found in a patient with early onset epileptic encephalopathy; loss of glutamate-gated calcium ion channel activity. 2 PublicationsCorresponds to variant dbSNP:rs797044925Ensembl.1
Natural variantiVAR_080000815G → V in NDHMSD. 1 Publication1
Natural variantiVAR_080001817F → L in NDHMSD; decreased glutamate-gated calcium ion channel activity. 1 Publication1
Natural variantiVAR_080002827G → R in NDHMSD; loss of function in calcium ion transmembrane import into cytosol. 2 Publications1
Natural variantiVAR_080003844R → C in NDHMSD; no effect on glutamate-gated calcium ion channel activity. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_011777190K → KSKKRNYENLDQLSYDNKRG PK in isoform 5, isoform 6 and isoform 7. 2 Publications1
Alternative sequenceiVSP_045464864 – 938DRKSG…RHRES → QYHPTDITGPLNLSDPSVST VV in isoform 7. 1 PublicationAdd BLAST75
Alternative sequenceiVSP_000139864 – 900Missing in isoform 2. 1 PublicationAdd BLAST37
Alternative sequenceiVSP_000137864 – 885DRKSG…RAITS → QYHPTDITGPLNLSDPSVST VV in isoform 1. 2 PublicationsAdd BLAST22
Alternative sequenceiVSP_000138886 – 938Missing in isoform 1. 2 PublicationsAdd BLAST53
Alternative sequenceiVSP_011778901 – 922STGGG…PRRAI → QYHPTDITGPLNLSDPSVST VV in isoform 4 and isoform 6. 2 PublicationsAdd BLAST22
Alternative sequenceiVSP_011779923 – 938Missing in isoform 4 and isoform 6. 2 PublicationsAdd BLAST16

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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 No translation available.
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_005266071.3 [Q05586-4]
XP_005266130.1, XM_005266073.4 [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.4 human [Q05586-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

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 historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: June 1, 1994
Last modified: April 25, 2018
This is version 213 of the entry and version 1 of the sequence. See 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