NMD3B_HUMAN
ID NMD3B_HUMAN Reviewed; 1043 AA.
AC O60391; Q5EAK7; Q7RTW9;
DT 31-AUG-2004, integrated into UniProtKB/Swiss-Prot.
DT 19-JUL-2005, sequence version 2.
DT 03-AUG-2022, entry version 170.
DE RecName: Full=Glutamate receptor ionotropic, NMDA 3B;
DE Short=GluN3B;
DE AltName: Full=N-methyl-D-aspartate receptor subtype 3B;
DE Short=NMDAR3B;
DE Short=NR3B;
DE Flags: Precursor;
GN Name=GRIN3B;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [2]
RP IDENTIFICATION.
RX PubMed=11735224; DOI=10.1006/geno.2001.6666;
RA Andersson O., Stenqvist A., Attersand A., von Euler G.;
RT "Nucleotide sequence, genomic organization, and chromosomal localization of
RT genes encoding the human NMDA receptor subunits NR3A and NR3B.";
RL Genomics 78:178-184(2001).
RN [3]
RP IDENTIFICATION.
RX PubMed=11717388; DOI=10.1523/jneurosci.21-23-j0003.2001;
RA Nishi M., Hinds H., Lu H.-P., Kawata M., Hayashi Y.;
RT "Motoneuron-specific expression of NR3B, a novel NMDA-type glutamate
RT receptor subunit that works in a dominant-negative manner.";
RL J. Neurosci. 21:RC185.1-RC185.6(2001).
RN [4]
RP IDENTIFICATION.
RX PubMed=15722182; DOI=10.1016/j.neulet.2004.11.064;
RA Bendel O., Meijer B., Hurd Y., von Euler G.;
RT "Cloning and expression of the human NMDA receptor subunit NR3B in the
RT adult human hippocampus.";
RL Neurosci. Lett. 377:31-36(2005).
RN [5]
RP VARIANTS CYS-180; TRP-194; GLN-247; TRP-247; GLY-285; LYS-332; CYS-336;
RP HIS-350; LEU-381; HIS-470; PRO-472; SER-515; VAL-583; CYS-598; HIS-608;
RP MET-641; LEU-678; ASP-919; MET-928 AND VAL-948.
RX PubMed=22833210; DOI=10.1038/tp.2011.52;
RG S2D team;
RA Tarabeux J., Kebir O., Gauthier J., Hamdan F.F., Xiong L., Piton A.,
RA Spiegelman D., Henrion E., Millet B., Fathalli F., Joober R.,
RA Rapoport J.L., DeLisi L.E., Fombonne E., Mottron L., Forget-Dubois N.,
RA Boivin M., Michaud J.L., Drapeau P., Lafreniere R.G., Rouleau G.A.,
RA Krebs M.O.;
RT "Rare mutations in N-methyl-D-aspartate glutamate receptors in autism
RT spectrum disorders and schizophrenia.";
RL Transl. Psychiatry 1:E55-E55(2011).
CC -!- FUNCTION: NMDA receptor subtype of glutamate-gated ion channels with
CC reduced single-channel conductance, low calcium permeability and low
CC voltage-dependent sensitivity to magnesium. Mediated by glycine.
CC -!- SUBUNIT: Forms heteromeric channel of a zeta subunit (GRIN1), a epsilon
CC subunit (GRIN2A, GRIN2B, GRIN2C or GRIN2D) and a third subunit (GRIN3A
CC or GRIN3B). Does not form functional homomeric channels. Found in a
CC complex containing GRIN1 and GRIN2A (By similarity). {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane
CC protein {ECO:0000250}. Postsynaptic cell membrane {ECO:0000250}.
CC Note=Requires the presence of GRIN1 to be targeted at the plasma
CC membrane. {ECO:0000250}.
CC -!- SIMILARITY: Belongs to the glutamate-gated ion channel (TC 1.A.10.1)
CC family. NR3B/GRIN3B subfamily. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAC12680.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; AC004528; AAC12680.1; ALT_SEQ; Genomic_DNA.
DR EMBL; BK000070; DAA00018.1; -; mRNA.
DR EMBL; BK004079; DAA04570.1; -; mRNA.
DR CCDS; CCDS32861.1; -.
DR RefSeq; NP_619635.1; NM_138690.2.
DR AlphaFoldDB; O60391; -.
DR SMR; O60391; -.
DR BioGRID; 125509; 31.
DR STRING; 9606.ENSP00000234389; -.
DR ChEMBL; CHEMBL2094124; -.
DR DrugBank; DB00659; Acamprosate.
DR DrugBank; DB01238; Aripiprazole.
DR DrugBank; DB00289; Atomoxetine.
DR DrugBank; DB00843; Donepezil.
DR DrugBank; DB00228; Enflurane.
DR DrugBank; DB11823; Esketamine.
DR DrugBank; DB13146; Fluciclovine (18F).
DR DrugBank; DB06741; Gavestinel.
DR DrugBank; DB00145; Glycine.
DR DrugBank; DB00874; Guaifenesin.
DR DrugBank; DB01159; Halothane.
DR DrugBank; DB06738; Ketobemidone.
DR DrugBank; DB09409; Magnesium acetate tetrahydrate.
DR DrugBank; DB09481; Magnesium carbonate.
DR DrugBank; DB01043; Memantine.
DR DrugBank; DB00333; Methadone.
DR DrugBank; DB04896; Milnacipran.
DR DrugBank; DB01173; Orphenadrine.
DR DrugBank; DB00312; Pentobarbital.
DR DrugBank; DB01174; Phenobarbital.
DR DrugBank; DB01708; Prasterone.
DR DrugBank; DB00418; Secobarbital.
DR DrugBank; DB01520; Tenocyclidine.
DR DrugBank; DB00193; Tramadol.
DR DrugCentral; O60391; -.
DR GlyGen; O60391; 5 sites.
DR iPTMnet; O60391; -.
DR PhosphoSitePlus; O60391; -.
DR BioMuta; GRIN3B; -.
DR MassIVE; O60391; -.
DR PaxDb; O60391; -.
DR PeptideAtlas; O60391; -.
DR PRIDE; O60391; -.
DR ProteomicsDB; 49388; -.
DR Antibodypedia; 10301; 165 antibodies from 26 providers.
DR DNASU; 116444; -.
DR Ensembl; ENST00000234389.3; ENSP00000234389.3; ENSG00000116032.5.
DR GeneID; 116444; -.
DR KEGG; hsa:116444; -.
DR MANE-Select; ENST00000234389.3; ENSP00000234389.3; NM_138690.3; NP_619635.1.
DR UCSC; uc002lqo.2; human.
DR CTD; 116444; -.
DR DisGeNET; 116444; -.
DR GeneCards; GRIN3B; -.
DR HGNC; HGNC:16768; GRIN3B.
DR HPA; ENSG00000116032; Tissue enhanced (brain, fallopian tube).
DR MIM; 606651; gene.
DR neXtProt; NX_O60391; -.
DR OpenTargets; ENSG00000116032; -.
DR PharmGKB; PA28984; -.
DR VEuPathDB; HostDB:ENSG00000116032; -.
DR eggNOG; KOG1053; Eukaryota.
DR GeneTree; ENSGT00940000161021; -.
DR HOGENOM; CLU_002039_0_1_1; -.
DR InParanoid; O60391; -.
DR OMA; GSWRDGQ; -.
DR OrthoDB; 188544at2759; -.
DR PhylomeDB; O60391; -.
DR TreeFam; TF314731; -.
DR PathwayCommons; O60391; -.
DR Reactome; R-HSA-9609736; Assembly and cell surface presentation of NMDA receptors.
DR SignaLink; O60391; -.
DR BioGRID-ORCS; 116444; 15 hits in 1072 CRISPR screens.
DR ChiTaRS; GRIN3B; human.
DR GeneWiki; GRIN3B; -.
DR GenomeRNAi; 116444; -.
DR Pharos; O60391; Tclin.
DR PRO; PR:O60391; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; O60391; protein.
DR Bgee; ENSG00000116032; Expressed in right uterine tube and 88 other tissues.
DR Genevisible; O60391; HS.
DR GO; GO:0070161; C:anchoring junction; IEA:UniProtKB-KW.
DR GO; GO:0043025; C:neuronal cell body; ISS:UniProtKB.
DR GO; GO:0017146; C:NMDA selective glutamate receptor complex; ISS:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR GO; GO:0045211; C:postsynaptic membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005262; F:calcium channel activity; IEA:Ensembl.
DR GO; GO:0005261; F:cation channel activity; ISS:UniProtKB.
DR GO; GO:0016594; F:glycine binding; ISS:UniProtKB.
DR GO; GO:0004970; F:ionotropic glutamate receptor activity; IEA:InterPro.
DR GO; GO:0015276; F:ligand-gated ion channel activity; IBA:GO_Central.
DR GO; GO:0042165; F:neurotransmitter binding; ISS:UniProtKB.
DR GO; GO:0030594; F:neurotransmitter receptor activity; ISS:UniProtKB.
DR GO; GO:0038023; F:signaling receptor activity; IBA:GO_Central.
DR GO; GO:0035235; P:ionotropic glutamate receptor signaling pathway; ISS:UniProtKB.
DR GO; GO:0051205; P:protein insertion into membrane; ISS:UniProtKB.
DR GO; GO:0051924; P:regulation of calcium ion transport; ISS:UniProtKB.
DR InterPro; IPR019594; Glu/Gly-bd.
DR InterPro; IPR001508; Iono_rcpt_met.
DR InterPro; IPR001320; Iontro_rcpt.
DR InterPro; IPR028082; Peripla_BP_I.
DR Pfam; PF00060; Lig_chan; 1.
DR Pfam; PF10613; Lig_chan-Glu_bd; 1.
DR PRINTS; PR00177; NMDARECEPTOR.
DR SMART; SM00918; Lig_chan-Glu_bd; 1.
DR SMART; SM00079; PBPe; 1.
DR SUPFAM; SSF53822; SSF53822; 1.
PE 2: Evidence at transcript level;
KW Calcium; Cell membrane; Glycoprotein; Ion channel; Ion transport;
KW Ligand-gated ion channel; Magnesium; Membrane; Postsynaptic cell membrane;
KW Receptor; Reference proteome; Signal; Synapse; Transmembrane;
KW Transmembrane helix; Transport.
FT SIGNAL 1..22
FT /evidence="ECO:0000255"
FT CHAIN 23..1043
FT /note="Glutamate receptor ionotropic, NMDA 3B"
FT /id="PRO_0000011570"
FT TOPO_DOM 23..564
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 565..585
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 586..648
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 649..669
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 670..830
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 831..851
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 852..1043
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT REGION 882..924
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1012..1043
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 885..899
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 902..917
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 69
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 344
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 451
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 465
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 786
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VARIANT 157
FT /note="T -> M (in dbSNP:rs2240154)"
FT /id="VAR_019676"
FT VARIANT 180
FT /note="R -> C (in dbSNP:rs201484790)"
FT /evidence="ECO:0000269|PubMed:22833210"
FT /id="VAR_079909"
FT VARIANT 194
FT /note="R -> W (in dbSNP:rs199717057)"
FT /evidence="ECO:0000269|PubMed:22833210"
FT /id="VAR_079910"
FT VARIANT 247
FT /note="R -> Q (in dbSNP:rs370645758)"
FT /evidence="ECO:0000269|PubMed:22833210"
FT /id="VAR_079911"
FT VARIANT 247
FT /note="R -> W (in dbSNP:rs143106549)"
FT /evidence="ECO:0000269|PubMed:22833210"
FT /id="VAR_079912"
FT VARIANT 285
FT /note="A -> G (found in a patient with autism spectrum
FT disorder; unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:22833210"
FT /id="VAR_079913"
FT VARIANT 332
FT /note="E -> K (in dbSNP:rs200777913)"
FT /evidence="ECO:0000269|PubMed:22833210"
FT /id="VAR_079914"
FT VARIANT 336
FT /note="R -> C (found in a patient with schizophrenia;
FT unknown pathological significance; dbSNP:rs1043645806)"
FT /evidence="ECO:0000269|PubMed:22833210"
FT /id="VAR_079915"
FT VARIANT 350
FT /note="R -> H (in dbSNP:rs144334537)"
FT /evidence="ECO:0000269|PubMed:22833210"
FT /id="VAR_079916"
FT VARIANT 381
FT /note="P -> L (found in a patient with schizophrenia;
FT unknown pathological significance; dbSNP:rs935843296)"
FT /evidence="ECO:0000269|PubMed:22833210"
FT /id="VAR_079917"
FT VARIANT 404
FT /note="R -> W (in dbSNP:rs4807399)"
FT /id="VAR_019677"
FT VARIANT 414
FT /note="W -> R (in dbSNP:rs2240157)"
FT /id="VAR_019678"
FT VARIANT 470
FT /note="R -> H (found in a patient with schizophrenia;
FT unknown pathological significance; dbSNP:rs1253903191)"
FT /evidence="ECO:0000269|PubMed:22833210"
FT /id="VAR_079918"
FT VARIANT 472
FT /note="L -> P (found in a patient with autism spectrum
FT disorder; unknown pathological significance;
FT dbSNP:rs1599457596)"
FT /evidence="ECO:0000269|PubMed:22833210"
FT /id="VAR_079919"
FT VARIANT 515
FT /note="G -> S (in dbSNP:rs375104717)"
FT /evidence="ECO:0000269|PubMed:22833210"
FT /id="VAR_079920"
FT VARIANT 577
FT /note="T -> M (in dbSNP:rs2240158)"
FT /id="VAR_019679"
FT VARIANT 583
FT /note="A -> V (in dbSNP:rs769335041)"
FT /evidence="ECO:0000269|PubMed:22833210"
FT /id="VAR_079921"
FT VARIANT 598
FT /note="R -> C (in dbSNP:rs139187576)"
FT /evidence="ECO:0000269|PubMed:22833210"
FT /id="VAR_079922"
FT VARIANT 608
FT /note="R -> H (in dbSNP:rs540348423)"
FT /evidence="ECO:0000269|PubMed:22833210"
FT /id="VAR_079923"
FT VARIANT 612
FT /note="T -> A (in dbSNP:rs60621387)"
FT /id="VAR_061188"
FT VARIANT 641
FT /note="T -> M (found in a patient with autism spectrum
FT disorder; unknown pathological significance;
FT dbSNP:rs778377243)"
FT /evidence="ECO:0000269|PubMed:22833210"
FT /id="VAR_079924"
FT VARIANT 678
FT /note="S -> L (in dbSNP:rs138448790)"
FT /evidence="ECO:0000269|PubMed:22833210"
FT /id="VAR_079925"
FT VARIANT 845
FT /note="A -> T (in dbSNP:rs2285906)"
FT /id="VAR_019680"
FT VARIANT 919
FT /note="E -> D (found in a patient with autism spectrum
FT disorder; unknown pathological significance;
FT dbSNP:rs750024778)"
FT /evidence="ECO:0000269|PubMed:22833210"
FT /id="VAR_079926"
FT VARIANT 928
FT /note="V -> M (in dbSNP:rs200419950)"
FT /evidence="ECO:0000269|PubMed:22833210"
FT /id="VAR_079927"
FT VARIANT 948
FT /note="A -> V (found in a patient with schizophrenia;
FT unknown pathological significance; dbSNP:rs769956227)"
FT /evidence="ECO:0000269|PubMed:22833210"
FT /id="VAR_079928"
SQ SEQUENCE 1043 AA; 112992 MW; B7DEB2BEECD6AFEC CRC64;
MEFVRALWLG LALALGPGSA GGHPQPCGVL ARLGGSVRLG ALLPRAPLAR ARARAALARA
ALAPRLPHNL SLELVVAAPP ARDPASLTRG LCQALVPPGV AALLAFPEAR PELLQLHFLA
AATETPVLSL LRREARAPLG APNPFHLQLH WASPLETLLD VLVAVLQAHA WEDVGLALCR
TQDPGGLVAL WTSRAGRPPQ LVLDLSRRDT GDAGLRARLA PMAAPVGGEA PVPAAVLLGC
DIARARRVLE AVPPGPHWLL GTPLPPKALP TAGLPPGLLA LGEVARPPLE AAIHDIVQLV
ARALGSAAQV QPKRALLPAP VNCGDLQPAG PESPGRFLAR FLANTSFQGR TGPVWVTGSS
QVHMSRHFKV WSLRRDPRGA PAWATVGSWR DGQLDLEPGG ASARPPPPQG AQVWPKLRVV
TLLEHPFVFA RDPDEDGQCP AGQLCLDPGT NDSATLDALF AALANGSAPR ALRKCCYGYC
IDLLERLAED TPFDFELYLV GDGKYGALRD GRWTGLVGDL LAGRAHMAVT SFSINSARSQ
VVDFTSPFFS TSLGIMVRAR DTASPIGAFM WPLHWSTWLG VFAALHLTAL FLTVYEWRSP
YGLTPRGRNR STVFSYSSAL NLCYAILFRR TVSSKTPKCP TGRLLMNLWA IFCLLVLSSY
TANLAAVMVG DKTFEELSGI HDPKLHHPAQ GFRFGTVWES SAEAYIKKSF PDMHAHMRRH
SAPTTPRGVA MLTSDPPKLN AFIMDKSLLD YEVSIDADCK LLTVGKPFAI EGYGIGLPQN
SPLTSNLSEF ISRYKSSGFI DLLHDKWYKM VPCGKRVFAV TETLQMSIYH FAGLFVLLCL
GLGSALLSSL GEHAFFRLAL PRIRKGSRLQ YWLHTSQKIH RALNTEPPEG SKEETAEAEP
SGPEVEQQQQ QQDQPTAPEG WKRARRAVDK ERRVRFLLEP AVVVAPEADA EAEAAPREGP
VWLCSYGRPP AARPTGAPQP GELQELERRI EVARERLRQA LVRRGQLLAQ LGDSARHRPR
RLLQARAAPA EAPPHSGRPG SQE
