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 13-FEB-2019, entry version 152. 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; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; 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., RA Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., RA Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., RA Caenepeel S., Carrano A.V., Caoile C., Chan Y.M., Christensen M., RA Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., RA Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., RA Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., RA Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., RA Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., RA Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., RA Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., RA Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., RA Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., RA Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., RA Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., RA 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 RT localization of genes encoding the human NMDA receptor subunits NR3A RT and NR3B."; RL Genomics 78:178-184(2001). RN [3] RP IDENTIFICATION. RX PubMed=11717388; 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; RP CYS-336; HIS-350; LEU-381; HIS-470; PRO-472; SER-515; VAL-583; RP CYS-598; HIS-608; 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 CC with reduced single-channel conductance, low calcium permeability CC and low voltage-dependent sensitivity to magnesium. Mediated by CC glycine. CC -!- SUBUNIT: Forms heteromeric channel of a zeta subunit (GRIN1), a CC epsilon subunit (GRIN2A, GRIN2B, GRIN2C or GRIN2D) and a third CC subunit (GRIN3A or GRIN3B). Does not form functional homomeric CC channels. Found in a complex containing GRIN1 and GRIN2A (By CC similarity). {ECO:0000250}. CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass CC membrane protein {ECO:0000250}. Cell junction, synapse, CC postsynaptic cell membrane {ECO:0000250}. Note=Requires the CC presence of GRIN1 to be targeted at the plasma membrane. CC {ECO:0000250}. CC -!- SIMILARITY: Belongs to the glutamate-gated ion channel (TC CC 1.A.10.1) family. NR3B/GRIN3B subfamily. {ECO:0000305}. CC -!- SEQUENCE CAUTION: CC Sequence=AAC12680.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC ----------------------------------------------------------------------- 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 UniGene; Hs.660378; -. DR ProteinModelPortal; O60391; -. DR BioGrid; 125509; 2. DR STRING; 9606.ENSP00000234389; -. DR ChEMBL; CHEMBL2094124; -. DR DrugBank; DB00659; Acamprosate. DR DrugBank; DB00289; Atomoxetine. DR DrugBank; DB00996; Gabapentin. DR DrugBank; DB06741; Gavestinel. DR DrugBank; DB00145; Glycine. DR DrugBank; DB01159; Halothane. DR DrugBank; DB06738; Ketobemidone. DR DrugBank; DB00142; L-Glutamic Acid. 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 iPTMnet; O60391; -. DR PhosphoSitePlus; O60391; -. DR BioMuta; GRIN3B; -. DR jPOST; O60391; -. DR PaxDb; O60391; -. DR PRIDE; O60391; -. DR ProteomicsDB; 49388; -. DR Ensembl; ENST00000234389; ENSP00000234389; ENSG00000116032. DR GeneID; 116444; -. DR KEGG; hsa:116444; -. DR UCSC; uc002lqo.2; human. DR CTD; 116444; -. DR DisGeNET; 116444; -. DR EuPathDB; HostDB:ENSG00000116032.5; -. DR GeneCards; GRIN3B; -. DR HGNC; HGNC:16768; GRIN3B. DR MIM; 606651; gene. DR neXtProt; NX_O60391; -. DR OpenTargets; ENSG00000116032; -. DR PharmGKB; PA28984; -. DR eggNOG; KOG1053; Eukaryota. DR eggNOG; ENOG410XNUR; LUCA. DR GeneTree; ENSGT00940000161021; -. DR HOGENOM; HOG000231528; -. DR HOVERGEN; HBG052634; -. DR InParanoid; O60391; -. DR KO; K05214; -. DR OMA; EHPFVFA; -. DR OrthoDB; 188544at2759; -. DR PhylomeDB; O60391; -. DR TreeFam; TF314731; -. DR SignaLink; O60391; -. DR ChiTaRS; GRIN3B; human. DR GeneWiki; GRIN3B; -. DR GenomeRNAi; 116444; -. DR PRO; PR:O60391; -. DR Proteomes; UP000005640; Chromosome 19. DR Bgee; ENSG00000116032; Expressed in 71 organ(s), highest expression level in right uterine tube. DR Genevisible; O60391; HS. DR GO; GO:0030054; C:cell 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:0042165; F:neurotransmitter binding; ISS:UniProtKB. DR GO; GO:0030594; F:neurotransmitter receptor activity; ISS:UniProtKB. 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 junction; Cell membrane; Complete proteome; KW Glycoprotein; Ion channel; Ion transport; Ligand-gated ion channel; KW Magnesium; Membrane; Polymorphism; Postsynaptic cell membrane; KW Receptor; Reference proteome; Signal; Synapse; Transmembrane; KW Transmembrane helix; Transport. FT SIGNAL 1 22 {ECO:0000255}. FT CHAIN 23 1043 Glutamate receptor ionotropic, NMDA 3B. FT /FTId=PRO_0000011570. FT TOPO_DOM 23 564 Extracellular. {ECO:0000255}. FT TRANSMEM 565 585 Helical. {ECO:0000255}. FT TOPO_DOM 586 648 Cytoplasmic. {ECO:0000255}. FT TRANSMEM 649 669 Helical. {ECO:0000255}. FT TOPO_DOM 670 830 Extracellular. {ECO:0000255}. FT TRANSMEM 831 851 Helical. {ECO:0000255}. FT TOPO_DOM 852 1043 Cytoplasmic. {ECO:0000255}. FT CARBOHYD 69 69 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 344 344 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 451 451 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 465 465 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 786 786 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT VARIANT 157 157 T -> M (in dbSNP:rs2240154). FT /FTId=VAR_019676. FT VARIANT 180 180 R -> C (in dbSNP:rs201484790). FT {ECO:0000269|PubMed:22833210}. FT /FTId=VAR_079909. FT VARIANT 194 194 R -> W (in dbSNP:rs199717057). FT {ECO:0000269|PubMed:22833210}. FT /FTId=VAR_079910. FT VARIANT 247 247 R -> Q (in dbSNP:rs370645758). FT {ECO:0000269|PubMed:22833210}. FT /FTId=VAR_079911. FT VARIANT 247 247 R -> W (in dbSNP:rs143106549). FT {ECO:0000269|PubMed:22833210}. FT /FTId=VAR_079912. FT VARIANT 285 285 A -> G (found in a patient with autism FT spectrum disorder; unknown pathological FT significance). FT {ECO:0000269|PubMed:22833210}. FT /FTId=VAR_079913. FT VARIANT 332 332 E -> K (in dbSNP:rs200777913). FT {ECO:0000269|PubMed:22833210}. FT /FTId=VAR_079914. FT VARIANT 336 336 R -> C (found in a patient with FT schizophrenia; unknown pathological FT significance; dbSNP:rs1043645806). FT {ECO:0000269|PubMed:22833210}. FT /FTId=VAR_079915. FT VARIANT 350 350 R -> H (in dbSNP:rs144334537). FT {ECO:0000269|PubMed:22833210}. FT /FTId=VAR_079916. FT VARIANT 381 381 P -> L (found in a patient with FT schizophrenia; unknown pathological FT significance; dbSNP:rs935843296). FT {ECO:0000269|PubMed:22833210}. FT /FTId=VAR_079917. FT VARIANT 404 404 R -> W (in dbSNP:rs4807399). FT /FTId=VAR_019677. FT VARIANT 414 414 W -> R (in dbSNP:rs2240157). FT /FTId=VAR_019678. FT VARIANT 470 470 R -> H (found in a patient with FT schizophrenia; unknown pathological FT significance; dbSNP:rs1253903191). FT {ECO:0000269|PubMed:22833210}. FT /FTId=VAR_079918. FT VARIANT 472 472 L -> P (found in a patient with autism FT spectrum disorder; unknown pathological FT significance). FT {ECO:0000269|PubMed:22833210}. FT /FTId=VAR_079919. FT VARIANT 515 515 G -> S (in dbSNP:rs375104717). FT {ECO:0000269|PubMed:22833210}. FT /FTId=VAR_079920. FT VARIANT 577 577 T -> M (in dbSNP:rs2240158). FT /FTId=VAR_019679. FT VARIANT 583 583 A -> V (in dbSNP:rs769335041). FT {ECO:0000269|PubMed:22833210}. FT /FTId=VAR_079921. FT VARIANT 598 598 R -> C (in dbSNP:rs139187576). FT {ECO:0000269|PubMed:22833210}. FT /FTId=VAR_079922. FT VARIANT 608 608 R -> H (in dbSNP:rs540348423). FT {ECO:0000269|PubMed:22833210}. FT /FTId=VAR_079923. FT VARIANT 612 612 T -> A (in dbSNP:rs60621387). FT /FTId=VAR_061188. FT VARIANT 641 641 T -> M (found in a patient with autism FT spectrum disorder; unknown pathological FT significance; dbSNP:rs778377243). FT {ECO:0000269|PubMed:22833210}. FT /FTId=VAR_079924. FT VARIANT 678 678 S -> L (in dbSNP:rs138448790). FT {ECO:0000269|PubMed:22833210}. FT /FTId=VAR_079925. FT VARIANT 845 845 A -> T (in dbSNP:rs2285906). FT /FTId=VAR_019680. FT VARIANT 919 919 E -> D (found in a patient with autism FT spectrum disorder; unknown pathological FT significance; dbSNP:rs750024778). FT {ECO:0000269|PubMed:22833210}. FT /FTId=VAR_079926. FT VARIANT 928 928 V -> M (in dbSNP:rs200419950). FT {ECO:0000269|PubMed:22833210}. FT /FTId=VAR_079927. FT VARIANT 948 948 A -> V (found in a patient with FT schizophrenia; unknown pathological FT significance; dbSNP:rs769956227). FT {ECO:0000269|PubMed:22833210}. FT /FTId=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 //