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Glutamate receptor ionotropic, NMDA 3B (GluN3B) (N-methyl-D-aspartate receptor subtype 3B) (NMDAR3B) (NR3B)

 NMD3B_HUMAN             Reviewed;        1043 AA.
O60391; Q5EAK7; Q7RTW9;
31-AUG-2004, integrated into UniProtKB/Swiss-Prot.
19-JUL-2005, sequence version 2.
05-DEC-2018, entry version 150.
RecName: Full=Glutamate receptor ionotropic, NMDA 3B;
Short=GluN3B;
AltName: Full=N-methyl-D-aspartate receptor subtype 3B;
Short=NMDAR3B;
Short=NR3B;
Flags: Precursor;
Name=GRIN3B;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15057824; DOI=10.1038/nature02399;
Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J.,
Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M.,
Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E.,
Caenepeel S., Carrano A.V., Caoile C., Chan Y.M., Christensen M.,
Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C.,
Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M.,
Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T.,
Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H.,
Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S.,
Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J.,
Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M.,
Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J.,
Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D.,
Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A.,
Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I.,
Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
Rubin E.M., Lucas S.M.;
"The DNA sequence and biology of human chromosome 19.";
Nature 428:529-535(2004).
[2]
IDENTIFICATION.
PubMed=11735224; DOI=10.1006/geno.2001.6666;
Andersson O., Stenqvist A., Attersand A., von Euler G.;
"Nucleotide sequence, genomic organization, and chromosomal
localization of genes encoding the human NMDA receptor subunits NR3A
and NR3B.";
Genomics 78:178-184(2001).
[3]
IDENTIFICATION.
PubMed=11717388;
Nishi M., Hinds H., Lu H.-P., Kawata M., Hayashi Y.;
"Motoneuron-specific expression of NR3B, a novel NMDA-type glutamate
receptor subunit that works in a dominant-negative manner.";
J. Neurosci. 21:RC185.1-RC185.6(2001).
[4]
IDENTIFICATION.
PubMed=15722182; DOI=10.1016/j.neulet.2004.11.064;
Bendel O., Meijer B., Hurd Y., von Euler G.;
"Cloning and expression of the human NMDA receptor subunit NR3B in the
adult human hippocampus.";
Neurosci. Lett. 377:31-36(2005).
[5]
VARIANTS CYS-180; TRP-194; GLN-247; TRP-247; GLY-285; LYS-332;
CYS-336; HIS-350; LEU-381; HIS-470; PRO-472; SER-515; VAL-583;
CYS-598; HIS-608; MET-641; LEU-678; ASP-919; MET-928 AND VAL-948.
PubMed=22833210; DOI=10.1038/tp.2011.52;
S2D team;
Tarabeux J., Kebir O., Gauthier J., Hamdan F.F., Xiong L., Piton A.,
Spiegelman D., Henrion E., Millet B., Fathalli F., Joober R.,
Rapoport J.L., DeLisi L.E., Fombonne E., Mottron L., Forget-Dubois N.,
Boivin M., Michaud J.L., Drapeau P., Lafreniere R.G., Rouleau G.A.,
Krebs M.O.;
"Rare mutations in N-methyl-D-aspartate glutamate receptors in autism
spectrum disorders and schizophrenia.";
Transl. Psychiatry 1:E55-E55(2011).
-!- FUNCTION: NMDA receptor subtype of glutamate-gated ion channels
with reduced single-channel conductance, low calcium permeability
and low voltage-dependent sensitivity to magnesium. Mediated by
glycine.
-!- SUBUNIT: Forms heteromeric channel of a zeta subunit (GRIN1), a
epsilon subunit (GRIN2A, GRIN2B, GRIN2C or GRIN2D) and a third
subunit (GRIN3A or GRIN3B). Does not form functional homomeric
channels. Found in a complex containing GRIN1 and GRIN2A (By
similarity). {ECO:0000250}.
-!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass
membrane protein {ECO:0000250}. Cell junction, synapse,
postsynaptic cell membrane {ECO:0000250}. Note=Requires the
presence of GRIN1 to be targeted at the plasma membrane.
{ECO:0000250}.
-!- SIMILARITY: Belongs to the glutamate-gated ion channel (TC
1.A.10.1) family. NR3B/GRIN3B subfamily. {ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=AAC12680.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
-----------------------------------------------------------------------
Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
Distributed under the Creative Commons Attribution (CC BY 4.0) License
-----------------------------------------------------------------------
EMBL; AC004528; AAC12680.1; ALT_SEQ; Genomic_DNA.
EMBL; BK000070; DAA00018.1; -; mRNA.
EMBL; BK004079; DAA04570.1; -; mRNA.
CCDS; CCDS32861.1; -.
RefSeq; NP_619635.1; NM_138690.2.
UniGene; Hs.660378; -.
ProteinModelPortal; O60391; -.
SMR; O60391; -.
BioGrid; 125509; 2.
STRING; 9606.ENSP00000234389; -.
ChEMBL; CHEMBL2094124; -.
DrugBank; DB00659; Acamprosate.
DrugBank; DB00289; Atomoxetine.
DrugBank; DB00996; Gabapentin.
DrugBank; DB06741; Gavestinel.
DrugBank; DB00145; Glycine.
DrugBank; DB01159; Halothane.
DrugBank; DB06738; Ketobemidone.
DrugBank; DB00142; L-Glutamic Acid.
DrugBank; DB04896; Milnacipran.
DrugBank; DB01173; Orphenadrine.
DrugBank; DB00312; Pentobarbital.
DrugBank; DB01174; Phenobarbital.
DrugBank; DB01708; Prasterone.
DrugBank; DB00418; Secobarbital.
DrugBank; DB01520; Tenocyclidine.
iPTMnet; O60391; -.
PhosphoSitePlus; O60391; -.
BioMuta; GRIN3B; -.
PaxDb; O60391; -.
PRIDE; O60391; -.
ProteomicsDB; 49388; -.
Ensembl; ENST00000234389; ENSP00000234389; ENSG00000116032.
GeneID; 116444; -.
KEGG; hsa:116444; -.
UCSC; uc002lqo.2; human.
CTD; 116444; -.
DisGeNET; 116444; -.
EuPathDB; HostDB:ENSG00000116032.5; -.
GeneCards; GRIN3B; -.
HGNC; HGNC:16768; GRIN3B.
MIM; 606651; gene.
neXtProt; NX_O60391; -.
OpenTargets; ENSG00000116032; -.
PharmGKB; PA28984; -.
eggNOG; KOG1053; Eukaryota.
eggNOG; ENOG410XNUR; LUCA.
GeneTree; ENSGT00940000161021; -.
HOGENOM; HOG000231528; -.
HOVERGEN; HBG052634; -.
InParanoid; O60391; -.
KO; K05214; -.
OMA; EHPFVFA; -.
OrthoDB; EOG091G00PT; -.
PhylomeDB; O60391; -.
TreeFam; TF314731; -.
SignaLink; O60391; -.
ChiTaRS; GRIN3B; human.
GeneWiki; GRIN3B; -.
GenomeRNAi; 116444; -.
PRO; PR:O60391; -.
Proteomes; UP000005640; Chromosome 19.
Bgee; ENSG00000116032; Expressed in 71 organ(s), highest expression level in right uterine tube.
CleanEx; HS_GRIN3B; -.
Genevisible; O60391; HS.
GO; GO:0030054; C:cell junction; IEA:UniProtKB-KW.
GO; GO:0043025; C:neuronal cell body; ISS:UniProtKB.
GO; GO:0017146; C:NMDA selective glutamate receptor complex; ISS:UniProtKB.
GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
GO; GO:0045211; C:postsynaptic membrane; IEA:UniProtKB-SubCell.
GO; GO:0005262; F:calcium channel activity; IEA:Ensembl.
GO; GO:0005261; F:cation channel activity; ISS:UniProtKB.
GO; GO:0016594; F:glycine binding; ISS:UniProtKB.
GO; GO:0004970; F:ionotropic glutamate receptor activity; IEA:InterPro.
GO; GO:0042165; F:neurotransmitter binding; ISS:UniProtKB.
GO; GO:0030594; F:neurotransmitter receptor activity; ISS:UniProtKB.
GO; GO:0035235; P:ionotropic glutamate receptor signaling pathway; ISS:UniProtKB.
GO; GO:0051205; P:protein insertion into membrane; ISS:UniProtKB.
GO; GO:0051924; P:regulation of calcium ion transport; ISS:UniProtKB.
InterPro; IPR019594; Glu/Gly-bd.
InterPro; IPR001508; Iono_rcpt_met.
InterPro; IPR001320; Iontro_rcpt.
InterPro; IPR028082; Peripla_BP_I.
Pfam; PF00060; Lig_chan; 1.
Pfam; PF10613; Lig_chan-Glu_bd; 1.
PRINTS; PR00177; NMDARECEPTOR.
SMART; SM00918; Lig_chan-Glu_bd; 1.
SMART; SM00079; PBPe; 1.
SUPFAM; SSF53822; SSF53822; 1.
2: Evidence at transcript level;
Calcium; Cell junction; Cell membrane; Complete proteome;
Glycoprotein; Ion channel; Ion transport; Ligand-gated ion channel;
Magnesium; Membrane; Polymorphism; Postsynaptic cell membrane;
Receptor; Reference proteome; Signal; Synapse; Transmembrane;
Transmembrane helix; Transport.
SIGNAL 1 22 {ECO:0000255}.
CHAIN 23 1043 Glutamate receptor ionotropic, NMDA 3B.
/FTId=PRO_0000011570.
TOPO_DOM 23 564 Extracellular. {ECO:0000255}.
TRANSMEM 565 585 Helical. {ECO:0000255}.
TOPO_DOM 586 648 Cytoplasmic. {ECO:0000255}.
TRANSMEM 649 669 Helical. {ECO:0000255}.
TOPO_DOM 670 830 Extracellular. {ECO:0000255}.
TRANSMEM 831 851 Helical. {ECO:0000255}.
TOPO_DOM 852 1043 Cytoplasmic. {ECO:0000255}.
CARBOHYD 69 69 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 344 344 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 451 451 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 465 465 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 786 786 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
VARIANT 157 157 T -> M (in dbSNP:rs2240154).
/FTId=VAR_019676.
VARIANT 180 180 R -> C (in dbSNP:rs201484790).
{ECO:0000269|PubMed:22833210}.
/FTId=VAR_079909.
VARIANT 194 194 R -> W (in dbSNP:rs199717057).
{ECO:0000269|PubMed:22833210}.
/FTId=VAR_079910.
VARIANT 247 247 R -> Q (in dbSNP:rs370645758).
{ECO:0000269|PubMed:22833210}.
/FTId=VAR_079911.
VARIANT 247 247 R -> W (in dbSNP:rs143106549).
{ECO:0000269|PubMed:22833210}.
/FTId=VAR_079912.
VARIANT 285 285 A -> G (found in a patient with autism
spectrum disorder; unknown pathological
significance).
{ECO:0000269|PubMed:22833210}.
/FTId=VAR_079913.
VARIANT 332 332 E -> K (in dbSNP:rs200777913).
{ECO:0000269|PubMed:22833210}.
/FTId=VAR_079914.
VARIANT 336 336 R -> C (found in a patient with
schizophrenia; unknown pathological
significance; dbSNP:rs1043645806).
{ECO:0000269|PubMed:22833210}.
/FTId=VAR_079915.
VARIANT 350 350 R -> H (in dbSNP:rs144334537).
{ECO:0000269|PubMed:22833210}.
/FTId=VAR_079916.
VARIANT 381 381 P -> L (found in a patient with
schizophrenia; unknown pathological
significance; dbSNP:rs935843296).
{ECO:0000269|PubMed:22833210}.
/FTId=VAR_079917.
VARIANT 404 404 R -> W (in dbSNP:rs4807399).
/FTId=VAR_019677.
VARIANT 414 414 W -> R (in dbSNP:rs2240157).
/FTId=VAR_019678.
VARIANT 470 470 R -> H (found in a patient with
schizophrenia; unknown pathological
significance; dbSNP:rs1253903191).
{ECO:0000269|PubMed:22833210}.
/FTId=VAR_079918.
VARIANT 472 472 L -> P (found in a patient with autism
spectrum disorder; unknown pathological
significance).
{ECO:0000269|PubMed:22833210}.
/FTId=VAR_079919.
VARIANT 515 515 G -> S (in dbSNP:rs375104717).
{ECO:0000269|PubMed:22833210}.
/FTId=VAR_079920.
VARIANT 577 577 T -> M (in dbSNP:rs2240158).
/FTId=VAR_019679.
VARIANT 583 583 A -> V (in dbSNP:rs769335041).
{ECO:0000269|PubMed:22833210}.
/FTId=VAR_079921.
VARIANT 598 598 R -> C (in dbSNP:rs139187576).
{ECO:0000269|PubMed:22833210}.
/FTId=VAR_079922.
VARIANT 608 608 R -> H (in dbSNP:rs540348423).
{ECO:0000269|PubMed:22833210}.
/FTId=VAR_079923.
VARIANT 612 612 T -> A (in dbSNP:rs60621387).
/FTId=VAR_061188.
VARIANT 641 641 T -> M (found in a patient with autism
spectrum disorder; unknown pathological
significance; dbSNP:rs778377243).
{ECO:0000269|PubMed:22833210}.
/FTId=VAR_079924.
VARIANT 678 678 S -> L (in dbSNP:rs138448790).
{ECO:0000269|PubMed:22833210}.
/FTId=VAR_079925.
VARIANT 845 845 A -> T (in dbSNP:rs2285906).
/FTId=VAR_019680.
VARIANT 919 919 E -> D (found in a patient with autism
spectrum disorder; unknown pathological
significance; dbSNP:rs750024778).
{ECO:0000269|PubMed:22833210}.
/FTId=VAR_079926.
VARIANT 928 928 V -> M (in dbSNP:rs200419950).
{ECO:0000269|PubMed:22833210}.
/FTId=VAR_079927.
VARIANT 948 948 A -> V (found in a patient with
schizophrenia; unknown pathological
significance; dbSNP:rs769956227).
{ECO:0000269|PubMed:22833210}.
/FTId=VAR_079928.
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


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