ENSG00000176884


Homo sapiens

Features
Gene ID: ENSG00000176884
  
Biological name :GRIN1
  
Synonyms : glutamate ionotropic receptor NMDA type subunit 1 / GRIN1 / Q05586
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 9
Strand: 1
Band: q34.3
Gene start: 137138390
Gene end: 137168762
  
Corresponding Affymetrix probe sets: 205914_s_at (Human Genome U133 Plus 2.0 Array)   205915_x_at (Human Genome U133 Plus 2.0 Array)   210781_x_at (Human Genome U133 Plus 2.0 Array)   210782_x_at (Human Genome U133 Plus 2.0 Array)   211125_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000360615
Ensembl peptide - ENSP00000360614
Ensembl peptide - ENSP00000360616
Ensembl peptide - ENSP00000316915
Ensembl peptide - ENSP00000360601
Ensembl peptide - ENSP00000360605
Ensembl peptide - ENSP00000360608
Ensembl peptide - ENSP00000360610
NCBI entrez gene - 2902     See in Manteia.
OMIM - 138249
RefSeq - XM_011518583
RefSeq - NM_000832
RefSeq - NM_001185090
RefSeq - NM_001185091
RefSeq - NM_007327
RefSeq - NM_021569
RefSeq - XM_005266071
RefSeq - XM_005266072
RefSeq - XM_005266073
RefSeq Peptide - NP_015566
RefSeq Peptide - NP_067544
RefSeq Peptide - NP_000823
RefSeq Peptide - NP_001172019
RefSeq Peptide - NP_001172020
swissprot - Q05586
swissprot - Q5VSF9
swissprot - A2AVK2
Ensembl - ENSG00000176884
  
Related genetic diseases (OMIM): 614254 - Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254
  617820 - Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 grin1aENSDARG00000027828Danio rerio
 grin1bENSDARG00000025728Danio rerio
 GRIN1ENSGALG00000008898Gallus gallus
 Grin1ENSMUSG00000026959Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
GRIN2A / Q12879 / glutamate ionotropic receptor NMDA type subunit 2AENSG0000018345425
GRIN2B / Q13224 / glutamate ionotropic receptor NMDA type subunit 2BENSG0000027307925
GRIN2D / O15399 / glutamate ionotropic receptor NMDA type subunit 2DENSG0000010546423
GRIN2C / Q14957 / glutamate ionotropic receptor NMDA type subunit 2CENSG0000016150923
GRIN3A / Q8TCU5 / glutamate ionotropic receptor NMDA type subunit 3AENSG0000019878523
GRIN3B / O60391 / glutamate ionotropic receptor NMDA type subunit 3BENSG0000011603222
GRIK5 / Q16478 / glutamate ionotropic receptor kainate type subunit 5ENSG0000010573721
GRIA2 / P42262 / glutamate ionotropic receptor AMPA type subunit 2ENSG0000012025120
GRIK4 / Q16099 / glutamate ionotropic receptor kainate type subunit 4ENSG0000014940320
GRID2 / O43424 / glutamate ionotropic receptor delta type subunit 2ENSG0000015220820
GRIK1 / P39086 / glutamate ionotropic receptor kainate type subunit 1ENSG0000017118920
GRIA3 / P42263 / glutamate ionotropic receptor AMPA type subunit 3ENSG0000012567519
GRIA4 / P48058 / glutamate ionotropic receptor AMPA type subunit 4ENSG0000015257819
GRIA1 / P42261 / glutamate ionotropic receptor AMPA type subunit 1ENSG0000015551119
GRIK3 / Q13003 / glutamate ionotropic receptor kainate type subunit 3ENSG0000016387319
GRIK2 / Q13002 / glutamate ionotropic receptor kainate type subunit 2ENSG0000016441819
GRID1 / Q9ULK0 / glutamate ionotropic receptor delta type subunit 1ENSG0000018277119


Protein motifs (from Interpro)
Interpro ID Name
 IPR001320  Ionotropic glutamate receptor
 IPR001508  Ionotropic glutamate receptor, metazoa
 IPR001828  Receptor, ligand binding region
 IPR018882  Calmodulin-binding domain C0, NMDA receptor, NR1 subunit
 IPR019594  Ionotropic glutamate receptor, L-glutamate and glycine-binding domain
 IPR028082  Periplasmic binding protein-like I


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000165 MAPK cascade TAS
 biological_processGO:0001661 conditioned taste aversion IEA
 biological_processGO:0001964 startle response IEA
 biological_processGO:0001967 suckling behavior IEA
 biological_processGO:0001975 response to amphetamine IEA
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006812 cation transport IDA
 biological_processGO:0006816 calcium ion transport IEA
 biological_processGO:0006874 cellular calcium ion homeostasis IEA
 biological_processGO:0007420 brain development NAS
 biological_processGO:0007585 respiratory gaseous exchange IEA
 biological_processGO:0007611 learning or memory IEA
 biological_processGO:0007612 learning IEA
 biological_processGO:0007613 memory IEA
 biological_processGO:0007616 long-term memory IEA
 biological_processGO:0008306 associative learning IEA
 biological_processGO:0008344 adult locomotory behavior IEA
 biological_processGO:0008355 olfactory learning IEA
 biological_processGO:0008542 visual learning ISS
 biological_processGO:0010524 positive regulation of calcium ion transport into cytosol ISS
 biological_processGO:0010646 regulation of cell communication IEA
 biological_processGO:0018964 propylene metabolic process ISS
 biological_processGO:0019233 sensory perception of pain IEA
 biological_processGO:0019722 calcium-mediated signaling IEA
 biological_processGO:0021586 pons maturation IEA
 biological_processGO:0021987 cerebral cortex development IEA
 biological_processGO:0034220 ion transmembrane transport IEA
 biological_processGO:0035176 social behavior IEA
 biological_processGO:0035235 ionotropic glutamate receptor signaling pathway ISS
 biological_processGO:0035249 synaptic transmission, glutamatergic IEA
 biological_processGO:0042391 regulation of membrane potential IDA
 biological_processGO:0043065 positive regulation of apoptotic process IEA
 biological_processGO:0043278 response to morphine IEA
 biological_processGO:0043523 regulation of neuron apoptotic process IEA
 biological_processGO:0043524 negative regulation of neuron apoptotic process IEA
 biological_processGO:0043576 regulation of respiratory gaseous exchange IEA
 biological_processGO:0045471 response to ethanol IDA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II ISS
 biological_processGO:0048013 ephrin receptor signaling pathway TAS
 biological_processGO:0048167 regulation of synaptic plasticity NAS
 biological_processGO:0048168 regulation of neuronal synaptic plasticity IEA
 biological_processGO:0048169 regulation of long-term neuronal synaptic plasticity IEA
 biological_processGO:0048814 regulation of dendrite morphogenesis IEA
 biological_processGO:0050770 regulation of axonogenesis IEA
 biological_processGO:0050905 neuromuscular process IEA
 biological_processGO:0051290 protein heterotetramerization ISS
 biological_processGO:0051963 regulation of synapse assembly IEA
 biological_processGO:0055074 calcium ion homeostasis ISS
 biological_processGO:0060079 excitatory postsynaptic potential ISS
 biological_processGO:0060134 prepulse inhibition IEA
 biological_processGO:0060179 male mating behavior IEA
 biological_processGO:0097553 calcium ion transmembrane import into cytosol IDA
 biological_processGO:0098976 excitatory chemical synaptic transmission NAS
 biological_processGO:1903428 positive regulation of reactive oxygen species biosynthetic process ISS
 biological_processGO:1903539 protein localization to postsynaptic membrane IEA
 biological_processGO:1905429 response to glycine IDA
 biological_processGO:2000463 positive regulation of excitatory postsynaptic potential ISS
 biological_processGO:2001056 positive regulation of cysteine-type endopeptidase activity ISS
 cellular_componentGO:0005622 intracellular ISS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane IDA
 cellular_componentGO:0008021 synaptic vesicle ISS
 cellular_componentGO:0009986 cell surface ISS
 cellular_componentGO:0014069 postsynaptic density ISS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0017146 NMDA selective glutamate receptor complex IDA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030425 dendrite IDA
 cellular_componentGO:0043005 neuron projection ISS
 cellular_componentGO:0043083 synaptic cleft ISS
 cellular_componentGO:0043195 terminal bouton ISS
 cellular_componentGO:0043197 dendritic spine ISS
 cellular_componentGO:0045202 synapse ISS
 cellular_componentGO:0045211 postsynaptic membrane ISS
 cellular_componentGO:0060076 excitatory synapse ISS
 cellular_componentGO:0097060 synaptic membrane ISS
 cellular_componentGO:0098839 postsynaptic density membrane IEA
 molecular_functionGO:0004970 ionotropic glutamate receptor activity IEA
 molecular_functionGO:0004972 NMDA glutamate receptor activity TAS
 molecular_functionGO:0005088 Ras guanyl-nucleotide exchange factor activity TAS
 molecular_functionGO:0005102 signaling receptor binding IEA
 molecular_functionGO:0005216 ion channel activity IEA
 molecular_functionGO:0005234 extracellularly glutamate-gated ion channel activity IEA
 molecular_functionGO:0005261 cation channel activity IEA
 molecular_functionGO:0005262 calcium channel activity IDA
 molecular_functionGO:0005509 calcium ion binding ISS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005516 calmodulin binding ISS
 molecular_functionGO:0016594 glycine binding IMP
 molecular_functionGO:0016595 glutamate binding IDA
 molecular_functionGO:0022849 glutamate-gated calcium ion channel activity IDA
 molecular_functionGO:0042165 neurotransmitter binding ISS
 molecular_functionGO:0044877 protein-containing complex binding ISS
 molecular_functionGO:1904315 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential IEA


Pathways (from Reactome)
Pathway description
EPHB-mediated forward signaling
Unblocking of NMDA receptor, glutamate binding and activation
CREB phosphorylation through the activation of CaMKII
Ras activation upon Ca2+ influx through NMDA receptor
RAF/MAP kinase cascade
Neurexins and neuroligins
Synaptic adhesion-like molecules


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0001249 Mental retardation 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000033122 LRRC7 / Q96NW7 / leucine rich repeat containing 7  / complex
 ENSG00000082458 DLG3 / Q92796 / discs large MAGUK scaffold protein 3  / complex / reaction
 ENSG00000113319 O14827 / RASGRF2 / Ras protein specific guanine nucleotide releasing factor 2  / complex / reaction
 ENSG00000120251 GRIA2 / P42262 / glutamate ionotropic receptor AMPA type subunit 2  / reaction
 ENSG00000058404 CAMK2B / Q13554 / calcium/calmodulin dependent protein kinase II beta  / complex / reaction
 ENSG00000155511 GRIA1 / P42261 / glutamate ionotropic receptor AMPA type subunit 1  / reaction
 ENSG00000152578 GRIA4 / P48058 / glutamate ionotropic receptor AMPA type subunit 4  / reaction
 ENSG00000150672 DLG2 / Q15700 / discs large MAGUK scaffold protein 2  / complex / reaction
 ENSG00000156299 TIAM1 / Q13009 / T cell lymphoma invasion and metastasis 1  / complex / reaction
 ENSG00000132535 DLG4 / P78352 / discs large MAGUK scaffold protein 4  / complex / reaction
 ENSG00000148660 CAMK2G / Q13555 / calcium/calmodulin dependent protein kinase II gamma  / complex / reaction
 ENSG00000145349 CAMK2D / Q13557 / calcium/calmodulin dependent protein kinase II delta  / complex / reaction
 ENSG00000183092 BEGAIN / Q9BUH8 / brain enriched guanylate kinase associated  / complex / reaction
 ENSG00000070808 CAMK2A / Q9UQM7 / calcium/calmodulin dependent protein kinase II alpha  / complex / reaction
 ENSG00000090776 EFNB1 / P98172 / ephrin B1  / complex / reaction
 ENSG00000010810 FYN / P06241 / FYN proto-oncogene, Src family tyrosine kinase  / complex / reaction
 ENSG00000108947 EFNB3 / Q15768 / ephrin B3  / complex / reaction
 ENSG00000125266 EFNB2 / P52799 / ephrin B2  / complex / reaction
 ENSG00000128011 LRFN1 / Q9P244 / leucine rich repeat and fibronectin type III domain containing 1  / complex / reaction
 ENSG00000105464 GRIN2D / O15399 / glutamate ionotropic receptor NMDA type subunit 2D  / complex
 ENSG00000174775 HRAS / P01112 / HRas proto-oncogene, GTPase  / reaction
 ENSG00000161509 GRIN2C / Q14957 / glutamate ionotropic receptor NMDA type subunit 2C  / complex
 ENSG00000163110 PDLIM5 / Q96HC4 / PDZ and LIM domain 5  / complex / reaction
 ENSG00000156564 LRFN2 / Q9ULH4 / leucine rich repeat and fibronectin type III domain containing 2  / complex / reaction
 ENSG00000176105 YES1 / P07947 / YES proto-oncogene 1, Src family tyrosine kinase  / complex / reaction
 ENSG00000183454 GRIN2A / Q12879 / glutamate ionotropic receptor NMDA type subunit 2A  / complex
 ENSG00000127914 AKAP9 / Q99996 / A-kinase anchoring protein 9  / complex
 ENSG00000176884 GRIN1 / Q05586 / glutamate ionotropic receptor NMDA type subunit 1  / complex
 ENSG00000198668 CALM1 / P0DP23 / calmodulin 1  / complex / reaction
 ENSG00000197122 SRC / P12931 / SRC proto-oncogene, non-receptor tyrosine kinase  / complex / reaction
 ENSG00000077522 ACTN2 / P35609 / actinin alpha 2  / complex
 ENSG00000254087 LYN / P07948 / LYN proto-oncogene, Src family tyrosine kinase  / complex / reaction
 ENSG00000277586 NEFL / P07196 / neurofilament light  / complex
 ENSG00000273079 GRIN2B / Q13224 / glutamate ionotropic receptor NMDA type subunit 2B  / complex
 ENSG00000075711 DLG1 / Q12959 / discs large MAGUK scaffold protein 1  / complex
 ENSG00000197555 O43166 / SIPA1L1 / signal induced proliferation associated 1 like 1  / complex / reaction
 ENSG00000058335 Q13972 / RASGRF1 / Ras protein specific guanine nucleotide releasing factor 1  / complex / reaction
 ENSG00000125675 GRIA3 / P42263 / glutamate ionotropic receptor AMPA type subunit 3  / reaction






 

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