GRIK1 (glutamate ionotropic receptor kainate type subunit 1)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2897
Gene name Gene Name - the full gene name approved by the HGNC.
Glutamate ionotropic receptor kainate type subunit 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GRIK1
Synonyms (NCBI Gene) Gene synonyms aliases
EAA3, EEA3, GLR5, GLUR5, GluK1, gluR-5
Chromosome Chromosome number
21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21q21.3
Summary Summary of gene provided in NCBI Entrez Gene.
Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are com
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
miRTarBase ID miRNA Experiments Reference
MIRT2006745 hsa-miR-377 CLIP-seq
MIRT2006746 hsa-miR-4742-3p CLIP-seq
MIRT2006747 hsa-miR-499-3p CLIP-seq
MIRT2006748 hsa-miR-499a-3p CLIP-seq
MIRT2006749 hsa-miR-630 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(32)
GO ID Ontology Definition Evidence Reference
GO:0004970 Function Glutamate-gated receptor activity IDA 8589992, 8730589
GO:0005216 Function Monoatomic ion channel activity IEA
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA
GO:0005886 Component Plasma membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
138245 4579 ENSG00000171189
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P39086
Protein name Glutamate receptor ionotropic, kainate 1 (GluK1) (Excitatory amino acid receptor 3) (EAA3) (Glutamate receptor 5) (GluR-5) (GluR5)
Protein function Ionotropic glutamate receptor that functions as a cation-permeable ligand-gated ion channel, gated by L-glutamate and the glutamatergic agonist kainic acid. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervo
PDB 2ZNS , 2ZNT , 2ZNU , 3FUZ , 3FV1 , 3FV2 , 3FVG , 3FVK , 3FVN , 3FVO , 4MF3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01094 ANF_receptor 53 → 399 Receptor family ligand binding region Family
PF10613 Lig_chan-Glu_bd 447 → 561 Ligated ion channel L-glutamate- and glycine-binding site Domain
PF00060 Lig_chan 575 → 846 Ligand-gated ion channel Family
Sequence 
MEHGTLLAQPGLWTRDTSWALLYFLCYILPQTAPQVLRIGGIFETVENEPVNVEELAFKF
AVTSINRNRTLMPNTTLTYDIQRINLFDSFEASRRACDQLALGVAALFGPSHSSSVSAVQ
SICNALEVPHIQTRWKHPSVDNKDLFYINLYPDYAAISRAILDLVLYYNWKTVTVVYEDS
TGLIRLQELIKAPSRYNIKIKIRQLPSGNKDAKPLLKEMKKGKEFYVIFDCSHETAAEIL
KQILFMGMMTEYYHYFFTTLDLFALDLELYRYSGVNMTGFRLLNIDNPHVSSIIEKWSME
RLQAPPRPETGLLDGMMTTEAALMYDAVYMVAIASHRASQLTVSSLQCHRHKPWRLGPRF
MNLIKEARWDGLTGHITFNKTNGLRKDFDLDIISLKEEGTEKAAGEVSKHLYKVWKKIGI
WNSNSGLNMTDSNKDKSSNITDSLANRTLIVTTILEEPYVMYRKSDKPLYGNDRFEGYCL
DLLKELSNILGFIYDVKLVPDGKYGAQNDKGEWNGMVKELIDHRADLAVAPLTITYVREK
VIDFSKPFMTLGISILYRKPNGTNPGVFSFLNPLSPDIWMYVLLACLGVSCVLFVIARFT
PYEWYNPHPCNPDSDVVENNFTLLNSFWFGVGALMQQGSELMPKALSTRIVGGIWWFFTL
IIISSYTANLAAFLTVERMESPIDSADDLAKQTKIEYGAVRDGSTMTFFKKSKISTYEKM
WAFMSSRQQTALVRNSDEGIQRVLTTDYALLMESTSIEYVTQRNCNLTQIGGLIDSKGYG
VGTPIGSPYRDKITIAILQLQEEGKLHMMKEKWWRGNGCPEEDNKEASALGVENIGGIFI
VLAAGLVLSVFVAIGEFIYKSRKNNDIEQAFCFFYGLQCKQTHPTNSTSGTTLSTDLECG
KLIREERGIRKQSSVHTV
Sequence length 918
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Neuroactive ligand-receptor interaction
Glutamatergic synapse 		  Activation of Na-permeable kainate receptors
Activation of Ca-permeable Kainate Receptor
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast cancer Breast cancer N/A N/A GWAS
Eosinophilia Eosinophilic esophagitis N/A N/A GWAS
Show/Hide Text Mining Associations (21)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Attention Deficit Disorder with Hyperactivity Associate 36323684
Auditory Perceptual Disorders Associate 36323684
Autism Spectrum Disorder Associate 36068227
Autistic Disorder Associate 20034085
Bipolar Disorder Associate 27063557
Breast Neoplasms Associate 19047151
Carcinoma Hepatocellular Associate 22807686
Chromosome 21 monosomy Associate 7611297
Down Syndrome Associate 19893199, 22931243
Hemimegalencephaly Associate 15571509