GRIK1 - glutamate ionotropic receptor kainate type subunit 1 Gene

Also Known as EAA3; EEA3; GLR5; GLUR5; GluK1; gluR-5

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2897

About GRIK1

Cytogenetic location: 21q21.3 Genomic coordinates (GRCh38): 21:29,536,933-29,939,996 (from NCBI)

This gene has 8 transcripts (splice variants), 309 orthologues and 17 paralogues. Biased expression in adrenal (RPKM 3.8), brain (RPKM 1.9) and 2 other tissues.

Summary

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 composed of four subunits and function as ligand-activated ion channels. The subunit encoded by this gene is subject to RNA editing (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to alter the properties of ion flow. Alternative splicing, resulting in transcript variants encoding different isoforms, has been noted for this gene. [provided by RefSeq, Jul 2008]

GRIK1 Products (12)

mRNA Protein Name
NM_000830.6 NP_000821.1 glutamate receptor ionotropic, kainate 1 isoform 1 precursor
NM_001320616.2 NP_001307545.1 glutamate receptor ionotropic, kainate 1 isoform 3 precursor
NM_001320618.2 NP_001307547.1 glutamate receptor ionotropic, kainate 1 isoform 4
NM_001320621.2 NP_001307550.1 glutamate receptor ionotropic, kainate 1 isoform 5
NM_001320630.2 NP_001307559.1 glutamate receptor ionotropic, kainate 1 isoform 6 precursor
NM_001330993.2 NP_001317922.1 glutamate receptor ionotropic, kainate 1 isoform 7 precursor
NM_001330994.2 NP_001317923.1 glutamate receptor ionotropic, kainate 1 isoform 8 precursor
NM_001393424.1 NP_001380353.1 glutamate receptor ionotropic, kainate 1 isoform 9
NM_001393425.1 NP_001380354.1 glutamate receptor ionotropic, kainate 1 isoform 10
NM_001393426.1 NP_001380355.1 glutamate receptor ionotropic, kainate 1 isoform 11
NM_001410706.1 NP_001397635.1 glutamate receptor ionotropic, kainate 1 isoform 12
NM_175611.3 NP_783300.1 glutamate receptor ionotropic, kainate 1 isoform 2 precursor
Molecular Function GO Annotation Evidence References Source
enables glutamate-gated receptor activity IDA
IDA: Inferred from direct assay
8589992 GOA
enables kainate selective glutamate receptor activity IDA
IDA: Inferred from direct assay
9335499 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GRIK1 Protein Structure

ANF_receptor

ANF_receptor: Receptor family ligand binding region (55 - 394)

Lig_chan-Glu_bd

Lig_chan-Glu_bd: Ligated ion channel L-glutamate- and glycine-binding site (458 - 522)

Lig_chan

Lig_chan: Ligand-gated ion channel (576 - 846)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 918 a.a.
Protein Preferred Names Protein Names

glutamate receptor ionotropic, kainate 1

  • GluK1(del_e2)

Related Diseases

Diseases Alias
Temporal Lobe Epilepsy
  • Epilepsy, Temporal Lobe

  • Epilepsy Temporal Lobe

Juvenile Absence Epilepsy
  • Epilepsy Juvenile Absence

  • Jae

  • Childhood Absence Epilepsy

  • Absence Epilepsy

Nondisjunction
  • Mosaicism, Chromosomal

  • Mixoploidy, Familial

Childhood Absence Epilepsy
  • Pyknolepsy

  • Petit Mal Epilepsy

  • Absence Seizures

  • Absence Seizure

  • Petit Mal Seizure

  • Absence Epilepsy, Childhood

  • Pykno-Epilepsy

  • Epilepsy, Absence

  • Absence Epilepsy

  • Pycnolepsy

Down Syndrome
  • Trisomy 21

  • Complete Trisomy 21 Syndrome

  • Down'S Syndrome

  • Trisomy 21 Syndrome

  • Down'S Syndrome - Trisomy 21

  • Downs Syndrome

  • G Trisomy

  • 47,Xx,+21

  • 47,Xy,+21

  • Trisomy G

  • Down Syndrome, Susceptibility To

  • Chromosome 21 Trisomy

  • Trisomy 21 Nos

  • Abnormal Autosomes 21

Schizophrenia
  • SCZD

  • Schizophrenia With Or Without An Affective Disorder

  • Schizophrenia 12

  • Schizophrenia, Susceptibility To

  • Schizophrenia-1

  • Dementia Praecox

  • Schizophrenia 1

Epilepsy
  • Epilepsy Syndrome

  • Epileptic Syndrome

  • Epilepsies

  • Symptomatic Epilepsies

  • Post Traumatic Epilepsy

  • Traumatic Epilepsy

  • Traumatic Epileptic

  • Epilepsy Due To Hippocampal Sclerosis

  • Epilepsy With Ammon'S Horn Sclerosis

  • Epilepsy Due To Cortical Dysplasia

  • Epilepsy Due To Neuronal Migration Disorders

Huntington Disease
  • Huntington'S Disease

  • Huntington Chorea

  • Huntington'S Chorea

  • HD

  • Huntington Chronic Progressive Hereditary Chorea

  • Juvenile Huntington Disease

  • Chronic Progressive Chorea

  • Chronic Progressive Hereditary Chorea

  • Hc - [Huntington Chorea]

  • Hereditary Chorea

  • Progressive Hereditary Chorea

Adolescence-Adult Electroclinical Syndrome
Amyotrophic Lateral Sclerosis 1
  • Amyotrophic Lateral Sclerosis

  • ALS

  • Lou Gehrig Disease

  • Amyotrophic Lateral Sclerosis Type 1

  • Charcot Disease

  • ALS1

  • Amyotrophic Lateral Sclerosis, Susceptibility To

  • Fals

  • Lou Gehrig'S Disease

  • Mnd

  • Motor Neuron Disease

  • Familial Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis 1, Familial

  • Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

  • Motor Neuron Disease, Bulbar

  • Motor Neurone Disease

  • Amyotrophic Lateral Sclerosis With Dementia

  • Dementia With Amyotrophic Lateral Sclerosis

  • Motor Neuron Disease, Amyotrophic Lateral Sclerosis

  • Sclerosis, Lateral, Amyotrophic

  • Sclerosis, Lateral, Amyotrophic, Type 1

  • Amyotrophic Sclerosis

  • Als - [Amyotrophic Lateral Sclerosis]

  • Wasting Palsy

  • Amyotrophic Paralysis

  • Amyotrophy Lateral Sclerosis

  • Wasting Paralysis

  • Spinal Progressive Amyotrophy

  • Progressive Atrophic Paralysis

Bipolar Disorder
  • Bipolar Depression

  • Manic Disorder

  • Depression, Bipolar

  • Bipolar Disorder Manic Phase

  • Depressive-Manic Psych.

  • Manic Bipolar Affective Disorder

  • Manic Bipolar I Disorder

  • Manic Depression

  • Manic Depressive Disorder

  • Mixed Bipolar Disorder

  • Bipolar Affective Disorder

  • Bipolar Affective Psychosis

  • Bipolar Spectrum Disorder

  • Manic Depressive Illness

  • Depression Bipolar

  • Bipolar Disorder, Mixed

  • Major Affective Disorder

  • Major Affective Disorder 1

  • Major Affective Disorder 2

Migraine With Or Without Aura 1
  • Migraine

  • Migraine With Or Without Aura, Susceptibility To, 1

  • Migraine Disorder

  • Migraine Variant

  • Migraines

  • Migraine Disorders

  • Mgr1

  • Mgau

  • Ma

  • Migraine With Or Without Aura

  • Classic Migraine

  • Common Migraine

  • Disorder, Migraine

  • Headache Migraine

  • Headache Migrainous

  • Migraine Headache

  • Migraine Syndrome

  • Headache Including Migraine

  • Migraine, Susceptibility To

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus GRIK1 VGNC VGNC:53579
Felis catus GRIK1 VGNC VGNC:67467
Rattus norvegicus GRIK1 RGD RGD:2732
Canis familiaris GRIK1 VGNC VGNC:41486
Macaca mulatta GRIK1 VGNC VGNC:73277
Mus musculus GRIK1 MGD MGI:95814
Others GRIK1 NCBI