GRIK1 - glutamate ionotropic receptor kainate type subunit 1 Gene

中文名称：谷氨酸离子型受体红藻氨酸亚基 1

种属: Homo sapiens

同用名: EAA3; EEA3; GLR5; GLUR5; GluK1; gluR-5

基因 ID: 2897 | 基因类型: protein coding

关于 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.

功能概要

谷氨酸受体是哺乳动物大脑中主要的兴奋性神经递质受体，在各种正常的神经生理过程中被激活。该基因产物属于谷氨酸受体的红藻氨酸家族，由四个亚基组成，起着配体激活离子通道的作用。由该基因编码的亚基在第二个跨膜结构域内进行 RNA 编辑 (CAG->CGG；Q->R) ，这被认为会改变离子流的特性。选择性剪接导致编码不同亚型的转录物变体，已被注意到该基因。[RefSeq 提供，2008 年 7 月]

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 基因产物(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

基因本体论

分子功能

分子功能 GO 注释	逻辑证据	参考文献	来源
enables glutamate-gated receptor activity	IDA IDA: 通过直接分析推断	8589992	GOA
enables kainate selective glutamate receptor activity	IDA IDA: 通过直接分析推断	9335499	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

GRIK1 蛋白结构

ANF_receptor

Lig_chan-Glu_bd

Lig_chan

0
200
400
600
800
918 a.a.

蛋白主名

其他名称

glutamate receptor ionotropic, kainate 1

GluK1(del_e2)

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS05798	GRIK1 Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS22540	Grik1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 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

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