Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	GRIA1
Previous Symbol	GLUR1
Symbol Alias	GluA1, GLURA
Approved Name	glutamate receptor, ionotropic, AMPA 1
Location	5q33
Position	chr5:153489615-153813869, 1
External Links	HGNC: 4571 Entrez Gene: 2890 Ensembl: ENSG00000155511 UCSC: uc003luy.4
No. of Studies	2 (Positive: 2; Negative: 0; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Shi, J., 2008 (b)	SNP: rs1461225, rs2926835, rs2926837, rs6580038	rs2926835 in the GRIA1 gene reached gene-wide association (permutation P<0.05 for all SNPs of each gene). . None of these associations survived multiple testing for its own system (e.g., glutamatergic or serotoninergic) or all the five systems taken together (permutation adjusted P>0.05)ã€‚	Positive	Comment on Study
Kerner, B.,2009	SNP: rs1864205, rs4385264, rs472792, rs490922, rs524610, rs524905	Our findings suggest that variations in GRIA1 may contribute to the pathophysiology of BP with psychotic features in some families	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 30)

GO terms by PBA (count: 5)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007268	synaptic transmission	biological process	TAS	116
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0030165	PDZ domain binding	molecular function	ISS	16
GO:0005234	extracellular-glutamate-gated ion channel activity	molecular function	IBA	12
GO:0045211	postsynaptic membrane	cellular component	IBA	68

GO terms by database search (count: 25)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0004971	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	molecular function	IDA[20805473]	2
GO:0032591	dendritic spine membrane	cellular component	IDA[20434989]	2
GO:0032281	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex	cellular component	IBA; ISS	8
GO:0005789	endoplasmic reticulum membrane	cellular component	IEA	52
GO:0043197	dendritic spine	cellular component	ISS	21
GO:0055037	recycling endosome	cellular component	IDA[20434989]	14
GO:0030666	endocytic vesicle membrane	cellular component	TAS	8
GO:0008021	synaptic vesicle	cellular component	IEA	13
GO:0034220	ion transmembrane transport	biological process	IBA; IEA	50
GO:0009986	cell surface	cellular component	ISS	40
GO:0035249	synaptic transmission, glutamatergic	biological process	IBA	14
GO:0032590	dendrite membrane	cellular component	IEA	3
GO:0031623	receptor internalization	biological process	IEA	5
GO:0043025	neuronal cell body	cellular component	ISS	50
GO:0008066	glutamate receptor activity	molecular function	TAS[1320959]	6
GO:0005515	protein binding	molecular function	IPI[20805473]	563
GO:0030425	dendrite	cellular component	IBA; ISS	65
GO:0035235	ionotropic glutamate receptor signaling pathway	biological process	IDA[20805473]; IEA	13
GO:0044309	neuron spine	cellular component	ISS	1
GO:0014069	postsynaptic density	cellular component	ISS	26
GO:0060292	long term synaptic depression	biological process	IEA	5
GO:0030054	cell junction	cellular component	IEA	88
GO:0007165	signal transduction	biological process	TAS[1311100]	136
GO:0044308	axonal spine	cellular component	IEA	1
GO:0007616	long-term memory	biological process	IEA	9

Gene related KEGG pathways (count: 3)

KEGG pathways by PBA (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04730	Long-term depression	15
hsa04720	Long-term potentiation	13

KEGG pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04080	Neuroactive ligand-receptor interaction	92

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 19)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
GRIA1	EPB41L1	NO	in vitro;in vivo;yeast 2-hybrid	11050113
GRIA1	SDCBP	NO	in vitro;yeast 2-hybrid	11891216
GRIA1	EPB41L2	NO	in vitro;in vivo;yeast 2-hybrid	11050113
GRIA1	PRKCA	NO	in vitro;in vivo	8663994
GRIA1	TANC1	NO	in vivo	15673434
GRIA1	PRKACA	NO	in vitro;in vivo	8663994
GRIA1	TRPC1	NO	in vitro;in vivo	14614461
GRIA1	SQSTM1	NO	in vitro;in vivo	19004011
GRIA1	GRIPAP1	NO	in vivo	10896157
GRIA1	CAMK2G	NO	in vitro;in vivo	12609872 , 9407043 , 7877986
GRIA1	GRIA4	NO	in vivo	9466455
GRIA1	PICK1	YES	in vitro	11891216
GRIA1	CXCR2	NO	in vivo	12888558
GRIA1	HOMER1	NO	in vitro;in vivo	9069287 , 9808458 , 11418862
GRIA1	CACNG2	YES	in vivo	11140673
GRIA1	HSPA5	YES	in vivo	10461883
GRIA1	CASP8	NO	in vivo	11751897
GRIA1	CANX	NO	in vivo	10461883
GRIA1	GRID2	NO	in vivo	12573530

Related other genetic factors

Gene related SNPs (count: 80)

Literature-origin SNPs (count: 10)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs524610	chr5:153493420 - 153493420(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)
rs524905	chr5:153502806 - 153502806(1)	intron_variant; non_coding_transcript_variant	1(1/0/0)
rs490922	chr5:153504263 - 153504263(1)	intron_variant; non_coding_transcript_variant	1(1/0/0)
rs4385264	chr5:153674175 - 153674175(1)	intron_variant; non_coding_transcript_variant	1(1/0/0)
rs472792	chr5:153491624 - 153491624(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)
rs6580038	chr5:153753281 - 153753281(1)	intron_variant; upstream_gene_variant	1(1/0/0)
rs1864205	chr5:153505270 - 153505270(1)	intron_variant; non_coding_transcript_variant	1(1/0/0)
rs2926837	chr5:153792240 - 153792240(1)	intron_variant	1(1/0/0)
rs2926835	chr5:153809370 - 153809370(1)	intron_variant	1(1/0/0)
rs1461225	chr5:153803165 - 153803165(1)	intron_variant	1(1/0/0)

LD-proxies (count: 70)

rs_ID	Location	Functional Annotation
rs6580035	chr5:153735055 - 153735055(1)	intron_variant
rs7731036	chr5:153731841 - 153731841(1)	intron_variant
rs4377754	chr5:153737115 - 153737115(1)	intron_variant
rs6580036	chr5:153736403 - 153736403(1)	intron_variant
rs6897016	chr5:153738376 - 153738376(1)	intron_variant
rs6896622	chr5:153737947 - 153737947(1)	intron_variant
rs6870761	chr5:153743784 - 153743784(1)	intron_variant
rs4273649	chr5:153740488 - 153740488(1)	intron_variant
rs6890276	chr5:153744169 - 153744169(1)	intron_variant
rs6889794	chr5:153743895 - 153743895(1)	intron_variant
rs4128572	chr5:153749155 - 153749155(1)	intron_variant
rs10063691	chr5:153745238 - 153745238(1)	intron_variant
rs11748890	chr5:153755846 - 153755846(1)	downstream_gene_variant; intron_variant
rs11742288	chr5:153755813 - 153755813(1)	downstream_gene_variant; intron_variant
rs7445290	chr5:153757142 - 153757142(1)	downstream_gene_variant; intron_variant
rs6893441	chr5:153756506 - 153756506(1)	downstream_gene_variant; intron_variant
rs7445323	chr5:153757225 - 153757225(1)	downstream_gene_variant; intron_variant
rs7709205	chr5:153759149 - 153759149(1)	downstream_gene_variant; intron_variant
rs6580039	chr5:153762562 - 153762562(1)	intron_variant
rs3813470	chr5:153764656 - 153764656(1)	intron_variant
rs12717883	chr5:153765275 - 153765275(1)	intron_variant
rs4254956	chr5:153765624 - 153765624(1)	intron_variant
rs11749611	chr5:153766858 - 153766858(1)	intron_variant
rs4576205	chr5:153768288 - 153768288(1)	intron_variant
rs2964018	chr5:153770980 - 153770980(1)	intron_variant
rs2926847	chr5:153772232 - 153772232(1)	intron_variant
rs2926849	chr5:153777110 - 153777110(1)	intron_variant
rs2964016	chr5:153777159 - 153777159(1)	intron_variant
rs2964024	chr5:153778641 - 153778641(1)	intron_variant
rs1461231	chr5:153781589 - 153781589(1)	intron_variant
rs1461232	chr5:153782613 - 153782613(1)	intron_variant
rs2964026	chr5:153782834 - 153782834(1)	intron_variant
rs1461233	chr5:153784093 - 153784093(1)	intron_variant
rs2926854	chr5:153783484 - 153783484(1)	intron_variant
rs2926856	chr5:153786389 - 153786389(1)	intron_variant
rs2926855	chr5:153784690 - 153784690(1)	intron_variant
rs2963998	chr5:153797493 - 153797493(1)	intron_variant
rs2926869	chr5:153787324 - 153787324(1)	intron_variant
rs1461224	chr5:153806677 - 153806677(1)	intron_variant
rs2963997	chr5:153800309 - 153800309(1)	intron_variant
rs2964013	chr5:153818136 - 153818136(1)	downstream_gene_variant
rs1461226	chr5:153790180 - 153790180(1)	intron_variant
rs10035289	chr5:153716358 - 153716358(1)	intron_variant
rs6881133	chr5:153720985 - 153720985(1)	intron_variant
rs6859463	chr5:153721001 - 153721001(1)	intron_variant
rs10041141	chr5:153718094 - 153718094(1)	intron_variant
rs11747810	chr5:153720713 - 153720713(1)	intron_variant
rs6866103	chr5:153722355 - 153722355(1)	intron_variant
rs6891987	chr5:153722689 - 153722689(1)	intron_variant
rs6881792	chr5:153721311 - 153721311(1)	intron_variant
rs10067262	chr5:153722003 - 153722003(1)	intron_variant
rs6580030	chr5:153730618 - 153730618(1)	intron_variant
rs6580031	chr5:153730680 - 153730680(1)	intron_variant
rs7720354	chr5:153729625 - 153729625(1)	intron_variant
rs10477084	chr5:153730297 - 153730297(1)	intron_variant
rs6886614	chr5:153731061 - 153731061(1)	intron_variant
rs6580034	chr5:153731086 - 153731086(1)	intron_variant
rs6580032	chr5:153730728 - 153730728(1)	intron_variant
rs6580033	chr5:153730898 - 153730898(1)	intron_variant
rs6580040	chr5:153769022 - 153769022(1)	intron_variant
rs1037892	chr5:153807913 - 153807913(1)	intron_variant
rs2964025	chr5:153781439 - 153781439(1)	intron_variant
rs2926833	chr5:153814103 - 153814103(1)	downstream_gene_variant
rs2926832	chr5:153816112 - 153816112(1)	downstream_gene_variant
rs4502882	chr5:153714438 - 153714438(1)	intron_variant
rs2964031	chr5:153787713 - 153787713(1)	intron_variant
rs2926838	chr5:153789725 - 153789725(1)	intron_variant
rs1461227	chr5:153790034 - 153790034(1)	intron_variant
rs1551765	chr5:153797018 - 153797018(1)	intron_variant
rs1466386	chr5:153785804 - 153785804(1)	intron_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 5)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 5	chr5:0-181538259	3 (0/2/1)
5q31-q33	chr5:131200000-160500000	1 (1/0/0)
5q32-5q33.3	chr5:145100000-160500000	1 (0/1/0)
5q33	chr5:150400000-160500000	2 (0/1/1)
5q33-34	chr5:150400000-169000000	1 (1/0/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 0)

Overlap with SZ from candidate gene intersection analysis (count: 2)

Reference	ID in SZGene	Result Category
16526023	332	Positive
19158809	332	Negative

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 0)

Overlap with MDD from candidate gene intersection analysis (count: 1)

Reference	Description	Category in MDD	Link in MK4MDD
22339950	Our findings demonstrate significant dysregulation of synaptic function/structure related genes SNAP25, DLG2 (SAP93), and MAP1A, and 2-amino-3-(5-methyl-3-oxo-1,2-oxazol-4-yl)propanoic acid receptor subunit genes GLUR1 and GLUR3	Pos	GRIA1

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Region: chr5:153489615..153813869 View in gBrowse