Gene Report

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Basic Info

Approved Symbol	SLC1A1
Symbol Alias	EAAC1, EAAT3
Approved Name	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
Location	9p24
Position	chr9:4490444-4587469, 1
External Links	HGNC: 10939 Entrez Gene: 6505 Ensembl: ENSG00000106688 UCSC: uc003zij.2
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Myles-Worsley, M., 2013		Discovery of this functionally relevant SLC1A1 mutation and its co-segregation with psychosis in an extended multigenerational pedigree provides further support for the important role played by glutamatergic transmission in the pathophysiology of psychotic disorders.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 20)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016020	membrane	cellular component	TAS[7521911]	137
GO:0005886	plasma membrane	cellular component	IDA[21123949]; TAS	360
GO:0005887	integral component of plasma membrane	cellular component	TAS[7521911]	158
GO:0007268	synaptic transmission	biological process	TAS[7521911]	116
GO:0006811	ion transport	biological process	TAS	18

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016595	glutamate binding	molecular function	IEA	6
GO:1903712	cysteine transmembrane transport	biological process	IDA[21123949]	1
GO:0055085	transmembrane transport	biological process	TAS	77
GO:0051260	protein homooligomerization	biological process	IEA	13
GO:0089711	L-glutamate transmembrane transport	biological process	IDA[21123949]	2
GO:0070779	D-aspartate import	biological process	IDA[7521911]	2
GO:0005313	L-glutamate transmembrane transporter activity	molecular function	IDA[21123949]	2
GO:0015501	glutamate:sodium symporter activity	molecular function	IEA	2
GO:0033229	cysteine transmembrane transporter activity	molecular function	IDA[21123949]	1
GO:0017153	sodium:dicarboxylate symporter activity	molecular function	IEA	3
GO:0051938	L-glutamate import	biological process	IDA[7521911]	3
GO:0070062	extracellular vesicular exosome	cellular component	IDA[19056867]	176
GO:0042883	cysteine transport	biological process	IDA[21123949]	1
GO:0005515	protein binding	molecular function	IPI[25416956]	563
GO:0016324	apical plasma membrane	cellular component	IDA[21123949]	24

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 3)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
SLC1A1	ARL6IP5	YES	in vitro;in vivo;yeast 2-hybrid	11242046
SLC1A1	EWSR1	NO	yeast 2-hybrid	16189514
SLC1A1	PRKCA	NO	in vitro;in vivo	12843260

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Myles-Worsley[2013]_1	chr9:4406529-4490826 (hg19)	84298	9p24.2	deletion

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
9p24	chr9:0-9000000	1 (0/1/0)
Chr 9	chr9:0-138394717	3 (0/3/0)

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

Gene relationship with SZ

Reference	ID in SZGene	Result Category
17221839	216	Negative

Gene relationship with MDD

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Region: chr9:4490444..4587469 View in gBrowse