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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SLC1A3 Gene

protein-coding GIFtS: 68
GCID: GC05P036606

solute carrier family 1 (glial high affinity glutamate transporter),...

Explore 54 diseases affiliated with
SLC1A3 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Solute Carrier Family 1 (Glial High Affinity Glutamate Transporter), Member 3¹ ²		Solute Carrier Family 1 Member 3² ³
EAAT1¹ ² ³ ⁵		GLAST-1² ³
GLAST¹ ² ³		GLAST1² ³
EA6¹ ² ⁵		Excitatory Amino Acid Transporter 1²
Sodium-Dependent Glutamate/Aspartate Transporter 1² ³

External Ids:	HGNC: 10941¹	Entrez Gene: 6507²	Ensembl: ENSG00000079215⁷	OMIM: 600111⁵	UniProtKB: P43003³

Export aliases for SLC1A3 gene to outside databases

Previous GC identifers: GC05P036787 GC05P037672 GC05P036652 GC05P036642 GC05P036559

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SLC1A3:

This gene encodes a member of a member of a high affinity glutamate transporter family. Mutations in this gene are

associated with episodic ataxia, Type 6. Alternative splicing results in multiple transcript variants.(provided by

RefSeq, Nov 2009)

UniProtKB/Swiss-Prot: EAA1_HUMAN, P43003

Function: Transports L-glutamate and also L- and D-aspartate. Essential for terminating the postsynaptic action of

glutamate by rapidly removing released glutamate from the synaptic cleft. Acts as a symport by cotransporting sodium

summary for SLC1A3:

Glutamate transporters, also known as excitatory amino acid transporters (EAATs), are sodium- and

potassium-dependent members of the solute carrier family 6 (SLC1) found widely distributed throughout the

brain. There are five EAAT subtypes, each with a specific primary distribution; EAAT1 (cerebellar glia),

EAAT2 (forebrain glia), EAAT3 (cortical neurons), EAAT4 (cerebellar Purkinje neurons) and EAAT5 (retina).

Functions of glutamate transporters include regulation of excitatory neurotransmission, maintenance of low

ambient extracellular glutamate concentrations (protects against neurotoxicity) and providing glutamate for

metabolism through the glutamate-glutamine cycle. Overactivity of glutamate transporters has been implicated

in the pathophysiology of schizophrenia and other mental illnesses, whilst underactivity is seen in ischemia

and traumatic brain injury.

Gene Wiki entry for SLC1A3 (Glutamate aspartate transporter)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000005.9 NC_018916.1 NT_006576.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SLC1A3 gene promoter:
USF1 AP-1 ATF-2 Evi-1 SRY USF-1 c-Jun ZIC2/Zic2 Ik-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SLC1A3 promoter sequence

Search SABiosciences Chromatin IP Primers for SLC1A3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC1A3

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5p13 Ensembl cytogenetic band: 5p13.2 HGNC cytogenetic band: 5p13

SLC1A3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC1A3 gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05P036606: view genomic region (about GC identifiers)

Start:	36,606,457 bp from pter	End:	36,688,436 bp from pter
Size:	81,980 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: EAA1_HUMAN, P43003 (See protein sequence)

Recommended Name: Excitatory amino acid transporter 1

Size: 542 amino acids; 59572 Da

Subcellular location: Membrane; Multi-pass membrane protein

Secondary accessions: B2R5T3 Q4JCQ8

Alternative splicing: 2 isoforms: P43003-1 P43003-2 (Expressed throughout the CNS, both in gray matter and axonal tracts, at levels ranging between 10% and 20% of isoform 1. Localizes to ER, has no functional glutamate uptake activity, and exerts a dominant negative effect isoform 1)

Explore the universe of human proteins at neXtProt for SLC1A3: NX_P43003

Post-translational modifications:

Glycosylated¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P43003

SLC1A3 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001160167.1 NP_001160168.1 NP_004163.3

ENSEMBL proteins:

ENSP00000265113 ENSP00000427203 ENSP00000414078 ENSP00000424986 ENSP00000420992

ENSP00000408801 ENSP00000371343

Reactome Protein details: P43003
Human Recombinant Protein Products:

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	Uscn Proteins for SLC1A3

Gene Ontology (GO): 5/13 cellular component terms (GO ID links to tree view) (see all 13): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005624	membrane fraction	--	--
GO:0005743	mitochondrial inner membrane	--	--
GO:0005886	plasma membrane	TAS	--
GO:0009986	cell surface	IEA	--
GO:0016020	membrane	TAS	7521911

SLC1A3 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for SLC1A3

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SLC1A3 for domains About GeneDecksing

2 InterPro domains/families:

IPR001991 Na-dicarboxylate_symporter

IPR018107 Na-dicarboxylate_symporter_CS

Graphical View of Domain Structure for InterPro Entry P43003

ProtoNet protein and cluster: P43003

1 Blocks protein family: IPB001991 Sodium:dicarboxylate symporter

UniProtKB/Swiss-Prot: EAA1_HUMAN, P43003

Similarity: Belongs to the sodium:dicarboxylate (SDF) symporter (TC 2.A.23) family. SLC1A3 subfamily

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: EAA1_HUMAN, P43003

Function: Transports L-glutamate and also L- and D-aspartate. Essential for terminating the postsynaptic action of

glutamate by rapidly removing released glutamate from the synaptic cleft. Acts as a symport by cotransporting sodium

Genatlas biochemistry entry for SLC1A3:

solute carrier family 1,member A3,glial high affinity glutamate/aspartate transporter in the cerebellum,located in

astrocytes,involved in development and neonatal hypoxic-ischemic damage

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		hsa-miR-548j hsa-miR-3678-3p hsa-miR-361-5p hsa-miR-607 hsa-miR-548a-5p hsa-miR-548d-5p hsa-miR-23a hsa-miR-223*

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC1A3

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005313	L-glutamate transmembrane transporter activity	TAS	7521911
GO:0005314	high-affinity glutamate transmembrane transporter activity	IEA	--
GO:0005515	protein binding	--	--
GO:0016595	glutamate binding	IEA	--
GO:0016597	amino acid binding	--	--

SLC1A3 for ontologies About GeneDecksing

3 GenomeRNAi human phenotypes for SLC1A3:

Decreased influenza A virus in

Increased gamma-H2AX phosphory

Low eccentricity cells

Animal Models:
Mouse knock-outs for SLC1A3: Slc1a3^tm1Kta Slc1a3^tm1Wst
7 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Slc1a3):

behavior/neurological	cellular	hearing/vestibular/ear	homeostasis/metabolism	nervous system
no phenotypic analysis	vision/eye

SLC1A3 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/11 super-pathways (see all 11) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Amino acid and oligopeptide SLC transporters

Amino acid and oligopeptide SLC transporters

1.00

Transport of inorganic cations/anions and amino acids/oligopeptides

0.52

SLC-mediated transmembrane transport

SLC-mediated transmembrane transport

1.00

Transmembrane transport of small molecules

0.50

Transmission across Chemical Synapses

Transmission across Chemical Synapses

1.00

Neuronal System

0.67

Neurotransmitter uptake and Metabolism In Glial Cells

Astrocytic Glutamate-Glutamine Uptake And Metabolism

1.00

Neurotransmitter uptake and Metabolism In Glial Cells

1.00

Neuroscience

Neuroscience

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for SLC1A3

Glutamic acid signaling

1 R&D Systems Pathway for SLC1A3

Synaptic Neurotransmission: Glutamatergic Excitation

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for SLC1A3

Pathogenesis of ALS

1 Cell Signaling Technology (CST) Pathway for SLC1A3

Neuroscience

2 BioSystems Pathways for SLC1A3

	SIDS Susceptibility Pathways
	Synaptic Vesicle Pathway

5/8 Reactome Pathways for SLC1A3 (see all 8)

	Transmission across Chemical Synapses
	Neuronal System
	Neurotransmitter uptake and Metabolism In Glial Cells
	SLC-mediated transmembrane transport
	Transmembrane transport of small molecules

1 Kegg Pathway (Kegg details for SLC1A3):

Glutamatergic synapse

SLC1A3 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for SLC1A3

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

5 Interacting proteins for SLC1A3 (P43003^{2, 3} ENSP00000265113⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TNFRSF1B	P20333²^,³	MINT-49397 I2D: score=2
SGK1	O00141³, ENSP00000356832⁴	I2D: score=1 STRING: ENSP00000356832
BECN1	Q14457³	I2D: score=1
DLG4	P78352³	I2D: score=1
UBC	ENSP00000344818⁴	STRING: ENSP00000344818

About this table

Gene Ontology (GO): 5/22 biological process terms (GO ID links to tree view) (see all 22): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001504	neurotransmitter uptake	TAS	8647279
GO:0006536	glutamate metabolic process	--	--
GO:0006537	glutamate biosynthetic process	IEA	--
GO:0006811	ion transport	TAS	--
GO:0007268	synaptic transmission	TAS	7521911

SLC1A3 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

SLC1A3 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for SLC1A3 available from Tocris Bioscience About this table

Compound	Action	CAS #
L-trans-2,4-PDC	Transportable EAAT1-4 inhibitor/non-transportable EAAT5 inhibitor	[64769-66-0]
DL-TBOA	Selective non-transportable inhibitor of EAATs	--
7-Chlorokynurenic acid	Potent competitive inhibitor of L-glutamate uptake	[18000-24-3]
TFB-TBOA	High affinity EAAT1 and EAAT2 blocker	[480439-73-4]

1 HMDB Compound for SLC1A3 About this table

Compound	Synonyms	CAS #	PubMed Ids
Sodium	Sodium (see all 2)	7440-23-5	--

1 DrugBank Compound for SLC1A3 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
L-Glutamic Acid	(2S)-2-Aminopentanedioic acid (see all 15)	56-86-0	target	--	16959378 16855093 17088867

10/28 Novoseek chemical compound relationships for SLC1A3 gene (see all 28) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
glutamate	87.9	456	12957496 (5), 15605988 (5), 19139306 (5), 19428803 (5) (see all 99)
dihydrokainate	83.5	1	19657037 (1)
dl-threo-beta-benzyloxyaspartate	81.5	5	11677257 (1), 9463476 (1)
l-trans-pyrrolidine-2,4-dicarboxylic acid	79.5	3	7476890 (1), 9636115 (1), 9430708 (1)
aspartate	69	33	12387356 (2), 15242733 (2), 15615843 (2), 9048771 (1) (see all 25)
threo-beta-hydroxyaspartate	64.7	4	11677257 (1)
glutamine	57.6	25	19668465 (3), 12969764 (1), 16516348 (1), 19728998 (1) (see all 11)
nmda	37.2	1	9495799 (1)
kainate	32.7	9	7629063 (2), 9051792 (1), 9614067 (1)
chloride	26.3	3	9658205 (1), 9614067 (1)

Search CenterWatch for drugs/clinical trials and news about SLC1A3 / EAA1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SLC1A3 gene (3 alternative transcripts):

NM_001166695.1 NM_001166696.1 NM_004172.4

Unigene Cluster for SLC1A3:

Solute carrier family 1 (glial high affinity glutamate transporter), member 3

Hs.481918 [show with all ESTs]

Unigene Representative Sequence: NM_004172

15 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000265113(uc003jkj.4 uc011cox.2 uc010iuy.3) ENST00000513903

ENST00000512374(uc021xxn.1) ENST00000504121 ENST00000506725 ENST00000416645

ENST00000505202 ENST00000513646 ENST00000502864 ENST00000514563 ENST00000509272

ENST00000505376 ENST00000506178 ENST00000427100 ENST00000381918

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Additional cDNA sequence:

AF070609.1 AK057823.1 AK293886.1 AK295032.1 AK295754.1 AK312304.1 AY954110.1 BC022285.1

BC037310.2 BC054475.1 D26443.1 L19158.1 U03504.1

19 DOTS entries:

DT.447857 DT.97776967 DT.120819690 DT.40132668 DT.86859681 DT.120819680 DT.95161901 DT.120819686

DT.120819691 DT.120819771 DT.40115783 DT.40278295 DT.92003873 DT.95161894 DT.95161895 DT.301063

DT.40229653 DT.418125 DT.99997238

24/230 AceView cDNA sequences (see all 230):

BP349098 BX488230 BU627235 AU121191 AI383604 F08161 N59891 AW188918

AW664556 AU132968 CR601776 N78494 BU622226 F04399 AI583720 AI279982

BM696084 AI095838 BP350220 AW196228 AI199120 CA407746 T27034 AA322896

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for SLC1A3 (see all 8) About this scheme

ExUns:	1a	·	1b	^	2	^	3a	·	3b	^	4a	·	4b	^	5	^	6a	·	6b	^	7	^	8a	·	8b	·	8c	^	9	^	10a	·	10b	^	11	^	12a	·	12b	^	13	^	14a	·	14b	·	14c
SP1:					-		-		-						-						-																-
SP2:															-						-																-				-
SP3:					-										-
SP4:							-		-						-						-
SP5:															-						-

ECgene alternative splicing isoforms for SLC1A3

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SLC1A3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CACTCAGTGT

About this image

SLC1A3 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

7 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Inner Nuclear Layer

Mature Muller Glia Cells

Muller Glia, Retina

Brain

Blood Brain Barrier

Postnatal Endothelial Cells

Blood Brain Barrier, Endothelium

Amacrine, Retina

Zeugopod Growth Plate

Bone

Brain

Heart

Mesencephalic Ventricular Zone

Neural Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 5 LifeMap Cells

Name

Category

PureStem™ progenitor EN7 (Embryonic Progenitor Cell)

Otx2+Corin+ cells (Derivation of functi...)

Primitive gut tube-like cells (A scalable, suspensi...)

Epiblast-like cells (Reconstitution of mo...)

Primordial germ cell-like cells (Reconstitution of mo...)

See SLC1A3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SLC1A3

SOURCE GeneReport for Unigene cluster: Hs.481918

UniProtKB/Swiss-Prot: EAA1_HUMAN, P43003

Tissue specificity: Highly expressed in cerebellum, but also found in frontal cortex, hippocampus and basal ganglia

SABiosciences Expression via Pathway-Focused PCR Array including SLC1A3:

GABA & Glutamate in human mouse rat

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the last universal common ancestor (LUCA).

Orthologs for SLC1A3 gene from 8/26 species (see all 26) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Slc1a3^{1 , 5}	solute carrier family 1 (glial high affinity glutamate more^{1, 5}	89.18(n)¹ 96.68(a)¹		15 (3.82 cM)⁵ 20512¹ NM_148938.3¹ NP_683740.1¹ 8634124⁵
chicken (Gallus gallus)	Aves	SLC1A3¹	solute carrier family 1 (glial high affinity glutamate more	79.52(n) 89.11(a)		395443 XM_425011.2 XP_425011.2
lizard (Anolis carolinensis)	Reptilia	SLC1A3⁶	--	86(a)	1 ↔ 1	GL343241.1(1296315-1325425)
African clawed frog (Xenopus laevis)	Amphibia	MGC68789²	Excitatory amino acid transporter 1	76.71(n)		BC060347.1
zebrafish (Danio rerio)	Actinopterygii	Dr.28289²	Danio rerio mRNA similar to solute carrier family 1, more	74.62(n)		BC063233.1
fruit fly (Drosophila melanogaster)	Insecta	Eaat1^{1 , 3}	sodium/excitatory glutamate cotransporter³ Excitatory amino acid transporter 1¹	46(a) (best of 2)³ 54.52(n)¹ 48.19(a)¹		34251¹ NM_164854.2¹ NP_723455.1¹
worm (Caenorhabditis elegans)	Secernentea	glt-2³ glt-5¹	excitatory amino acid transporter³ Protein GLT-5¹	53(a) (best of 6)³ 55.81(n)¹ 51.68(a)¹		X(3531387-3534184)³ 174530¹ NM_063693.3¹ NP_496094.1¹
E. coli (Escherichia coli)	Gamma proteobacteria	dctA⁶ gltP⁶ (see all 3)	glutamate/aspartate:proton symporter (see all 3)	25(a) 25(a) (see all 3)	possible ortholog possible ortholog (see all 3)	Chromosome(3680184-3681470) Chromosome(4292504-4293817)

ENSEMBL Gene Tree for SLC1A3 (if available)
TreeFam Gene Tree for SLC1A3 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for SLC1A3 gene

SLC1A5² SLC1A7² SLC1A1² SLC1A2² SLC1A4² SLC1A6²

6 SIMAP similar genes for SLC1A3 using alignment to 6 protein entries: EAA1_HUMAN (see all proteins):

SLC1A6 SLC1A7 SLC1A5 SLC1A2 SLC1A1 SLC1A4

SLC1A3 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 5 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs16903188^1,2	C,F,H,	--	36557565(+)	`GAAATA/GCGCGT`	2	--	us2k¹		9	NA NS EA WA	680
rs62354613^1,2		--	36558765(+)	`CAGTGA/TACAAG`	2	--	us2k¹		2	NA	122
rs112958055^1,2	C,F,	--	36558858(+)	`TTGGGA/GATAAG`	2	--	us2k¹		3	WA CSA	122
rs10042564^1,2	C,F,H,	--	36559383(+)	`TTGTAC/TAACCA`	2	--	us2k¹		5	NS EA WA	536
rs114738345^1,2	C,F,	--	36560780(+)	`ACTTCA/GTACTT`	3	--	int¹ us2k¹		1	NA	120
rs78992973^1,2	C,	--	36560839(+)	`TGTGCC/TCAGAG`	3	--	int¹ us2k¹		2	NA	122
rs11543905^1,2	H	--	36561653(+)	`GAGTCC/AGTAAA`	6	/S /R	mis¹ ese³		5	NS EA NA	408
rs1428974^1,2	C,F,A,H,	--	36562568(+)	`TTAGAC/TTGACA`	3	--	int¹ ds500¹		20	EA NA NS WA CSA	1770
rs13174138^1,2	H	--	36562656(+)	`TACCGT/CTTTAA`	3	--	int¹ ds500¹		4	NS EA	420
rs13164080^1,2	H	--	36564291(+)	`TGTACA/TCCAAC`	2	--	int¹		4	NS EA	420

HapMap Linkage Disequilibrium report for SLC1A3 (36606457 - 36688436 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for SLC1A3: --
Human Gene Mutation Database (HGMD): SLC1A3

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

SLC1A3 for disorders           About GeneDecksing

OMIM gene information: 600111
OMIM disorders: 612656
UniProtKB/Swiss-Prot: EAA1_HUMAN, P43003

Defects in SLC1A3 are the cause of episodic ataxia type 6 (EA6) [MIM:612656]. EA6 is characterized by episodic

ataxia, seizures, migraine and alternating hemiplegia

20/54 diseases for SLC1A3 (see all 54): About MalaCards

episodic ataxia type 6 traumatic brain injury episodic ataxia brain injury

gilles de la tourette syndrome dentatorubral-pallidoluysian atrophy neuronal ceroid-lipofuscinoses ischemia

spinal muscular atrophy machado-joseph disease ataxia alternating hemiplegia of childhood

attention deficit hyperactivity disorder schizophrenia amyotrophic lateral sclerosis central nervous system disease

temporal lobe epilepsy hemiplegia nervous system disease wernicke encephalopathy

3 diseases from the University of Copenhagen DISEASES database for SLC1A3:

Episodic ataxia Toxic encephalopathy Amyotrophic lateral sclerosis

10/22 Novoseek disease relationships for SLC1A3 gene (see all 22) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
amyotrophic lateral sclerosis	61.8	4	10963360 (2), 10321246 (1), 8797537 (1)
neurodegeneration	54.9	1	20153402 (1)
gliosis	46.8	3	12453601 (1)
epilepsy temporal lobe	35.2	1	10336123 (1)
brain diseases	31.7	2	9972824 (1), 11461977 (1)
astrocytosis	30.7	1	15535133 (1)
motor neuron disease	27.8	1	10963360 (1)
alzheimers disease	25.6	8	9972824 (2), 11826152 (2), 15718040 (1), 11461977 (1) (see all 6)
encephalopathies hypoxic-ischemic	22.9	1	9630235 (1)
glioma	18.7	4	10594060 (1), 16368696 (1), 10548520 (1), 12470708 (1)

Human Genome Epidemiology (HuGE) Navigator: SLC1A3 (11 documents)

Export disorders for SLC1A3 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for SLC1A3 gene, integrated from 9 sources (see all 275):
(articles sorted by number of sources associating them with SLC1A3)

Utopia: connect your pdf to the dynamic
world of online information

Functional comparisons of three glutamate transporter subtypes cloned from human motor cortex. (PubMed id 7521911)^{1, 2, 3, 9} Arriza J.L.... Amara S.G. (1994)
A novel alternative splicing form of excitatory amino acid transporter 1 is a negative regulator of glutamate uptake. (PubMed id 16042756)^{1, 2, 9} Vallejo-Illarramendi A....Matute C. (2005)
Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures. (PubMed id 16116111)^{1, 2, 9} Jen J.C.... Baloh R.W. (2005)
Human high affinity, Na(+)-dependent L-glutamate/L-aspartate transporter GLAST-1 (EAAT-1): gene structure and localization to chromosome 5p11-p12. (PubMed id 8647279)^{1, 2, 9} Stoffel W....Lichter P. (1996)
Localization of the gene (SLC1A3) encoding human glutamate transporter (GluT-1) to 5p13 by fluorescence in situ hybridization. (PubMed id 7698014)^{1, 3} Takai S....Nakamura S. (1995)
Cloning and expression of a human glutamate transporter. (PubMed id 8123008)^{1, 2} Kawakami H.... Nakamura S. (1994)
Cloning and characterization of a glutamate transporter cDNA from human cerebellum. (PubMed id 8218410)^{1, 2} Shashidharan P. and Plaitakis A. (1993)
Transcriptional regulation of human excitatory amino acid transporter 1 (EAAT1): cloning of the EAAT1 promoter and characterization of its basal and inducible activity in human astrocytes. (PubMed id 14713304)^{1, 9} Kim S.Y....Volsky D.J. (2003)
Expression of excitatory amino acid transporter-1 (EAAT-1) in brain macrophages and microglia of patients with prion diseases. (PubMed id 15535133)^{1, 9} Chretien F....Gras G. (2004)
Expression of EAAT-1 distinguishes choroid plexus tumors from normal and reactive choroid plexus epithelium. (PubMed id 19283393)^{1, 9} Beschorner R....Schittenhelm J. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 6507	HGNC: 10941	AceView: SLC1A3	Ensembl:ENSG00000079215	euGenes: HUgn6507
ECgene: SLC1A3	Kegg: 6507	H-InvDB: SLC1A3

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for SLC1A3	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for SLC1A3	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC1A3

Intellectual Property for SLC1A3 gene
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Patent Information for SLC1A3 gene:
Search GeneIP for patents involving SLC1A3

GeneCards and IP:
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