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Detail Data SLC1A3


Basic description
Gene Name SLC1A3
Protein Name Excitatory amino acid transporter 1 (Sodium-dependent glutamate/aspartate transporter 1) (GLAST-1) (Solute carrier family 1 member 3)
Family SLC1
Category Transport of inorganic cations/anions and amino acids/oligopeptides
Reaction name -
Reaction -

Network
Structure


[Overview]
Position 1 0 2 0 3 0 4 0 5 0 6 0 7 0 8 0 9 0 1 0 0 1 1 0 1 2 0 1 3 0 1 4 0 1 5 0 1 6 0 1 7 0 1 8 0 1 9 0 2 0 0 2 1 0 2 2 0 2 3 0 2 4 0 2 5 0 2 6 0 2 7 0 2 8 0 2 9 0 3 0 0 3 1 0 3 2 0 3 3 0 3 4 0 3 5 0 3 6 0 3 7 0 3 8 0 3 9 0 4 0 0 4 1 0 4 2 0 4 3 0 4 4 0 4 5 0 4 6 0 4 7 0 4 8 0 4 9 0 5 0 0 5 1 0 5 2 0 5 3 0 5 4 0 AA Pred 
        10         20         30         40         50         60         70         80         90        100        110        120        130        140        150        160        170        180        190        200        210        220        230        240        250        260        270        280        290        300        310        320        330        340        350        360        370        380        390        400        410        420        430        440        450        460        470        480        490        500        510        520        530        540 
MTKSNGEEPK MGGRMERFQQ GVRKRTLLAK KKVQNITKED VKSYLFRNAF VLLTVTAVIV GTILGFTLRP YRMSYREVKY FSFPGELLMR MLQMLVLPLI ISSLVTGMAA LDSKASGKMG MRAVVYYMTT TIIAVVIGII IVIIIHPGKG TKENMHREGK IVRVTAADAF LDLIRNMFPP NLVEACFKQF KTNYEKRSFK VPIQANETLV GAVINNVSEA METLTRITEE LVPVPGSVNG VNALGLVVFS MCFGFVIGNM KEQGQALREF FDSLNEAIMR LVAVIMWYAP VGILFLIAGK IVEMEDMGVI GGQLAMYTVT VIVGLLIHAV IVLPLLYFLV TRKNPWVFIG GLLQALITAL GTSSSSATLP ITFKCLEENN GVDKRVTRFV LPVGATINMD GTALYEALAA IFIAQVNNFE LNFGQIITIS ITATAASIGA AGIPQAGLVT MVIVLTSVGL PTDDITLIIA VDWFLDRLRT TTNVLGDSLG AGIVEHLSRH ELKNRDVEMG NSVIEENEMK KPYQLIAQDN ETEKPIDSET KM 
CCCCCCCCCC CCCCCHHHHH HHHHHHHHHH HHHCCCCHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHCC CCCCHHHHHH CCCHHHHHHH HHHHHHHHHH HHHHHHHHCC CCHHHCCHHH HHHHHHHHHH HHHHHHHHHH HHHHHCCCCC CCCCCHHCCC CCHHHHCHHH HHHHHHHCCH HHHHHHHHHH HHCCCCCCCC CCCCCCCCCC CCHHCCCCHH HHHHCCCCCC CCCCCCCCCC HHHHHHHHHH HHHHHHHHHC HHCCHHHHHH HHHHHHHHHH HHHHHHHHCC HHHHHHHHHH HHHCCCHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HCCCHHHHHH HHHHHHHHHH HHCCCCCHHH HHHHHHHHHC CCCCCEEEEE ECCCCCCCCC HHHHHHHHHH HHHHHHCCCC CCHHHHHHHH HHHHHHHHHC CCCCHHHHHH HHHHHHHCCC CHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHCC HHHHCCHHCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CC
[Overview] SLC1A1 SLC1A2 SLC1A3 SLC1A4 SLC1A5 SLC1A6 SLC1A7 
SLC1A1    ----------------MGKPARKGCEWKR-------------------------------------------FLKNNWVLLSTVAAVVLGITTGVLVREH---SNLSTLEKFYFAFPGEILMRMLKLIILPLIISSMITGVAALDSNVSGKIGLRAVVYYFCTTLIAVILGIVLVVSIKPGVTQK------VGEIARTGSTPEVSTVDAMLDLIRNMFPENLVQACFQQYKTKRE-------------------EVKPP-------SDPEMNMTE-----ESFTAVMTTAISKNKTKEYKIVGM--YSDGINVLGLIVFCLVFGLVIGKMGEKGQILVDFFNALSDATMKIVQIIMCYMPLGILFLIAGKIIEVEDWEIF-RKLGLYMATVLTGLAIHSIVILPLIYFIVVRKNPFRFAMGMAQALLTALMISSSSATLPVTFRCAEENNQVDKRITRFVLPVGATINMDGTALYEAVAAVFIAQLNDLDLGIGQIITISITATSASIGAAGVPQAGLVTMVIVLSAVGLPAEDVTLIIAVDWLLDRFRTMVNVLGDAFGTGIV-EKLSKKELEQMDVS------SEVNI-------------VNPFALE-----STILDNEDSDTKKSYVNGGFAVDKSDTISFT--------------------------QTSQF----
SLC1A2    ------------MASTEGAN-------------NMPKQVEV--------RMHDSHLGSEEPKHRHLGLRLCDKLGKNLLLTLTVFGVILGAVCGGLLRLA---SPIHPDVVMLIAFPGDILMRMLKMLILPLIISSLITGLSGLDAKASGRLGTRAMVYYMSTTIIAAVLGVILVLAIHPGNPKL------KKQLGPGKKNDEVSSLDAFLDLIRNLFPENLVQACFQQIQTVTKKV-----------------LVAPP-------PDEEANATS-----AVVSLLNETVTEVPEETKMVIKKGLEFKDGMNVLGLIGFFIAFGIAMGKMGDQAKLMVDFFNILNEIVMKLVIMIMWYSPLGIACLICGKIIAIKDLEVVARQLGMYMVTVIIGLIIHGGIFLPLIYFVVTRKNPFSFFAGIFQAWITALGTASSAGTLPVTFRCLEENLGIDKRVTRFVLPVGATINMDGTALYEAVAAIFIAQMNGVVLDGGQIVTVSLTATLASVGAASIPSAGLVTMLLILTAVGLPTEDISLLVAVDWLLDRMRTSVNVVGDSFGAGIV-YHLSKSELDTIDSQ--HRVHEDIEM-------------TKTQSIY-----DDMKNHRESNSNQCVYAAHNSV-IVDECKVT--------------LAANGKSADCSVEEEPWKREK
SLC1A3    ------------MTKSNGEEPKMGGRMERFQQGVRKRTLLA--------KKKVQNITKED---------VKSYLFRNAFVLLTVTAVIVGTILGFTLRPY----RMSYREVKYFSFPGELLMRMLQMLVLPLIISSLVTGMAALDSKASGKMGMRAVVYYMTTTIIAVVIGIIIVIIIHPGKGTK------EN-MHREGKIVRVTAADAFLDLIRNMFPPNLVEACFKQFKTNYEKR-----------------SFKVP-------IQA--NETLVGAVINNVSEAMETLTRIT--EELVPVPG--SVNGVNALGLVVFSMCFGFVIGNMKEQGQALREFFDSLNEAIMRLVAVIMWYAPVGILFLIAGKIVEMEDMGVIGGQLAMYTVTVIVGLLIHAVIVLPLLYFLVTRKNPWVFIGGLLQALITALGTSSSSATLPITFKCLEENNGVDKRVTRFVLPVGATINMDGTALYEALAAIFIAQVNNFELNFGQIITISITATAASIGAAGIPQAGLVTMVIVLTSVGLPTDDITLIIAVDWFLDRLRTTTNVLGDSLGAGIV-EHLSRHELKNRDVEMGNSVIEENEM-------------KKPYQ----------LIAQDNETEKPI-DSETKM--------------------------------------------
SLC1A4    --MEKSNETNGYLDSAQAGPAAGPGAP----------GTAAG-------RAR----------------RCAGFLRRQALVLLTVSGVLAGAGLGAALRG----LSLSRTQVTYLAFPGEMLLRMLRMIILPLVVCSLVSGAASLDASCLGRLGGIAVAYFGLTTLSASALAVALAFIIKPGSGAQTLQSSDLGLEDSGPPPVPKETVDSFLDLARNLFPSNLVVAAFRTYATDYKVV-------------------------------TQNSSSGN------------------VTHEKIPIGT--EIEGMNILGLVLFALVLGVALKKLGSEGEDLIRFFNSLNEATMVLVSWIMWYVPVGIMFLVGSKIVEMKDIIVLVTSLGKYIFASILGHVIHGGIVLPLIYFVFTRKNPFRFLLGLLAPFATAFATCSSSATLPSMMKCIEENNGVDKRISRFILPIGATVNMDGAAIFQCVAAVFIAQLNNVELNAGQIFTILVTATASSVGAAGVPAGGVLTIAIILEAIGLPTHDLPLILAVDWIVDRTTTVVNVEGDALGAGIL-HHLNQKATKKGEQEL-AEVKVE------AIPNCKSEEETSPLVTH-QNPAGPVASAPELESKESVL--------------------------------------------------
SLC1A5    MVADPPRDSKGL---AAAEPTANGGLALA---SIEDQGAAAGGYCGSRDQVR----------------RC---LRANLLVLLTVVAVVAGVALGLGVSGAGGALALGPERLSAFVFPGELLLRLLRMIILPLVVCSLIGGAASLDPGALGRLGAWALLFFLVTTLLASALGVGLALALQPGAASAAINAS-VGAAGSAENAPSKEVLDSFLDLARNIFPSNLVSAAFRSYSTTYE----------------------------------ERNITG--------------------TRVKVPVGQ--EVEGMNILGLVVFAIVFGVALRKLGPEGELLIRFFNSFNEATMVLVSWIMWYAPVGIMFLVAGKIVEMEDVGLLFARLGKYILCCLLGHAIHGLLVLPLIYFLFTRKNPYRFLWGIVTPLATAFGTSSSSATLPLMMKCVEENNGVAKHISRFILPIGATVNMDGAALFQCVAAVFIAQLSQQSLDFVKIITILVTATASSVGAAGIPAGGVLTLAIILEAVNLPVDHISLILAVDWLVDRSCTVLNVEGDALGAGLLQNYVDRTESRSTEPEL-IQVKSELPLDPLPVPT----EEGNPLLKHYRGPAGDATVASE---KESVM--------------------------------------------------
SLC1A6    ----MSSHGNSLFLRESGQRLGRVGWLQRLQESLQQRALRT--------RLRLQTMTLEH---------VLRFLRRNAFILLTVSAVVIGVSLAFALRPY----QLTYRQIKYFSFPGELLMRMLQMLVLPLIVSSLVTGMASLDNKATGRMGMRAAVYYMVTTIIAVFIGILMVTIIHPGKGSK------EG-LHREGRIETIPTADAFMDLIRNMFPPNLVEACFKQFKTQYSTRVVTRTMVRTENGSEPGASMPPP-------FSVE-NGT---SFLENVTRALGTLQEMLSFEETVPVPG--SANGINALGLVVFSVAFGLVIGGMKHKGRVLRDFFDSLNEAIMRLVGIIIWYAPVGILFLIAGKILEMEDMAVLGGQLGMYTLTVIVGLFLHAGIVLPLIYFLVTHRNPFPFIGGMLQALITAMGTSSSSATLPITFRCLEEGLGVDRRITRFVLPVGATVNMDGTALYEALAAIFIAQVNNYELNLGQITTISITATAASVGAAGIPQAGLVTMVIVLTSVGLPTEDITLIIAVDWFLDRLRTMTNVLGDSIGAAVI-EHLSQRELELQEAEL-----TLPSL-------------GKPYK---------SLMAQEKGASRGRGGNESAM--------------------------------------------
SLC1A7    ---------------------------------MVPHAILA--------RGR-------------------DVCRRNGLLILSVLSVIVGCLLGFFLRTR----RLSPQEISYFQFPGELLMRMLKMMILPLVVSSLMSGLASLDAKTSSRLGVLTVAYYLWTTFMAVIVGIFMVSIIHPGSAAQ------KETTEQSGK-PIMSSADALLDLIRNMFPANLVEATFKQYRTKTTPVVKSPKVAP---------EEAPPRRILIYGVQEE-NGSHV----QNFALDLTPPPEVVYKSE----PG--TSDGMNVLGIVFFSATMGIMLGRMGDSGAPLVSFCQCLNESVMKIVAVAVWYFPFGIVFLIAGKILEMDDPRAVGKKLGFYSVTVVCGLVLHGLFILPLLYFFITKKNPIVFIRGILQALLIALATSSSSATLPITFKCLLENNHIDRRIARFVLPVGATINMDGTALYEAVAAIFIAQVNNYELDFGQIITISITATAASIGAAGIPQAGLVTMVIVLTSVGLPTDDITLIIAVDWALDRFRTMINVLGDALAAGIM-AHICRKDFA-RDTG------TEKLLP----------CETKPVSLQ-----E-IVAAQQNGCVKSV-AEASEL----TLGPTCPHHVPVQVEQDEELPAASLN-HCTIQISELETNV

Variant
check gene name residue number Reference Amino Acid / Variant Amino Acid minor allele frequency rs number
-- SLC1A3 23 R/H 0.000433593 rs199774340
-- SLC1A3 77 E/D 0.0005221 rs549948326
-- SLC1A3 219 E/D 0.0247375 rs2032892
-- SLC1A3 226 R/G 0.00023876 rs201069745
SLC1A3 291 V/M 0.000107389 rs143438887
SLC1A3 318 T/A 0.000202807 rs117588697
SLC1A3 329 A/T 0.000385741 rs200243548
SLC1A3 385 R/H 0.000194919 rs115702388
SLC1A3 458 V/I 0.000763468 rs181358295

Phylogenetic tree

Pathway
Priority Gene Name Reactome (Gene) Reactome (Pathway)
main SLC1A3 SLC1A3 [plasma membrane] Transport of inorganic cations/anions and amino acids/oligopeptides
SLC1A3 SLC1A3 [plasma membrane] Astrocytic Glutamate-Glutamine Uptake And Metabolism
SLC1A3 SLC1A3 [plasma membrane] Glutamate Neurotransmitter Release Cycle

Disease
Gene Name Reactome (Gene) Reactome (Pathway)
SLC1A3 SLC1A3 C186S [plasma membrane] Defective SLC1A3 causes episodic ataxia 6 (EA6)
SLC1A3 SLC1A3 P290R [plasma membrane] Defective SLC1A3 causes episodic ataxia 6 (EA6)