Detail Data SLC1A1

Basic description

Gene Name	SLC1A1
Protein Name	Excitatory amino acid transporter 3 (Excitatory amino-acid carrier 1) (Neuronal and epithelial glutamate transporter) (Sodium-dependent glutamate/aspartate transporter 3) (Solute carrier family 1 member 1)
Family	SLC1
Category	Transport of inorganic cations/anions and amino acids/oligopeptides
Reaction name	-
Reaction	-

Network

Structure

Sequence

[Overview]

        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 
MGKPARKGCE WKRFLKNNWV LLSTVAAVVL GITTGVLVRE HSNLSTLEKF YFAFPGEILM RMLKLIILPL IISSMITGVA ALDSNVSGKI GLRAVVYYFC TTLIAVILGI VLVVSIKPGV TQKVGEIART GSTPEVSTVD AMLDLIRNMF PENLVQACFQ QYKTKREEVK PPSDPEMNMT EESFTAVMTT AISKNKTKEY KIVGMYSDGI NVLGLIVFCL VFGLVIGKMG EKGQILVDFF NALSDATMKI VQIIMCYMPL GILFLIAGKI IEVEDWEIFR KLGLYMATVL TGLAIHSIVI LPLIYFIVVR KNPFRFAMGM AQALLTALMI SSSSATLPVT FRCAEENNQV DKRITRFVLP VGATINMDGT ALYEAVAAVF IAQLNDLDLG IGQIITISIT ATSASIGAAG VPQAGLVTMV IVLSAVGLPA EDVTLIIAVD WLLDRFRTMV NVLGDAFGTG IVEKLSKKEL EQMDVSSEVN IVNPFALEST ILDNEDSDTK KSYVNGGFAV DKSDTISFTQ TSQF 
CCCCCCCCCH HHHHHHHHHH HHHHHHHHHH HHHHHHHCCC CCCCCHHHHH HCCCHHHHHH HHHHHCHHHH HHHHHHHHHH CCCCCCCCHH HHHHHHHHHH HHHHHHHHHH HHHHHCCCCC CCCHHHHCCC CCCCCCCHHH HHHHHHHHHC CHHHHHHHHH HHCCCCCCCC CCCCCCCCCC CCCHHHHHHH HCCCCCCCCC HHHCCCCCHH HHHHHHHHHH HHHHHHHHCC CCCHHHHHHH HHHHHHHHHH HHHHHHCCHH HHHHHHHHHH HHHCCHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHC CCHHHHHHHH HHHHHHHHHH HCCCCCHHHH HHHHHHHCCC CCCEECEEEC CCCCCCCCHH HHHHHHHHHH HHHHCCCCCC HHHHHHHHHH HHHHHHHHCC CCHHHHHHHH HHHHHCCCCH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHCCHHH HHCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCEEECC CCCC

Family alignment

[Overview]

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
	SLC1A1	50	F/Y	0.0044992	rs2228621
	SLC1A1	88	G/R	0.00011534	rs144425673
	SLC1A1	104	I/T	0.00115377	rs147832850
	SLC1A1	307	I/T	0.00133244	rs34342853
	SLC1A1	361	V/I	0.000178945	rs143926021
	SLC1A1	411	V/M	0.000139338	rs199813988
	SLC1A1	469	E/Q	0.000266423	rs573498877
	SLC1A1	471	E/Q	0.000131222	rs201892735
--	SLC1A1	481	I/N	0.000894689	rs149003103
--	SLC1A1	521	T/A	0.000119323	rs909040697

Phylogenetic tree

Pathway

Priority	Gene Name	Reactome (Gene)	Reactome (Pathway)
main	SLC1A1	SLC1A1 [plasma membrane]	Transport of inorganic cations/anions and amino acids/oligopeptides
	SLC1A1	SLC1A1 [plasma membrane]	Glutamate Neurotransmitter Release Cycle

Disease

Gene Name	Reactome (Gene)	Reactome (Pathway)
SLC1A1	SLC1A1 I395del [plasma membrane]	Defective SLC1A1 is implicated in schizophrenia 18 (SCZD18) and dicarboxylic aminoaciduria (DCBXA)
SLC1A1	SLC1A1 84kb_del [plasma membrane]	Defective SLC1A1 is implicated in schizophrenia 18 (SCZD18) and dicarboxylic aminoaciduria (DCBXA)
SLC1A1	SLC1A1 R445W [plasma membrane]	Defective SLC1A1 is implicated in schizophrenia 18 (SCZD18) and dicarboxylic aminoaciduria (DCBXA)