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Variant
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Disease

Detail Data SLC17A8


Basic description
Gene Name SLC17A8
Protein Name Vesicular glutamate transporter 3 (VGluT3) (Solute carrier family 17 member 8)
Family SLC17
Category Transport of inorganic cations/anions and amino acids/oligopeptides
Reaction name Defective SLC17A8 does not exchange cytosolic L-Glu for synaptic vesicle H+
Reaction 1 L-Glu [cytosol] + 1 H+ [synaptic vesicle] -->

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 5 5 0 5 6 0 5 7 0 5 8 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        550        560        570        580 
MPFKAFDTFK EKILKPGKEG VKNAVGDSLG ILQRKIDGTT EEEDNIELNE EGRPVQTSRP SPPLCDCHCC GLPKRYIIAI MSGLGFCISF GIRCNLGVAI VEMVNNSTVY VDGKPEIQTA QFNWDPETVG LIHGSFFWGY IMTQIPGGFI SNKFAANRVF GAAIFLTSTL NMFIPSAARV HYGCVMCVRI LQGLVEGVTY PACHGMWSKW APPLERSRLA TTSFCGSYAG AVVAMPLAGV LVQYIGWSSV FYIYGMFGII WYMFWLLQAY ECPAAHPTIS NEEKTYIETS IGEGANVVSL SKFSTPWKRF FTSLPVYAII VANFCRSWTF YLLLISQPAY FEEVFGFAIS KVGLLSAVPH MVMTIVVPIG GQLADYLRSR QILTTTAVRK IMNCGGFGME ATLLLVVGFS HTKGVAISFL VLAVGFSGFA ISGFNVNHLD IAPRYASILM GISNGVGTLS GMVCPLIVGA MTRHKTREEW QNVFLIAALV HYSGVIFYGV FASGEKQEWA DPENLSEEKC GIIDQDELAE EIELNHESFA SPKKKMSYGA TSQNCEVQKK EWKGQRGATL DEEELTSYQN EERNFSTIS 
CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCEEEECCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHCCCCCCC CCCCCCCCCC CCCCCHHHHH HHHHHHHHHH HHHHHHHHHH HHCCCHHHHH HHHHHHHHHH HHHHHHHHHH CHHHHHHHHH HCCCCCCCCC CHHHHHHHHH CCHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHCCCCHH HHHHHHHHHH HHHHHHHHHH CCCCCCCCCC HHHHHHHHHH HCCCCCCCCC CCCCHHHHHH HHCHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHCCCHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHC CCCCCCHHHC CCCCCHHHHH HHHHHHHHHC CCHHHHHHHH HHHHHHHHHH HHHHHHHHHH HCHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHCCCCCCHH HHHHHHHHHH HHHHHHHHHH CCCCCCCCCC CCCCCCCCCC CCCCHHHHHH HHCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CHHHHHCCCC CCCCCCCCC 
                    
[Overview] SLC17A1 SLC17A2 SLC17A3 SLC17A4 SLC17A5 SLC17A6 SLC17A7 SLC17A8 SLC17A9
SLC17A1   ---------------------------------MQMDNRLPPKKVPGF------------------CSF-----RYGLSFLVHCCNVIITAQRACLNLTMVVMVNSTDPHGLPNTSTKKL-LDN-------------IKNPMYNWSPDIQGIILSSTSYGVIIIQVPVGYFSGIYSTKKMIGFALCLSSVLSLLIPPAAGI---GVAWVVVCRAVQGAAQGIVATAQFEIYVKWAPPLERGRLTSMSTSGFLLGPFIVLLVTGVICESLGWPMVFYIFGACGCAVCLLWFVLFYDDPKDHPCISISEKEYITS--SLVQQVSS----SRQSLPIKAILKSLPVWAISTGSFTFFWSHNIMTLYTPMFINSMLHVNIKENGFLSSLPYLFAWICGNLAGQLSDFFLTRNILSVIAVRKLFTAA----------GFLLPAIFGVCLPY-LSSTFYSIVIF---LILAGATGSFCLGGVFINGLDIAPRYFGFIKACSTLTGMIGGLIASTLTGLILKQDPESAWFKTFILMAAINVTGLIFYLIVATAEIQDWAKEKQHTR----------L---------------------------------------------------------------------
SLC17A2   -----------------------------------MDGKPATRKGPDF------------------CSL-----RYGLALIMHFSNFTMITQRVSLSIAIIAMVNTTQQQGLSNASTEGPVADAFNNSSISIK-EFDTKASVYQWSPETQGIIFSSINYGIILTLIPSGYLAGIFGAKKMLGAGLLISSLLTLFTPLAADF---GVILVIMVRTVQGMAQGMAWTGQFTIWAKWAPPLERSKLTTIAGSGSAFGSFIILCVGGLISQALSWPFIFYIFGSTGCVCCLLWFTVIYDDPMHHPCISVREKEHILS--SLAQQPSS----PGRAVPIKAMVTCLPLWAIFLGFFSHFWLCTIILTYLPTYISTLLHVNIRDSGVLSSLPFIAAASCTILGGQLADFLLSRNLLRLITVRKLFSSLDMQVSSWESQGDLGSSQ-ESSLPLPLDSSSVRILSLVGGMSFSCLLQSTCLAWSFTSRLD--------------------------------KQNFKTGPKR-------------------GPLPASEDIKLQT-----------------------------------------------------------------------------------
SLC17A3   --------------MATKTELSPTARESKNAQDMQVDETLIPRKVPSL------------------CSA-----RYGIALVLHFCNFTTIAQNVIMNITMVAMVNSTSPQSQLNDSSEVLPVDSFGGLSKAPK-SLPAKAPVYDWSPQIQGIIFGAVGYGGILTMAPSGYLAGRVGTKRVVGISLFATSFLTLCIPLATDF---GIVLLIVTRIVQGLSQSSILGGQFAIWEKWGPPQERSRLCSIALSGMLLGCFTAILIGGFISETLGWPFVFYIFGGVGCVCCLLWFVVIYDDPVSYPWISTSEKEYIIS--SLKQQVGS----SKQPLPIKAMLRSLPIWSICLGCFSHQWLVSTMVVYIPTYISSVYHVNIRDNGLLSALPFIVAWVIGMVGGYLADFLLTKK-FRLITVRKIATIL----------GSLPSSALIVSLPY-LNSGYITATAL---LTLSCGLSTLCQSGIYINVLDIAPRYSSFLMGASRGFSSIAPVIVPTVSGFLLSQDPEFGWRNVFFLLFAVNLLGLLFYLIFGEADVQEWAKERKLTR----------L---------------------------------------------------------------------
SLC17A4   --------------MSTGPDVKATVGDISSDGNLNVAQEECSRK--GF------------------CSV-----RHGLALILQLCNFSIYTQQMNLSIAIPAMVNNTAPPSQPNASTERPSTDSQGYWNETLK-EFKAMAPAYDWSPEIQGIILSSLNYGSFLAPIPSGYVAGIFGAKYVVGAGLFISSFLTLFIPLAANA---GVALLIVLRIVQGIAQVMVLTGQYSIWVKWAPPLERSQLTTIAGSGSMLGSFIVLLAGGLLCQTIGWPYVFYIFGGIGCACCPLWFPLIYDDPVNHPFISAGEKRYIVC--SLAQQDCS----PGWSLPIRAMIKSLPLWAILVSYFCEYWLFYTIMAYTPTYISSVLQANLRDSGILSALPFVVGCICIILGGLLADFLLSRKILRLITIRKLFTAI----------GVLFPSVILVSLPW-VRSSHSMTMTF---LVLSSAISSFCESGALVNFLDIAPRYTGFLKGLLQVFAHIAGAISPTAAGFFISQDSEFGWRNVFLLSAAVNISGLVFYLIFGRADVQDWAKEQTFTH----------L---------------------------------------------------------------------
SLC17A5   ------------MRSPVRDLARN-------------DGEESTDRTPLL-----PGAPRAEAAPVC-CSA-----RYNLAILAFFGFFIVYALRVNLSVALVDMVDSNTTLEDNRTSKACP------EHSAPIKVHHNQTGKKYQWDAETQGWILGSFFYGYIITQIPGGYVASKIGGKMLLGFGILGTAVLTLFTPIAADL---GVGPLIVLRALEGLGEGVTFPAMHAMWSSWAPPLERSKLLSISYAGAQLGTVISLPLSGIICYYMNWTYVFYFFGTIGIFWFLLWIWLVSDTPQKHKRISHYEKEYILS--SLRNQLS-----SQKSVPWVPILKSLPLWAIVVAHFSYNWTFYTLLTLLPTYMKEILRFNVQENGFLSSLPYLGSWLCMILSGQAADNLRAKWNFSTLCVRRIFSLI----------GMIGPAVFLVAAGF-IGCDYSLAVAF---LTISTTLGGFCSSGFSINHLDIAPSYAGILLGITNTFATIPGMVGPVIAKSLTPDNTVGEWQTVFYIAAAINVFGAIFFTLFAKGEVQNWA-----------------L------------------------NDHHGHRH-------------------------------------
SLC17A6   -----MESVKQRILAPGKEGLKNFAGKSLGQIYRVLEKKQDTGETIELTEDGKPLEVPERKAPLCDCTCFGLPRRYIIAIMSGLGFCISFGIRCNLGVAIVDMVNNSTIHRGGKVIK---------------------EKAKFNWDPETVGMIHGSFFWGYIITQIPGGYIASRLAANRVFGAAILLTSTLNMLIPSAARV---HYGCVIFVRILQGLVEGVTYPACHGIWSKWAPPLERSRLATTSFCGSYAGAVIAMPLAGILVQYTGWSSVFYVYGSFGMVWYMFWLLVSYESPAKHPTITDEERRYIEE--SIGESANLLGAMEKFKTPWRKFFTSMPVYAIIVANFCRSWTFYLLLISQPAYFEEVFGFEISKVGMLSAVPHLVMTIIVPIGGQIADFLRSKQILSTTTVRKIMNCG----------GFGMEATLLLVVGY--SHTRGVAISF---LVLAVGFSGFAISGFNVNHLDIAPRYASILMGISNGVGTLSGMVCPIIVGAMTKNKSREEWQYVFLIAALVHYGGVIFYAIFASGEKQPWADPEETSEEKCGFIHEDEL----DEETGDITQNYINYGT----TKSYGATTQANGGWPSGWEKKEEFVQGEVQDSHSYKDRVDYS---
SLC17A7   -----ME-FRQ-------EEFRKLAGRALGKLHRLLEKRQEGAETLELSADGRPVTTQTRDPPVVDCTCFGLPRRYIIAIMSGLGFCISFGIRCNLGVAIVSMVNNSTTHRGGHVVV---------------------QKAQFSWDPETVGLIHGSFFWGYIVTQIPGGFICQKFAANRVFGFAIVATSTLNMLIPSAARV---HYGCVIFVRILQGLVEGVTYPACHGIWSKWAPPLERSRLATTAFCGSYAGAVVAMPLAGVLVQYSGWSSVFYVYGSFGIFWYLFWLLVSYESPALHPSISEEERKYIED--AIGESAKLMNPLTKFSTPWRRFFTSMPVYAIIVANFCRSWTFYLLLISQPAYFEEVFGFEISKVGLVSALPHLVMTIIVPIGGQIADFLRSRRIMSTTNVRKLMNCG----------GFGMEATLLLVVGY--SHSKGVAISF---LVLAVGFSGFAISGFNVNHLDIAPRYASILMGISNGVGTLSGMVCPIIVGAMTKHKTREEWQYVFLIASLVHYGGVIFYGVFASGEKQPWAEPEEMSEEKCGFVGHDQLAGSDDSEMEDEAE---PPGAPPAPPPSYGAT------------------HSTFQPPRPPPPVRDY----
SLC17A8   MPFKAFDTFKEKILKPGKEGVKNAVGDSLGILQRKIDGTTEEEDNIELNEEGRPVQTSRPSPPLCDCHCCGLPKRYIIAIMSGLGFCISFGIRCNLGVAIVEMVNNSTVYVDGKPEI---------------------QTAQFNWDPETVGLIHGSFFWGYIMTQIPGGFISNKFAANRVFGAAIFLTSTLNMFIPSAARV---HYGCVMCVRILQGLVEGVTYPACHGMWSKWAPPLERSRLATTSFCGSYAGAVVAMPLAGVLVQYIGWSSVFYIYGMFGIIWYMFWLLQAYECPAAHPTISNEEKTYIET--SIGEGANVV-SLSKFSTPWKRFFTSLPVYAIIVANFCRSWTFYLLLISQPAYFEEVFGFAISKVGLLSAVPHMVMTIVVPIGGQLADYLRSRQILTTTAVRKIMNCG----------GFGMEATLLLVVGF--SHTKGVAISF---LVLAVGFSGFAISGFNVNHLDIAPRYASILMGISNGVGTLSGMVCPLIVGAMTRHKTREEWQNVFLIAALVHYSGVIFYGVFASGEKQEWADPENLSEEKCGIIDQDEL----AEEIELNHESFASPKK----KMSYGATSQNCEVQKKEWKGQRGATLDEEELTSYQNEERNFSTIS
SLC17A9   ------------MQPPPDEARRDMAGDT---------------------QWSRPE-----------CQAWTG--------TLLLGTCLLYCARSSMPICTVSMSQD------------------------------------FGWNKKEAGIVLSSFFWGYCLTQVVGGHLGDRIGGEKVILLSASAWGSITAVTPLLAHLSSAHLAFMTFSRILMGLLQGVYFPALTSLLSQKVRESERAFTYSIVGAGSQFGTLLTGAVGSLLLEWYGWQSIFYFSGGL----TLLWVWYVYR-------YLLSEKDLILALGVLAQSRPVS---RHSRVPWRRLFRKPAVWAAVVSQLSAACSFFILLSWLPTFFEETF--PDAKGWIFNVVPWLVAIPASLFSGFLSDHLINQG-YRAITVRKLMQGM----------GLGLSSVFALCLGH--TSSFCESVVF---ASASIGLQTFNHSGISVNIQDLAPSCAGFLFGVANTAGALAGVVGVCLGGYLM--ETTGSWTCLFNLVAIISNLGLCTFLVFGQAQRVDLSSTHE------------DL---------------------------------------------------------------------

                    

Variant
check gene name residue number Reference Amino Acid / Variant Amino Acid minor allele frequency rs number
-- SLC17A8 8 T/I 0.00152729 rs45610843
-- SLC17A8 77 I/N 0.000115319 rs761131801
-- SLC17A8 78 I/V 0.000298246 rs141811441
-- SLC17A8 130 G/D 0.00013527 rs771270860
-- SLC17A8 220 A/T 0.000258554 rs11568530
-- SLC17A8 339 A/T 0.000139616 rs138984845
-- SLC17A8 339 A/D 0.000139608 rs142232146
-- SLC17A8 374 A/S 0.00124917 rs138307707
-- SLC17A8 410 S/L 0.000127242 rs77232189
-- SLC17A8 466 L/I 0.000143243 rs201180712
-- SLC17A8 513 E/K 0.000278543 rs767334253
-- SLC17A8 549 G/R 0.000238949 rs201679317

Phylogenetic tree

Pathway
Priority Gene Name Reactome (Gene) Reactome (Pathway)
main SLC17A8 SLC17A8 [synaptic vesicle membrane] Organic anion transporters