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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] --> |
[Overview]
10 20 30 40 50 60 70 80 90 100 110 120 130 140 150 160 170 180 190 200 210 220 230 240 250 260 270 280 290 300 310 320 330 340 350 360 370 380 390 400 410 420 430 440 450 460 470 480 490 500 510 520 530 540 550 560 570 580 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 ---------------------------------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 |
Disease
Gene Name | Reactome (Gene) | Reactome (Pathway) |
---|---|---|
SLC17A8 | SLC17A8 A211V [synaptic vesicle membrane] | Defective SLC17A8 causes autosomal dominant deafness 25 (DFNA25) |