Detail Data SLC17A5

Basic description

Gene Name	SLC17A5
Protein Name	Sialin (H(+)/nitrate cotransporter) (H(+)/sialic acid cotransporter) (AST) (Membrane glycoprotein HP59) (Solute carrier family 17 member 5) (Vesicular H(+)/Aspartate-glutamate cotransporter)
Family	SLC17
Category	Transport of inorganic cations/anions and amino acids/oligopeptides
Reaction name	SLC17A5 cotransports Neu5Ac, H+ from lysosomal lumen to cytosol
Reaction	1 H+ [lysosomal lumen] + 1 Neu5Ac [lysosomal lumen] --> 1 Neu5Ac [cytosol] + 1 H+ [cytosol]

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 
MRSPVRDLAR NDGEESTDRT PLLPGAPRAE AAPVCCSARY NLAILAFFGF FIVYALRVNL SVALVDMVDS NTTLEDNRTS KACPEHSAPI KVHHNQTGKK YQWDAETQGW ILGSFFYGYI ITQIPGGYVA SKIGGKMLLG FGILGTAVLT LFTPIAADLG VGPLIVLRAL EGLGEGVTFP AMHAMWSSWA PPLERSKLLS ISYAGAQLGT VISLPLSGII CYYMNWTYVF YFFGTIGIFW FLLWIWLVSD TPQKHKRISH YEKEYILSSL RNQLSSQKSV PWVPILKSLP LWAIVVAHFS YNWTFYTLLT LLPTYMKEIL RFNVQENGFL SSLPYLGSWL CMILSGQAAD NLRAKWNFST LCVRRIFSLI GMIGPAVFLV AAGFIGCDYS LAVAFLTIST TLGGFCSSGF SINHLDIAPS YAGILLGITN TFATIPGMVG PVIAKSLTPD NTVGEWQTVF YIAAAINVFG AIFFTLFAKG EVQNWALNDH HGHRH 
CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCHHHHHH HHHHHHHHHH HHHCCHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHCC CHHHHHHHHH CCCCCCCCHH HHHHHHHHCC CCHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHCCCCHHH HHHHHHHHHH HHHHHHHHCC CHHHCCCCCH HHHHHHHHHH HHHCCCCCCC CHHHHHHCHH HHHHHHHHHH HHHHHHHHHH HCHHHHHHHH CCCHHHHHHH HCHHHHHHHH HHHHHHHHHH HHHHCCCCCH HHHHHHHHHH HHHHHHHHHH HHHHHCCHHH HHHHHHHHHH HHHCCCCHHH HHHHHHCCCH HHCHHHHHHH HHHHHHHHHH HHHHHHCCCC CCCCHHHHHH HHHHHHHHHH HHHHHHHHHC CCCCCCCCCC CCCCC

Family alignment

[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
--	SLC17A5	29	A/T	0.000812535	rs141463026
--	SLC17A5	39	R/C	0.000827196	rs80338794
--	SLC17A5	185	M/V	0.000660439	rs34348416
--	SLC17A5	284	P/R	0.000163058	rs549687571
--	SLC17A5	296	V/I	0.0236201	rs16883930
--	SLC17A5	300	S/F	0.00118131	rs142553916
--	SLC17A5	393	V/I	0.000159067	rs140060360
--	SLC17A5	432	F/S	0.00027839	rs200632199
--	SLC17A5	442	V/I	0.00112567	rs74360232
--	SLC17A5	478	A/T	0.000238652	rs141341430

Phylogenetic tree

Pathway

Priority	Gene Name	Reactome (Gene)	Reactome (Pathway)
main	SLC17A5	SLC17A5 [lysosomal membrane]	Organic anion transporters
	SLC17A5	SLC17A5 [lysosomal membrane]	Sialic acid metabolism

Disease

Gene Name	Reactome (Gene)	Reactome (Pathway)
SLC17A5	SLC17A5 I373Lfs*26 [lysosomal membrane]	Defective SLC17A5 causes Salla disease (SD) and ISSD
SLC17A5	SLC17A5 P334R [lysosomal membrane]	Defective SLC17A5 causes Salla disease (SD) and ISSD
SLC17A5	SLC17A5 H183R [lysosomal membrane]	Defective SLC17A5 causes Salla disease (SD) and ISSD
SLC17A5	SLC17A5 R39C [lysosomal membrane]	Defective SLC17A5 causes Salla disease (SD) and ISSD
SLC17A5	SLC17A5 T178Nfs*34 [lysosomal membrane]	Defective SLC17A5 causes Salla disease (SD) and ISSD