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Variant
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Pathway
Disease

Detail Data SLC7A9


Basic description
Gene Name SLC7A9
Protein Name b(0,+)-type amino acid transporter 1 (b(0,+)AT1) (Glycoprotein-associated amino acid transporter b0,+AT1) (Solute carrier family 7 member 9)
Family SLC7
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 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 
MGDTGLRKRR EDEKSIQSQE PKTTSLQKEL GLISGISIIV GTIIGSGIFV SPKSVLSNTE AVGPCLIIWA ACGVLATLGA LCFAELGTMI TKSGGEYPYL MEAYGPIPAY LFSWASLIVI KPTSFAIICL SFSEYVCAPF YVGCKPPQIV VKCLAAAAIL FISTVNSLSV RLGSYVQNIF TAAKLVIVAI IIISGLVLLA QGNTKNFDNS FEGAQLSVGA ISLAFYNGLW AYDGWNQLNY ITEELRNPYR NLPLAIIIGI PLVTACYILM NVSYFTVMTA TELLQSQAVA VTFGDRVLYP ASWIVPLFVA FSTIGAANGT CFTAGRLIYV AGREGHMLKV LSYISVRRLT PAPAIIFYGI IATIYIIPGD INSLVNYFSF AAWLFYGLTI LGLIVMRFTR KELERPIKVP VVIPVLMTLI SVFLVLAPII SKPTWEYLYC VLFILSGLLF YFLFVHYKFG WAQKISKPIT MHLQMLMEVV PPEEDPE 
CCCCCCCCCC CCHHHHCCCC CCCCCCCHHC CHHHHHHHHH HHHHCCCHHH CCHHHHHCCC CHHHHHHHHH HHHHHHHHHH HHHHHHHHCC CCCCCHHHHH HHHHCCHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHCCC CCCCCCCHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHC CCCCCCCCCC CCCCCCCHHH HHHHHHHHHH HHCCCHHHHH HCHHHHCCCC CHHHHHHHHH HHHHHHHHHH HHHHHCCCCH HHHHHCCCHH HHHCCCCCCC HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHCCCCCHH HEECCCCCCC CCHHHHHHHH HHHHHHCCCC HHHHHHHHHH HHHHHHHHHH HHHHHHHHHC CCCCCCCCCC CHHHHHHHHH HHHHHHHHHC CCCHHHHHHH HHHHHHHHHH HHHHHHHHCH HHHHHCHHHH HHHHHHHHCC CCCCCCC 
                    
[Overview] SLC7A1 SLC7A10 SLC7A11 SLC7A13 SLC7A14 SLC7A2 SLC7A3 SLC7A4 SLC7A5 SLC7A6 SLC7A7 SLC7A8 SLC7A9
SLC7A1    -----------------------------------------MGCKVL-LNIGQQMLRRKVVD-CSRE--------ETRLSRCLNTFDLVALGVGSTLGAGVYVLAGAVAREN---AGPAIVISFLIAALASVLAGLCYGEFGARVPK-TGSAYLYSYVTVGELWAFITGWNLILSYIIGTSSVARAWSATFDELIGRPIGEFSRTHM-TLNAPGVLAE-NPD---------IFAVIIILILTGLLTLGVKESAMVNKIFTCINVLVLGFIMVSG---FVKGSVKNWQLTEEDFGNTSGRLCLNNDTKEGKP-GVGGFMPFGFSG--------VLSGAATCFYAFVGFDCIATTGEEVKNPQKAIPVGIVASLLICFIAYFGVSAALTLMMPYFCLDNNSPLPDAFKHVGWEGAKYAVAVGSLCALSASLLGSMFPMPRVIYAMAEDGLLFKFLANVNDRTKTPIIATLASGAVAAVMAFLFDLKDLVDLMSIGTLLAYSLVAACVLVLRYQ-PEQPNL---------------------------------------------VYQMASTSDELDPADQNELASTN------------------DSQLGFLPEAEMFSLKTILSP-------------KNMEPSKISGLIVNISTSLIAVLIITFCIVTVLGREALTKGALWAVFLLAGSALLCAVVT----------GVIWRQPESKTKLSFKVPFLPVLPILSIFVNVYLMMQLDQGTWVRFAVW-------------MLIGFIIYFGYGLWHSEE------------------------------------------------------------------------ASLDADQA-------RTPDG-------------------NLDQCK---------
SLC7A10   ----MAGH--------------------TQ------------------QPSGRGNPR-PAPSPSPVPGTVPGASERVALKKEIGLLSACTIIIGNIIGSGIFISPKGVLEHS-GSVGLALFV-WVLGGGVTALGSLCYAELGVAIPK-SGGDYAYVTEIFGGLAGFLLLWSAVLIMYPTSLAVI---SMTFSNYVLQPV--------------------FPNCIPPTTASRVLSMACLMLLTWVNSSSVRWATRIQDMFTGGKLLALSLIIGVGLLQIFQGHFEELRP------------------------------SNAFAFWMTPSVGHLALAFLQGSFAFSGWNFLNYVTEEMVDARKNLPRAIFISIPLVTFVYTFTNIAYFTAMSPQELLSSNAVAVTFGEKLLGYFSWVMPVSVALSTFGGINGYLFTYSRLCFSGAREGHLPSLLAMIHVRHCTPIPALLVCCGATAVIMLVGDTYTLINYVSFINYLCYGVTILGLLLLRWRRPALH-----------------------------------------------------------------------------------------------------------RP-------------------------------------------------------------------------------------------------IKVNL--LIPVAYLVFWAFLLV---------FSFISEPM-VCGVGVIIILTGVPIFFLGVFW--RSKPKCVHRLTESMTHWGQELCFVVYP--------QDAP----------------------------------EEEENGPCP---PSLLPATDK-----------------PSKPQ------------
SLC7A11   M---VRKP-------------VVSTISKGG------------------YLQGNVNGRLPSLGNKEPPGQ-----EKVQLKRKVTLLRGVSIIIGTIIGAGIFISPKGVLQNT-GSVGMSLTI-WTVCGVLSLFGALSYAELGTTIKK-SGGHYTYILEVFGPLPAFVRVWVELLIIRPAATAVI---SLAFGRYILEPF--------------------FIQCEIPELAIKLITAVGITVVMVLNSMSVSWSARIQIFLTFCKLTAILIIIVPGVMQLIKGQTQNFK--------------------------------DAFSG-RDSSITRLPLAFYYGMYAYAGWFYLNFVTEEVENPEKTIPLAICISMAIVTIGYVLTNVAYFTTINAEELLLSNAVAVTFSERLLGNFSLAVPIFVALSCFGSMNGGVFAVSRLFYVASREGHLPEILSMIHVRKHTPLPAVIVLHPLTMIMLFSGDLDSLLNFLSFARWLFIGLAVAGLIYLRYKCPDMH-----------------------------------------------------------------------------------------------------------RP-------------------------------------------------------------------------------------------------FKVPL--FIPALFSFTCLFMVA---------LSLYSDPF-STGIGFVITLTGVPAYYLFIIW--DKKPRWFRIMSEKITRTLQIILEVV----------------------------------------------------------------PEEDKL---------------------------------
SLC7A13   MD------------------------------------------------RG----------------------EKIQLKRVFGYWWGTSFLLINIIGAGIFVSPKGVLAYSCMNVGVSLCV-WAGCAILAMTSTLCSAEISISFPC-SGAQYYFLKRYFGSTVAFLNLWTSLFL----GSGVVAGQALLLAEYSIQPF--------------------FPSCSVPKLPKKCLALAMLWIVGILTSRGVKEVTWLQIASSVLKVSILSFISLTGVVFLIRGKKENVER-----------------------------FQNAFDA-ELPDISHLIQAIFQGYFAYSGGACFTLIAGELKKPRTTIPKCIFTALPLVTVVYLLVNISYLTVLTPREILSSDAVAITWADRAFPSLAWIMPFAISTSLFSNLLISIFKSSRPIYLASQEGQLPLLFNTLN-SHSSPFTAVLLLVTLGSLAIILTSLIDLINYIFFTGSLWSILLMIGILRRRYQEPNLS-----------------------------------------------------------------------------------------------------------IP-------------------------------------------------------------------------------------------------YKVFL--SFPLATIVIDVGLVV---------IPLVKSPNVHYVYVLLLVLSGLLFYIPLIHF--KIRLAWF----EKMTCYLQLLFNICLPDVS-----EE-------------------------------------------------------------------------------------------
SLC7A14   ----MSGFFT-------------------------SLDPRRVQWGAAWYAMHSRILRTKPVE-SMLEGTGTTTAHGTKLAQVLTTVDLISLGVGSCVGTGMYVVSGLVAKEM---AGPGVIVSFIIAAVASILSGVCYAEFGVRVPKTTGSAYTYSYVTVGEFVAFFIGWNLILEYLIGTAAGASALSSMFDSLANHTISRWMADSVGTLNGLGKGEESYPD---------LLALLIAVIVTIIVALGVKNSIGFNNVLNVLNLAVWVFIMIAGL-FFING--KYW--------------------------AEGQFLPHGWSG--------VLQGAATCFYAFIGFDIIATTGEEAKNPNTSIPYAITASLVICLTAYVSVSVILTLMVPYYTIDTESPLMEMFVAHGFYAAKFVVAIGSVAGLTVSLLGSLFPMPRVIYAMAGDGLLFRFLAHVSSYTETPVVACIVSGFLAALLALLVSLRDLIEMMSIGTLLAYTLVSVCVLLLRYQ-PESD-IDGFVKFLSEEHTKKKEGILADCEKEACSPVSEGDEFSGPATNTCGAKNLPSLGDNEMLIGKSDKSTYNVNHPNYGTVDMTTGIEADESENIYL-----IKLKKLIGPHYYTMRIRLGLPGKMDRPTAATGHTVTICVLLLFILMFIFCSFIIFGSDYISEQSWWAILLVV----------LMVLLISTLVFVILQQPENPKKLPYMAPCLPFVPAFAMLVNIYLMLKLSTITWIRFAVW-------------CFVGLLIYFGYGIWNSTLEISAREEALHQSTYQ----RYDVDDPFSV----EEGFSYATEGESQEDWGGPTEDKGFYYQQMSDAKANGRTSSKAKSKS-------KHKQN-------SEALIAND----ELDYSPE--------
SLC7A2    MKIETSGYNSDKLICRGFIGTPAPPVCDSKFLLSPSSDVRMIPCRAA-LTFARCLIRRKIVTLDSLE--------DTKLCRCLSTMDLIALGVGSTLGAGVYVLAGEVAKAD---SGPSIVVSFLIAALASVMAGLCYAEFGARVPK-TGSAYLYTYVTVGELWAFITGWNLILSYVIGTSSVARAWSGTFDELLSKQIGQFLRTYF-RMNYTG-LAE-YPD---------FFAVCLILLLAGLLSFGVKESAWVNKVFTAVNILVLLFVMVAG---FVKGNVANWKISEEFLKNISASAREPPSENGTSIYGAGGFMPYGFTG--------TLAGAATCFYAFVGFDCIATTGEEVRNPQKAIPIGIVTSLLVCFMAYFGVSAALTLMMPYYLLDEKSPLPVAFEYVGWGPAKYVVAAGSLCALSTSLLGSMFPLPRILFAMARDGLLFRFLARVSKR-QSPVAATLTAGVISALMAFLFDLKALVDMMSIGTLMAYSLVAACVLILRYQ-PGLS------------------------------------------------YDQPKCSPEKDGLGSSPRVTSK-----------------SESQVTML-QRQGFSMRTLFCP--------------SLLPTQQSASLVSFLVGFLAFLVLGLSVLTTYGVHAITRLEAWSLALLA----------LFLVLFVAIVLTIWRQPQNQQKVAFMVPFLPFLPAFSILVNIYLMVQLSADTWVRFSIW-------------MAIGFLIYFSYGIRHSLEGH---------------------------------------------------------------------LRDENNEED-------AYPDNVHAAAEEKSAIQANDHHPRNLSSPFIFHEKTSEF
SLC7A3    -----------------------------------------MPWQAF-RRFGQKLVRRRTLE-SGMA--------ETRLARCLSTLDLVALGVGSTLGAGVYVLAGEVAKDK---AGPSIVICFLVAALSSVLAGLCYAEFGARVPR-SGSAYLYSYVTVGELWAFTTGWNLILSYVIGTASVARAWSSAFDNLIGNHISKTLQGSI-ALHVPHVLAE-YPD---------FFALGLVLLLTGLLALGASESALVTKVFTGVNLLVLGFVMISG---FVKGDVHNWKLTEEDYELAMAEL---NDTYSLGPLGSGGFVPFGFEG--------ILRGAATCFYAFVGFDCIATTGEEAQNPQRSIPMGIVISLSVCFLAYFAVSSALTLMMPYYQLQPESPLPEAFLYIGWAPARYVVAVGSLCALSTSLLGSMFPMPRVIYAMAEDGLLFRVLARIHTGTRTPIIATVVSGIIAAFMAFLFKLTDLVDLMSIGTLLAYSLVSICVLILRYQ-PDQE---------------------------------------------------TKTGEEVEL--QEEAITT---------------------------ESEKLTLWGLFFP-------------LNSIPTPLSGQIVYVCSSLLAVLLTALCLVL----------AQWSVPLLSGDLLWTAVVVLLLLLIIGIIVVIWRQPQSSTPLHFKVPALPLLPLMSIFVNIYLMMQMTAGTWARFGVW-------------MLIGFAIYFGYGIQHSLEEI---------------------------------------------------------------------KSNQPSRKS-------RAKTV-------------------DLDPGTLYVHSV---
SLC7A4    -------------------------------------MARGLPTIASLARLCQKLNRLKPLEDSTME---------TSLRRCLSTLDLTLLGVGGMVGSGLYVLTGAVAKEV---AGPAVLLSFGVAAVASLLAALCYAEFGARVPR-TGSAYLFTYVSMGELWAFLIGWNVLLEYIIGGAAVARAWSGYLDSMFSHSIRNFTETHVGSWQVPL-LGH-YPD---------FLAAGIILLASAFVSCGARVSSWLNHTFSAISLLVILFIVILG---FILAQPHNWSA------------------------DEGGFAPFGFSG--------VMAGTASCFYAFVGFDVIAASSEEAQNPRRSVPLAIAISLAIAAGAYILVSTVLTLMVPWHSLDPDSALADAFYQRGYRWAGFIVAAGSICAMNTVLLSLLFSLPRIVYAMAADGLFFQVFAHVHPRTQVPVAGTLAFGLLTAFLALLLDLESLVQFLSLGTLLAYTFVATSIIVLRFQ-KSSP------------------------------PSSPGPASPGPLT-----KQQSSFSDHLQLVGTVHASVPE---PG--------------------------ELKPALRPY------------LGFLDGYSPGAVVTWALGVMLASAITIGCVLVFGNSTL-HLPHWGYILLL---LLTSVMFLLSLLVLGA-----HQQQYREDL-FQIPMVPLIPALSIVLNICLMLKLSYLTWVRFSIW-------------LLMGLAVYFGYGIRHSKENQ--RELPGLNSTH------YVVFPRGSL----EETV----------------------------------QAMQPPSQA-------PAQDP------------------GHME------------
SLC7A5    MA--GAGPKRRAL--------AAPAAEEKE------------------EAREKMLAA-KSADGSAPAGEGEG----VTLQRNITLLNGVAIIVGTIIGSGIFVTPTGVLKEA-GSPGLALVV-WAACGVFSIVGALCYAELGTTISK-SGGDYAYMLEVYGSLPAFLKLWIELLIIRPSSQYIV---ALVFATYLLKPL--------------------FPTCPVPEEAAKLVACLCVLLLTAVNCYSVKAATRVQDAFAAAKLLALALIILLGFVQIGKGDVSNLDP------------------------------NFSFEG-TKLDVGNIVLALYSGLFAYGGWNYLNFVTEEMINPYRNLPLAIIISLPIVTLVYVLTNLAYFTTLSTEQMLSSEAVAVDFGNYHLGVMSWIIPVFVGLSCFGSVNGSLFTSSRLFFVGSREGHLPSILSMIHPQLLTPVPSLVFTCVMTLLYAFSKDIFSVINFFSFFNWLCVALAIIGMIWLRHRKPELE-----------------------------------------------------------------------------------------------------------RP-------------------------------------------------------------------------------------------------IKVNL--ALPVFFILACLFLIA---------VSFWKTPV-ECGIGFTIILSGLPVYFFGVWW--KNKPKWLLQGIFSTTVLCQKLMQVV-P--------QET------------------------------------------------------------------------------------------
SLC7A6    ME--AREPGRPTPTY-----HLVPNT-----------------------SQSQVEE-----DVSSPPQRSSET---MQLKKEISLLNGVSLVVGNMIGSGIFVSPKGVLVHT-ASYGMSLIV-WAIGGLFSVVGALCYAELGTTITK-SGASYAYILEAFGGFIAFIRLWVSLLVVEPTGQAII---AITFANYIIQPS--------------------FPSCDPPYLACRLLAAACICLLTFVNCAYVKWGTRVQDTFTYAKVVALIAIIVMGLVKLCQGHSEHFQ--------------------------------DAFEG-SSWDMGNLSLALYSALFSYSGWDTLNFVTEEIKNPERNLPLAIGISMPIVTLIYILTNVAYYTVLNISDVLSSDAVAVTFADQTFGMFSWTIPIAVALSCFGGLNASIFASSRLFFVGSREGHLPDLLSMIHIERFTPIPALLFNCTMALIYLIVEDVFQLINYFSFSYWFFVGLSVVGQLYLRWKEPKRP-----------------------------------------------------------------------------------------------------------RP-------------------------------------------------------------------------------------------------LKLSV--FFPIVFCICSVFLVI---------VPLFTDTI-NSLIGIGIALSGVPFYFMGVYLPESRRPLFIRNVLAAITRGTQQLCFCVLTELDV----AEEK----------------------------------KDERKTD------------------------------------------------
SLC7A7    ---------------------MVDSTEYEV------------------ASQPEVETS-PLGDGASP---GPEQ---VKLKKEISLLNGVCLIVGNMIGSGIFVSPKGVLIYS-ASFGLSLVI-WAVGGLFSVFGALCYAELGTTIKK-SGASYAYILEAFGGFLAFIRLWTSLLIIEPTSQAII---AITFANYMVQPL--------------------FPSCFAPYAASRLLAAACICLLTFINCAYVKWGTLVQDIFTYAKVLALIAVIVAGIVRLGQGASTHFE--------------------------------NSFEG-SSFAVGDIALALYSALFSYSGWDTLNYVTEEIKNPERNLPLSIGISMPIVTIIYILTNVAYYTVLDMRDILASDAVAVTFADQIFGIFNWIIPLSVALSCFGGLNASIVAASRLFFVGSREGHLPDAICMIHVERFTPVPSLLFNGIMALIYLCVEDIFQLINYYSFSYWFFVGLSIVGQLYLRWKEPDRP-----------------------------------------------------------------------------------------------------------RP-------------------------------------------------------------------------------------------------LKLSV--FFPIVFCLCTIFLVA---------VPLYSDTI-NSLIGIAIALSGLPFYFLIIRVPEHKRPLYLRRIVGSATRYLQVLCMSVAAEMDL----EDGG----------------------------------EMPKQRD---------PKSN-----------------------------------
SLC7A8    ME-EGARHRNNT---------------EKK------------------HPGG------GESDASPEAGSGGGG---VALKKEIGLVSACGIIVGNIIGSGIFVSPKGVLENA-GSVGLALIV-WIVTGFITVVGALCYAELGVTIPK-SGGDYSYVKDIFGGLAGFLRLWIAVLVIYPTNQAVI---ALTFSNYVLQPL--------------------FPTCFPPESGLRLLAAICLLLLTWVNCSSVRWATRVQDIFTAGKLLALALIIIMGIVQICKGEYFWLEP------------------------------KNAFENFQEPDIGLVALAFLQGSFAYGGWNFLNYVTEELVDPYKNLPRAIFISIPLVTFVYVFANVAYVTAMSPQELLASNAVAVTFGEKLLGVMAWIMPISVALSTFGGVNGSLFTSSRLFFAGAREGHLPSVLAMIHVKRCTPIPALLFTCISTLLMLVTSDMYTLINYVGFINYLFYGVTVAGQIVLRWKKPDIP-----------------------------------------------------------------------------------------------------------RP-------------------------------------------------------------------------------------------------IKINL--LFPIIYLLFWAFLLV---------FSLWSEPV-VCGIGLAIMLTGVPVYFLGVYW--QHKPKCFSDFIELLTLVSQKMCVVVYPEVERGSGTEEAN----------------------------------EDMEEQQQPMYQPT--PTKDKDV---------------AGQPQP-----------
SLC7A9    --------------------------------------------------MGDTGLRKRREDEKSIQSQEPKT---TSLQKELGLISGISIIVGTIIGSGIFVSPKSVLSNT-EAVGPCLII-WAACGVLATLGALCFAELGTMITK-SGGEYPYLMEAYGPIPAYLFSWASLIVIKPTSFAII---CLSFSEYVCAPF--------------------YVGCKPPQIVVKCLAAAAILFISTVNSLSVRLGSYVQNIFTAAKLVIVAIIIISGLVLLAQGNTKNFD--------------------------------NSFEG-AQLSVGAISLAFYNGLWAYDGWNQLNYITEELRNPYRNLPLAIIIGIPLVTACYILMNVSYFTVMTATELLQSQAVAVTFGDRVLYPASWIVPLFVAFSTIGAANGTCFTAGRLIYVAGREGHMLKVLSYISVRRLTPAPAIIFYGIIATIYIIPGDINSLVNYFSFAAWLFYGLTILGLIVMRFTRKELE-----------------------------------------------------------------------------------------------------------RP-------------------------------------------------------------------------------------------------IKVPV--VIPVLMTLISVFLVL---------APIISKPTWEYLYCVLFILSGLLFYFLFVHY----KFGWAQKISKPITMHLQMLMEVVPPE-------ED----------------------------------------------------PE-------------------------------------

                    

Variant
check gene name residue number Reference Amino Acid / Variant Amino Acid minor allele frequency rs number
SLC7A9 59 T/M 0.000218771 rs146154087
SLC7A9 105 G/R 0.00027487 rs121908480
SLC7A9 123 T/M 0.000194952 rs79987078
SLC7A9 142 V/A 0.305932 rs12150889
SLC7A9 176 V/I 0.000620426 rs138744722
SLC7A9 182 A/T 0.00262488 rs79389353
SLC7A9 183 A/T 0.000174999 rs201766636
SLC7A9 214 A/T 0.000612594 rs753115478
SLC7A9 223 L/M 0.294484 rs1007160
SLC7A9 232 Y/C 0.000107396 rs121908487
SLC7A9 261 P/L 0.000111424 rs121908486
SLC7A9 277 V/M 0.000613052 rs147344717
SLC7A9 330 V/M 0.000139265 rs201618022
SLC7A9 346 V/I 0.000127277 rs780778962
SLC7A9 399 T/R 0.000103415 rs143927415
SLC7A9 400 R/K 0.000202856 rs202069562
SLC7A9 457 Y/H 0.000111342 rs138086959
SLC7A9 468 P/L 0.00316921 rs80283711
SLC7A9 482 P/S 0.000842983 rs140516386

Phylogenetic tree

Pathway
Priority Gene Name Reactome (Gene) Reactome (Pathway)
main SLC7A9 SLC7A9 [plasma membrane] Amino acid transport across the plasma membrane
SLC7A9 SLC7A9 [plasma membrane] Basigin interactions