Detail Data SLC12A1

Basic description

Gene Name	SLC12A1
Protein Name	Solute carrier family 12 member 1 (Bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2) (Kidney-specific Na-K-Cl symporter)
Family	SLC12
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        530        540        550        560        570        580        590        600        610        620        630        640        650        660        670        680        690        700        710        720        730        740        750        760        770        780        790        800        810        820        830        840        850        860        870        880        890        900        910        920        930        940        950        960        970        980        990       1000       1010       1020       1030       1040       1050       1060       1070       1080       1090 
MSLNNSSNVF LDSVPSNTNR FQVSVINENH ESSAAADDNT DPPHYEETSF GDEAQKRLRI SFRPGNQECY DNFLQSGETA KTDASFHAYD SHTNTYYLQT FGHNTMDAVP KIEYYRNTGS ISGPKVNRPS LLEIHEQLAK NVAVTPSSAD RVANGDGIPG DEQAENKEDD QAGVVKFGWV KGVLVRCMLN IWGVMLFIRL SWIVGEAGIG LGVLIILLST MVTSITGLST SAIATNGFVR GGGAYYLISR SLGPEFGGSI GLIFAFANAV AVAMYVVGFA ETVVDLLKES DSMMVDPTND IRIIGSITVV ILLGISVAGM EWEAKAQVIL LVILLIAIAN FFIGTVIPSN NEKKSRGFFN YQASIFAENF GPRFTKGEGF FSVFAIFFPA ATGILAGANI SGDLEDPQDA IPRGTMLAIF ITTVAYLGVA ICVGACVVRD ATGNMNDTII SGMNCNGSAA CGLGYDFSRC RHEPCQYGLM NNFQVMSMVS GFGPLITAGI FSATLSSALA SLVSAPKVFQ ALCKDNIYKA LQFFAKGYGK NNEPLRGYIL TFLIAMAFIL IAELNTIAPI ISNFFLASYA LINFSCFHAS YAKSPGWRPA YGIYNMWVSL FGAVLCCAVM FVINWWAAVI TYVIEFFLYV YVTCKKPDVN WGSSTQALSY VSALDNALEL TTVEDHVKNF RPQCIVLTGG PMTRPALLDI THAFTKNSGL CICCEVFVGP RKLCVKEMNS GMAKKQAWLI KNKIKAFYAA VAADCFRDGV RSLLQASGLG RMKPNTLVIG YKKNWRKAPL TEIENYVGII HDAFDFEIGV VIVRISQGFD ISQVLQVQEE LERLEQERLA LEATIKDNEC EEESGGIRGL FKKAGKLNIT KTTPKKDGSI NTSQSMHVGE FNQKLVEAST QFKKKQEKGT IDVWWLFDDG GLTLLIPYIL TLRKKWKDCK LRIYVGGKIN RIEEEKIVMA SLLSKFRIKF ADIHIIGDIN IRPNKESWKV FEEMIEPYRL HESCKDLTTA EKLKRETPWK ITDAELEAVK EKSYRQVRLN ELLQEHSRAA NLIVLSLPVA RKGSISDLLY MAWLEILTKN LPPVLLVRGN HKNVLTFYS 
CCCCCCCCCC CCCCCCCCCC EEEEEECCCC CCCCCCCCCC CCCCCCCCCC CHHHHCCCEE ECCCCCHHHC CCCCCCCCCC CCCCCCCCCC CCCCCEEECC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC HHHHHHHHHH CCCCCCCCCC CCCCCCCCCC CHHHHCCCCC CCCCCCCCHH HHHHHHHHHH HHHHHHHHHH HHHHHHCCHH HHHHHHHHHH HHHHHHHHHH HHHHHHCCCC CCCHHHHCCC CCCHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHCC CCCCCCCCCH HHHHHHHHHH HHHHHHHHHC HHHHHHHHHH HHHHHHHHHH HHCCCCCCCC CCCCCCCCCC CCCHHCCCCC CCCCCCCCCH HHHHHHHHCC CHHHHHCCCC CCCCCCCCCC CCCCCCCHHH HCCHHHHHHH HHHHHHHHHH HHCCCCCCCH HCCCCCCCCC CCCCCCCCCC CCCCCCCHHH HCHHHHHHHC CCHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHCCCCHHH HHHHHHHCCC CCCCHHHHHH HHHHHHHHHH HHHHCCHHHH HHHHHHHHHH HHHHHHHHHH HHCCCCCCCC CCCCHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHCCCCCCC CCCCHHHHHH HHHHHHHHHH CCCCHHHHCC CCCEEEECCC CCCCHHHHHH HHHHHCCCCE EEEEECCCCC HHHCHHHHHH HHHHHHHHHH HCCCCEEEEE EECCCHHHHH HHHHHHHCCC CCCCCEEEEC CCCCCCCCCC CHHHHHHHHH HHHHHCCCEE EEEECCCCCC CCHHHCCHHH HHHHHHHCHH HHHCCCCCCC CCCCCCCCCC CCCCCCCCCE ECCCCCCCCC CCCCCCCCCC CCHHHHHHHH HHHHHCCCCC EEEEEEECCC CHHHHHHHHH HCCHHHHHCC HHHHCCCCCH HHHHHHHHHH HHHHHHCCCC EEEEEECCCC CCCCCCCHHH HHHHHHHHHC CHHHHCCHHH HHHCCCCCCC CCHHHHHHHH HHHHHHCHHH HHHHHCCCCC EEEEECCCCC CCCCCCHHHH HHHHHHHHCC CCCEEEECCC CCCEEEEEC

Family alignment

[Overview]

SLC12A1   -------------------------------MSLNNSS--NVFLDSVPS---------------------------NTNRFQVSVINENHESSAAA---------------------DDNTDPPHYEETSFGDEAQKRLRISF------------RP-------------------------------------------------GNQECYDN----------------FLQSGETAKTD-ASFHA-------------YDSHTNTYYLQTFGHNTMDAVPKIEYYRNTGSISGPKVNRPSLLEIHEQLAKNV----------AVTPSSADRVANG-DGIPGDEQAENKEDDQAGVVKFGWVKGVLVRCMLNIWGVMLFIRLSWIVGEAGIGLGVLIILLSTMVTSITGLSTSAIATNGFVRGGGAYYLISRSLGPEFGGSIGLIFAFANAVAVAMYVVGFAETVVDLLK-------------ESDSMMVDPTNDIRII----------GSITVVILLGISVAGMEWEAKAQVILLVILLIAIANFFI-------------------GTVIPSNNE--------------------------------------------------------KKSRGFFNYQASIFAENFGPRFT----------------KGEG----------------FFSVFAIFFPAATGILAGANISGDLEDPQDAIPRGTMLAIFITTVAYLGVAICVGAC----VVRDATGNMNDTIISGM-NCNGSAACGLGYDFSRC-RHEPCQYGLMNNFQVMSMVSGFGP-LITAGIFSATLSSALASLVSAPKVFQALCKDNIYKALQFFAKGYGKNNEPLRGYILTFLIAMAFILIAELNTIAPIISNFFLASYALINFSCFHASYAK---SPGWRPAYGIYNMWVSLFGAVLCCAVMFVINWWAAVITYVIEFFLYVYVTCKKPDVNWGSSTQALSYVSALDNALELTTVEDHVKNFRPQCIVLTGGPM----TRPALLDITHAFTKNSGLCICCEVFVG------PRKLCVKEMNSGMAKKQAWLI---KNKIKAFYAAVAADCFRDGVRSLLQASGLGRMK-------------PNTLVIGYKKNWRKAPLTE----------------------------------------IENYVGIIHDAFDFEIGVVIVRISQGFDISQVLQVQEELERLEQER--------LALEATIKDN--------------ECEEESG--GIRGLFKKAGK-----LNITKTTPKKDGSINTSQSMHVGEFNQKLV----EASTQFKKKQEKGTIDVW-------------WL-----------FDDGGLTLL-IPYILTLRKKWKDCKLRIYV--------GGKINRIEEE----KIVMASLLSKFRIKFADIHII----GDINIRPNKESWKVFE---EMI--------EPYRLHESCKDLT--------------------------------------------------------------------TAEKLKRETPWKITDAELEAVK----------------------------EKSYRQVRLN------------ELLQEHSRAANLIVLSLPVARKGSISDLLYMAWLEILTKNL-PPVLLVRGNHKNVLTFYS-
SLC12A2   MEPRPTAPSSGAPGLAGVGETPSAAALAAARVELPGTAVPSVPEDAAPASRDGGGVRDEGPAAAGDGLGRPLGPTPSQSRFQVDLVSENAGRAAAAAAAAAAAAAAAGAGAGAKQTPADGEASGESEPAKGSEEAKGRFRVNF-----------VDP-------------------------------------------------AASSSAEDSLSDAAGVGVDGPNVSFQNGGDTVLSEGSSLHSGGGGGSGHHQHYYYDTHTNTYYLRTFGHNTMDAVPRIDHYRHTAAQLGEKLLRPSLAELHDELEKE---------------PFEDGFANGEESTPTRDAVVTYTAESKGVVKFGWIKGVLVRCMLNIWGVMLFIRLSWIVGQAGIGLSVLVIMMATVVTTITGLSTSAIATNGFVRGGGAYYLISRSLGPEFGGAIGLIFAFANAVAVAMYVVGFAETVVELLK-------------EHSILMIDEINDIRII----------GAITVVILLGISVAGMEWEAKAQIVLLVILLLAIGDFVI-------------------GTFIPLES---------------------------------------------------------KKPKGFFGYKSEIFNENFGPDFR----------------EEET----------------FFSVFAIFFPAATGILAGANISGDLADPQSAIPKGTLLAILITTLVYVGIAVSVGSC----VVRDATGNVNDTIVTELTNCT-SAACKLNFDFSSC-ESSPCSYGLMNNFQVMSMVSGFTP-LISAGIFSATLSSALASLVSAPKIFQALCKDNIYPAFQMFAKGYGKNNEPLRGYILTFLIALGFILIAELNVIAPIISNFFLASYALINFSVFHASLAK---SPGWRPAFKYYNMWISLLGAILCCIVMFVINWWAALLTYVIVLGLYIYVTYKKPDVNWGSSTQALTYLNALQHSIRLSGVEDHVKNFRPQCLVMTGAPN----SRPALLHLVHDFTKNVGLMICGHVHMG------PRRQAMKEMSIDQAKYQRWLI---KNKMKAFYAPVHADDLREGAQYLMQAAGLGRMK-------------PNTLVLGFKKDWLQADMRD----------------------------------------VDMYINLFHDAFDIQYGVVVIRLKEGLDISH-LQGQEELLS-SQEKSPGTKDVVVSVEYSKKSDLDTSKPLSEKPITHKVEEEDGKTATQPLLKKESKGPIVPLNVA---------------------DQKLL----EASTQFQKKQGKNTIDVW-------------WL-----------FDDGGLTLL-IPYLLTTKKKWKDCKIRVFI--------GGKINRIDHD----RRAMATLLSKFRIDFSDIMVL----GDINTKPKKENIIAFE---EII--------EPYRLHEDDKEQD--------------------------------------------------------------------IADKMKEDEPWRITDNELELYK----------------------------TKTYRQIRLN------------ELLKEHSSTANIIVMSLPVARKGAVSSALYMAWLEALSKDL-PPILLVRGNHQSVLTFYS-
SLC12A3   ------------------------------MAELPTTE--------TPG-----------------------DATLCSGRFTISTLLS-----------------------------SD------------------------------------EP-------------------------------------------------SPPAAYDSS------------------------------HPS------------HLTHSSTFCMRTFGYNTIDVVPTYEHYANSTQPGEPRKVRPTLADLHSFLKQEGRHLHALAFDSRPSHEMTDGLVEG-------EAGTSSEKNPEEPVRFGWVKGVMIRCMLNIWGVILYLRLPWITAQAGIVLTWIIILLSVTVTSITGLSISAISTNGKVKSGGTYFLISRSLGPELGGSIGLIFAFANAVGVAMHTVGFAETVRDLLQ-------------EYGAPIVDPINDIRII----------GVVSVTVLLAISLAGMEWESKAQVLFFLVIMVSFANYLV-------------------GTLIPPSED--------------------------------------------------------KASKGFFSYRADIFVQNLVPDWR----------------GPDGT---------------FFGMFSIFFPSATGILAGANISGDLKDPAIAIPKGTLMAIFWTTISYLAISATIGSC----VVRDASGVLNDTVTPGWGACE-GLACSYGWNFTECTQQHSCHYGLINYYQTMSMVSGFAP-LITAGIFGATLSSALACLVSAAKVFQCLCEDQLYPLIGFFGKGYGKNKEPVRGYLLAYAIAVAFIIIAELNTIAPIISNFFLCSYALINFSCFHASITN---SPGWRPSFQYYNKWAALFGAIISVVIMFLLTWWAALIAIGVVLFLLLYVIYKKPEVNWGSSVQAGSYNLALSYSVGLNEVEDHIKNYRPQCLVLTGPPN----FRPALVDFVGTFTRNLSLMICGHVLIG------PHKQRMPELQLIANGHTKWLN---KRKIKAFYSDVIAEDLRRGVQILMQAAGLGRMK-------------PNILVVGFKKNWQSAHPAT----------------------------------------VEDYIGILHDAFDFNYGVCVMRMREGLNVSKMMQAH-------------------------------INPVFDP-------AEDG---------KEASARGARPSVS------------------GALDPKALVKEEQATTIFQSEQGKKTIDIY-------------WL-----------FDDGGLTLL-IPYLLGRKRRWSKCKIRVFV--------GGQINRMDQE----RKAIISLLSKFRLGFHEVHIL----PDINQNPRAEHTKRFE---DMI--------APFRLNDGFKDEA--------------------------------------------------------------------TVNEMRRDCPWKISDEEITKNR----------------------------VKSLRQVRLN------------EIVLDYSRDAALIVITLPIGRKGKCPSSLYMAWLETLSQDLRPPVILIRGNQENVLTFYCQ
SLC12A4   ----------------------------------------------MP-------------------------------HFTVVPV----------------------------------DGPRRGD--------------------------------------------------------YDNLEGLSWVD-YGERAELDDSDGHGNHRESS--------------PFLSPLEASRGI-----------------DYYDRNLALF------EEELDI-------------------RPKVSSLLGKLVSYT------------------NLTQGAKEHEEAESGEGTRRRAAEAPSMGTLMGVYLPCLQNIFGVILFLRLTWMVGTAGVLQALLIVLICCCCTLLTAISMSAIATNGVVPAGGSYFMISRSLGPEFGGAVGLCFYLGTTFAAAMYILGAIEILLTYIAPPAAIFYPSGAHDTSNATL----NNMRVY----------GTIFLTFMTLVVFVGVKYVNKFASLFLACVIISILSIYAGGIK---------------SIFDPPVFPVCMLGNRTLSRDQFDICAKTAVVDNETVATQLWSFFCHSPNLTTDSCDPYFMLNNVTEIPGIPGAAAGVLQENLWSAYLEKGDIVEKHGLPSAD-APSLKESL-PLYVVADIATSFTVLVGIFFPSVTGIMAGSNRSGDLRDAQKSIPVGTILAIITTSLVYFSSVVLFGACIEGVVLRDKYG---DGVSRNL---------------------------------VVGTLAWPSPWVIVIGSFFSTCGAGLQSLTGAPRLLQAIAKDNIIPFLRVFGHG-KVNGEPTWALLLTALIAELGILIASLDMVAPILSMFFLMCYLFVNLACAVQTLLR---TPNWRPRFKYYHWALSFLGMSLCLALMFVSSWYYALVAMLIAGMIYKYIEYQGAEKEWGDGIRGLSLSAARYALLRLEEGPPHTKNWRPQLLVLLKLDEDLHVKYPRLLTFASQLKAGKGLTIVGSVIQGSFLESYGEAQAAEQ-------TIKNMM--EIEKVKGFCQVVVASKVREGLAHLIQSCGLGGMR-------------HNSVVLGWPYGWRQSEDPR---------------------------------------AWKTFIDTVRCTTAAHLALLVPK----------------------------------------------------------------------------------NIA-FYPS----------------NHERY--------------LEGHIDVW-------------WI-----------VHDGGMLML-LPFLLRQHKVWRKCRMRIFT-----------VAQMDDNSIQMKKDLAVFLYHLRLE-AEVEVVEMHNSDISAY-TYERTLMMEQRSQML--------RQMRLTKTERER-----------------------------------------EAQLVKDRHSALRLESLYSDEEDES---AVGADKIQMTWTRDKYMTETWD--PSHAPDNFRELVHIKP-----DQSNVRRMHTAVKLN------------EVIVTRSHDARLVLLNMPGPPRNSEGDENYMEFLEVLTEGL-ERVLLVRGGGREVITIYS-
SLC12A5   ----------------------------------------------MS------------------------------RRFTV------------------------------------TSLPPAGPARSPDPESR---------RHSVAD-PRHLP---------------------------------------GE-----DVKGDGNPKESS--------------PFINSTDTEKGK-----------------EYDGKNMALF------EEEMDT-------------------SPMVSSLLSGLANYT------------------NLPQGSREHEEAENNEGGKKKPVQAPRMGTFMGVYLPCLQNIFGVILFLRLTWVVGIAGIMESFCMVFICCSCTMLTAISMSAIATNGVVPAGGSYYMISRSLGPEFGGAVGLCFYLGTTFAGAMYILGTIEILLAYLFPAMAIFKAEDASGEAAAML----NNMRVY----------GTCVLTCMATVVFVGVKYVNKFALVFLGCVILSILAIYAGVIK---------------SAFDPPNFPICLLGNRTLSRHGFDVCAKLAWEGNETVTTRLWGLFCSSRFL-NATCDEYFTRNNVTEIQGIPGAASGLIKENLWSSYLTKGVIVERSGMTSVGLADGTPIDMDHPYVFSDMTSYFTLLVGIYFPSVTGIMAGSNRSGDLRDAQKSIPTGTILAIATTSAVYISSVVLFGACIEGVVLRDKFG---EAVNGNL---------------------------------VVGTLAWPSPWVIVIGSFFSTCGAGLQSLTGAPRLLQAISRDGIVPFLQVFGHG-KANGEPTWALLLTACICEIGILIASLDEVAPILSMFFLMCYMFVNLACAVQTLLR---TPNWRPRFRYYHWTLSFLGMSLCLALMFICSWYYALVAMLIAGLIYKYIEYRGAEKEWGDGIRGLSLSAARYALLRLEEGPPHTKNWRPQLLVLVRVDQDQNVVHPQLLSLTSQLKAGKGLTIVGSVLEGTFLENHPQAQRAEE-------SIRRLM--EAEKVKGFCQVVISSNLRDGVSHLIQSGGLGGLQ-------------HNTVLVGWPRNWRQKEDHQ---------------------------------------TWRNFIELVRETTAGHLALLVTK----------------------------------------------------------------------------------NVS-MFPG----------------NPERF--------------SEGSIDVW-------------WI-----------VHDGGMLML-LPFLLRHHKVWRKCKMRIFT-----------VAQMDDNSIQMKKDLTTFLYHLRIT-AEVEVVEMHESDISAY-TYEKTLVMEQRSQIL--------KQMHLTKNEREREIQSITDESRGSIRRKNPANTRLRLNVPEETAGDSEEKPEEEVQLIHDQSAPSCPSSSPSPGEEPEGEGETDPEKVHLTWTKDKSVAEKNKGPSPVSSEGIKDFFSMKPEWENLNQSNVRRMHTAVRLN------------EVIVKKSRDAKLVLLNMPGPPRNRNGDENYMEFLEVLTEHL-DRVMLVRGGGREVITIYS-
SLC12A6   ---------------------------------------------MHPPET---------------------TTKMASVRFMVTPTKI-------------------------------DDIPGLSDT-SPDLSSRSSSRVRFSSRESVPETSRSEPMSEMSGATTSLATVALDPPSDRTSHPQDVIEDLSQNSITGEHSQLLD-DGHKKARNA----------------YLNNSNYEEGD-----------------EYFDKNLALF------EEEMDT-------------------RPKVSSLLNRMANYT------------------NLTQGAKEHEEAENITEGKKKPTKTPQMGTFMGVYLPCLQNIFGVILFLRLTWVVGTAGVLQAFAIVLICCCCTMLTAISMSAIATNGVVPAGGSYFMISRALGPEFGGAVGLCFYLGTTFAAAMYILGAIEIFLVYIVPRAAIFHSDDALKESAAML----NNMRVY----------GTAFLVLMVLVVFIGVRYVNKFASLFLACVIVSILAIYAGAIK---------------SSFAPPHFPVCMLGNRTLSSRHIDVCSKTKEINNMTVPSKLWGFFCNSSQFFNATCDEYFVHNNVTSIQGIPGLASGIITENLWSNYLPKGEIIEK---PSAK-SSDVLGSLNHEYVLVDITTSFTLLVGIFFPSVTGIMAGSNRSGDLKDAQKSIPIGTILAILTTSFVYLSNVVLFGACIEGVVLRDKFG---DAVKGNL---------------------------------VVGTLSWPSPWVIVIGSFFSTCGAGLQSLTGAPRLLQAIAKDNIIPFLRVFGHS-KANGEPTWALLLTAAIAELGILIASLDLVAPILSMFFLMCYLFVNLACALQTLLR---TPNWRPRFRYYHWALSFMGMSICLALMFISSWYYAIVAMVIAGMIYKYIEYQGAEKEWGDGIRGLSLSAARFALLRLEEGPPHTKNWRPQLLVLLKLDEDLHVKHPRLLTFASQLKAGKGLTIVGSVIVGNFLENYGEALAAEQ-------TIKHLM--EAEKVKGFCQLVVAAKLREGISHLIQSCGLGGMK-------------HNTVVMGWPNGWRQSEDAR---------------------------------------AWKTFIGTVRVTTAAHLALLVAK----------------------------------------------------------------------------------NIS-FFPS----------------NVEQF--------------SEGNIDVW-------------WI-----------VHDGGMLML-LPFLLKQHKVWRKCSIRIFT-----------VAQLEDNSIQMKKDLATFLYHLRIE-AEVEVVEMHDSDISAY-TYERTLMMEQRSQML--------RHMRLSKTERDR-----------------------------------------EAQLVKDRNSMLRLTSIGSDEDEET---ETYQEKVHMTWTKDKYMASRGQ--KAKSMEGFQDLLNMRP-----DQSNVRRMHTAVKLN------------EVIVNKSHEAKLVLLNMPGPPRNPEGDENYMEFLEVLTEGL-ERVLLVRGGGSEVITIYS-
SLC12A7   ----------------------------------------------MP------------------------------TNFTVVPVEAHAD-------------------GGGDETAERTEAP--GTPEGPEPE-------------------RPSP-------------------------------------------------GDGNPRENS--------------PFLNNVEVEQES-----------------FFEGKNMALF------EEEMDS-------------------NPMVSSLLNKLANYT------------------NLSQGVVEHEE---DEESRRREAKAPRMGTFIGVYLPCLQNILGVILFLRLTWIVGVAGVLESFLIVAMCCTCTMLTAISMSAIATNGVVPAGGSYYMISRSLGPEFGGAVGLCFYLGTTFAGAMYILGTIEIFLTYISPGAAIFQAEAAGGEAAAML----HNMRVY----------GTCTLVLMALVVFVGVKYVNKLALVFLACVVLSILAIYAGVIK---------------SAFDPPDIPVCLLGNRTLSRRSFDACVKAYGIHNNSATSALWGLFCNGSQP-SAACDEYFIQNNVTEIQGIPGAASGVFLENLWSTYAHAGAFVEKKGVPSVPVAEESRASA-LPYVLTDIAASFTLLVGIYFPSVTGIMAGSNRSGDLKDAQKSIPTGTILAIVTTSFIYLSCIVLFGACIEGVVLRDKFG---EALQGNL---------------------------------VIGMLAWPSPWVIVIGSFFSTCGAGLQSLTGAPRLLQAIARDGIVPFLQVFGHG-KANGEPTWALLLTVLICETGILIASLDSVAPILSMFFLMCYLFVNLACAVQTLLR---TPNWRPRFKFYHWTLSFLGMSLCLALMFICSWYYALSAMLIAGCIYKYIEYRGAEKEWGDGIRGLSLNAARYALLRVEHGPPHTKNWRPQVLVMLNLDAEQAVKHPRLLSFTSQLKAGKGLTIVGSVLEGTYLDKHMEAQRAEE-------NIRSLM--STEKTKGFCQLVVSSSLRDGMSHLIQSAGLGGLK-------------HNTVLMAWPASWKQEDNPF---------------------------------------SWKNFVDTVRDTTAAHQALLVAK----------------------------------------------------------------------------------NVD-SFPQ----------------NQERF--------------GGGHIDVW-------------WI-----------VHDGGMLML-LPFLLRQHKVWRKCRMRIFT-----------VAQVDDNSIQMKKDLQMFLYHLRIS-AEVEVVEMVENDISAF-TYERTLMMEQRSQML--------KQMQLSKNEQER-----------------------------------------EAQLIHDRNTASHTAAAARTQAPPT------PDKVQMTWTREKLIAEKYRS-RDTSLSGFKDLFSMKP-----DQSNVRRMHTAVKLN------------GVVLNKSQDAQLVLLNMPGPPKNRQGDENYMEFLEVLTEGL-NRVLLVRGGGREVITIYS-
SLC12A8   -------------------------------------------------------------------------------MTQMSQVQE------------------------------------------------------------------------------------L---------------------------------FHEAAQQDALA----------------------------QPQ----------PWWKTQLFMW-------------------------------EPVL--------------------------------------------------------FGTWDGVFTSCMINIFGVVLFLRTGWLVGNTGVLLGMFLVSFVILVALVTVLSGIGVGERSSIGSGGVYSMISSVLGGQTGGTIGLLYVFGQCVAGAMYITGFAESISDLLGL----------------------GNIWAV-RGI------SVAVLLALLGINLAGVKWIIRLQLLLLFLLAVSTLDFVV-------------------GSFTHLDPE-----------------------------------------------------------HGFIGYSPELLQNNTLPDYS-----------PG---------------------ESFFTVFGVFFPAATGVMAGFNMGGDLREPAASIPLGSLAAVGISWFLYIVFVFLLGAI----CTREALR----------------------YDFL-----------------IAEKVSLMGF-LFLLGLYISSLASCMGGLYGAPRILQCIAQEKVIPALACLGQGKGPNKTPVAAICLTSLVTMAFVFVGQVNVLAPIVTINFMLTYVAVDYSYFSLSMCSCSLTPVPEPVLR--------------------------------------------------EGAEGLHCSEH----LLLEKAPSYGSE-GPAQRVLEGTLLEFTKDMDQLLQLTRKLESS--------------QPRQGEGNRTPE----------------SQKRKS----------KKATKQTLQDSFLLDLKSPPSFPVEISDRLPAASWEGQESCWNKQTSKS---------------------------------------------------------------------------------------------------------------------------EG-----------------------TQPE---------GTYGEQLVPELCNQSESSGEDFFLKSRLQEQDVWRRSTSFYTHMCNPWVSLL--------GAVGSLLIM---FVI----QW------VYTL------------------VNMGVAAIVYFYIGRAS-PGLHLG-----------SASNFSFFRWMRSLLL-------PSCRSLRSPQEQIIL--------------------------------------------------------------------------------------------------------------------APSLAKVDMEMT----------QLTQENADFA---------------------------TRDRYHHSSLV--NREQLMPHY--
SLC12A9   -----------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------MASESS-------------------------------------------------------------------------------------PLLA--YRLLGEEGVALP----------------ANG-AGGPGGASAR----------KLSTFLGVVVPTVLSMFSIVVFLRIGFVVGHAGLLQALAMLLVAYFILALTVLSVCAIATNGAVQGGGAYFMISRTLGPEVGGSIGLMFYLANVCGCAVSLLGLVESVLDVF----------------GADATGP-SGLRVLPQGYGWNLLYGSLLLGLVGGVCTLGAGLYARASFLTFLLVSGSLASVLISFVAVGPRDIRLTPRPGPNGSSLPPRF------------------------------------------------------------GHFTGFNSSTLKDNLGAGYA----------------EDYTTGAV----------MNFASVFAVLFNGCTGIMAGANMSGELKDPSRAIPLGTIVAVAYTFFVYVLL----------------------FFLSSF-TCD-RTLLQEDYGFFRA-------------------ISLWPP-LVLIGIYATALSASMSSLIGASRILHALARDDLFGVILAPAKVVSRGGNPWAAVLYSWGLVQLVLLAGKLNTLAAVVTVFYLVAYAAVDLSCLSLEWAS---APNFRPTFSLFSWHTCLLGVASCLLMMFLISPGAAGGSLLLMGLLAALLTARGGPSSWGYVSQALLFHQVRKYLLRLDVRKDHVKFWRPQLLLLVGNPR----GALPLLRLANQLKKG-GLYVLGHVTLGD-LDSLPSDPVQPQ-------YGAWLSLVDRAQVKAFVDLTLSPSVRQGAQHLLRISGLGGMK-------------PNTLVLGF---YDDAPPQDHFLTDPAFSEPADSTREGSSPALSTLFPPPRAPGSPRALNPQDYVATVADALKMNKNVVLARAS-----------------------------------------------------------------------------------------------------GALPPERLSRGSGGTSQLHH------VDVW-------------PLNLLRPRGGPGYVDVCGLFLLQMATILGMVPAWHSARLRIFLCLGPREAPGAAEGRLR-----------ALLSQLRI-------------------RAE----VQ---EVVWGEGAGAGEP----EAEEEGD--------------------------------------------------------------------FVNSGR-------GDAEAEALA----------------------------RSANALVRAQQGRGTGGGPGGPEGGDAEGPITALTFLYLPRPPADPARYPRYLALLETLTRDL-GPTLLVHGVTPVTCTDL--

Variant

check	gene name	residue number	Reference Amino Acid / Variant Amino Acid	minor allele frequency	rs number
--	SLC12A1	20	R/H	0.000636677	rs34661166
--	SLC12A1	24	S/N	0.00107852	rs35342218
--	SLC12A1	69	C/F	0.000242927	rs143141941
--	SLC12A1	75	Q/R	0.000179207	rs745886395
--	SLC12A1	116	R/H	0.00346103	rs34819316
--	SLC12A1	132	L/F	0.000114845	rs752324675
--	SLC12A1	139	A/T	0.000634419	rs144128875
--	SLC12A1	149	A/T	0.000139933	rs116848967
--	SLC12A1	155	G/S	0.000191748	rs145003411
--	SLC12A1	164	A/T	0.000131634	rs749613571
--	SLC12A1	223	T/M	0.000170599	rs377680472
--	SLC12A1	232	A/V	0.00260484	rs188295259
--	SLC12A1	235	T/M	0.000101102	rs542887375
--	SLC12A1	241	G/R	0.000120133	rs758055353
--	SLC12A1	373	R/H	0.000282927	rs150258541
--	SLC12A1	411	G/E	0.000448068	rs369366907
--	SLC12A1	699	D/N	0.000903749	rs528775721
--	SLC12A1	700	I/L	0.000127402	rs768048553
--	SLC12A1	721	R/C	0.000167396	rs143401237
--	SLC12A1	733	A/V	0.00851313	rs141858745
--	SLC12A1	737	A/T	0.000262881	rs138382420
--	SLC12A1	737	A/V	0.00352884	rs78648980
--	SLC12A1	752	A/V	0.00108358	rs137893258
--	SLC12A1	760	V/I	0.000282925	rs763036680
--	SLC12A1	763	L/V	0.000290992	rs148689126
--	SLC12A1	788	A/T	0.000207611	rs141282557
--	SLC12A1	812	I/T	0.000127723	rs201516084
--	SLC12A1	858	R/L	0.000123476	rs140747686
--	SLC12A1	1038	R/Q	0.000115704	rs141652885
--	SLC12A1	1069	L/F	0.000175253	rs755737521

Phylogenetic tree

Pathway

Priority	Gene Name	Reactome (Gene)	Reactome (Pathway)
main	SLC12A1	SLC12A1 [plasma membrane]	Cation-coupled Chloride cotransporters

Disease

Gene Name	Reactome (Gene)	Reactome (Pathway)
SLC12A1	SLC12A1 R302Q [plasma membrane]	Defective SLC12A1 causes Bartter syndrome 1 (BS1)
SLC12A1	SLC12A1 W625* [plasma membrane]	Defective SLC12A1 causes Bartter syndrome 1 (BS1)
SLC12A1	SLC12A1 V278F [plasma membrane]	Defective SLC12A1 causes Bartter syndrome 1 (BS1)
SLC12A1	SLC12A1 Y998* [plasma membrane]	Defective SLC12A1 causes Bartter syndrome 1 (BS1)
SLC12A1	SLC12A1 D648N [plasma membrane]	Defective SLC12A1 causes Bartter syndrome 1 (BS1)
SLC12A1	SLC12A1 G319R [plasma membrane]	Defective SLC12A1 causes Bartter syndrome 1 (BS1)