Detail Data SLC4A1

Basic description

Gene Name	SLC4A1
Protein Name	Band 3 anion transport protein (Anion exchange protein 1) (AE 1) (Anion exchanger 1) (Solute carrier family 4 member 1) (CD antigen CD233)
Family	SLC4
Category	Transport of inorganic cations/anions and amino acids/oligopeptides
Reaction name	-
Reaction	-

Network

Structure

Sequence

[Overview]

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MEELQDDYED MMEENLEQEE YEDPDIPESQ MEEPAAHDTE ATATDYHTTS HPGTHKVYVE LQELVMDEKN QELRWMEAAR WVQLEENLGE NGAWGRPHLS HLTFWSLLEL RRVFTKGTVL LDLQETSLAG VANQLLDRFI FEDQIRPQDR EELLRALLLK HSHAGELEAL GGVKPAVLTR SGDPSQPLLP QHSSLETQLF CEQGDGGTEG HSPSGILEKI PPDSEATLVL VGRADFLEQP VLGFVRLQEA AELEAVELPV PIRFLFVLLG PEAPHIDYTQ LGRAAATLMS ERVFRIDAYM AQSRGELLHS LEGFLDCSLV LPPTDAPSEQ ALLSLVPVQR ELLRRRYQSS PAKPDSSFYK GLDLNGGPDD PLQQTGQLFG GLVRDIRRRY PYYLSDITDA FSPQVLAAVI FIYFAALSPA ITFGGLLGEK TRNQMGVSEL LISTAVQGIL FALLGAQPLL VVGFSGPLLV FEEAFFSFCE TNGLEYIVGR VWIGFWLILL VVLVVAFEGS FLVRFISRYT QEIFSFLISL IFIYETFSKL IKIFQDHPLQ KTYNYNVLMV PKPQGPLPNT ALLSLVLMAG TFFFAMMLRK FKNSSYFPGK LRRVIGDFGV PISILIMVLV DFFIQDTYTQ KLSVPDGFKV SNSSARGWVI HPLGLRSEFP IWMMFASALP ALLVFILIFL ESQITTLIVS KPERKMVKGS GFHLDLLLVV GMGGVAALFG MPWLSATTVR SVTHANALTV MGKASTPGAA AQIQEVKEQR ISGLLVAVLV GLSILMEPIL SRIPLAVLFG IFLYMGVTSL SGIQLFDRIL LLFKPPKYHP DVPYVKRVKT WRMHLFTGIQ IICLAVLWVV KSTPASLALP FVLILTVPLR RVLLPLIFRN VELQCLDADD AKATFDEEEG RDEYDEVAMP V 
CCHHHHHHHH HHHHCCCCCC CCCCCCCHHH CCCCCCCCCC CCCCCCCCCC CCCCCEEEEE HHEEEECCCC CEEEHHHHHH HHHHHHHHCC CCCCCCCCCC CCCHHHHHHH HHHHHHCCCC CCCCCCCHHH HHHHHHHHHH HCCCCCHHHH HHHHHHHHHH HCCCCHHHHH CCCCCEEEEC CCCCCCCCCC CCCCCCEECH HCCCCCCCCC CCCCCCCCCC CCCCCCEEEE EEEECCCCCC CEEEECHHHC HHCCCCCCCC CEEEEEEECC CCCCCCCHHH HHHHHHHCCC CHHHHHHHHH CCCHHHHHHH HHHHHHCCCC CCCCCCCCHH HHHHHHCHHH HHHHHCCCCC CCCCCCCCCC CCCCCCCCCC HHHCCCCCHH HHHHCHHHCC CCCCCCCCCC CCHHHHHHHH HHHHHHHCCH HHHHHCCCCC CCCCCCHHHH HHHHHHHHHH HHHHCCCCHH HHCCCCCCCH HHHHHHHHHH HCCCHHHHHH HHHHHHHHHH HHHHHHCCCC HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHCCCC CCCCCCCCCC CCCCCCCCCH HHHHHHHHHH HHHHHHHHHH CCCCCCCCHH HHHHHHCCCC CHHHHHHHHH HHHCCCCCCC CEECCCCCCC CCCCCCCEEC CCCCCCCCCC HHHHHHHHHH HHHHHHHHHH HHHHHHHHHC CCHHCCCCCC CCHHHHHHHH HHHHHHHHHC CCCCCCHHHC CCCHHHHCEE ECCCCCCCCC HHHCEEEEEC CCHHHHHHHH HHHHHHHHHH CCCCHHHHHC CEECCCCCCC CCCCCHHHHH HHCCCCCCCC CCCHHHCCHH HHHHHHHHHH HHHHHHHHHH HCCHHHHHHH HHHHHHHHHH HHHHHHCCCH HHHHHCCHHH CCCCCCCCCC CCCCCCCCCC C

Family alignment

[Overview]

SLC4A1    --------------------------------MEELQD--D----------YEDMMEE-------------NLEQEEY-----------------------------------------------------EDPDIPE-------SQMEEPAAHDTE-------------------------------------------------------------------------------------------------------------------------------------------------ATATDYHTTSH-----PGT-----------------------------------------HKVYVELQELVMDEKNQELRWMEAA------------------------RWVQLEENLGENGA-WGRPHLSHLTFWSLLELRRVFTKGTVLLDLQETSLAGVANQLLDRFIFEDQIRPQDREELLRALLLKHSH---------------AGELEALGGVKPAVLTRS---------------------------------------------------------GDP--SQPLL---------------------------------------------------------------PQ---------------------HSSLETQLFCEQGDGGT--------------EGHSPSGI------------LEKIPPDSEATLV----------LVGRADFLEQPVLGFVRLQEAAELEAV-ELPVPIRFLFVLLGP--EAPHIDYTQLGRAAATLMSERVFRIDAYMAQSRGELLHSLEGFLDCSLVLPPTDAPSEQALLSLVPVQRELLRRR--YQSSPAKP-----------DSSFYKGLDLNGG-----------------------------P-----DDPLQQTGQLFGGLVRDIRRRYPYYLSDITDAF------SPQVLAAVIFIYFAALSPAITFGGLLGEKTRNQMGVSELLISTAVQGILFALLGAQPLLVVGFSGPLLVFEEAFFSFCETNGLEYIVGRVWIGFWLILLVVLVVAFEGSFLVRFISRYTQEIFSFLISLIFIYETFSKLIKIFQDHPLQKTY---------------------------N-------YNVLMVP-------------------------------KPQGP--------LPNTALLSLVLMAGTFFFAMMLRKFKNSSYFPGKLRRVIGDFGVPISILIMVLVDFFIQDTYTQKLSVPDGFKVSNSSARGWVIHPLGLRS--EFPIWMMFASALPALLVFILIFLESQITTLIVSKPERKMVKGSGFHLDLLLVVGMGGVAALFGMPWLSATTVRSVTHANALTVMGKASTPGA-AAQIQEVKEQRISGLLVAVLVGLSILMEPI-LSRIPLAVLFGIFLYMGVTSLSGIQ----------------LFDRILLLFKPPKYHPDVPYVKRVKTWRMHLFTGIQIICLAVLWVVKSTP---ASLALPFVLILTVPLRRVLLPLIFRNVELQCLDADDAKAT----FDEEEGRDEYDE-----------------------VAMPV--------------------------------------------------------
SLC4A10   MEIKDQGAQM------EP----------LLPTRNDEEAVVD-RGGTRSILKTH-----------------FEKEDLEGHRTLFIGVHVPLGGR-----KSHRRHRHRGHKHRKRD---------------------------------RERDSGL-EDGRES------PSFDTPSQRVQFILGTED------DDEEHI-------------------------------------------------------------------------------------------------------------------------------------------------------------------PHDLFTELDEICWR-EGEDAEWRETA------------------------RWLKFEEDVEDGGERWSKPYVATLSLHSLFELRSCILNGTVLLDMHANTLEEIADMVLDQQVSSGQLNEDVRHRVHEALMKQHHHQNQKKLTNRIPIVRSFADIGKKQSEPNSMDKNA-----------------------------------------------------------------------------------------------------------------------------GQVVSPQSAPAC-VENK---------NDVSRENSTVDFSKGLGGQQKGHTSPCGMKQRHEKGPPHQQER----EVDLHFMKKIPPGAEASNI----------LVGELEFLDRTVVAFVRLSPAVLLQGLAEVPIPTRFLFILLGP--LGKGQQYHEIGRSIATLMTDEVFHDVAYKAKDRNDLVSGIDEFLDQVTVLPPGEWDPSIRIEPPKNVPSQEKRKI------PAVPNGTAAHGEAEPH----------GGHSG---------------------------------PELQRTGRIFGGLILDIKRKAPYFWSDFRDAF------SLQCLASFLFLYCACMSPVITFGGLLGEATEGRISAIESLFGASMTGIAYSLFGGQPLTILGSTGPVLVFEKILFKFCKEYGLSYLSLRASIGLWTATLCIILVATDASSLVCYITRFTEEAFASLICIIFIYEALEKLFELSEAYPINMHNDLELLTQYSCNCVEPHNPSNGTLKEWRE-------SNISASDII------WENL-TVSECKS--------LHGEYVGRACGHDHPYVPDVLFWSVILFFSTVTLSATLKQFKTSRYFPTKVRSIVSDFAVFLTILCMVLIDYAI-GIPSPKLQVPSVFKPTRDD-RGWFVTPLGPN-----PWWTVIAAIIPALLCTILIFMDQQITAVIINRKEHKLKKGCGYHLDLLMVAVMLGVCSIMGLPWFVAATVLSITHVNSLKLESECSAPGE-QPKFLGIREQRVTGLMIFILMGSSVFMTSI-LKFIPMPVLYGVFLYMGASSLKGIQ----------------FFDRIKLFWMPAKHQPDFIYLRHVPLRKVHLFTIIQMSCLGLLWIIKVSR---AAIVFPMMVLALVFVRK-LMDLLFTKRELSWLDDLMPESK-KKKLEDAEK--EEEQ---SMLAMEDEGTVQLPLEGHY----------------RDDPSV-INIS--DEMSKTALWRNLLITADNSKDKESSFPSKSSPS
SLC4A11   MG------------VYGPQ------------DRSESEK-RD-------------VQRDPPPW--------HPRREGE------------------RPARARSLPLAAAGQGFLRK-TW---------------------------ISEHENSPTMSQNGYFEDSSYYKCDTDDTFEAREEILGDE------AFDTANS--------------------------------------------------------------------------------------------------------------------------------------SIVSGE-----------------------SIRFFVNVNL-----EMQATNTENEATSGGCVLL------------HTSRKYLKLKNFKEE--------------IRAHRDLDGFLAQASIVLNETATSL----------------------DNVLRTMLRRFARDPDN-------------------------------------------------------------------------------------------NEP--------------------------------------------------------------------------------------------NCNLDLLMAMLFT--------------DAGAPMRGK--------VHLLSDTIQGVTATVTGVRYQQSWLCIICTMKALQKRHVCISRLVRPQNWG---ENSCEVRFVILVLAPPKMKSTKTAMEVARTFATMFSDIAFRQKLLETRTEEEFKEALVHQRQLLTMVSHGPVAPRTKERSTVSLPAHRHPEP---------------------------------------------------------------PK----CKDFVPFGK---GIREDIARRFPLYPLDFTDGIIGKNKAVGKYITTTLFLYFACLLPTIAFGSLNDENTDGAIDVQKTIAGQSIGGLLYALFSGQPLVILLTTAPLALYIQVIRVICDDYDLDFNSFYAWTGLWNSFFLALYAFFNLSLVMSLFKRSTEEIIALFISITFVLDAVKGTVKIFWKYYYGHYLD-DYHTKRTSSLVSL-SGLGASLNASLH------------------TALNASFLASPTELPS----------ATHSGQA----------TAVLSLLIMLGTLWLGYTLYQFKKSPYLHPCVREILSDCALPIAVLAFSLISSH--GFREIEM---SKFRYNPSE------SPFAMAQIQSLSLRAVSGAMGLGFLLSMLFFIEQNLVAALVNAPENRLVKGTAYHWDLLLLAIINTGLSLFGLPWIHAAYPHSPLHVRALALVEERVENGHIYDTIVNVKETRLTSLGASVLVGLSLLLLPVPLQWIPKPVLYGLFLYIALTSLDGNQ----------------LVQRVALLLKEQTAYPPTHYIRRVPQRKIHYFTGLQVLQLLLLCAFGMSSLPYMKMIFPLIMIAMIPIRYILLPRII---EAKYLDVMDAEHR------------------------------------------P---------------------------------------------------------
SLC4A2    MSSAPRRPAKGADSFCTPE---PESLGPGTPGFPEQEE--DELHRTLGVERFEEILQEAGSRGGEEPGRSYGEEDFEYHRQSSHHIHHPLSTHLPPDARRRKTPQGPGRKPRR----------RPGASPTGETPTIEE-------GEEDEDEASEAEGARAL----TQPSPVSTPSSVQFFLQEDDSADRKAERTSPSSPA------PLPHQEATPRASKGAQAGTQVEEAEAEAVAVASGTAGGDDGGASGRPL-PKAQPGHRSYNLQER----RRIGSMTGAEQALLPRVPTDEIEAQTLATADLDLMKSHRFEDVPGVRRHLVRKNAKGSTQSGREGREPGPTPRARPRAPHK-----PHEVFVELNELLLD-KNQEPQWRETA------------------------RWIKFEEDVEEETERWGKPHVASLSFRSLLELRRTLAHGAVLLDLDQQTLPGVAHQVVEQMVISDQIKAEDRANVLRALLLKHSHPSDEKDFS-FPRNISAGSLGSLLGHHHGQGAES----------------------------------------------------------DPHVTEPLMG---------------------------------------------------------G---VP--------------------------ETRLEVERERELP--------------PPAPPAGIT-RSKSKHELKLLEKIPENAEATVV----------LVGCVEFLSRPTMAFVRLREAVELDAVLEVPVPVRFLFLLLGP--SSANMDYHEIGRSISTLMSDKQFHEAAYLADEREDLLTAINAFLDCSVVLPPSEVQGEELLRSVAHFQRQMLKKR--EEQGRLLPTGAGLEPKSAQDKALLQMVEAAGA-----------------------------AE----DDPLRRTGRPFGGLIRDVRRRYPHYLSDFRDAL------DPQCLAAVIFIYFAALSPAITFGGLLGEKTQDLIGVSELIMSTALQGVVFCLLGAQPLLVIGFSGPLLVFEEAFFSFCSSNHLEYLVGRVWIGFWLVFLALLMVALEGSFLVRFVSRFTQEIFAFLISLIFIYETFYKLVKIFQEHPLHGCS---------------------------A-------SNSSEVDGG--ENMTWAGA-RPTLGPGNRSLAGQSGQGKPRGQ---------PNTALLSLVLMAGTFFIAFFLRKFKNSRFFPGRIRRVIGDFGVPIAILIMVLVDYSIEDTYTQKLSVPSGFSVTAPEKRGWVINPLGEKS--PFPVWMMVASLLPAILVFILIFMETQITTLIISKKERMLQKGSGFHLDLLLIVAMGGICALFGLPWLAAATVRSVTHANALTVMSKAVAPGD-KPKIQEVKEQRVTGLLVALLVGLSIVIGDL-LRQIPLAVLFGIFLYMGVTSLNGIQ----------------FYERLHLLLMPPKHHPDVTYVKKVRTLRMHLFTALQLLCLALLWAVMSTA---ASLAFPFILILTVPLRMVVLTRIFTDREMKCLDANEAEPV----FDEREGVDEYNE-----------------------MPMPV--------------------------------------------------------
SLC4A3    MANGVIPPPGGASPL--PQVRVPLEEPPLSPDVEEEDD--D-LGKTLAVSRFGDLISKPPAWDPEKPSRSYSERDFEFHRHTSHHTHHPLSARLPPPHKLRRLPPTSARHTRRKR-----KKEKTSAPPSEGTPPIQEEGGAGVDEEEEEEEEEEGESEAEP----VEPPPSGTPQKAKFSIGSD-------EDDSPGLPGRAAVTKPLP--SVGPHTDKSPQHSSSSPSPRARASRLA---------GEKSRPWSPSA-----SYDLRERLCPGSALGNPGGPEQ----QVPTDEAEAQMLGSADLDDMKSHRLEDNPGVRRHLVKKPSR--TQGGR-GSPSGLAPILRRKKKKKKLDRRPHEVFVELNELMLD-RSQEPHWRETA------------------------RWIKFEEDVEEETERWGKPHVASLSFRSLLELRRTIAHGAALLDLEQTTLPGIAHLVVETMIVSDQIRPEDRASVLRTLLLKHSHPNDDKDSGFFPRNPSSSSMNSVLGNHHPTPSHG---------------------------------------------------------PDG--AVPTMADDL------------------------------------------------------G---EPAPLWPH---------------DPDAKEKPL-------------------------HMPGGDGHRGKS---LKLLEKIPEDAEATVV----------LVGCVPFLEQPAAAFVRLNEAVLLESVLEVPVPVRFLFVMLGP--SHTSTDYHELGRSIATLMSDKLFHEAAYQADDRQDLLSAISEFLDGSIVIPPSEVEGRDLLRSVAAFQRELLRKR--REREQTKVEMTTRGGYTAPGKEL--SLELGGSEAT--------------------------PE----DDPLLRTGSVFGGLVRDVRRRYPHYPSDLRDAL------HSQCVAAVLFIYFAALSPAITFGGLLGEKTEGLMGVSELIVSTAVLGVLFSLLGAQPLLVVGFSGPLLVFEEAFFKFCRAQDLEYLTGRVWVGLWLVVFVLALVAAEGSFLVRYISPFTQEIFAFLISLIFIYETFYKLYKVFTEHPLLPFYP-------------PEGALEGSLDAGLE-------PNGSALP--------------PTEGPP-----------SPRNQ---------PNTALLSLILMLGTFFIAFFLRKFRNSRFLGGKARRIIGDFGIPISILVMVLVDYSITDTYTQKLTVPTGLSVTSPDKRSWFIPPLGSAR--PFPPWMMVAAAVPALLVLILIFMETQITALIVSQKARRLLKGSGFHLDLLLIGSLGGLCGLFGLPWLTAATVRSVTHVNALTVMRTAIAPGD-KPQIQEVREQRVTGVLIASLVGLSIVMGAV-LRRIPLAVLFGIFLYMGVTSLSGIQ----------------LSQRLLLILMPAKHHPEQPYVTKVKTWRMHLFTCIQLGCIALLWVVKSTA---ASLAFPFLLLLTVPLRHCLLPRLFQDRELQALDSEDAEPN----FDE-DGQDEYNE-----------------------LHMPV--------------------------------------------------------
SLC4A4    ---------------------------------MEDEAVLD-RGASFLKHV-------------------CDEEEVEGHHTIYIGVHVPKSYR-----RRRRHKRKTGHKEKKEK----------------------ER------ISENYSDKSDIENADESSSSILKPLISPAAERIRFILGEE--------DDSPA-------------------------------------------------------------------------------------------------------------------------------------------------------------------PPQLFTELDELLAV-DGQEMEWKETA------------------------RWIKFEEKVEQGGERWSKPHVATLSLHSLFELRTCMEKGSIMLDREASSLPQLVEMIVDHQIETGLLKPELKDKVTYTLLRKHRHQTKK------SNLRSLADIGKTVSSASRMFTNP----------------------------------------------------------DN--GSPAMTHR-----------------------------------------------------------NLTSSSLN------------------------DISD----------------------KPEKDQ------LKNKFMKKLPRDAEASNV----------LVGEVDFLDTPFIAFVRLQQAVMLGALTEVPVPTRFLFILLGP--KGKAKSYHEIGRAIATLMSDEVFHDIAYKAKDRHDLIAGIDEFLDEVIVLPPGEWDPAIRIEPPKSLPSSDKRKNMYSGGENVQMNGDT-----PHD----------GGHGGGGHGDC---------------------------EELQRTGRFCGGLIKDIKRKAPFFASDFYDAL------NIQALSAILFIYLATVTNAITFGGLLGDATDNMQGVLESFLGTAVSGAIFCLFAGQPLTILSSTGPVLVFERLLFNFSKDNNFDYLEFRLWIGLWSAFLCLILVATDASFLVQYFTRFTEEGFSSLISFIFIYDAFKKMIKLADYYPINSNFKVGYNTLFSCTCVPP-DPANISISNDTT-LAPEYLPTMSSTDMYHNTTFDWAFL-SKKECSK--------YGGNLVGNNCN----FVPDITLMSFILFLGTYTSSMALKKFKTSPYFPTTARKLISDFAIILSILIFCVIDALV-GVDTPKLIVPSEFKPTSPN-RGWFVPPFGEN-----PWWVCLAAAIPALLVTILIFMDQQITAVIVNRKEHKLKKGAGYHLDLFWVAILMVICSLMALPWYVAATVISIAHIDSLKMETETSAPGE-QPKFLGVREQRVTGTLVFILTGLSVFMAPI-LKFIPMPVLYGVFLYMGVASLNGVQ----------------FMDRLKLLLMPLKHQPDFIYLRHVPLRRVHLFTFLQVLCLALLWILKSTV---AAIIFPVMILALVAVRK-GMDYLFSQHDLSFLDDVIPEKDKKKKEDEKKKKKKKGSLDSDNDDSDCPYSEKVPS-----IKIPMDIMEQQPFLSDSKPSD--------------------------RERSPTFLERHTSC
SLC4A5    MK------------------------------VKEEKA-----GVGKLDHTNHR-------------RRFPDQKECP---PIHIGLPVP-TYP-----QRKTDQK--GHLSGLQKVHWGLR---------------PDQ------PQQELTGPGSGASSQDSSMDLISRTRSPAAEQLQDILGEE--------DEAPN--------------------------------------------------------------------------------------------------------------------------------------------------------------------PTLFTEMDTLQH--DGDQMEWKESA------------------------RWIKFEEKVEEGGERWSKPHVSTLSLHSLFELRTCLQTGTVLLDLDSGSLPQIIDDVIEKQIEDGLLRPELRERVSYVLLRRHRHQTKK------PIHRSLADIGKSVSTTNRSPARS----------------------------------------------------------PG--AGPSLHHST--------------------------------EDL-------RMRQSANY----GRLCHAQSRSMN------------------------DISL----------------------TPNTDQ------RKNKFMKKIPKDSEASNV----------LVGEVDFLDQPFIAFVRLIQSAMLGGVTEVPVPTRFLFILLGP--SGRAKSYNEIGRAIATLMVDDLFSDVAYKARNREDLIAGIDEFLDEVIVLPPGEWDPNIRIEPPKKVPSADKRKSVFSLAELGQMNGSVGGGGGAPG----------GGNGGGGGGGSGGGAGSGGAGGTSSGDDGEMPAMHEIGEELIWTGRFFGGLCLDIKRKLPWFPSDFYDGF------HIQSISAILFIYLGCITNAITFGGLLGDATDNYQGVMESFLGTAMAGSLFCLFSGQPLIILSSTGPILIFEKLLFDFSKGNGLDYMEFRLWIGLHSAVQCLILVATDASFIIKYITRFTEEGFSTLISFIFIYDAIKKMIGAFKYYPINMDFKPNFITTYKCECVAP-DTVNTTVFNASAPLAPD--TNASLYNLLNLTALDWSLL-SKKECLS--------YGGRLLGNSCK----FIPDLALMSFILFFGTYSMTLTLKKFKFSRYFPTKVRALVADFSIVFSILMFCGIDACF-GLETPKLHVPSVIKPTRPD-RGWFVAPFGKN-----PWWVYPASILPALLVTILIFMDQQITAVIVNRKENKLKKAAGYHLDLFWVGILMALCSFMGLPWYVAATVISIAHIDSLKMETETSAPGE-QPQFLGVREQRVTGIIVFILTGISVFLAPI-LKCIPLPVLYGVFLYMGVASLNGIQMGTGGSEFKIQKKLTPFWERCKLFLMPAKHQPDHAFLRHVPLRRIHLFTLVQILCLAVLWILKSTV---AAIIFPVMILGLIIVRR-LLDFIFSQHDLAWIDNILPEKE--KKETDKKRKRKKGA------HEDCDEEPQFPPPS--VIKIPMESVQ-------SDPQNGIHCI--------------------ARKRSSSWSYSL---
SLC4A7    ME-RFRLEKK------LP--------------GPDEEAVVD-LGKTSSTVNTK-----------------FEKEELESHRAVYIGVHVPF-SK-----ESRRRHRHRGHKHHHRR---------------------------------RKDKESDKEDGRES------PSYDTPSQRVQFILGTED------DDEEHI-------------------------------------------------------------------------------------------------------------------------------------------------------------------PHDLFTEMDELCYR-DGEEYEWKETA------------------------RWLKFEEDVEDGGDRWSKPYVATLSLHSLFELRSCILNGTVMLDMRASTLDEIADMVLDNMIASGQLDESIRENVREALLKRHHHQNEKRFTSRIPLVRSFADIGKKHSDPHLLERNGEGLSASRHSLRTGLSASNLSLRGESPLSLLLGHLLPSSRAGTPAGSRCTTPVPTPQNSPP--SSPSISRLTSRSSQESQRQAPELLVSPASDDIPTVVIHPPEEDLEAALKGEEQKNEENVDLTPGILASPQSAPGN-LDNSKSGEIKGNGSGGSRENSTVDFSK----------------------------------VDMNFMRKIPTGAEASNV----------LVGEVDFLERPIIAFVRLAPAVLLTGLTEVPVPTRFLFLLLGP--AGKAPQYHEIGRSIATLMTDEIFHDVAYKAKDRNDLLSGIDEFLDQVTVLPPGEWDPSIRIEPPKSVPSQEKRKI------PVFHNGSTPTLGETPKE--------AAHHAG---------------------------------PELQRTGRLFGGLILDIKRKAPFFLSDFKDAL------SLQCLASILFLYCACMSPVITFGGLLGEATEGRISAIESLFGASLTGIAYSLFAGQPLTILGSTGPVLVFEKILYKFCRDYQLSYLSLRTSIGLWTSFLCIVLVATDASSLVCYITRFTEEAFAALICIIFIYEALEKLFDLGETYAFNMHNNLDKLTSYSCVCTEPPNPSNETLAQWKK-------DNITAHNIS------WRNL-TVSECKK--------LRGVFLGSACGHHGPYIPDVLFWCVILFFTTFFLSSFLKQFKTKRYFPTKVRSTISDFAVFLTIVIMVTIDYLV-GVPSPKLHVPEKFEPTHPE-RGWIISPLGDN-----PWWTLLIAAIPALLCTILIFMDQQITAVIINRKEHKLKKGAGYHLDLLMVGVMLGVCSVMGLPWFVAATVLSISHVNSLKVESECSAPGE-QPKFLGIREQRVTGLMIFILMGLSVFMTSV-LKFIPMPVLYGVFLYMGVSSLKGIQ----------------LFDRIKLFGMPAKHQPDLIYLRYVPLWKVHIFTVIQLTCLVLLWVIKVSA---AAVVFPMMVLALVFVRK-LMDLCFTKRELSWLDDLMPESK-KKKEDDKKKKEKEEA---ERMLQDDDDTVHLPFEGGSLLQIPVKALK----YSPDKPVS-VKISFEDEPRKKYV------------DAETSL-------
SLC4A8    ---MPAAGSN------EPD-------GVLSYQRPDEEAVVD-QGGTSTILNIH-----------------YEKEELEGHRTLYVGVRMPL-GR-----QSHRHHRTHGQKHRRRG---------------------------------RGKGASQGEEGLEA------LAHDTPSQRVQFILGTE-------EDEEHV-------------------------------------------------------------------------------------------------------------------------------------------------------------------PHELFTELDEICMK-EGEDAEWKETA------------------------RWLKFEEDVEDGGERWSKPYVATLSLHSLFELRSCLINGTVLLDMHANSIEEISDLILDQQELSSDLNDSMRVKVREALLKKHHHQNEKKRNNLIPIVRSFAEVGKKQSDPHLMDKH------------------------------------------------------------------------------------------------------------------------------GQTVSPQSVPTTNLEVK---------NGVNCEHSPVDLSK----------------------------------VDLHFMKKIPTGAEASNV----------LVGEVDILDRPIVAFVRLSPAVLLSGLTEVPIPTRFLFILLGP--VGKGQQYHEIGRSMATIMTDEIFHDVAYKAKERDDLLAGIDEFLDQVTVLPPGEWDPSIRIEPPKNVPSQEKRKM------PGVPNGNVCHIEQEPH----------GGHSG---------------------------------PELQRTGRLFGGLVLDIKRKAPWYWSDYRDAL------SLQCLASFLFLYCACMSPVITFGGLLGEATEGRISAIESLFGASMTGIAYSLFAGQALTILGSTGPVLVFEKILFKFCKDYALSYLSLRACIGLWTAFLCIVLVATDASSLVCYITRFTEEAFASLICIIFIYEAIEKLIHLAETYPIHMHSQLDHLSLYYCRCTLPENPNNHTLQYWKD-------HNIVTAEVH------WANL-TVSECQE--------MHGEFMGSACGHHGPYTPDVLFWSCILFFTTFILSSTLKTFKTSRYFPTRVRSMVSDFAVFLTIFTMVIIDFLI-GVPSPKLQVPSVFKPTRDD-RGWIINPIGPN-----PWWTVIAAIIPALLCTILIFMDQQITAVIINRKEHKLKKGCGYHLDLLMVAIMLGVCSIMGLPWFVAATVLSITHVNSLKLESECSAPGE-QPKFLGIREQRVTGLMIFVLMGCSVFMTAI-LKFIPMPVLYGVFLYMGVSSLQGIQ----------------FFDRLKLFGMPAKHQPDFIYLRHVPLRKVHLFTLIQLTCLVLLWVIKASP---AAIVFPMMVLALVFVRK-VMDLCFSKRELSWLDDLMPESK-KKKLDDAKKKAKEEE---EAEKMLEIGGDKFPLESRKLLSSPGKNIS-----CRCDPSE-INIS--DEMPKTTVWKALSMNSGNAKEK-SLFN------
SLC4A9    MEMK----------------------------LPGQEG--------------------------------FEASSAP-----------------------------------------------------------------------RNIPSGELDSNPDPGTG---PSPDGPSDTESKELGVP-------KD------------------------------------------------------------------------------------------------------------------------------------------------------------------------PLLFIQLNELLG--WPQALEWRETGSSSASLLLDMGEMPSITLSTHLHHRWVLFEEKLEVAAGRWSAPHVPTLALPSLQKLRSLLAEGLVLLDCPAQSLLELVEQV--TRVES--LSPELRGQLQALLLQRPQHYNQT---------------------------------------------------------------------------------------TG--TRPCWGST-----------------------------------------------------------HPRKASDN------------------------------------------------EEAPLREQ------CQNPLRQKLPPGAEAGTV----------LAGELGFLAQPLGAFVRLRNPVVLGSLTEVSLPSRFFCLLLGP--CMLGKGYHEMGRAAAVLLSDPQFQWSVRRASNLHDLLAALDAFLEEVTVLPPGRWDPTARIPPPKCLPSQHKRLP----SQQREIRGPA-----VPRLTSAEDRHRHGPHAH--------------------------------SPELQRTGRLFGGLIQDVRRKVPWYPSDFLDAL------HLQCFSAVLYIYLATVTNAITFGGLLGDATDGAQGVLESFLGTAVAGAAFCLMAGQPLTILSSTGPVLVFERLLFSFSRDYSLDYLPFRLWVGIWVATFCLVLVATEASVLVRYFTRFTEEGFCALISLIFIYDAVGKMLNLTHTYPIQKPGS----SAYGCLCQYPGPGGNES--QWIR-TRPKDRDDIVSMDLG---LINASLL-PPPECTR--------QGGHPRGPGCH----TVPDIAFFSLLLFLTSFFFAMALKCVKTSRFFPSVVRKGLSDFSSVLAILLGCGLDAFL-GLATPKLMVPREFKPTLPG-RGWLVSPFGAN-----PWWWSVAAALPALLLSILIFMDQQITAVILNRMEYRLQKGAGFHLDLFCVAVLMLLTSALGLPWYVSATVISLAHMDSLRRESRACAPGE-RPNFLGIREQRLTGLVVFILTGASIFLAPV-LKFIPMPVLYGIFLYMGVAALSSIQ----------------FTNRVKLLLMPAKHQPDLLLLRHVPLTRVHLFTAIQLACLGLLWIIKSTP---AAIIFPLMLLGLVGVRK-ALERVFSPQELLWLDELMPEEE---------------------------------------RSIPEKGLEPEHSFSGSDSED-------SELM--------------YQPKAPEINISVN--

Variant

check	gene name	residue number	Reference Amino Acid / Variant Amino Acid	minor allele frequency	rs number
--	SLC4A1	31	M/T	0.000245502	rs55773290
--	SLC4A1	38	D/A	0.0338734	rs5035
--	SLC4A1	40	E/K	0.0104932	rs45562031
	SLC4A1	58	Y/C	0.000160852	rs368863744
	SLC4A1	68	E/K	0.000111752	rs13306787
	SLC4A1	72	E/D	0.00582405	rs13306788
	SLC4A1	96	R/C	0.000290476	rs538778224
	SLC4A1	130	G/R	0.000135291	rs121912749
	SLC4A1	153	L/M	0.000660217	rs145041032
	SLC4A1	180	R/H	0.00342011	rs147390654
	SLC4A1	234	A/T	0.000113334	rs780256979
	SLC4A1	236	F/V	0.000112978	rs141605301
	SLC4A1	238	E/V	0.00152421	rs571740084
	SLC4A1	245	V/M	0.000424962	rs148170067
	SLC4A1	295	R/H	0.000472086	rs140424071
	SLC4A1	327	P/R	0.000234807	rs28931583
	SLC4A1	384	R/H	0.000266658	rs13306776
	SLC4A1	394	L/P	0.000155109	rs768426818
	SLC4A1	420	A/T	0.000262607	rs142905862
	SLC4A1	508	E/K	0.000326145	rs45568837
	SLC4A1	587	M/L	0.000170993	rs201228206
	SLC4A1	658	E/K	0.000198948	rs75731670
	SLC4A1	854	P/L	0.0083048	rs2285644
	SLC4A1	862	V/I	0.0072517	rs5026
	SLC4A1	868	P/L	0.000857729	rs121912759
--	SLC4A1	901	R/W	0.000242834	rs201265160
--	SLC4A1	906	E/Q	0.00127791	rs199694087

Phylogenetic tree

Pathway

Priority	Gene Name	Reactome (Gene)	Reactome (Pathway)
main	SLC4A1	SLC4A1 [plasma membrane]	Bicarbonate transporters
	SLC4A1	SLC4A1 [plasma membrane]	Erythrocytes take up carbon dioxide and release oxygen
	SLC4A1	SLC4A1 [plasma membrane]	Erythrocytes take up oxygen and release carbon dioxide

Disease

Gene Name	Reactome (Gene)	Reactome (Pathway)
SLC4A1	SLC4A1 V850del [plasma membrane]	Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA)
SLC4A1	SLC4A1 R589H [plasma membrane]	Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA)
SLC4A1	SLC4A1 G701D [plasma membrane]	Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA)
SLC4A1	SLC4A1 R589C [plasma membrane]	Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA)
SLC4A1	SLC4A1 V488M [plasma membrane]	Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA)
SLC4A1	SLC4A1 S613F [plasma membrane]	Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA)
SLC4A1	SLC4A1 E90K [plasma membrane]	Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA)