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Basic
Network
Structure
Seq./Align.
Variant
Phylogenetic Tree
Pathway
Disease

Detail Data SLC24A1


Basic description
Gene Name SLC24A1
Protein Name Sodium/potassium/calcium exchanger 1 (Na(+)/K(+)/Ca(2+)-exchange protein 1) (Retinal rod Na-Ca+K exchanger) (Solute carrier family 24 member 1)
Family SLC24
Category Transport of inorganic cations/anions and amino acids/oligopeptides
Reaction name SLC24A1 exchanges 4Na+ for Ca2+, K+
Defective SLC24A1 does not exchange extracellular 4Na+ for cytosolic Ca2+, K+
Reaction 1 K+ [cytosol] + 1 Ca2+ [cytosol] + 4 Na+ [extracellular region] --> 1 K+ [extracellular region] + 4 Na+ [cytosol] + 1 Ca2+ [extracellular region]
1 K+ [cytosol] + 1 Ca2+ [cytosol] + 4 Na+ [extracellular region] -->

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 4 9 0 5 0 0 5 1 0 5 2 0 5 3 0 5 4 0 5 5 0 5 6 0 5 7 0 5 8 0 5 9 0 6 0 0 6 1 0 6 2 0 6 3 0 6 4 0 6 5 0 6 6 0 6 7 0 6 8 0 6 9 0 7 0 0 7 1 0 7 2 0 7 3 0 7 4 0 7 5 0 7 6 0 7 7 0 7 8 0 7 9 0 8 0 0 8 1 0 8 2 0 8 3 0 8 4 0 8 5 0 8 6 0 8 7 0 8 8 0 8 9 0 9 0 0 9 1 0 9 2 0 9 3 0 9 4 0 9 5 0 9 6 0 9 7 0 9 8 0 9 9 0 1 0 0 0 1 0 1 0 1 0 2 0 1 0 3 0 1 0 4 0 1 0 5 0 1 0 6 0 1 0 7 0 1 0 8 0 1 0 9 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        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 
MGKLIRMGPQ ERWLLRTKRL HWSRLLFLLG MLIIGSTYQH LRRPRGLSSL WAAVSSHQPI KLASRDLSSE EMMMMSSSPS KPSSEMGGKM LVPQASVGSD EATLSMTVEN IPSMPKRTAK MIPTTTKNNY SPTAAGTERR KEDTPTSSRT LTYYTSTSSR QIVKKYTPTP RGEMKSYSPT QVREKVKYTP SPRGRRVGTY VPSTFMTMET SHAITPRTTV KDSDITATYK ILETNSLKRI MEETTPTTLK GMFDSTPTFL THEVEANVLT SPRSVMEKNN LFPPRRVESN SSAHPWGLVG KSNPKTPQGT VLLHTPATSE GQVTISTMTG SSPAETKAFT AAWSLRNPSP RTSVSAIKTA PAIVWRLAKK PSTAPSTSTT PTVRAKLTMQ VHHCVVVKPT PAMLTTPSPS LTTALLPEEL SPSPSVLPPS LPDLHPKGEY PPDLFSVEER RQGWVVLHVF GMMYVFVALA IVCDEYFVPA LGVITDKLQI SEDVAGATFM AAGGSAPELF TSLIGVFISH SNVGIGTIVG SAVFNILFVI GTCSLFSREI LNLTWWPLFR DVSFYILDLI MLILFFLDSL IAWWESLLLL LAYAFYVFTM KWNKHIEVWV KEQLSRRPVA KVMALEDLSK PGDGAIAVDE LQDNKKLKLP SLLTRGSSST SLHNSTIRST IYQLMLHSLD PLREVRLAKE KEEESLNQGA RAQPQAKAES KPEEEEPAKL PAVTVTPAPV PDIKGDQKEN PGGQEDVAEA ESTGEMPGEE GETAGEGETE EKSGGETQPE GEGETETQGK GEECEDENEA EGKGDNEGED EGEIHAEDGE MKGNEGETES QELSAENHGE AKNDEKGVED GGGSDGGDSE EEEEEEEEQE EEEEEEEQEE EEEEEEEEEE KGNEEPLSLD WPETRQKQAI YLFLLPIVFP LWLTVPDVRR QESRKFFVFT FLGSIMWIAM FSYLMVWWAH QVGETIGISE EIMGLTILAA GTSIPDLITS VIVARKGLGD MAVSSSVGSN IFDITVGLPV PWLLFSLING LQPVPVSSNG LFCAIVLLFL MLLFVISSIA SCKWRMNKIL GFTMFLLYFV FLIISVMLED RIISCPVSV 
CCCCCCCCHH HHHCHHHCHH HHHHHHHHHH HHHHHHHHHH CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCEECCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCHHHCCC CCCCCCCCCC CCCCCCCCCC EEEEEEECCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHCCHHH HHHHHHHHCC CHHHHHHHHH HHHCCHHHHH HHHHHHHCCC CCHHHHHHHH HHHHHHHHHH HHHHHHCCCH HHCCCCCHHH HHHHHHHHHH HHHHHHHCCC CCHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHCCCCCC EEEECCCCCC CCCCCCCCCC CCCCCCCCCC CHHCCCCCCC CCCCCCCCCC HHHHHHCCCC CCCCHHCCHH HHHHHHHHCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCHHHC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCEECCCCC CCCCCCCCHH HHCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCHHHCCC HHHHCCCCCC CCCCCCCCCC CCHHHHHHHH HHHHHHHHHH HHHHCCCCCC CCHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHCCCCH HHHHHHHHHH CCCHHHHHHH HHHHHCCCCH HHHHCCCCHH HHHHHHCCCH HHHHHHHHCC CCCCCCCCHH HHHHHHHHHH HHHHHHHHHH CCCCCCCHHH HHHHHHHHHH HHHHHHHHHC CCCCCCCCC
[Overview] SLC24A1 SLC24A2 SLC24A3 SLC24A4 SLC24A5 
SLC24A1   --MGKLIRMGPQERWLLRTK----RLHWS-----RLLFLLGMLIIGSTYQHLRRPRGLSSLWAAVSSHQPIKLASRDLSSEEMMMMSSSPSKPSSEMGGKMLVPQASVGSDEATLSMTVENIPSMPKRTAKMIPTTTKNNYSPTAAGTERRKEDTPTSSRTLTYYTSTSSRQIVKKYTPTPRGEMKSYSPTQVREKVKYTPSPRGRRVGTYVPSTFMTMETSHAITPRTTVK-DSDITATYKILETNSLKRIMEETTPTTLKGMFDSTPTFLTHEVEANVLTSPRSVMEKNNLFPPRRVESNSSAHPWGLVGKSNPKTPQGTVLLHTPATSEGQVTISTMTGSSPAETKAFTAAWSLRNPSPRTSVSAIKTAPAIVWRLAKKPSTAPSTSTTPTVRAKLTMQVHHCVVVKPTPAMLTTPSPSLTTALLPEELSPSPSVLPPSLPDLHPKGEYPPDLFSVEERRQGWVVLHVFGMMYVFVALAIVCDEYFVPALGVITDKLQISEDVAGATFMAAGGSAPELFTSLIGVFISHSNVGIGTIVGSAVFNILFVIGTCSLFSREILNLTWWPLFRDVSFYILDLIMLILFFLDSLIAWWESLLLLLAYAFYVFTMKWNKHIEVWVKEQLS--------------------------RRPVAKVMALEDLSKPGDG---AIAVDELQDNKKLKLPS--LLTRGSSSTSLHNSTIRSTIYQLMLHSLDPLREV--RLAKEKEEESLNQGARAQPQAKAESKPEEEEPAKLPAVTVTPAPVPDIKGDQKENPGGQEDVAEAESTGEMPGEEGETAGEGETEEKSGGETQPEGEGETETQGKGEECE-DENEAEGKGDNEGEDEGEIHAEDGEMKGNEGETESQELSAENHGEAKNDEKGVEDGGGS------------------DGGDSEEEEEEEEEQEEEEEEEEQEEEEEEEEEEEEKGNEEPLSLDWPETRQKQAIYLFLLPIVFPLWLTVPDVRRQESRKFFVFTFLGSIMWIAMFSYLMVWWAHQVGETIGISEEIMGLTILAAGTSIPDLITSVIVARKGLGDMAVSSSVGSNIFDITVGLPVPWLLFSL-INGLQPVPVSSNGLFCAIVLLFLMLLFVISSIASCKWRMNKILGFTMFLLYFVFLIISVMLEDRIIS------CPVSV
SLC24A2   MDLQQSTTITSLEKWCLDESLSGCRRHYSVKKKLKLIRVLGLFM------------GLVAI---------------------------------------------------STVSFSI--------------------------------------SAFSETDTQSTGEASVVS-----------------------------GPRV-------------AQGYHQRTLLD-LND-----KIL---------------------DYTPQ------------------------PP----------------------------------------------------------------------------------LSKEGESENSTD--------------------------------------------------------HAQGDYPKDIFSLEERRKGAIILHVIGMIYMFIALAIVCDEFFVPSLTVITEKLGISDDVAGATFMAAGGSAPELFTSLIGVFIAHSNVGIGTIVGSAVFNILFVIGMCALFSREILNLTWWPLFRDVSFYIVDLIMLIIFFLDNVIMWWESLLLLTAYFCYVVFMKFNVQVEKWVKQMIN--------------------------RNKVVKVTAPEAQAKP----------SAARDKDEPTLPAKPRLQRGGSSASLHNSLMRNSIFQLMIHTLDPLAEELGSYGKLKYYDTMTEEGRFREKASILHK-----------------------------------IAK------------------------------------------KKCHVDENERQNGAAN--------HVEKIELP-NSTSTDVEMTPSSDASEP------VQNGNLSHN---------------IEGAEAQTADEEE---------------------------DQPLSLAWPSETRKQVTFLIVFPIVFPLWITLPDVRKPSSRKFFPITFFGSITWIAVFSYLMVWWAHQVGETIGISEEIMGLTILAAGTSIPDLITSVIVARKGLGDMAVSSSVGSNIFDITVGLPLPWLLYTV-IHRFQPVAVSSNGLFCAIVLLFIMLLFVILSIALCKWRMNKILGFIMFGLYFVFLVVSVLLEDRILT------CPVSI
SLC24A3   ------MRPSGDEDRARR------RRRRR-RRRDLLLSQLCFLA--------------------------------------------------------------------SVALLLW--------------------------------------SLSSL---REQKELDLMD-------------------------------LV----------GEDRKWMMARKLMQ-VND------------------------------------------------------------------------------------------------------TLT--------------------------------------SEDAGLRNSKN---------------CTE--------------------------------------PALHEFPNDIFTNEDRRQGAVVLHVLCAIYMFYALAIVCDDFFVPSLEKICERLHLSEDVAGATFMAAGSSAPELFTSVIGVFITKGDVGVGTIVGSAVFNILCIIGVCGLFAGQVVALSSWCLLRDSIYYTLSVIALIVFIYDEKVSWWESLVLVLMYLIYIVIMKYNACIHQCFERRTKGAGNMVNGLANNAEID------DSSNCDATVVLL----KKANFHRKASVIMVDE-------------LLSAYPHQLSFSEAGLR----IMITSHFPP-----------------------KTRLSMASR-----------MLI-------------------------------------------------------------------------NERQRLINSRAY--------------TNGESEVAIKIPIKHT--------VENGTGPSSAPDRGVNGTRRDDVVAEAGNETENENEDNENDEEEE----------EDEDDDEGPYTPFDT--PSGKLETVKWAFTWPLSFVLYFTVPNCNKPRWEKWFMVTFASSTLWIAAFSYMMVWMVTIIGYTLGIPDVIMGITFLAAGTSVPDCMASLIVARQGMGDMAVSNSIGSNVFDILIGLGLPWALQTLAVDYGSYIRLNSRGLIYSVGLLLASVFVTVFGVHLNKWQLDKKLGCGCLLLYGVFLCFSIMTEFNVFTFVNLPMCGDH-
SLC24A4   MALRGTLRP----------------LKVR-RRREMLPQQVGFVC--------------------------------------------------------------------AVLALVC--------------------------------------CASGLFGSLGHKTASASK-------------------------------RV----------LPD-TW-RNRKLMAPVNG------------------------------------------------------------------------------------------------------TQT----------------------------------------------AKN---------------CTD--------------------------------------PAIHEFPTDLFSNKERQHGAVLLHILGALYMFYALAIVCDDFFVPSLEKICERLHLSEDVAGATFMAAGSSTPELFASVIGVFITHGDVGVGTIVGSAVFNILCIIGVCGLFAGQVVRLTWWAVCRDSVYYTISVIVLIVFIYDEQIVWWEGLVLIILYVFYILIMKYNVKMQAFFTVKQK---SIANGNPVNSELEAGNDFYDGSYDDPSVPLLG-QVKEKPQYGKNPVVMVDE-------------IMSSSPPKFTFPEAGLR----IMITNKFGP-----------------------RTRLRMASR-----------III-------------------------------------------------------------------------NERQRLINS-----------------ANGVSSKPLQNGRHEN--------IENGNVPVENP------------------------EDPQQNQEQQPPPQ--PPPPEPEPVEADFLSPFSV--PEARGDKVKWVFTWPLIFLLCVTIPNCSKPRWEKFFMVTFITATLWIAVFSYIMVWLVTIIGYTLGIPDVIMGITFLAAGTSVPDCMASLIVARQGLGDMAVSNTIGSNVFDILVGLGVPWGLQTMVVNYGSTVKINSRGLVYSVVLLLGSVALTVLGIHLNKWRLDRKLGVYVLVLYAIFLCFSIMIEFNVFTFVNLPMCREDD
SLC24A5   ------MQTKGGQTWA---------------RRALL---LGILW--------------------------------------------------------------------ATAHLPL--------------------------------------SGTSL----------------------------------------------------------------PQRLPR-------------------------------------------------------------------------------------------------------------------------------------------------------ATGNSTQ---------------CVI--------------------------------------SPSSEFPEGFFTRQERRDGGIIIYFLIIVYMFMAISIVCDEYFLPSLEIISESLGLSQDVAGTTFMAAGSSAPELVTAFLGVFITKGDIGISTILGSAIYNLLGICAACGLLSNTVSTLSCWPLFRDCAAYTISAAAVLGIIYDNQVYWYEGALLLLIYGLYVLVLCFDIKINQYIIKKCSPCCACLAKAMERSEQQ---------------PLMGWEDEGQPFIRRQ----------------------SRTDSGIFYEDSGY--------------------------------------SQLSIS-------------------------------------------------------------------------------------------------------------------LHGLSQVS---------------------------------------------------ED---------------PP-----------SVFNM--PEADLKRIFWVLSLPIITLLFLTTPDCRKKFWKNYFVITFFMSAIWISAFTYILVWMVTITGETLEIPDTVMGLTLLAAGTSIPDTIASVLVARKGKGDMAMSNIVGSNVFDMLC-LGIPWFIKTAFINGSAPAEVNSRGLTYITISLNISIIFLFLAVHFNGWKLDRKLGIVCLLSYLGLATLSVLYELGIIGNNKIRGCGG--

Variant
check gene name residue number Reference Amino Acid / Variant Amino Acid minor allele frequency rs number
-- SLC24A1 32 L/Q 0.000159933 rs994723391
-- SLC24A1 37 T/S 0.255058 rs3743171
-- SLC24A1 47 P/T 0.0355193 rs12148277
-- SLC24A1 48 G/S 0.000480731 rs549899114
-- SLC24A1 51 N/K 0.0545466 rs62014379
-- SLC24A1 59 P/A 0.000168726 rs533092441
-- SLC24A1 118 T/R 0.000170601 rs201751369
-- SLC24A1 201 V/M 0.000131788 rs200714082
-- SLC24A1 201 V/G 0.000118109 rs559502671
-- SLC24A1 222 D/N 0.000105095 rs201188098
-- SLC24A1 259 F/S 0.000104319 rs370617242
-- SLC24A1 268 V/A 0.000308994 rs202245263
-- SLC24A1 304 P/L 0.000400183 rs200297933
-- SLC24A1 311 V/L 0.00962983 rs34363823
-- SLC24A1 313 L/V 0.0517921 rs35571449
-- SLC24A1 326 S/R 0.000100784 rs184915931
-- SLC24A1 409 P/L 0.000184729 rs202035723
-- SLC24A1 485 T/I 0.000224697 rs200772588
-- SLC24A1 608 V/I 0.00390274 rs35984752
-- SLC24A1 620 A/V 0.000610604 rs35398714
-- SLC24A1 668 R/C 0.000117115 rs200758853
-- SLC24A1 724 T/M 0.00152202 rs191146484
-- SLC24A1 728 A/V 0.000472362 rs201943537
-- SLC24A1 759 E/K 0.000104402 rs375749809
-- SLC24A1 776 E/Q 0.000498311 rs150992293
-- SLC24A1 828 T/N 0.000178036 rs547162567
-- SLC24A1 845 E/K 0.000152736 rs532808985
-- SLC24A1 865 E/G 0.00155604 rs142249570
-- SLC24A1 922 W/R 0.00256171 rs146253044
-- SLC24A1 1020 V/I 0.000409553 rs375878760
-- SLC24A1 1039 N/S 0.000100319 rs369270117

Phylogenetic tree

Pathway
Priority Gene Name Reactome (Gene) Reactome (Pathway)
main SLC24A1 SLC24A1 [plasma membrane] Sodium/Calcium exchangers
SLC24A1 SLC24A1 [plasma membrane] Activation of the phototransduction cascade

Disease
Gene Name Reactome (Gene) Reactome (Pathway)
SLC24A1 SLC24A1 F538Cfs*23 [plasma membrane] Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D)