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Variant
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Disease

Detail Data SLC8A1


Basic description
Gene Name SLC8A1
Protein Name Sodium/calcium exchanger 1 (Na(+)/Ca(2+)-exchange protein 1) (Solute carrier family 8 member 1)
Family SLC8
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 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 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 
MYNMRRLSLS PTFSMGFHLL VTVSLLFSHV DHVIAETEME GEGNETGECT GSYYCKKGVI LPIWEPQDPS FGDKIARATV YFVAMVYMFL GVSIIADRFM SSIEVITSQE KEITIKKPNG ETTKTTVRIW NETVSNLTLM ALGSSAPEIL LSVIEVCGHN FTAGDLGPST IVGSAAFNMF IIIALCVYVV PDGETRKIKH LRVFFVTAAW SIFAYTWLYI ILSVISPGVV EVWEGLLTFF FFPICVVFAW VADRRLLFYK YVYKRYRAGK QRGMIIEHEG DRPSSKTEIE MDGKVVNSHV ENFLDGALVL EVDERDQDDE EARREMARIL KELKQKHPDK EIEQLIELAN YQVLSQQQKS RAFYRIQATR LMTGAGNILK RHAADQARKA VSMHEVNTEV TENDPVSKIF FEQGTYQCLE NCGTVALTII RRGGDLTNTV FVDFRTEDGT ANAGSDYEFT EGTVVFKPGD TQKEIRVGII DDDIFEEDEN FLVHLSNVKV SSEASEDGIL EANHVSTLAC LGSPSTATVT IFDDDHAGIF TFEEPVTHVS ESIGIMEVKV LRTSGARGNV IVPYKTIEGT ARGGGEDFED TCGELEFQND EIVKTISVKV IDDEEYEKNK TFFLEIGEPR LVEMSEKKAL LLNELGGFTI TGKYLFGQPV FRKVHAREHP ILSTVITIAD EYDDKQPLTS KEEEERRIAE MGRPILGEHT KLEVIIEESY EFKSTVDKLI KKTNLALVVG TNSWREQFIE AITVSAGEDD DDDECGEEKL PSCFDYVMHF LTVFWKVLFA FVPPTEYWNG WACFIVSILM IGLLTAFIGD LASHFGCTIG LKDSVTAVVF VALGTSVPDT FASKVAATQD QYADASIGNV TGSNAVNVFL GIGVAWSIAA IYHAANGEQF KVSPGTLAFS VTLFTIFAFI NVGVLLYRRR PEIGGELGGP RTAKLLTSCL FVLLWLLYIF FSSLEAYCHI KGF 
CCCCCCCCCC HHHHHHHHHH HHHHHHHHCH HHHHCCCCCC CCCCCCCCCC CCCCCCCCEE EECCCCCCCC CCHHHHHHHH HHHHHHHHHH HHHHHHHHCC CCHHHHHCCC EEEEEECCCC CEEEEEEEEC CCCCCHHHHH HHHCCCHHHH HHHHHHHCCC CCCCCCCCCC CCCCCCCHHH EEEEEHHHHC CCCCCCCCCC HHHHHHHHHH HHHHHHHHHH HHHCCCCCCE ECCCHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHCCC CCCCEECCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCEEE EECCCCCCCH HHHHHHHHHH HHHHHHCCCC HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHCCCCCHHH HHHHHHCHHH CCHHHCCCCC CCCCCCCEEE EEECCEEEEC CCCEEEEEEE EECCCCCCEE EEEEEEECCC CCCCCCEEEC CCEEEECCCC EEEEEEEEEC CCCCCCCCCC EEEEECCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCEEE ECCCCCCCEE EEECCEEEEE CCEEEEEEEE EECCCCCCCE EEEEEEECCC CCCCCCCCCC CCCEEEEECC CCCCEEEEEE ECCCEECCCC CEEEEECCCH HHHHCCHHEE EEHHHCCCCC CCCCCCCCCE EEEECCCCCC CEEEEEECCC CCCCCCCCCC CCHHHHHHHH CCCCCCCCCC CCCEEEECCC CCCCHHHHHH HHHCCCCCCC CCCCCCCCCC CCEECCCCCC CCCCCCCCCC HHHHHHHHHH HHHHHHHHHC CCCCCHHHCH HHHHHHHHHH HHHHHHHHHH HHHHCCHHCC CCCHHCCCCC CCCCCCCCCC HHHHHHCCCC CCCCCCCCCC HHHHHHHHHH HHCHHHHHHH HHHHCCCCCC CCCHHHHHHH HHHHHHHHHH HHHHHHHHCC HHCCCCCCCC HHHHHHHHHH HHHHHHHHHH HHHHHHCCCC CCC
[Overview] SLC8A1 SLC8A2 SLC8A3 SLC8B1 
SLC8A1    MYNMRRLSLSPTFSMGFHL-LVTVSLLFSHVDHVIAETEMEGEG---------------NETGE------------------CTG------SYYCK------------------KGV-------ILPIWEPQDPSFGDKIARATVYFVAMVYMFLGVSIIADRFMSSIEVITSQEKEITIKKPNGETTKTTVRIWNETVSNLTLMALGSSAPEILLSVIEVCGHNFTAGDLGPSTIVGSAAFNMFIIIALCVYVVPDGETRKIKHLRVFFVTAAWSIFAYTWLYII------LSVISPGVVEVWE-GLLTFFFFPICVVFAWVADRRLLFYKYVYKRYRAGKQRGMIIEHEGDRPSSKTEIEMDGKVVNSHVENFLDGALV--LEVDERDQDDEEARREMARILKELKQKHPDKEIEQLIELANYQVLSQQQKSRAFYRIQATRLMTGAGNILKRHAADQARKAVSMHEVNTEVTENDPVSKIFFEQGTYQCLENCGTVALTIIRRGGDLTNTVFVDFRTEDGTANAGSDYEFTEGTVVFK-PGDTQKEIRVGIIDDDIFEEDENFLVHLSNVKVSSEASEDGILEANHVS---TLACL---GSPSTATVTIFDDDHAGIFTFEEPVTHVSESIGIMEVKVLRTSGARGNVIVPYKTIEGTARGGGEDFEDTCGELEFQNDEIVKTISVKVIDDEEYEKNKTFFLEIGEPRLVEMSEKKALLLNELGGFTITGKYLFGQPVFRKVHAREHPILSTVITIADEYDDKQPLTSKEEEERRIAEMGRPILGEHTKLEVIIEESYEFKSTVDKLIKKTNLALVVGTNSWREQFIEAITVSAG-EDDDDDECGEEKLPSCFDYVMHFLTVFWKVLFAFVPPTEYWNGWACFIVSILMIGLLTAFIGDLASHFGCTIGLKDSVTAVVFVALGTSVPDTFASKVAATQDQYADASIGNVTGSNAVNVFLGIG------VAWSIAAIYHAANGEQFKVSPGTLAFSVTLFTIFAFINVGVLLYRRRPEIGGELGGPRTAKLLTSCLFVLLWLLYIFFSSLEAY--CHIKGF
SLC8A2    --------MAPLA-------LVGVTLLL-------AAPPCSGAATPTPSLPPPPANDSDTSTGG------------------CQG------SYRCQ------------------PGV-------LLPVWEPDDPSLGDKAARAVVYFVAMVYMFLGVSIIADRFMAAIEVITSKEKEITITKANGETSVGTVRIWNETVSNLTLMALGSSAPEILLSVIEVCGHNFQAGELGPGTIVGSAAFNMFVVIAVCIYVIPAGESRKIKHLRVFFVTASWSIFAYVWLYLI------LAVFSPGVVQVWE-ALLTLVFFPVCVVFAWMADKRLLFYKYVYKRYRTDPRSGIIIGAEGDPPKS---IELDGTFVGAEAPGELGGLGPGPAEARELD----ASRREVIQILKDLKQKHPDKDLEQLVGIANYYALLHQQKSRAFYRIQATRLMTGAGNVLRRHAADASRRAAPAEGAGED--EDDGASRIFFEPSLYHCLENCGSVLLSVTCQGGEGNSTFYVDYRTEDGSAKAGSDYEYSEGTLVFK-PGETQKELRIGIIDDDIFEEDEHFFVRLLNLRVGDAQ---GMFEPDGGG--RPKGRL---VAPLLATVTILDDDHAGIFSFQDRLLHVSECMGTVDVRVVRSSGARGTVRLPYRTVDGTARGGGVHYEDACGELEFGDDETMKTLQVKIVDDEEYEKKDNFFIELGQPQWLKRGI-SALLLNQ----------------------------------GD--GDRK-LTAEEEEARRIAEMGKPVLGENCRLEVIIEESYDFKNTVDKLIKKTNLALVIGTHSWREQFLEAITVSAGDEEEEEDGSREERLPSCFDYVMHFLTVFWKVLFACVPPTEYCHGWACFGVSILVIGLLTALIGDLASHFGCTVGLKDSVNAVVFVALGTSIPDTFASKVAALQDQCADASIGNVTGSNAVNVFLGLG------VAWSVAAVYWAVQGRPFEVRTGTLAFSVTLFTVFAFVGIAVLLYRRRPHIGGELGGPRGPKLATTALFLGLWLLYILFASLEAY--CHIRGF
SLC8A3    ---MAWLRLQPLTSAFLHFGLVTFVLFLNGLR---AEAGGSGDV---------------PSTGQN----------NE----SCSG------SSDCK------------------EGV-------ILPIWYPENPSLGDKIARVIVYFVALIYMFLGVSIIADRFMASIEVITSQEREVTIKKPNGETSTTTIRVWNETVSNLTLMALGSSAPEILLSLIEVCGHGFIAGDLGPSTIVGSAAFNMFIIIGICVYVIPDGETRKIKHLRVFFITAAWSIFAYIWLYMI------LAVFSPGVVQVWE-GLLTLFFFPVCVLLAWVADKRLLFYKYMHKKYRTDKHRGIIIETEGDHPKG---IEMDGKMMNSH---FLDGNLV-PLEGKEVD----ESRREMIRILKDLKQKHPEKDLDQLVEMANYYALSHQQKSRAFYRIQATRMMTGAGNILKKHAAEQAKKASSMSEVHTDEPE-DFISKVFFDPCSYQCLENCGAVLLTVVRKGGDMSKTMYVDYKTEDGSANAGADYEFTEGTVVLK-PGETQKEFSVGIIDDDIFEEDEHFFVRLSNVRIEEEQPEEGMPPAIFNSLPLPRAVL---ASPCVATVTILDDDHAGIFTFECDTIHVSESIGVMEVKVLRTSGARGTVIVPFRTVEGTAKGGGEDFEDTYGELEFKNDETVKTIHIKVIDDEAYEKNKNYFIEMMGPRMVDMSFQKALLLS---------------------------------------PDRK-LTMEEEEAKRIAEMGKPVLGEHPKLEVIIEESYEFKTTVDKLIKKTNLALVVGTHSWRDQFMEAITVSAA-GDEDEDESGEERLPSCFDYVMHFLTVFWKVLFACVPPTEYCHGWACFAVSILIIGMLTAIIGDLASHFGCTIGLKDSVTAVVFVAFGTSVPDTFASKAAALQDVYADASIGNVTGSNAVNVFLGIG------LAWSVAAIYWALQGQEFHVSAGTLAFSVTLFTIFAFVCISVLLYRRRPHLGGELGGPRGCKLATTWLFVSLWLLYILFATLEAY--CYIKGF
SLC8B1    ---MAGRRLN------LRWALSVLCVLL-------MAETVSGTR--------------GSSTGAHISPQFPASGVNQTPVVDCRKVCGLNVSDRCDFIRTNPDCHSDGGYLDYLEGIFCHFPPSLLPL-------------AVTLYVSWLLYLFLILGVTAAKFFC----------------PNLSAISTTLKL-SHNVAGVTFLAFGNGAPDIFSALVAFSDPH-TAG-LALGALFGAGVLVTTVVAGGITILHP-------------FMAASRPFFRDIVFYMVAVFLTFLMLFRGRVTLAWALGYLGLYVFYVVTV---------ILCTWIYQRQRR-------------------------------------GSLFCPMPV-------------TPEILSDSEE-------DRVSSNTNSYDYGDEYRPLFFYQETTAQILVRALNPLD------------------------------------------------------------YMKWRRKSA---------YWKALKVFKLPVEFLLLLTVPVVDPD--KDDQNW--------------------------KRPLNCLHLVISPLVV-----------VLTLQSGTYGVYEIGGLVPVWVV-------------VVIAGTA-----------------------------------------------------------------------------------------------------------------------------------------------------------------------LASVTFFAT-SDSQ---------PPRLHWLFAFLGFLTSALWINAAATE-------------VVNILRSL--------GVVFRLSNTVLGLTLLAWGNSIGDAFSDFTLARQG-YPRMAFSACFGGIIFNILVGVGLGCLLQISRSHTEVKLEPDGLLVWVLAGALGLSL----VFSLVSVPLQCFQLSRVYG--------------FCLLLFYLNFLVVALLTEFGVIHLKSM

Variant
check gene name residue number Reference Amino Acid / Variant Amino Acid minor allele frequency rs number
-- SLC8A1 2 Y/F 0.000398492 rs115564742
-- SLC8A1 3 N/S 0.000282576 rs780255113
-- SLC8A1 5 R/W 0.000118228 rs200360506
-- SLC8A1 6 R/Q 0.000121641 rs202097070
-- SLC8A1 8 S/T 0.000108921 rs199547343
-- SLC8A1 22 T/I 0.000251974 rs143231281
-- SLC8A1 95 I/V 0.00010761 rs140571640
-- SLC8A1 274 M/I 0.000163649 rs539655305
-- SLC8A1 368 A/V 0.00051835 rs150456883
SLC8A1 516 S/T 0.000439115 rs139164260
SLC8A1 613 R/H 0.00374816 rs5556
SLC8A1 690 S/G 0.000223186 rs201831093
SLC8A1 692 E/V 0.00140302 rs5557
-- SLC8A1 941 R/Q 0.000572665 rs187703961
-- SLC8A1 949 C/F 0.000123284 rs369797074

Phylogenetic tree

Pathway
Priority Gene Name Reactome (Gene) Reactome (Pathway)
main SLC8A1 SLC8A1 [plasma membrane] Sodium/Calcium exchangers
SLC8A1 SLC8A1 [plasma membrane] Reduction of cytosolic Ca++ levels
SLC8A1 SLC8A1 [plasma membrane] Ion homeostasis

Disease
Gene Name Reactome (Gene) Reactome (Pathway)
No data