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Detail Data SLC8B1
Basic description
Gene Name | SLC8B1 |
---|---|
Protein Name | Mitochondrial sodium/calcium exchanger protein (Na(+)/K(+)/Ca(2+)-exchange protein 6) (Sodium/calcium exchanger protein, mitochondrial) (Sodium/potassium/calcium exchanger 6) (Solute carrier family 24 member 6) (Solute carrier family 8 member B1) |
Family | SLC8 |
Category | Transport of inorganic cations/anions and amino acids/oligopeptides |
Reaction name |
SLC8B1 (NCLX) exchanges sodium (mitochondrial intermembrane space) for calcium (mitochondrial matrix) |
Reaction |
3 Na+ [mitochondrial intermembrane space] + 1 Ca2+ [mitochondrial matrix] --> 1 Ca2+ [mitochondrial intermembrane space] + 3 Na+ [mitochondrial matrix] |
[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 MAGRRLNLRW ALSVLCVLLM AETVSGTRGS STGAHISPQF PASGVNQTPV VDCRKVCGLN VSDRCDFIRT NPDCHSDGGY LDYLEGIFCH FPPSLLPLAV TLYVSWLLYL FLILGVTAAK FFCPNLSAIS TTLKLSHNVA GVTFLAFGNG APDIFSALVA FSDPHTAGLA LGALFGAGVL VTTVVAGGIT ILHPFMAASR PFFRDIVFYM VAVFLTFLML FRGRVTLAWA LGYLGLYVFY VVTVILCTWI YQRQRRGSLF CPMPVTPEIL SDSEEDRVSS NTNSYDYGDE YRPLFFYQET TAQILVRALN PLDYMKWRRK SAYWKALKVF KLPVEFLLLL TVPVVDPDKD DQNWKRPLNC LHLVISPLVV VLTLQSGTYG VYEIGGLVPV WVVVVIAGTA LASVTFFATS DSQPPRLHWL FAFLGFLTSA LWINAAATEV VNILRSLGVV FRLSNTVLGL TLLAWGNSIG DAFSDFTLAR QGYPRMAFSA CFGGIIFNIL VGVGLGCLLQ ISRSHTEVKL EPDGLLVWVL AGALGLSLVF SLVSVPLQCF QLSRVYGFCL LLFYLNFLVV ALLTEFGVIH LKSM CCCCCCCHHH HHHHHHHHHH HHHHHCCCCC CCCCCCCCCC CCCCCCCCCC CCCHHHCCCC HHHCCHHHHH CCCCCCCCCC CCHHHHHHCC CCCCHHHHHH HHHHHHHHHH HHHHHHHHHH CCHHHHHHHH HHCCCCHHHH HHHHHHHHCC CCHHHHHHHH HCCCCCHHHH HHHHHHHHHH HHHHHHHHHH HHCHHCCCCH HHHHHHHHHH HHHHHHHHHH HCCCCHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCH HHHHHHHHCC CCHHHHHHHH HHHHHHHHHC CCCHHHHHHC CCCCCCCCCC CCCCCCCCCC HHHHCCHHHH HHHCCCCCCC CCCCCCCCCH HHHHHHHHHH HHHHHHHCCC CCCCCHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH CCCCHHHHHH HHHHHHHCHH HHHHHHHHHH CCCCHHHHHH HHHHHHHHHH HHHHHHHHHH HHCCCCCCCC CCCCHHHHHH HHHHHHHHHH HHHHHHCCCC CCCHHHHHHH HHHHHHHHHH HHHHHCCCCC CCCC
[Overview]
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 |
---|---|---|---|---|---|
-- | SLC8B1 | 3 | G/S | 0.000167492 | rs143332433 |
-- | SLC8B1 | 9 | V/M | 0.00014637 | rs554490304 |
-- | SLC8B1 | 54 | R/H | 0.000107704 | rs567764947 |
-- | SLC8B1 | 56 | V/L | 0.00013155 | rs546565755 |
-- | SLC8B1 | 71 | N/K | 0.000111426 | rs774251856 |
-- | SLC8B1 | 168 | G/S | 0.000107588 | rs577130341 |
-- | SLC8B1 | 222 | R/C | 0.0561488 | rs16942745 |
-- | SLC8B1 | 222 | R/H | 0.000111401 | rs200728763 |
-- | SLC8B1 | 246 | L/V | 0.00148734 | rs115521155 |
-- | SLC8B1 | 278 | V/L | 0.000116108 | rs200612695 |
-- | SLC8B1 | 293 | P/L | 0.000282425 | rs150909186 |
-- | SLC8B1 | 294 | L/V | 0.000258538 | rs189446912 |
-- | SLC8B1 | 346 | D/H | 0.000143641 | rs761721258 |
-- | SLC8B1 | 358 | L/F | 0.00468603 | rs3764034 |
-- | SLC8B1 | 393 | V/M | 0.00010747 | rs368819577 |
-- | SLC8B1 | 404 | V/A | 0.000135316 | rs778329829 |
-- | SLC8B1 | 437 | A/T | 0.000120211 | rs750401003 |
-- | SLC8B1 | 460 | L/F | 0.000367242 | rs146994195 |
-- | SLC8B1 | 474 | S/L | 0.000139491 | rs141329750 |
-- | SLC8B1 | 480 | R/C | 0.00011554 | rs538747610 |
-- | SLC8B1 | 529 | V/I | 0.000394602 | rs150843854 |
Phylogenetic tree
Pathway
Priority | Gene Name | Reactome (Gene) | Reactome (Pathway) |
---|---|---|---|
main | SLC8B1 | SLC24A6 [plasma membrane] | Sodium/Calcium exchangers |
SLC8B1 | SLC8B1 [mitochondrial inner membrane] | Mitochondrial calcium ion transport |
Disease
Gene Name | Reactome (Gene) | Reactome (Pathway) |
---|---|---|
No data |