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Detail Data SLC24A5


Basic description
Gene Name SLC24A5
Protein Name Sodium/potassium/calcium exchanger 5 (Na(+)/K(+)/Ca(2+)-exchange protein 5) (Solute carrier family 24 member 5)
Family SLC24
Category Transport of inorganic cations/anions and amino acids/oligopeptides
Reaction name SLC24A5 exchanges cytosolic 4Na+ for Golgi luminal Ca2+, K+
Reaction 1 K+ [Golgi lumen] + 4 Na+ [cytosol] + 1 Ca2+ [Golgi lumen] --> 1 K+ [cytosol] + 1 Ca2+ [cytosol] + 4 Na+ [Golgi lumen]

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 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 
MQTKGGQTWA RRALLLGILW ATAHLPLSGT SLPQRLPRAT GNSTQCVISP SSEFPEGFFT RQERRDGGII IYFLIIVYMF MAISIVCDEY FLPSLEIISE SLGLSQDVAG TTFMAAGSSA PELVTAFLGV FITKGDIGIS TILGSAIYNL LGICAACGLL SNTVSTLSCW PLFRDCAAYT ISAAAVLGII YDNQVYWYEG ALLLLIYGLY VLVLCFDIKI NQYIIKKCSP CCACLAKAME RSEQQPLMGW EDEGQPFIRR QSRTDSGIFY EDSGYSQLSI SLHGLSQVSE DPPSVFNMPE ADLKRIFWVL SLPIITLLFL TTPDCRKKFW KNYFVITFFM SAIWISAFTY ILVWMVTITG ETLEIPDTVM GLTLLAAGTS IPDTIASVLV ARKGKGDMAM SNIVGSNVFD MLCLGIPWFI KTAFINGSAP AEVNSRGLTY ITISLNISII FLFLAVHFNG WKLDRKLGIV CLLSYLGLAT LSVLYELGII GNNKIRGCGG  
CCCCCCCCCC CHHEEEEEHE EECCCCCCCC CCCCCCCCCC CCCCCCCCCC HHHCCCCCCC HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH CCCHHHHHHH HHCCCHHHHH HHHHHHHHCC HHHHHHHHHH HCCCCHHHHH HHHHHHHHHH HHHHHHHHHH CCCCCCCCCC CHHHHHHHHH HHHHHHHHHH HCCCHHHHCH HHHHHHHHHH HHHHHHHHHH HHHHHCCCCC CCCHHHHHCH HCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCH HHHHHHHHHH HHHHHHHHHC CCCCCCCCCH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH CCCCCCHHHH HHHHHHHHCC HHHHHHHHHH HHHCCCCHHH HHHCCHHHHH HHHHCHHHHH HHHHHCCCCC CCCCCHHHHH HHHHHHHHHH HHHHHHHHCC CCCCHHHHHH HHHHHHHHHH HHHHHHHCCC CCCCCCCCCC
[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
-- SLC24A5 4 K/E 0.000163843 rs550245060
-- SLC24A5 10 A/P 0.000147647 rs199764262
-- SLC24A5 19 L/M 0.000103744 rs373895181
-- SLC24A5 111 T/A 0.229958 rs1426654
-- SLC24A5 116 A/G 0.000266673 rs150379789
-- SLC24A5 259 R/C 0.000195311 rs140666229
-- SLC24A5 277 Q/E 0.000223587 rs147513140
-- SLC24A5 308 W/G 0.000374896 rs192454382
-- SLC24A5 311 S/Y 0.000283087 rs184818838
-- SLC24A5 342 A/V 0.000175616 rs199924625
-- SLC24A5 366 P/T 0.000254889 rs147788058
-- SLC24A5 481 L/S 0.000269072 rs146726548

Phylogenetic tree

Pathway
Priority Gene Name Reactome (Gene) Reactome (Pathway)
main SLC24A5 SLC24A5 [trans-Golgi network membrane] Sodium/Calcium exchangers

Disease
Gene Name Reactome (Gene) Reactome (Pathway)
SLC24A5 SLC24A5 L454Ffs*33 [trans-Golgi network membrane] Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6)
SLC24A5 SLC24A5 W591* [trans-Golgi network membrane] Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6)