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Variant
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Detail Data SLC44A4


Basic description
Gene Name SLC44A4
Protein Name Choline transporter-like protein 4 (Solute carrier family 44 member 4) (Thiamine pyrophosphate transporter 1) (hTPPT1)
Family SLC44
Category Transport of bile salts and organic acids, metal ions and amine compounds
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 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 
MGGKQRDEDD EAYGKPVKYD PSFRGPIKNR SCTDVICCVL FLLFILGYIV VGIVAWLYGD PRQVLYPRNS TGAYCGMGEN KDKPYLLYFN IFSCILSSNI ISVAENGLQC PTPQVCVSSC PEDPWTVGKN EFSQTVGEVF YTKNRNFCLP GVPWNMTVIT SLQQELCPSF LLPSAPALGR CFPWTNVTPP ALPGITNDTT IQQGISGLID SLNARDISVK IFEDFAQSWY WILVALGVAL VLSLLFILLL RLVAGPLVLV LILGVLGVLA YGIYYCWEEY RVLRDKGASI SQLGFTTNLS AYQSVQETWL AALIVLAVLE AILLLMLIFL RQRIRIAIAL LKEASKAVGQ MMSTMFYPLV TFVLLLICIA YWAMTALYLA TSGQPQYVLW ASNISSPGCE KVPINTSCNP TAHLVNSSCP GLMCVFQGYS SKGLIQRSVF NLQIYGVLGL FWTLNWVLAL GQCVLAGAFA SFYWAFHKPQ DIPTFPLISA FIRTLRYHTG SLAFGALILT LVQIARVILE YIDHKLRGVQ NPVARCIMCC FKCCLWCLEK FIKFLNRNAY IMIAIYGKNF CVSAKNAFML LMRNIVRVVV LDKVTDLLLF FGKLLVVGGV GVLSFFFFSG RIPGLGKDFK SPHLNYYWLP IMTSILGAYV IASGFFSVFG MCVDTLFLCF LEDLERNNGS LDRPYYMSKS LLKILGKKNE APPDNKKRKK  
CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCHHHHHHH HHHHHHHHHH HHHHHHHHCC HHHEECEECC CCCCCCCCCC CCCCCEECCC CCCCCCCCCC EEHHHCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCEE ECCCCCCCCC CCCCCCCHHH HHHCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHCCHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHCCCCCE EECCCCCCHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHCCCCHH HHHHHHHHHH HHHHHHHHHH HCCCCCHHCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCHHHCCCC CCCHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHCCCCC CCCCCHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHCCCCC CCHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHCCCH HHHHHHHHHH HHHCCCCHHC HHHHHHHHHH HHHHHHHHHH HHHHHHHHHC CCCCCCCCCC CCCCCCCHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHCHHHCCCC CCCCCCCCHH HHHHHHHHCC CCCCHHHCCC
[Overview] SLC44A1 SLC44A2 SLC44A3 SLC44A4 SLC44A5 
SLC44A1   MGC----CSS---ASSAAQSSKREWK---PLEDRSCTDIPWLLLFILFCIGMGFICGFSIATGAAARLVSGYDSYGNICGQKNTKLEAIPNSGMDHTQRKYVFFLD--PCNLDLI-------NRKIKSVALCVAACPRQELKTLSDVQKFAEINGSA-------LCSYNLKPSEYTTSPKSSVLCPKLPVPASAPIPFFHRCAPVNISCYAKFAEALITFVSDNSV---------LHRLISG------VMTSKE---------------IILGLCLLSLVLSMILMVIIRYISRVLVWILTILVILGSLGGTGVLWWLYAKQRRSPKE------TVTPEQLQIAEDNLRALLIYAISATVFTVILFLIMLVMRKRVALTIALFHVAGKVFIHLPLLVFQPFWTFFALVLFWVYWIMTLLFLGTTGSPVQNEQGFVEFKIS-----GP--------------------------------------------LQYMWWYHVVGLIWISEFILACQQMTVAGAVVTYYFTRDK-RNLPFTPILASVNRLIRYHLGTVAKGSFIITLVKIPRMILMYIHSQLKGKEN-ACARCVLKSCICCLWCLEKCLNYLNQNAYTATAINSTNFCTSAKDAFVILVENALRVATINTVGDFMLFLGKVLIVCSTGLAGIMLLN----------YQQDYTVWVLPLIIVCLFAFLVAHCFLSIYEMVVDVLFLCFAIDTKYNDGSPGREFYMDKVLMEFVENSRK---AMKEAGKGGVADSR--ELKPMASGASSA
SLC44A2   MGD-----ERPHYYGKHGTPQKYDPTFKGPIYNRGCTDIICCVFLLLAIVGYVAVGIIAWTHGDPRKVIYPTDSRGEFCGQK----------GTKNENKPYLFYFNIVKCASPLVLLE-----FQCPTPQICVEKCPDRYLTY-------LNARSSRDFEYYKQFCVPGFKNNKGVAEVLQDGDCPAVLIPSK---PLARRCFPA----IHAYKGVL-MVGNETTYEDGHGSRKNITDLVEGAKKANGVLEARQLAMRIFEDYTVSWYWIIIGLVI-AMAMSLLFIILLRFLAGIMVWVMIIMVILVLGYGIFHCYMEYSRLRGEAGSDVSLVDLGFQTDFRVYLHLRQTWLAFMIILSILEVIIILLLIFLRKRILIAIALIKEASRAVGYVMCSLLYPLVTFFLLCLCIAYWASTAVFLSTSNEAV--------YKIFD---DSP---CPFTAKTCNPETFPSSNESRQCPNARCQFAFYGGESGYHRALLGLQIFNAFMFFWLANFVLALGQVTLAGAFASYYWALRKPDDLPAFPLFSAFGRALRYHTGSLAFGALILAIVQIIRVILEYLDQRLKAAEN-KFAKCLMTCLKCCFWCLEKFIKFLNRNAYIMIAIYGTNFCTSARNAFFLLMRNIIRVAVLDKVTDFLFLLGKLLIVGSVGILAFFFFTHRIRIVQD--TAPPLNYYWVPILTVIVGSYLIAHGFFSVYGMCVDTLFLCFLEDLERNDGSAERPYFMSSTLKKLLNKTN------KKAAES--------------------
SLC44A3   MHC----LGAEYLVSAEGAPRQREWR---PQIYRKCTDTAWLFLFFLFWTGLVFIMGYSVVAGAAGRLLFGYDSFGNMCGKKNSPVEGAPLSGQDMTLKKHVFFMN--SCNLEVK-------GTQLNRMALCVSNCPEEQLDSLEEVQFFANTSGSF-------LCVYSLNSFNYTHSPKADSLCPRLPVPPSKSFPLFNRCVPQTPECYSLFASVLI---NDVDT---------LHRILSG------IMSGRD---------------TILGLCILALALSLAMMFTFRFITTLLVHIFISLVILGLLFVCGVLWWLYYDYTND-----------LSIELDTERENMKCVLGFAIVSTGITAVLLVLIFVLRKRIKLTVELFQITNKAISSAPFLLFQPLWTFAILIFFWVLWVAVLLSLGTAGAAQVMEGGQVEYKPL-----SG--------------------------------------------IRYMWSYHLIGLIWTSEFILACQQMTIAGAVVTCYFNRSK-NDPPDHPILSSLSILFFYHQGTVVKGSFLISVVRIPRIIVMYMQNALKEQQHGALSRYLFRCCYCCFWCLDKYLLHLNQNAYTTTAINGTDFCTSAKDAFKILSKNSSHFTSINCFGDFIIFLGKVLVVCFTVFGGLMAFN----------YNRAFQVWAVPLLLVAFFAYLVAHSFLSVFETVLDALFLCFAVDLETNDGSSEKPYFMDQEFLSFVKRSNKLNNARAQQDKHSLRNEEGTELQAIVR-----
SLC44A4   MGG----KQRDEDDEAYGKPVKYDPSFRGPIKNRSCTDVICCVLFLLFILGYIVVGIVAWLYGDPRQVLYPRNSTGAYCGM------------GENKDKPYLLYFNIFSCILSSNIISVAENGLQCPTPQVCVSSCPEDPWTVGK--NEFSQTVGEVFYTKNRNFCLPGVPWNMTVITSLQQELCPSFLLPSA---PALGRCFPW----TNVTPPALPGITNDTTIQQG------ISGLIDS-------LNARDISVKIFEDFAQSWYWILVALGV-ALVLSLLFILLLRLVAGPLVLVLILGVLGVLAYGIYYCWEEYRVLRDKGAS---ISQLGFTTNLSAYQSVQETWLAALIVLAVLEAILLLMLIFLRQRIRIAIALLKEASKAVGQMMSTMFYPLVTFVLLLICIAYWAMTALYLATSGQPQ--------YVLWASNISSPGCEKVPINTSCNPT---AHLVNSSCPGLMCVFQGYSSKGLIQRSVFNLQIYGVLGLFWTLNWVLALGQCVLAGAFASFYWAFHKPQDIPTFPLISAFIRTLRYHTGSLAFGALILTLVQIARVILEYIDHKLRGVQN-PVARCIMCCFKCCLWCLEKFIKFLNRNAYIMIAIYGKNFCVSAKNAFMLLMRNIVRVVVLDKVTDLLLFFGKLLVVGGVGVLSFFFFSGRIPGLGKDFKSPHLNYYWLPIMTSILGAYVIASGFFSVFGMCVDTLFLCFLEDLERNNGSLDRPYYMSKSLLKILGKKNEAPPDNKKRKK---------------------
SLC44A5   MNDTEKPADTPSEEEDFGDPRTYDPDFKGPVANRSCTDVLCCMIFLLCIIGYIVLGLVAWVHGDPRRAAYPTDSQGHFCGQK----------GTPNENKTILFYFNLLRCTSPSVLLN-----LQCPTTQICVSKCPEKFLTYVE--MQLLYTKDKSYWEDYRQFCKTTAKPVKSLTQLLLDDDCPTAIFPSK---PFLQRCFPD----FSTKNGTL-TIGSKMMFQDGNGGTRSVVELGIAANGINKLLDAKSLGLKVFEDYARTWYWILIGLTI-AMVLSWIFLILLRFIAGCLFWVFMIGVIGIIGYGIWHCYQQYTNLQERPSSVLTIYDIGIQTNISMYFELQQTWFTFMIILCIIEVIVILMLIFLRNRIRVAIILLKEGSKAIGYVPSTLVYPALTFILLSICICYWVVTAVFLATSGVPV--------YKVI-----APGGHCIHENQTCDPEIFNTTEIAKACPGALCNFAFYGGKSLYHQYIPTFHVYNLFVFLWLINFVIALGQCALAGAFATYYWAMKKPDDIPRYPLFTAFGRAIRYHTGSLAFGSLIIALIQMFKIVLEYLDHRLKRTQN-TLSKFLQCCLRCCFWCLENAIKFLNRNAYIMIAIYGRNFCRSAKDAFNLLMRNVLKVAVTDEVTYFVLFLGKLLVAGSIGVLAFLFFTQRLPVIAQ--GPASLNYYWVPLLTVIFGSYLIAHGFFSVYAMCVETIFICFCEDLERNDGSTEKPYFVTPNLHGILIKKQLVP---QKQKE---------------------

Variant
check gene name residue number Reference Amino Acid / Variant Amino Acid minor allele frequency rs number
-- SLC44A4 6 R/L 0.107973 rs2075798
-- SLC44A4 26 P/S 0.000179566 rs201797354
-- SLC44A4 123 D/V 0.150123 rs12661281
-- SLC44A4 144 N/S 0.0027096 rs114957103
-- SLC44A4 145 R/S 0.00270914 rs116048674
-- SLC44A4 187 V/I 0.597181 rs2242665
-- SLC44A4 256 P/T 0.00195906 rs34446788
-- SLC44A4 278 E/Q 0.000332714 rs114087269
-- SLC44A4 300 S/T 0.00187084 rs6913689
-- SLC44A4 326 M/V 0.595248 rs644827
-- SLC44A4 326 M/I 0.0002768 rs749133621
-- SLC44A4 386 Q/E 0.00625052 rs117127493
-- SLC44A4 391 A/P 0.00092721 rs146294980
-- SLC44A4 397 P/S 0.0163101 rs116706632
-- SLC44A4 464 V/I 0.000143171 rs149591801
-- SLC44A4 493 R/C 0.00225275 rs6915800
-- SLC44A4 558 N/S 0.000152723 rs559523018
-- SLC44A4 649 Y/C 0.000107443 rs773722853
-- SLC44A4 660 G/S 0.000111601 rs371751994
-- SLC44A4 661 M/T 0.00013149 rs139748832
-- SLC44A4 687 M/V 0.000171562 rs150385253

Phylogenetic tree

Pathway
Priority Gene Name Reactome (Gene) Reactome (Pathway)
main SLC44A4 SLC44A4 [plasma membrane] Transport of bile salts and organic acids, metal ions and amine compounds
SLC44A4 SLC44A4 [plasma membrane] Synthesis of PC

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