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

Detail Data SLC5A7


Basic description
Gene Name SLC5A7
Protein Name High affinity choline transporter 1 (Hemicholinium-3-sensitive choline transporter) (CHT) (Solute carrier family 5 member 7)
Family SLC5
Category Transport of bile salts and organic acids, metal ions and amine compounds
Reaction name SLC5A7 cotransports Cho, Cl-, Na+ from extracellular region to cytosol
Defective SLC5A7 does not cotransport Cho, Cl-, Na+ from extracellular region to cytosol
Reaction 1 Cl- [extracellular region] + 1 Cho [extracellular region] + 1 Na+ [extracellular region] --> 1 Cho [cytosol] + 1 Na+ [cytosol] + 1 Cl- [cytosol]
1 Cl- [extracellular region] + 1 Cho [extracellular region] + 1 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 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 
MAFHVEGLIA IIVFYLLILL VGIWAAWRTK NSGSAEERSE AIIVGGRDIG LLVGGFTMTA TWVGGGYING TAEAVYVPGY GLAWAQAPIG YSLSLILGGL FFAKPMRSKG YVTMLDPFQQ IYGKRMGGLL FIPALMGEMF WAAAIFSALG ATISVIIDVD MHISVIISAL IATLYTLVGG LYSVAYTDVV QLFCIFVGLW ISVPFALSHP AVADIGFTAV HAKYQKPWLG TVDSSEVYSW LDSFLLLMLG GIPWQAYFQR VLSSSSATYA QVLSFLAAFG CLVMAIPAIL IGAIGASTDW NQTAYGLPDP KTTEEADMIL PIVLQYLCPV YISFFGLGAV SAAVMSSADS SILSASSMFA RNIYQLSFRQ NASDKEIVWV MRITVFVFGA SATAMALLTK TVYGLWYLSS DLVYIVIFPQ LLCVLFVKGT NTYGAVAGYV SGLFLRITGG EPYLYLQPLI FYPGYYPDDN GIYNQKFPFK TLAMVTSFLT NICISYLAKY LFESGTLPPK LDVFDAVVAR HSEENMDKTI LVKNENIKLD ELALVKPRQS MTLSSTFTNK EAFLDVDSSP EGSGTEDNLQ  
CCCCHHHHHH HHHHHHHHHH HHHHHHHHHC CCCCCCCCCH HHEEECCCCC HHHHHHHHHH HHHCHHHHHH HHHHHHHHCH HHHHHHHHHH HHHHHHHHHH HHHHHHHHCC CCCCCHHHHH HHCHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHCCCC HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHCC CCHHHHHHHH HHHCCCCCCC CCCCCHHHHH HHHHHHHHHH CCCHHHHHHH HHHCCCHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHCC CCCCCCCCCC CCCCCHHHHH HHHHHHCCHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHCCC CCCHHHHHHH HHHHHHHHHH HHHHHHHCCC CHHHHHHHHH HHHHHHHHHH HHHHHHCCCC CHHHHHHHHH HHHHHHHHCC CCHHCCCCCC CCCCCCCCCC CCHHCCHHHH HHHHHHHHHH HHHHHHHHHH HHHCCCCCCC CEEECCEECC CCCCCCCHHH CCCCCCCCHH HHCCCCCCCC CCCCCCCCCH HHCCCCCCCC CCCCCCCCCC
[Overview] SLC5A1 SLC5A10 SLC5A11 SLC5A12 SLC5A2 SLC5A3 SLC5A4 SLC5A5 SLC5A6 SLC5A7 SLC5A8 SLC5A9 
SLC5A1    -----------MDSSTWSPKTTAVT---RPVETHELIRNAADISIIVIYFVVVMAVGLWAMFST-NRGTVGG----FFLAGRSMVWWPIGASLFASNIGSGHFVGLAGTGAASGIAIGGFEWN-------------------------ALVLVVVLGWLFVPIYIKAGVVTMPEYLR----KRFGGQRIQVYLSLLSLLLYIFTKISADIFSGAIF------INLALGLNLYLAIFLLLAITALYTITGGLAAVIYTDTLQTVIMLVGSLILTGFAFHEVG----GYDAFMEKYMKAIPTIVS-------DGNT---TFQEKCYT-PRADSFHIFRDPLTGDLPWPGFIFGMSILTLWYWCTDQVIVQRCLSAKNMSHVKGGCILCGYLKLMPMFIM----VMPGMISRILYT----------------EKIACVVPSECEKYCGTKVGCTNIAYPTLVVEL---MPNGLRGLMLSVMLASLMSSLTSIFNSASTLFTMDIYA-KVRKRASEKELMIAGRLFILVLIGISIAWVPIVQSAQSGQLFDYIQSITSYLGPPIAAVFLLAIFWKRVNEPGAFWGLILGLLIGI-----SRMITEFA------YGTGS------------CME----------------------PS-------NCPTIIC---GVHYLYFAIILFAISFITIVVISLL--------TKPIPDVH-------------------------------------------------------LYRLCWSLRNSKEERIDLDAEEEN---------------------IQEGPKETIEIETQVPEK-----------------------------------------------KKGIFRRAYDLFCGLEQHG---APKM-----TEEEEKAMKMKMTDTSEKPLWRTVLNVNGIILVTVAVFCHAYFA-
SLC5A10   -------MAANSTSDLHTPGTQLSVA---------------DIIVITVYFALNVAVGIWSSCRA-SRNTVNG----YFLAGRDMTWWPIGASLFASSEGSGLFIGLAGSGAAGGLAVAGFEWN-------------------------ATYVLLALAWVFVPIYISSEIVTLPEYIQ----KRYGGQRIRMYLSVLSLLLSVFTKISLDLYAGALF------VHICLGWNFYLSTILTLGITALYTIAGGLAAVIYTDALQTLIMVVGAVILTIKAFDQIG----GYGQLEAAYAQAIPSRTI-------ANTT--------CHL-PRTDAMHMFRDPHTGDLPWTGMTFGLTIMATWYWCTDQVIVQRSLSARDLNHAKAGSILASYLKMLPMGLI----IMPGMISRALFPGAHVYEERHQVSVSRTDDVGCVVPSECLRACGAEVGCSNIAYPKLVMEL---MPIGLRGLMIAVMLAALMSSLTSIFNSSSTLFTMDIWR-RLRPRSGERELLLVGRLVIVALIGVSVAWIPVLQDSNSGQLFIYMQSVTSSLAPPVTAVFVLGVFWRRANEQGAFWGLIAGLVVGA-----TRLVLEFL------NPAPP------------CGE----------------------PD-------TRPAVLG---SIHYLHFAVALFALSGAVVVAGSLL--------TPPPQSVQ-------------------------------------------------------IENLTWWTL-------------------------------AQDVPLGTKAGD----GQ--------------------------------------------------------------------------TPQK----------------------HAFWARVCGFNAILLMCVNIFFYAYFA-
SLC5A11   --------MESGTSSPQPPQLDPLDAF-PQKGLE-----PGDIAVLVLYFLFVLAVGLWSTVKT-KRDTVKG----YFLAGGDMVWWPVGASLFASNVGSGHFIGLAGSGAATGISVSAYELN-------------------------GLFSVLMLAWIFLPIYIAGQVTTMPEYLR----KRFGGIRIPIILAVLYLFIYIFTKISVDMYAGAIF------IQQSLHLDLYLAIVGLLAITAVYTVAGGLAAVIYTDALQTLIMLIGALTLMGYSFAAVG----GMEGLKEKYFLALASNRS-------ENSS--------CGL-PREDAFHIFRDPLTSDLPWPGVLFGMSIPSLWYWCTDQVIVQRTLAAKNLSHAKGGALMAAYLKVLPLFIM----VFPGMVSRILFP----------------DQVACADPEICQKICSNPSGCSDIAYPKLVLEL---LPTGLRGLMMAVMVAALMSSLTSIFNSASTIFTMDLWN-HLRPRASEKELMIVGRVFVLLLVLVSILWIPVVQASQGGQLFIYIQSISSYLQPPVAVVFIMGCFWKRTNEKGAFWGLISGLLLGL-----VRLVLDFI------YVQPR------------CDQ----------------------PD-------ERPVLVK---SIHYLYFSMILSTVTLITVSTVSWF--------TEPPSKEM-------------------------------------------------------VSHLTWFTRHDPVVQ-----KEQAPPAA-----------PLSLTLSQNGMPEASSSSSVQFEMVQ------------------------ENTSKTHSCDM--------TPKQSKVVKAILWLCGIQEKG------------KEELPARAEAIIVSLEENPLVKTLLDVNLIFCVSCAIFIWGYFA-
SLC5A12   ---------ME---------------------VK--NFAVWDYVVFAALFFISSGIGVFFAIKERKKATSRE----FLVGGRQMSFGPVGLSLTASFMSAVTVLGTPSEVYRFGASFLVFFIA-------------------------YLFVILLTSELFLPVFYRSGITSTYEYLQ----LRFN--KPVRYAATVIYIVQTILYTGVVVYAPALA------LNQVTGFDLWGSVFATGIVCTFYCTLGGLKAVVWTDAFQMVVMIVGFLTVLIQGSTHAG----GFHNVLEQ-----------------STNG------------SRLHIFDFDVDPLRRHTFWT-ITVGGTFTWLGIYGVNQSTIQRCISCKTEKHAKLALY----FNLLGLWIILVCAVFSGLIMYSHFK----------------D---------CDPWTSGIISAPDQLMPYFVMEIFATMP-GLPGLFVACAFSGTLSTVASSINALATVTFEDFVK-SCFPHLSDKLSTWISKGLCLLFGVMCTS-MAVAASVM-GGVVQASLSIHGMCGGPMLGLFSLGIVFPFVNWKGALGGLLTGITLSF-----WVAIGAFI------YPAPASKTWPLPLSTDQCIK-SN-----VTATGPPVLSS-------------RPGIADTWYSISYLYYSAVGCLGCIVAGVIISLI--------T-GRQRGE-------------------------------------------DIQPLLIRP---VCNLFCFWSKK--------------------------YKTLCWCGVQH---DS-GTEQ---ENLEN------------------------------------------GSARKQGAESVL-QNGLRRESLVHVPGY--------DPKDKSYNNMAFETTHF-------------------------
SLC5A2    --------MEEHTEAGSAPEMGAQKA---------LIDNPADILVIAAYFLLVIGVGLWSMCRT-NRGTVGG----YFLAGRSMVWWPVGASLFASNIGSGHFVGLAGTGAASGLAVAGFEWN-------------------------ALFVVLLLGWLFAPVYLTAGVITMPQYLR----KRFGGRRIRLYLSVLSLFLYIFTKISVDMFSGAVF------IQQALGWNIYASVIALLGITMIYTVTGGLAALMYTDTVQTFVILGGACILMGYAFHEVG----GYSGLFDKYLGAATSLTV-------SEDPAVGNISSFCYR-PRPDSYHLLRHPVTGDLPWPALLLGLTIVSGWYWCSDQVIVQRCLAGKSLTHIKAGCILCGYLKLTPMFLM----VMPGMISRILYP----------------DEVACVVPEVCRRVCGTEVGCSNIAYPRLVVKL---MPNGLRGLMLAVMLAALMSSLASIFNSSSTLFTMDIYT-RLRPRAGDRELLLVGRLWVVFIVVVSVAWLPVVQAAQGGQLFDYIQAVSSYLAPPVSAVFVLALFVPRVNEQGAFWGLIGGLLMGL-----ARLIPEFS------FGSGS------------CVQ----------------------PS-------ACPAFLC---GVHYLYFAIVLFFCSGLLTLTVSLC--------TAPIPRKH-------------------------------------------------------LHRLVFSLRHSKEEREDLDADEQQ----------------GSSLPVQNGCPES-AMEMNEPQA----------------------------------------------PAPSLFRQCLLWFCGMSRGGVGSPPPL-----TQEEAAAAARRLEDISEDPSWARVVNLNALLMMAVAVFLWGFYA-
SLC5A3    -----------------------MRA----------VLDTADIAIVALYFILVMCIGFFAMWKS-NRSTVSG----YFLAGRSMTWVTIGASLFVSNIGSEHFIGLAGSGAASGFAVGAWEFN-------------------------ALLLLQLLGWVFIPIYIRSGVYTMPEYLS----KRFGGHRIQVYFAALSLILYIFTKLSVDLYSGALF------IQESLGWNLYVSVILLIGMTALLTVTGGLVAVIYTDTLQALLMIIGALTLMIISIMEIG----GFEEVKRRYMLASPDVTSILLTYNLSNTNS-------CNVSPKKEALKMLRNPTDEDVPWPGFILGQTPASVWYWCADQVIVQRVLAAKNIAHAKGSTLMAGFLKLLPMFII----VVPGMISRILFT----------------DDIACINPEHCMLVCGSRAGCSNIAYPRLVMKL---VPVGLRGLMMAVMIAALMSDLDSIFNSASTIFTLDVYK-LIRKSASSRELMIVGRIFVAFMVVISIAWVPIIVEMQGGQMYLYIQEVADYLTPPVAALFLLAIFWKRCNEQGAFYGGMAGFVLGA-----VRLILAFA------YRAPE------------CDQ----------------------PD-------NRPGFIK---DIHYMYVATGLFWVTGLITVIVSLL--------TPPPTKEQ-------------------------------------------------------IRTTTFWSKKNLVVKENCSPKEEPYQMQEKSILRCSENNETINHIIPNGKSED-SIKGLQPEDVNLLVTCREEGNPVASLGHSEAETPVDAYSNGQAALMGEKERKKETDDGGRYWKFIDWFCGFKSKS---LSKRSLRDLMEEEAVCLQM----LEETRQVKVILNIGLFAVCSLGIFMFVYFSL
SLC5A4    ------------MASTVSPSTIAETPEPPPLSDH--IRNAADISVIVIYFLVVMAVGLWAMLKT-NRGTIGG----FFLAGRDMAWWPMGASLFASNIGSNHYVGLAGTGAASGVATVTFEWT-------------------------SSVMLLILGWIFVPIYIKSGVMTMPEYLK----KRFGGERLQVYLSILSLFICVVLLISADIFAGAIF------IKLALGLDLYLAIFILLAMTAVYTTTGGLASVIYTDTLQTIIMLIGSFILMGFAFNEVG----GYESFTEKYVNATPSVVE-------GDNL---TISASCYT-PRADSFHIFRDAVTGDIPWPGIIFGMPITALWYWCTNQVIVQRCLCGKDMSHVKAACIMCAYLKLLPMFLM----VMPGMISRILYT----------------DMVACVVPSECVKHCGVDVGCTNYAYPTMVLEL---MPQGLRGLMLSVMLASLMSSLTSIFNSASTLFTIDLYT-KMRKQASEKELLIAGRIFVLLLTVVSIVWVPLVQVSQNGQLIHYTESISSYLGPPIAAVFVLAIFCKRVNEQGAFWGLMVGLAMGL-----IRMITEFA------YGTGS------------CLA----------------------PS-------NCPKIIC---GVHYLYFSIVLFFGSMLVTLGISLL--------TKPIPDVH-------------------------------------------------------LYRLCWVLRNSTEERIDIDAEEKS---------------------QEETDD---GVEEDYPEK-----------------------------------------------SRGCLKKAYDLFCGLQK-----GPKL-----TKEEEEALSKKLTDTSERPSWRTIVNINAILLLAVVVFIHGYYA-
SLC5A5    ---------MEAVETGERP-----------------TFGAWDYGVFALMLLVSTGIGLWVGLARGGQRSAED----FFTGGRRLAALPVGLSLSASFMSAVQVLGVPSEAYRYGLKFLWMCLG-------------------------QLLNSVLTALLFMPVFYRLGLTSTYEYLE----MRFS--RAVRLCGTLQYIVATMLYTGIVIYAPALI------LNQVTGLDIWASLLSTGIICTFYTAVGGMKAVVWTDVFQVVVMLSGFWVVLARGVMLVG----GPRQVLTL-----------------AQNH------------SRINLMDFNPDPRSRYTFWT-FVVGGTLVWLSMYGVNQAQVQRYVACRTEKQAKLALL----INQVGLFLIVSSAACCGIVMFVFYT----------------D---------CDPLLLGRISAPDQYMPLLVLDIFEDLP-GVPGLFLACAYSGTLSTASTSINAMAAVTVEDLIK-PRLRSLAPRKLVIISKGLSLIYGSACLT-VAALSSLLGGGVLQGSFTVMGVISGPLLGAFILGMFLPACNTPGVLAGLGAGLALSL-----WVALGATL------YPPSEQTMRVLPSSAARCVALSVNASGLLDPALLPANDSSRAPSS--GMDASRPALADSFYAISYLYYGALGTLTTVLCGALISCL--------TGPTKRSTLAPGLLWWDLARQTASVAPKEEVAILDDNLVKGPEELPTGNKKPPGFLPTNED-RL----FFLGQKEL----------------------EGAGSWTPC-VGH---DG-GRDQQE-TNL--------------------------------------------------------------------------------------------------------------------------
SLC5A6    ---------MSVGVSTSAPLSPTSGT---SVGMS--TFSIMDYVVFVLLLVLSLAIGLYHACRGWGRHTVGE----LLMADRKMGCLPVALSLLATFQSAVAILGVPSEIYRFGTQYWFLGCC-------------------------YFLGLLIPAHIFIPVFYRLHLTSAYEYLE----LRFN--KTVRVCGTVTFIFQMVIYMGVVLYAPSLA------LNAVTGFDLWLSVLALGIVCTVYTALGGLKAVIWTDVFQTLVMFLGQLAVIIVGSAKVG----GLGRVWAV-----------------ASQH------------GRISGFELDPDPFVRHTFWT-LAFGGVFMMLSLYGVNQAQVQRYLSSRTEKAAVLSCYAVFPFQQVSLCV----GCLIGLVMFAYYQ----------------E---------YPMSIQQAQAAPDQFVLYFVMDLLKGLP-GLPGLFIACLFSGSLSTISSAFNSLATVTMEDLIR-PWFPEFSEARAIMLSRGLAFGYGLLCLG-MAYISSQM-GPVLQAAISIFGMVGGPLLGLFCLGMFFPCANPPGAVVGLLAGLVMAF-----WIGIGSIVTSMGSSMPPSPSNGSSFSLPTNLTVA--------TVTTLMPLTTF------------SKPTGLQRFYSLSYLWYSAHNSTTVIVVGLIVSLL--------T-GRMRGR----------SLNPATIYPV----------------LPK----------------LLSLLPLSCQKRLH--------------------CRSYGQ------DH--LDT-GLFPEKPRNGVL------------------------------------------GDSRDKEAMAL---DGTAYQG--------------------SSSTCILQETSL-------------------------
SLC5A7    -----------------------------------MAFHVEGLIAIIVFYLLILLVGIWAAWRTKNSGSAEERSEAIIVGGRDIGLLVGGFTMTATWVGGGYINGTAEAVYVPGYGLAWAQAP-------------------IG----YSLSLILGGLFFAKPMRSKGYVTMLDPFQQIYGKRMGG------------LLFIPALMGEMFWAAAIFSALGATISVIIDVDMHISVIISALIATLYTLVGGLYSVAYTDVVQLFCIFVGLWISVPFALSHPAVADIGFTAVHAKYQKPWLGTVD-------SSEVY-----------SWLDSFLLL---MLGGIPW------------------QAYFQRVLSSSSATYAQVLSF----LAAFGCLVMAIPAILIGAIGASTDW----------------NQTAYGLPD------PKTTEEADMILPIVLQYL---CPVYISFFGLGAVSAAVMSSADSSILSASSMFARNIYQLSFRQNASDKEIVWVMRITVFVFGASATA-MALLTKTVYGLWYLSSDLVYIVIFPQLLCV----LFVKGTNTYGAVAGYVSGLFLRITGGEPYLYLQPLIF-----YPGYY-------------------------------------PDDNGIYNQKFP-------------FKTLAMVTSFLTNICISYLAKYLFESGTLPPKLDV-------FD-----AVVARHSE-----ENM-------------DKTILVKNENIKLDELALVKPRQSMTLSSTFTNKEA-------------FLDVDSSPEGSGTEDN------------------------------------------------------------------------------------------------------LQ-----------------------------
SLC5A8    ---------MDT------PR-----------GIG--TFVVWDYVVFAGMLVISAAIGIYYAFAGGGQQTSKD----FLMGGRRMTAVPVALSLTASFMSAVTVLGTPSEVYRFGAIFSIFAFT-------------------------YFFVVVISAEVFLPVFYKLGITSTYEYLE----LRFN--KCVRLCGTVLFIVQTILYTGIVIYAPALA------LNQVTGFDLWGAVVATGVVCTFYCTLGGLKAVIWTDVFQVGIMVAGFASVIIQAVVMQG----GISTILND-----------------AYDG------------GRLNFWNFNPNPLQRHTFWT-IIIGGTFTWTSIYGVNQSQVQRYISCKSRFQAKLSLY----INLVGLWAILTCSVFCGLALYSRYH----------------D---------CDPWTAKKVSAPDQLMPYLVLDILQDYP-GLPGLFVACAYSGTLSTVSSSINALAAVTVEDLIK-PYFRSLSERSLSWISQGMSVVYGALCIG-MAALASLM-GALLQAALSVFGMVGGPLMGLFALGILVPFANSIGALVGLMAGFAISL-----WVGIGAQI------YPPLPERTLPLHLDIQGCNS-TYNETNLMTTTEMPFTTSVFQI-----YNVQRTPLMDNWYSLSYLYFSTVGTLVTLLVGILVSLS--------TGGRKQNL-------------------------------------------DPRYILTKED-FLSNFDIFKKKKHV----------------------LSYKS-------HPVEDG-GTDNPAFNHIEL------------------------------------------NS--DQSGKS----NGTRL-----------------------------------------------------------
SLC5A9    MSKELAAMGPGASGDGVRTETAPHIALDSRVGLH-----AYDISVVVIYFVFVIAVGIWSSIRA-SRGTIGG----YFLAGRSMSWWPIGASLMSSNVGSGLFIGLAGTGAAGGLAVGGFEWNMRKSRSGGDRGIHPRSHGRTGVRSQATWLLLALGWVFVPVYIAAGVVTMPQYLK----KRFGGQRIQVYMSVLSLILYIFTKISTDIFSGALF------IQMALGWNLYLSTGILLVVTAVYTIAGGLMAVIYTDALQTVIMVGGALVLMFLGFQDVG----WYPGLEQRYRQAIPNVTV-------PNTT--------CHL-PRPDAFHILRDPVSGDIPWPGLIFGLTVLATWCWCTDQVIVQRSLSAKSLSHAKGGSVLGGYLKILPMFFI----VMPGMISRALFP----------------DEVGCVDPDVCQRICGARVGCSNIAYPKLVMAL---MPVGLRGLMIAVIMAALMSSLTSIFNSSSTLFTIDVWQ-RFRRKSTEQELMVVGRVFVVFLVVISILWIPIIQSSNSGQLFDYIQAVTSYLAPPITALFLLAIFCKRVTEPGAFWGLVFGLGVGL-----LRMILEFS------YPAPA------------CGE----------------------VD-------RRPAVLK---DFHYLYFAILLCGLTAIVIVIVSLC--------TTPIPEEQ-------------------------------------------------------LTRLTWWTRNCPLSELEKEAHESTPEISE---------RPAGECPAGGGAAENSSLGQEQPEA----------------------------------------------PSRSWGKLLWSWFCGLSG-----TPEQA---LSPAEKAALEQKLTSIEEEPLWRHVCNINAVLLLAINIFLWGYFA-

Variant
check gene name residue number Reference Amino Acid / Variant Amino Acid minor allele frequency rs number
-- SLC5A7 16 L/F 0.00174968 rs143876748
-- SLC5A7 89 I/V 0.0926236 rs1013940
-- SLC5A7 238 Y/C 0.0028238 rs142776152
-- SLC5A7 413 V/I 0.000509266 rs138945146
-- SLC5A7 436 V/M 0.000107494 rs148535388
-- SLC5A7 485 V/I 0.00010362 rs754211137
-- SLC5A7 510 K/T 0.000262869 rs199693962
-- SLC5A7 548 R/Q 0.000127629 rs199864231

Phylogenetic tree

Pathway
Priority Gene Name Reactome (Gene) Reactome (Pathway)
main SLC5A7 SLC5A7 [plasma membrane] Transport of bile salts and organic acids, metal ions and amine compounds
SLC5A7 SLC5A7 [plasma membrane] Acetylcholine Neurotransmitter Release Cycle

Disease
Gene Name Reactome (Gene) Reactome (Pathway)
SLC5A7 SLC5A7 K499Nfs*13 [plasma membrane] Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A)
SLC5A7 SLC5A7 K499Nfs*13 [plasma membrane] Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A)