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Structure
Seq./Align.
Variant
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Disease

Detail Data SLC18A3


Basic description
Gene Name SLC18A3
Protein Name Vesicular acetylcholine transporter (VAChT) (Solute carrier family 18 member 3)
Family SLC18
Category -
Reaction name Loading of acetylcholine in synaptic vesicle
Reaction 2 H+ [clathrin-sculpted acetylcholine transport vesicle lumen] + 1 Empty Acetylcholine Synaptic Vesicle [cytosol] + 1 AcCho [cytosol] --> 2 H+ [cytosol] + 1 Acetylcholine Loaded Synaptic Vesicle [cytosol]

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 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 
MESAEPAGQA RAAATKLSEA VGAALQEPRR QRRLVLVIVC VALLLDNMLY MVIVPIVPDY IAHMRGGGEG PTRTPEVWEP TLPLPTPANA SAYTANTSAS PTAAWPAGSA LRPRYPTESE DVKIGVLFAS KAILQLLVNP LSGPFIDRMS YDVPLLIGLG VMFASTVLFA FAEDYATLFA ARSLQGLGSA FADTSGIAMI ADKYPEEPER SRALGVALAF ISFGSLVAPP FGGILYEFAG KRVPFLVLAA VSLFDALLLL AVAKPFSAAA RARANLPVGT PIHRLMLDPY IAVVAGALTT CNIPLAFLEP TIATWMKHTM AASEWEMGMA WLPAFVPHVL GVYLTVRLAA RYPHLQWLYG ALGLAVIGAS SCIVPACRSF APLVVSLCGL CFGIALVDTA LLPTLAFLVD VRHVSVYGSV YAIADISYSV AYALGPIVAG HIVHSLGFEQ LSLGMGLANL LYAPVLLLLR NVGLLTRSRS ERDVLLDEPP QGLYDAVRLR ERPVSGQDGE PRSPPGPFDA CEDDYNYYYT RS 
CCCCCCHHHH HHHHHHHHHH HHHHHHCHHH CCHHHHHHHH HHHHHHHHHH HHHHHCCHHH HHHHCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCH HHHHHHHHHH HHHHHHHHCH HHHHHHHCCC CHHHHHHHHH HHHHHHHHHH HCCCHHHHHH HHHHHHHHHH HHHHHHHHHH HHHCCCHHHH HHHHHHHHHH HHHHHHCCHH HHHHHHHHCC CHHHHHHHHH HHHHHHHHHH HHHCCCCHHH HHHCCCCCCC CHHHHHHCHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHC CCCHHHHHHH HHHHHHHHHH HHHHHHHHHH HCCHHHHHHH HHHHHHHHHH HCCCHHCCCH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHC CCCHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHCCCHH HHHHHHHHHH HHHHHHHHHH HHCCCCCCHH HHHHHCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CC
[Overview] SLC18A1 SLC18A2 SLC18A3 SLC18B1 
SLC18A1   -----------------------MLRTIL-DAPQRLLKEGRASRQLVLVVVFVAL--LLDNMLFTVVVPIVPTFLYDMEFKEVNSSLHLG---HAGSSPHALASPAFSTIFSFFNNNTVAVEESV------PSGIAWMNDTASTIPPPATEAISAHKNNCLQGTGFLEEEITRVGVLFASKAVMQLLVNPFVGPLTNRIGYHIPMFAGFVIMFLS---TVMFAFSGT-------YTLLFVARTLQGIGSSFSSVAGLGMLASVYTDDHERGRAMGTALGGLALGLLVGAPFGSVMYEFVGKSAPFLILAFLALLDGALQLCILQP----SKVSPESAKGT-PLFMLLKDPYILVAAGSICFANMGVAILEPTLPIWMMQTMCSPKWQLGLAFLPASVSYLIGTNLFGVLANKMG---RWLCSLIGMLVVGTSLLC--VPLAH---NIFGLIGPNAGLGLAIGMVDSSMMPIMGHLVDLRH-------TSVYGSVYAIADVAFCMGFAIGPSTGGAIVKAIGFPWLMVITGVINIV--YAPLCYYLRS----PPAK--------EEKLAIL-SQDCPMETRMYATQKPTKEFPL-GEDSDE----------EPDHEE-----
SLC18A2   -----------------------MALSEL--ALVRWLQESRRSRKLILFIVFLAL--LLDNMLLTVVVPIIPSYLYSIKHEKNATEIQTARPVHTAS-----ISDSFQSIFSYYDNSTMVTGNATRDLTLHQTATQHMVTNASAVP-----------SDCPSEDKDLLNENVQVGLLFASKATVQLITNPFIGLLTNRIGYPIPIFAGFCIMFVS---TIMFAFSSS-------YAFLLIARSLQGIGSSCSSVAGMGMLASVYTDDEERGNVMGIALGGLAMGVLVGPPFGSVLYEFVGKTAPFLVLAALVLLDGAIQLFVLQP----SRVQPESQKGT-PLTTLLKDPYILIAAGSICFANMGIAMLEPALPIWMMETMCSRKWQLGVAFLPASISYLIGTNIFGILAHKMG---RWLCALLGMIIVGVSILC--IPFAK---NIYGLIAPNFGVGFAIGMVDSSMMPIMGYLVDLRH-------VSVYGSVYAIADVAFCMGYAIGPSAGGAIAKAIGFPWLMTIIGIIDIL--FAPLCFFLRS----PPAK--------EEKMAILMDHNCPIKTKMY-TQNNIQSYPI-GEDEES----------ESD--------
SLC18A3   MESA------------EPAGQARAAATKLSEAVGAALQEPRRQRRLVLVIVCVAL--LLDNMLYMVIVPIVPDYIAHMR--------------GGGEGP----------------TRTPEVWEPTLPLPT-PANASAYTANTSASPTAAWPAGSALRPRYPTES-----EDVKIGVLFASKAILQLLVNPLSGPFIDRMSYDVPLLIGLGVMFAS---TVLFAFAED-------YATLFAARSLQGLGSAFADTSGIAMIADKYPEEPERSRALGVALAFISFGSLVAPPFGGILYEFAGKRVPFLVLAAVSLFDALLLLAVAKPFSAAARARANLPVGT-PIHRLMLDPYIAVVAGALTTCNIPLAFLEPTIATWMKHTMAASEWEMGMAWLPAFVPHVLGVYLTVRLAARYPH-LQWLYGALGLAVIGASSCI--VPACR---SFAPLVVSLCGLCFGIALVDTALLPTLAFLVDVRH-------VSVYGSVYAIADISYSVAYALGPIVAGHIVHSLGFEQLSLGMGLANLL--YAPVLLLLRNVGLLTRSR--------SERDVLL---DEPPQG-LY-DAVRLRERPVSGQDGEPRSPPGPFDACEDDYNYYYTRS
SLC18B1   MEALGDLEGPRAPGGDDPAGSAGETPGWL-------------SREQVFVLISAASVNLGSMMCYSILGPFFP---------------------KEAEKKGA--------------------------------------------------------------------SNTIIGMIFGCFALFELLASLVFGNYLVHIGAKFMFVAG---MFVSGGVTILFGVLDRVPDGPVFIAMCFLVRVMDAVSFAAAMTASSSILAKAFPNN--VATVLGSLETFSGLGLILGPPVGGFLYQSFGYEVPFIVLGCVVLLMVPLNMYILPNY--------ESDPGEHSFWKLIALPKVGLIAFVINSLSSCFGFLDPTLSLFVLEKFNLPAGYVGLVFLGMALSYAISSPLFGLLSDKRPPLRKWLLVFGNLITAGCYMLLGPVPILHIKSQLWLLVLILVVSGLSAGM---SIIPTFPEILSCAHENGFEEGLSTLGLVSGLFSAMWSIGAFMGPTLGGFLYEKIGFEWAAAIQGLWALISGLAMGLFYLLEYSRRKRSKSQNILSTEEERTTLL-----PNET------------------------------------------

Variant
check gene name residue number Reference Amino Acid / Variant Amino Acid minor allele frequency rs number
-- SLC18A3 11 R/Q 0.00018448 rs8187732
-- SLC18A3 13 A/P 0.000523325 rs8187733
-- SLC18A3 14 A/V 0.000380019 rs199520651
-- SLC18A3 29 R/W 0.00049074 rs8187734
-- SLC18A3 30 R/W 0.000190568 rs8187735
-- SLC18A3 61 I/M 0.000218953 rs77672173
-- SLC18A3 70 G/S 0.000298637 rs758567871
-- SLC18A3 148 R/C 0.000167106 rs201839613
-- SLC18A3 208 P/R 0.000331604 rs374160245
-- SLC18A3 261 A/P 0.00029881 rs139732053
-- SLC18A3 344 L/V 0.000272502 rs78571038
-- SLC18A3 426 I/V 0.000554346 rs118107581
-- SLC18A3 520 A/E 0.999149 rs8187730
-- SLC18A3 531 R/C 0.000136816 rs148062083
-- SLC18A3 532 S/N 0.000103286 rs374783600

Phylogenetic tree

Pathway
Priority Gene Name Reactome (Gene) Reactome (Pathway)
SLC18A3 SLC18A3 [clathrin-sculpted acetylcholine transport vesicle membrane] Acetylcholine Neurotransmitter Release Cycle
SLC18A3 SLC18A3 [plasma membrane] Acetylcholine Neurotransmitter Release Cycle
SLC18A3 SLC18A3 [plasma membrane] Cargo recognition for clathrin-mediated endocytosis
SLC18A3 SLC18A3 [plasma membrane] Clathrin-mediated endocytosis
SLC18A3 SLC18A3 [clathrin-coated endocytic vesicle membrane] Clathrin-mediated endocytosis

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