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Variant
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Pathway
Disease

Detail Data SLC33A1


Basic description
Gene Name SLC33A1
Protein Name Acetyl-coenzyme A transporter 1 (AT-1) (Acetyl-CoA transporter 1) (Solute carrier family 33 member 1)
Family SLC33
Category Transport of vitamins, nucleosides, and related molecules
Reaction name SLC33A1 transports Ac-CoA from cytosol to Golgi lumen
Reaction 1 Ac-CoA [cytosol] --> 1 Ac-CoA [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 5 1 0 5 2 0 5 3 0 5 4 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 
MSPTISHKDS SRQRRPGNFS HSLDMKSGPL PPGGWDDSHL DSAGREGDRE ALLGDTGTGD FLKAPQSFRA ELSSILLLLF LYVLQGIPLG LAGSIPLILQ SKNVSYTDQA FFSFVFWPFS LKLLWAPLVD AVYVKNFGRR KSWLVPTQYI LGLFMIYLST QVDRLLGNTD DRTPDVIALT VAFFLFEFLA ATQDIAVDGW ALTMLSRENV GYASTCNSVG QTAGYFLGNV LFLALESADF CNKYLRFQPQ PRGIVTLSDF LFFWGTVFLI TTTLVALLKK ENEVSVVKEE TQGITDTYKL LFAIIKMPAV LTFCLLILTA KIGFSAADAV TGLKLVEEGV PKEHLALLAV PMVPLQIILP LIISKYTAGP QPLNTFYKAM PYRLLLGLEY ALLVWWTPKV EHQGGFPIYY YIVVLLSYAL HQVTVYSMYV SIMAFNAKVS DPLIGGTYMT LLNTVSNLGG NWPSTVALWL VDPLTVKECV GASNQNCRTP DAVELCKKLG GSCVTALDGY YVESIICVFI GFGWWFFLGP KFKKLQDEGS SSWKCKRNN 
CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCHH HHCCCCCCCC CCCCCHHHHH HHHHHHHHHH HHHHCCHHHH HHHHHHHHHH HCCCCHHHHH HHHHHHHHHH HHHHHHHHHH CCCCCCCCCC CCHHHHHHHH HHHHHHHHHH CHHHHHCCCC CCCHHHHHHH HHHHHHHHHH HHCHHHHHHH HHHCCCHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHCCHH HHHHHHHCCH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH CCCCCCCHHH CCCHHHHHHH HHHHHCCHHH HHHHHHHHHH HHCHHHHHHH HCHHHHHCCC CHHHHHHHHH HHHHHHHHHH HHHHHHHCCC CHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHCCCCCHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHC CCCCHHHHHH HHHHHHCCCC CCCHHHHHHH CHHCCHHHHH CCCCCCCCCH HHHHHHHHHC CCEEECCCCC HHHHHHHHHH HHHHHHHHHH HHHHHHHCCH HHCCCCCCC
[Overview] SLC33A1 SLC33A2 
SLC33A1   MSPTISHKDSSRQRRPGNFSHSLDMKSGPLPPGGWDDSHLDSAGREGDREALLGDTGTGDFLKAPQSFRAELSSILLLLFLYVLQGIPLGL-AGSIPLILQSKNVSYTDQAFFSFVFWPFSLKLLWAPLVDAVYVKNFGRRKSWLVPTQYILGLFMIYLSTQVDRLL------GNTDDRTPDVIALTVAFFLFEFLAATQDIAVDGWALTMLSRENVGYASTCNSVGQTAGYFLGNVLFLALESADFCNKYLRFQPQPRGIVTLSDFLFFWGTVFLI---TTTLVA-------LLKKENEVSVVKEETQGITDTYKLLFAIIKMPAVLTFCLLILTAKIGFSAADAVTGLKLVEEGVPKEHLALL-AVPMVPLQIILPLIISKYTAGPQPLNTFYKAMP-YRLLLGLEYALLVWWTPKVEH--------------QGGFPIYYYIVVLLSYALHQV---TVYSMYVSIMAFNAKVSDPLIGGTYMTLLNTVSNLGGNWPSTVALWLVDPLTVKECVGASNQNCRTPDAVELCKKLGGSCVTALDGYYVESIICVFIGFGWWFFLGPKFKKLQDEGSSSWKCKRNN
SLC33A2   ------------------------MRGKLLPLAG----------------------------------------------LYLVQGLPYGLQSGLLPVLLRAGGLSLTRVGLAKVLYAPWLLKLAWAPLVDAQ-----GSARAWVTRSTAGLGL--------VCGLLAGLPPPGAGQAGLPAAVA--GLLLLLNLGAAMQDVALDALAVQLLEPAELGPGNTVQVVAYKLGAALAGGALLALLPT-----------------------FSWPQLFLLLAATYWLAAALAWAAPALRRLPQQPPSEQRPH----TAHLLRDVLAVPGTVWTAGFVLTYKLGEQGASSLFPLLLLDHGVSAPELGLWNGVGAVVCS------IAGSSLGGTLLAKHWKLLPLLRSVLRFRLGGLACQTALVFHLDTLGASMDAGTILRGS--------ALLSLCLQHFLGGLVTTVTFTGMMRCSQLAPRALQATHYSLLATLELLGKLLLGTLAGGLADGLGPHPCF------------------LLLLILSAFPVLYLDLAPSTFL-----------------------------

Variant
check gene name residue number Reference Amino Acid / Variant Amino Acid minor allele frequency rs number
-- SLC33A1 46 E/K 0.00231721 rs149571533
-- SLC33A1 57 G/R 0.00051718 rs150651158
-- SLC33A1 124 L/F 0.000346048 rs141818342
-- SLC33A1 171 D/G 0.0829024 rs3804769
-- SLC33A1 283 E/K 0.000484129 rs200789237
-- SLC33A1 484 N/T 0.00174968 rs144015992
-- SLC33A1 509 G/S 0.00180332 rs76440173
-- SLC33A1 520 I/T 0.000254657 rs777143987
-- SLC33A1 527 F/V 0.000131278 rs200914930
-- SLC33A1 548 N/D 0.000123312 rs767949889

Phylogenetic tree

Pathway
Priority Gene Name Reactome (Gene) Reactome (Pathway)
main SLC33A1 SLC33A1 [Golgi membrane] Transport of vitamins, nucleosides, and related molecules

Disease
Gene Name Reactome (Gene) Reactome (Pathway)
SLC33A1 SLC33A1 Y366* [Golgi membrane] Defective SLC33A1 causes spastic paraplegia 42 (SPG42)
SLC33A1 SLC33A1 S113R [Golgi membrane] Defective SLC33A1 causes spastic paraplegia 42 (SPG42)
SLC33A1 SLC33A1 A110P [Golgi membrane] Defective SLC33A1 causes spastic paraplegia 42 (SPG42)