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Detail Data SLC29A3
Basic description
| Gene Name | SLC29A3 |
|---|---|
| Protein Name | Equilibrative nucleoside transporter 3 (hENT3) (Solute carrier family 29 member 3) |
| Family | SLC29 |
| Category | Transport of vitamins, nucleosides, and related molecules |
| Reaction name |
SLC29A3 transports nucleosides from lysosomal lumen to cytosol SLC29A3 transports nucleosides from cytosol to lysosomal lumen |
| Reaction |
1 nucleosides [lysosomal lumen] --> 1 nucleosides [cytosol] 1 nucleosides [cytosol] --> 1 nucleosides [lysosomal lumen] |
[Overview]
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 MAVVSEDDFQ HSSNSTYRTT SSSLRADQEA LLEKLLDRPP PGLQRPEDRF CGTYIIFFSL GIGSLLPWNF FITAKEYWMF KLRNSSSPAT GEDPEGSDIL NYFESYLAVA STVPSMLCLV ANFLLVNRVA VHIRVLASLT VILAIFMVIT ALVKVDTSSW TRGFFAVTIV CMVILSGAST VFSSSIYGMT GSFPMRNSQA LISGGAMGGT VSAVASLVDL AASSDVRNSA LAFFLTATVF LVLCMGLYLL LSRLEYARYY MRPVLAAHVF SGEEELPQDS LSAPSVASRF IDSHTPPLRP ILKKTASLGF CVTYVFFITS LIYPAICTNI ESLNKGSGSL WTTKFFIPLT TFLLYNFADL CGRQLTAWIQ VPGPNSKALP GFVLLRTCLI PLFVLCNYQP RVHLKTVVFQ SDVYPALLSS LLGLSNGYLS TLALLYGPKI VPRELAEATG VVMSFYVCLG LTLGSACSTL LVHLI CCCCCCCCCC CCCCCCCCCC CCCCCHHHHH HHHHHCCCCC CCCCCCCCHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHCCCCCCC CCCCCCCCHH HHHHHHHHHH HHHHHHHHHH HHHHHHCCHH HHHHHHHHHH HHHHHHHHHH HHHHCCCCCC CCCCCHHHHH HHHHHCCCHH HHHCCCCCCC CCCCHHHHHH HHHHHCHHHH HHHHHHHHHH HCCCCCHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH CCCHHHHCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCHH HHHHHHHHHH HHHHHHHHHH CCCCCCEEEE ECCCCCCCCC CCCCCCCCCH HHHHHHHHHH CCCCHHHHHC CCCCCCCCHH HHHHHHHCCH HHHHHHHCCC CCCCCCEECC CCHHHHHHHH HHHHHCCHHH HHHHHHCCCC CCHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHC
[Overview]
SLC29A1 MT--------------------------TSHQ-----------------------------------PQDRYKAVWLIFFMLGLGTLLPWNFFMTATQYFTNRLDMSQNVSLVTAELSKDAQASAAPAAPLPERNSLSAIFNNVMTLCAMLPLLLFTYLNSFLHQRIPQSVRILGS-LVAILLVFLITAILVKVQLDALP--FFVITMIKIVLINSFGAILQGSLFGLAGLLPASYTAPIMSGQGLAGFFASVAMICAIASGSELSESAFGYFITACAVIILTIICYLGLPRLEFYRYY-----QQLKLEG-PG-----EQETKLDLISKG----EEPRAGKEESGVSVS------------NSQPTNE-------------------------SHSIKAIL-------KNISVLAFSVCFIFTITIGMFPAVTVEVKSSIAGSST-W-ERYFIPVSCFLTFNIFDWLGRSLTAV-FMWPGKDSRWLPSLVLARLVFVPLLLLCNIKPRRYL-TVVFEHDAWFIFFMAAFAFSNGYLASLCMCFGPKKVKPAEAETAGAIMAFFLCLGLALGAVFSFLFRAIV--------------------- SLC29A2 MA--------------------------RGDA-----------------------------------PRDSYHLVGISFFILGLGTLLPWNFFITAIPYFQARLAGAGN---STARI-----LSTNHTGPEDAFN-----FNNWVTLLSQLPLLLFTLLNSFLYQCVPETVRILGS-LLAILLLFALTAALVKVDMSPGP--FFSITMASVCFINSFSAVLQGSLFGQLGTMPSTYSTLFLSGQGLAGIFAALAMLLSMASGVDAETSALGYFITPCVGILMSIVCYLSLPHLKFARYYLANKSSQAQAQ---------ELETKAELLQ------------SDENGIPSSPQKVALTLDLDLEKEPESEP--------------DEPQ---KPGKPSVFTVF-------QKIWLTALCLVLVFTVTLSVFPAITAMVTSSTS-PGK-W-SQFFNPICCFLLFNIMDWLGRSLTSY-FLWPDEDSRLLPLLVCLRFLFVPLFMLCHVPQRSRL-PILFPQDAYFITFMLLFAVSNGYLVSLTMCLAPRQVLPHEREVAGALMTFFLALGLSCGASLSFLFKALL--------------------- SLC29A3 MAVVSEDDFQHSSNSTYR----TTSSSLRADQE------------------ALLEKLLDRPPPGLQRPEDRFCGTYIIFFSLGIGSLLPWNFFITAKEYWMFKL---RN-------------SSSPATGEDPEGSDILNYFESYLAVASTVPSMLCLVANFLLVNRVAVHIRVLAS-LTVILAIFMVITALVKVDTSSWTRGFFAVTIVCMVILSGASTVFSSSIYGMTGSFPMRNSQALISGGAMGGTVSAVASLVDLAASSDVRNSALAFFLTATVFLVLCMGLYLLLSRLEYARYYMR---PVLAAHVFSG-----EEELPQDSLS--------------------APSVASRFIDSH---------------------------------TPPLRPIL-------KKTASLGFCVTYVFFITSLIYPAICTNIESLNKGSGSLWTTKFFIPLTTFLLYNFADLCGRQLTAW-IQVPGPNSKALPGFVLLRTCLIPLFVLCNYQPRVHLKTVVFQSDVYPALLSSLLGLSNGYLSTLALLYGPKIVPRELAEATGVVMSFYVCLGLTLGSACSTLLVHLI--------------------- SLC29A4 MGSVGSQRLEEPSVAGTPDPGVVMSFTFDSHQLEEAAEAAQGQGLRARGVPAFTDTTLDEPV-----PDDRYHAIYFAMLLAGVGFLLPYNSFITDVDYLHHKYPGTSIV------------------------------FD--MSLTYILVALAAVLLNNVLVERLTLHTRITAGYLLALGPLLFISICDVWLQLFSRDQ-AYAINLAAVGTVAFGCTVQQSSFYGYTGMLPKRYTQGVMTGESTAGVMISLSRILTKLLLPDERASTLIFFLVSVALELLCFLLHLLVRRSRFVLFYTTR--PRDSHRGRPGLGRGYGYRVHHDVVA-GDVHFEHP-----------APALAP-------NESPKDSPAHEVTGSGGAYMRFDVPRPRVQRSWPTFRALLLHRYVVARVIWADMLSIAVTYFITLCLFPGLESEIRHCILGE---W-----LPILIMAVFNLSDFVGKILAALPVDWRGTH---LLACSCLRVVFIPLFILCVYPSGMPA----LRHPAWPCIFSLLMGISNGYFGSVPMILAAGKVSPKQRELAGNTMTVSYMSGLTLGSAVAYCTYSLTRDAHGSCLHASTANGSILAGL
Variant
| check | gene name | residue number | Reference Amino Acid / Variant Amino Acid | minor allele frequency | rs number |
|---|---|---|---|---|---|
| -- | SLC29A3 | 18 | R/G | 0.415343 | rs2277257 |
| -- | SLC29A3 | 23 | S/N | 0.000131951 | rs146423891 |
| -- | SLC29A3 | 25 | R/Q | 0.000363677 | rs138976786 |
| -- | SLC29A3 | 38 | R/H | 0.000167401 | rs201238600 |
| -- | SLC29A3 | 43 | L/R | 0.000497695 | rs146764905 |
| -- | SLC29A3 | 49 | R/P | 0.000198927 | rs201610819 |
| -- | SLC29A3 | 102 | Y/H | 0.00427537 | rs77339410 |
| -- | SLC29A3 | 109 | V/I | 0.000242601 | rs138640615 |
| -- | SLC29A3 | 112 | T/A | 0.000604465 | rs374212391 |
| -- | SLC29A3 | 113 | V/M | 0.00010739 | rs180984559 |
| -- | SLC29A3 | 140 | T/M | 0.000107368 | rs374153053 |
| -- | SLC29A3 | 158 | S/F | 0.639268 | rs780668 |
| -- | SLC29A3 | 162 | R/C | 0.000234602 | rs148381602 |
| -- | SLC29A3 | 163 | G/V | 0.00804412 | rs143557881 |
| -- | SLC29A3 | 213 | A/T | 0.000107387 | rs142645681 |
| -- | SLC29A3 | 214 | V/M | 0.000727785 | rs200339271 |
| -- | SLC29A3 | 230 | A/T | 0.00026644 | rs147701543 |
| -- | SLC29A3 | 236 | T/M | 0.000341981 | rs147552838 |
| -- | SLC29A3 | 239 | V/I | 0.81838 | rs2252996 |
| -- | SLC29A3 | 281 | L/P | 0.0105292 | rs79737301 |
| -- | SLC29A3 | 299 | R/C | 0.000250579 | rs190003480 |
| -- | SLC29A3 | 309 | G/R | 0.000147149 | rs574949543 |
| -- | SLC29A3 | 316 | F/V | 0.000779609 | rs139066012 |
| -- | SLC29A3 | 326 | I/V | 0.818798 | rs2487068 |
| -- | SLC29A3 | 331 | E/K | 0.000123367 | rs200004327 |
| -- | SLC29A3 | 334 | N/S | 0.000600918 | rs144665176 |
| -- | SLC29A3 | 378 | A/V | 0.000186914 | rs564770014 |
| -- | SLC29A3 | 383 | V/M | 0.000107379 | rs200001297 |
| -- | SLC29A3 | 401 | R/H | 0.000131263 | rs199861210 |
| -- | SLC29A3 | 466 | A/G | 0.000103467 | rs754728933 |
Phylogenetic tree
Pathway
| Priority | Gene Name | Reactome (Gene) | Reactome (Pathway) |
|---|---|---|---|
| main | SLC29A3 | SLC29A3 [lysosomal membrane] | Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane |
Disease