Detail Data SLC2A1

Basic description

Gene Name	SLC2A1
Protein Name	Solute carrier family 2, facilitated glucose transporter member 1 (Glucose transporter type 1, erythrocyte/brain) (GLUT-1) (HepG2 glucose transporter)
Family	SLC2
Category	Cellular hexose transport
Reaction name	-
Reaction	-

Network

Structure

Sequence

[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        480        490 
MEPSSKKLTG RLMLAVGGAV LGSLQFGYNT GVINAPQKVI EEFYNQTWVH RYGESILPTT LTTLWSLSVA IFSVGGMIGS FSVGLFVNRF GRRNSMLMMN LLAFVSAVLM GFSKLGKSFE MLILGRFIIG VYCGLTTGFV PMYVGEVSPT ALRGALGTLH QLGIVVGILI AQVFGLDSIM GNKDLWPLLL SIIFIPALLQ CIVLPFCPES PRFLLINRNE ENRAKSVLKK LRGTADVTHD LQEMKEESRQ MMREKKVTIL ELFRSPAYRQ PILIAVVLQL SQQLSGINAV FYYSTSIFEK AGVQQPVYAT IGSGIVNTAF TVVSLFVVER AGRRTLHLIG LAGMAGCAIL MTIALALLEQ LPWMSYLSIV AIFGFVAFFE VGPGPIPWFI VAELFSQGPR PAAIAVAGFS NWTSNFIVGM CFQYVEQLCG PYVFIIFTVL LVLFFIFTYF KVPETKGRTF DEIASGFRQG GASQSDKTPE ELFHPLGADS QV 
CCCCCCCCCH HHHHHHHHHH HHHHHHCCCE EEECCHHHHH HHHHCCCHHH HCCCCCCHHC HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH CHHHHHHHHH HHHHHHHHHH HHCCCCCCHH HHHHHHHHHH HHHHHHHHHH HHHHHHCCCH HHHHHHHHHH HHHHHHHHHH HHHHCHHHHC CCCCCHHHHH HHHHHHHHHH HHHHHHCCCC HHHHHHHCCC HHHHHHHHHH HHCCCCHHHH HHHHHHHHHH HHCCCCCCHH HHHCCCCHHH HHHHHHHHHH HHHHHCCCHH HHCCHHHHHH CCCCHHHHHH HHHHHHHHHH HHHHHHHHHH CCHHHHHHHH HHHHHHHHHH HHHHHHHHCC CCCHHHHHHH HHHHHHHHHH CCCCCCHHHH HHHHCCCCCH HHHHHHHHHH HHHHHHHHHH HHHHHHHHCC CHHHHHHHHH HHHHHHHHHH HCCCCCCCCH HHHHHHHHCC CCCCCCCCCH HHCCCCCCCC CC

Family alignment

[Overview]

SLC2A1    -------------------------------------------------------------------------------MEPSSKKLTGRLMLAVGG-AVLGS-LQFGYNTGVINAPQKVI--------------EEFYNQTWVHRYG----ESILPTT----------------------LTTLW-SLSVAIFSVGGMIGSFSVGLFVNRFGRRNSMLMMNLLAFVSAVLMGFSKLGKSFEMLILGRFIIGVYCGLTTGFVPMYVGEVSPTALRGALGTLHQLGIVVGILIAQVFGLDSIMGNKDLWPLLLSIIFIPALLQCIVLPFCPES-------PRFLLINRNEENRAKSV-LKKLRGTA-DVTHDLQEMK-----EESRQMMREKKVTILELFRSP-AYRQPILIAVVLQLSQQLSGINAVFYYSTSIFEKAGV-----QQPVYATIGSGIVNTAFTVVSLFVVERAGRRTLHLIGLAGMAGCAILMT-IALALLEQLP--------------------------------------------------------------------------------------------------------------------------WMSYLSIVAIFGFVAFFEVGPGPIPWFIVAELFSQGPRPAAIAVAGFSNWTSNFIVGMCFQYVEQLCGPY----VFIIFTVLLVLFFIFTYFKVPETKGRTFDEIASGF---RQGGAS-------------------QSDKTPEELF-----HPLGADSQV---------
SLC2A10   ----------------------------------MGHSPPVLPL-----CASVS-------------------------------------LL--------GG-LTFGYELAVISGALLPLQLDF-------------------------------------------------------GLSCLEQEFLVGSLLLGALLASLVGGFLIDCYGRKQAILGSNLVLLAGSLTLG---LAGSLAWLVLGRAVVGFAISLSSMACCIYVSELVGPRQRGVLVSLYEAGITVGILLSYALNYAL-AGTPWGWRHMFGWATAPAVLQSLSLLFLPAGTDETATHKDLI-PLQG--GEAPKLGPGRPR------------------------------YSFLDLFRARDNMRGRTTVGLGLVLFQQLTGQPNVLCYASTIFSSVGF--HGGSSAVLASVGLGAVKVAATLTAMGLVDRAGRRALLLAGCALMALSVSGIGLVSFAVPMD---------------------SGPSCLAVPNATGQTGL---------PGDSGLLQDSSLPPIPRTNEDQR-----EPILSTAKKTKPHPRSGDPSAP-------PRLALSSALPGPPLPARGHALLRWTALLCLMVFVSAFSFGFGPVTWLVLSEIYPVEIRGRAFAFCNSFNWAANLFISLSFLDLIGTIGLSW---TFLLYGLTAVLGLGFIYLFVPETKGQSLAEIDQQFQ-KRRFTLS----FGHRQNS-------------------------TGIPYSRIEISAAS--
SLC2A11   --MEDELEPS---------------------------------------------------------------------LRPRTQIQGRILLLTICA-AGIGGTFQFGYNLSIINAPTLHI--------------QEFTNETWQARTG--------------------------EPLPDHLVLLMW-SLIVSLYPLGGLFGALLAGPLAITLGRKKSLLVNNIFVVSAAILFGFSRKAGSFEMIMLGRLLVGVNAGVSMNIQPMYLGESAPKELRGAVAMSSAIFTALGIVMGQVVGLRELLGGPQAWPLLLASCLVPGALQLASLPLLPES-------PRYLLIDCGDTEACLAA-LRRLRGSG-DLAGELEELE-----EERAACQGCRARRPWELFQHR-ALRRQVTSLVVLGSAMELCGNDSVYAYASSVFRKAGV--P-EAKIQYAIIGTGSCELLTAVVSCVVIERVGRRVLLIGGYSLMTCWGSIFT-VALCLQSSFP--------------------------------------------------------------------------------------------------------------------------WTLYLAMACIFAFILSFGIGPAGVTGILATELFDQMARPAACMVCGALMWIMLILVGLGFPFIMEALSHF----LYVPFLGVCVCGAIYTGLFLPETKGKTFQEISKELH-RLN-----------------------------------FPRRAQGPTWRSLEVIQSTEL
SLC2A12   --MVPVENTEGP-------SLLNQKGTAVETEGSGSRHPPWARG-----CGMFT-------------------------------------FLSSVT-AAVSG-LLVGYELGIISGALLQIKTLL-------------------------------------------------------ALSCHEQEMVVSSLVIGALLASLTGGVLIDRYGRRTAIILSSCLLGLGSLVLI---LSLSYTVLIVGRIAIGVSISLSSIATCVYIAEIAPQHRRGLLVSLNELMIVIGILSAYISNYAF-ANVFHGWKYMFGLVIPLGVLQAIAMYFLPPS-------PRFL-VMKGQEGAASKV-LGRLRALS-DTTEELTVIK--------SSLKDEYQYSFWDLFRSKDNMRTRIMIGLTLVFFVQITGQPNILFYASTVLKSVGF--QSNEAASLASTGVGVVKVISTIPATLLVDHVGSKTFLCIGSSVMAASLVTMGIVNLNIHMNFT-HICRSHNSINQSLDESVIYGPGNLSTNNNTLRDHF---------KGISS-HSRSSLMPL-RNDVDKRGETTSASLLNAGLSHTEYQIVTDPGDV-------P------------------AFLKWLSLASLLVYVAAFSIGLGPMPWLVLSEIFPGGIRGRAMALTSSMNWGINLLISLTFLTVTDLIGLPW---VCFIYTIMSLASLLFVVMFIPETKGCSLEQISMELA-KVNYVKNNICFMSHHQEELVPKQPQKRKPQEQLLEC----NKLCGRGQSR-QLSPET--
SLC2A13   --MSRKASENVEYTLRSLSSLMG------ER---RRKQPEPDAASAAGECSLLAAAESSTSLQSAGAGGGGVGDLERAARRQFQQDETPAFVYVVAVFSALGG-FLFGYDTGVVSGAMLLL-------------KRQL------------------------------------------SLDALWQELLVSSTVGAAAVSALAGGALNGVFGRRAAILLASALFTAGSAVLA---AANNKETLLAGRLVVGLGIGIASMTVPVYIAEVSPPNLRGRLVTINTLFITGGQFFASVVDGAFSYLQKDGWRYMLGLAAVPAVIQFFGFLFLPES-------PRWL-IQKGQTQKARRI-LSQMRGNQ-TIDEEYDSIKNN--IEEEEKEVGSAGPVICRMLSYP-PTRRALIVGCGLQMFQQLSGINTIMYYSATILQMSGV--EDDRLAIWLASVTAFTNFIFTLVGVWLVEKVGRRKLTFGSLAGTTVALIILA-LGFVLSAQVSPRI---------TFKPIAPSGQNATCTRYSYCNECMLDPDCGFCYKMNKSTVIDSSCVPV-----------NKASTNEAAWGRCENETKFKTEDIFWAYNFCP------------------TPYSWTALLGLILYLVFFAPGMGPMPWTVNSEIYPLWARSTGNACSSGINWIFNVLVSLTFLHTAEYLTYYG---AFFLYAGFAAVGLLFIYGCLPETKGKKLEEIESLFD-NRLCTCG-------------------TSDSDEGRYIEYI--RVKGSNYHLSDNDASDVE
SLC2A14   --MEFHNGGHVSGIGGFLVSLTS------R-------------------------------------------------MKPHTLAVTPALIFAITV-ATIGS-FQFGYNTGVINAPETII--------------KEFINKTLTDK------ANAPPSEV--------------------LLTNLW-SLSVAIFSVGGMIGSFSVGLFVNRFGRRNSMLIVNLLAATGGCLMGLCKIAESVEMLILGRLVIGLFCGLCTGFVPMYIGEISPTALRGAFGTLNQLGIVIGILVAQIFGLELILGSEELWPVLLGFTILPAILQSAALPCCPES-------PRFLLINRKKEENATRI-LQRLWGTQ-DVSQDIQEMK-----DESARMSQEKQVTVLELFRVS-SYRQPIIISIVLQLSQQLSGINAVFYYSTGIFKDAGV-----QQPIYATISAGVVNTIFTLLSLFLVERAGRRTLHMIGLGGMAFCSTLMT-VSLLLKNHYN--------------------------------------------------------------------------------------------------------------------------GMSFVCIGAILVFVACFEIGPGPIPWFIVAELFSQGPRPAAMAVAGCSNWTSNFLVGLLFPSAAYYLGAY----VFIIFTGFLITFLAFTFFKVPETRGRTFEDITRAFE-GQAHGAD-------------------RSGKDGVMGM-----NSIEPAKETTTNV-----
SLC2A2    ---------------------------------------------------------------------------------MTEDKVTGTLVFTVIT-AVLGS-FQFGYDIGVINAPQQVIISHYRHVLGVPLDDRKAINNYVINS------TDELPTISYSMNPKPTPWAEEETVAAAQLITMLW-SLSVSSFAVGGMTASFFGGWLGDTLGRIKAMLVANILSLVGALLMGFSKLGPSHILIIAGRSISGLYCGLISGLVPMYIGEIAPTALRGALGTFHQLAIVTGILISQIIGLEFILGNYDLWHILLGLSGVRAILQSLLLFFCPES-------PRYLYIKLDEEVKAKQS-LKRLRGYD-DVTKDINEMR-----KEREEASSEQKVSIIQLFTNS-SYRQPILVALMLHVAQQFSGINGIFYYSTSIFQTAGI-----SKPVYATIGVGAVNMVFTAVSVFLVEKAGRRSLFLIGMSGMFVCAIFMS-VGLVLLNKFS--------------------------------------------------------------------------------------------------------------------------WMSYVSMIAIFLFVSFFEIGPGPIPWFMVAEFFSQGPRPAALAIAAFSNWTCNFIVALCFQYIADFCGPY----VFFLFAGVLLAFTLFTFFKVPETKGKSFEEIAAEFQ-KKSGSAH-------------------RP--KAAVEM-----KFLGATETV---------
SLC2A3    -------------MG--------------------------------------------------------------------TQKVTPALIFAITV-ATIGS-FQFGYNTGVINAPEKII--------------KEFINKTLTDK------GNAPPSEV--------------------LLTSLW-SLSVAIFSVGGMIGSFSVGLFVNRFGRRNSMLIVNLLAVTGGCFMGLCKVAKSVEMLILGRLVIGLFCGLCTGFVPMYIGEISPTALRGAFGTLNQLGIVVGILVAQIFGLEFILGSEELWPLLLGFTILPAILQSAALPFCPES-------PRFLLINRKEEENAKQI-LQRLWGTQ-DVSQDIQEMK-----DESARMSQEKQVTVLELFRVS-SYRQPIIISIVLQLSQQLSGINAVFYYSTGIFKDAGV-----QEPIYATIGAGVVNTIFTVVSLFLVERAGRRTLHMIGLGGMAFCSTLMT-VSLLLKDNYN--------------------------------------------------------------------------------------------------------------------------GMSFVCIGAILVFVAFFEIGPGPIPWFIVAELFSQGPRPAAMAVAGCSNWTSNFLVGLLFPSAAHYLGAY----VFIIFTGFLITFLAFTFFKVPETRGRTFEDITRAFE-GQAHGAD-------------------RSGKDGVMEM-----NSIEPAKETTTNV-----
SLC2A4    MPSGFQQ------IG------SE------D-------------------------------------------------GEPPQQRVTGTLVLAVFS-AVLGS-LQFGYNIGVINAPQKVI--------------EQSYNETWLGRQGPEGPSSIPPGT----------------------LTTLW-ALSVAIFSVGGMISSFLIGIISQWLGRKRAMLVNNVLAVLGGSLMGLANAAASYEMLILGRFLIGAYSGLTSGLVPMYVGEIAPTHLRGALGTLNQLAIVIGILIAQVLGLESLLGTASLWPLLLGLTVLPALLQLVLLPFCPES-------PRYLYIIQNLEGPARKS-LKRLTGWA-DVSGVLAELK-----DEKRKLERERPLSLLQLLGSR-THRQPLIIAVVLQLSQQLSGINAVFYYSTSIFETAGV-----GQPAYATIGAGVVNTVFTLVSVLLVERAGRRTLHLLGLAGMCGCAILMT-VALLLLERVP--------------------------------------------------------------------------------------------------------------------------AMSYVSIVAIFGFVAFFEIGPGPIPWFIVAELFSQGPRPAAMAVAGFSNWTSNFIIGMGFQYVAEAMGPY----VFLLFAVLLLGFFIFTFLRVPETRGRTFDQISAAFH--RTPSLL-------------------EQEVKPSTEL-----EYLGPDEND---------
SLC2A5    --MEQQDQSM------------------------------------------------------------------------KEGRLTLVLALATLI-AAFGSSFQYGYNVAAVNSPALLM--------------QQFYNETYYGRTG--------------------------EFMEDFPLTLLW-SVTVSMFPFGGFIGSLLVGPLVNKFGRKGALLFNNIFSIVPAILMGCSRVATSFELIIISRLLVGICAGVSSNVVPMYLGELAPKNLRGALGVVPQLFITVGILVAQIFGLRNLLANVDGWPILLGLTGVPAALQLLLLPFFPES-------PRYLLIQKKDEAAAKKA-LQTLRGWD-SVDREVAEIR-----QEDEAEKAAGFISVLKLFRMR-SLRWQLLSIIVLMGGQQLSGVNAIYYYADQIYLSAGV--P-EEHVQYVTAGTGAVNVVMTFCAVFVVELLGRRLLLLLGFSICLIACCVLT-AALALQDTVS--------------------------------------------------------------------------------------------------------------------------WMPYISIVCVISYVIGHALGPSPIPALLITEIFLQSSRPSAFMVGGSVHWLSNFTVGLIFPFIQEGLGPY----SFIVFAVICLLTTIYIFLIVPETKAKTFIEINQIFT-KMNKVSE-------------------VYPEKEELKE--------LPPVTSEQ-------
SLC2A6    ---------MQE-------PLLGAEGPDYDT---FPEKPPPSPG----------------------------------DRARVGTLQNKRVFLATFA-AVLGN-FSFGYALVYTSPVIPAL-------------ERSLDPDLHLTKSQA--------------------------------------SWFGSVFTLGAAAGGLSAMILNDLLGRKLSIMFSAVPSAAGYALMA---GAHGLWMLLLGRTLTGFAGGLTAACIPVYVSEIAPPGVRGALGATPQLMAVFGSLSLYALGLLL------PWRWLAVAGEAPVLIMILLLSFMPNS-------PRFL-LSRGRDEEALRA-LAWLRGTDVDVHWEFEQIQDNVRRQSSRVS--------WAEARAP-HVCRPITVALLMRLLQQLTGITPILVYLQSIFDSTAVLLP-PKDD---AAIVGAVRLLSVLIAALTMDLAGRKVLLFVSAAIMFAANLTLG-LYIHF---GP-----------------RPLSPNSTAGLESE--------SWG-----------------------------DLAQPLAAPAG----------------------------------------YLTLVPLLATMLFIMGYAVGWGPITWLLMSEVLPLRARGVASGLCVLASWLTAFVLTKSF---LPVVSTFGLQVPFFFFAAICLVSLVFTGCCVPETKGRSLEQIESFFRTGRRSFLR----------------------------------------------------
SLC2A7    --MENKEAGTP---------------------------P-PIP--------------------------------------SREGRLQPTLLLATLS-AAFGSAFQYGYNLSVVNTPHKVF--------------KSFYNETYFERHA--------------------------TFMDGKLMLLLW-SCTVSMFPLGGLLGSLLVGLLVDSCGRKGTLLINNIFAIIPAILMGVSKVAKAFELIVFSRVVLGVCAGISYSALPMYLGELAPKNLRGMVGTMTEVFVIVGVFLAQIFSLQAILGNPAGWPVLLALTGVPALLQLLTLPFFPES-------PRYSLIQKGDEATARQA-LRRLRGHT-DMEAELEDMR-----AEARAERAEGHLSVLHLCALR-SLRWQLLSIIVLMAGQQLSGINAINYYADTIYTSAGV--E-AAHSQYVTVGSGVVNIVMTITSAVLVERLGRRHLLLAGYGICGSACLVLT-VVLLFQNRVP--------------------------------------------------------------------------------------------------------------------------ELSYLGIICVFAYIAGHSIGPSPVPSVVRTEIFLQSSRRAAFMVDGAVHWLTNFIIGFLFPSIQEAIGAY----SFIIFAGICLLTAIYIYVVIPETKGKTFVEINRIFA-KRNRVKL-------------------PEEKEETIDA--------GPPTASPAKETSF--
SLC2A8    --MTPEDPEETQ-------PLLG---------------PPGGSA----------------------------------PRGR-------RVFLAAFA-AALGP-LSFGFALGYSSPAIPSL-------------QRAAPPAPRLDDAAA--------------------------------------SWFGAVVTLGAAAGGVLGGWLVDRAGRKLSLLLCSVPFVAGFAVIT---AAQDVWMLLGGRLLTGLACGVASLVAPVYISEIAYPAVRGLLGSCVQLMVVVGILLAYLAGWVL------EWRWLAVLGCVPPSLMLLLMCFMPET-------PRFL-LTQHRRQEAMAA-LRFLWGSEQG--WE-----DPPIGAEQSFH--------LALLRQP-GIYKPFIIGVSLMAFQQLSGVNAVMFYAETIFEEAKF-----KDSSLASVVVGVIQVLFTAVAALIMDRAGRRLLLVLSGVVMVFSTSAFG-AYFKLTQGGP-----------------GNSSHVAISAPVS-------------------------------------------AQPVDASVG-----------------------------------------LAWLAVGSMCLFIAGFAVGWGPIPWLLMSEIFPLHVKGVATGICVLTNWLMAFLVTKEFSSLMEVLRPYG---AFWLASAFCIFSVLFTLFCVPETKGKTLEQITAHFE-GR---------------------------------------------------------
SLC2A9    --MARKQNRNSKELG--LVPLTD------DT---SHAGP-PGPGRALLECDHLRS---------------GV------PGGRRRKDWSCSLLVASLA-GAFGSSFLYGYNLSVVNAPTPYI--------------KAFYNESWERRHG--------------------------RPIDPDTLTLLW-SVTVSIFAIGGLVGTLIVKMIGKVLGRKHTLLANNGFAISAALLMACSLQAGAFEMLIVGRFIMGIDGGVALSVLPMYLSEISPKEIRGSLGQVTAIFICIGVFTGQLLGLPELLGKESTWPYLFGVIVVPAVVQLLSLPFLPDS-------PRYLLLEKHNEARAVKA-FQTFLGKA-DVSQEVEEVL-----AESRVQRSIRLVSVLELLRAP-YVRWQVVTVIVTMACYQLCGLNAIWFYTNSIFGKAGI--P-PAKIPYVTLSTGGIETLAAVFSGLVIEHLGRRPLLIGGFGLMGLFFGTLT-ITLTLQDHAP--------------------------------------------------------------------------------------------------------------------------WVPYLSIVGILAIIASFCSGPGGIPFILTGEFFQQSQRPAAFIIAGTVNWLSNFAVGLLFPFIQKSLDTY----CFLVFATICITGAIYLYFVLPETKNRTYAEISQAFS-KRNKA----------------------YPPEEKIDSAVTDGKINGRP------------

Variant

check	gene name	residue number	Reference Amino Acid / Variant Amino Acid	minor allele frequency	rs number
	SLC2A1	46	Q/H	0.000246953	rs149998596
	SLC2A1	104	F/L	0.000232471	rs76672402
--	SLC2A1	235	L/Q	0.000199606	rs202140308
--	SLC2A1	238	P/T	0.000442827	rs187701356
	SLC2A1	255	K/T	0.000107483	rs5811
	SLC2A1	269	R/C	0.0002154	rs200247956
	SLC2A1	299	E/K	0.000212687	rs148518827
	SLC2A1	339	I/T	0.000514116	rs141619735

Phylogenetic tree

Pathway

Priority	Gene Name	Reactome (Gene)	Reactome (Pathway)
main	SLC2A1	SLC2A1 [plasma membrane]	Cellular hexose transport
	SLC2A1	SLC2A1 [plasma membrane]	Vitamin C (ascorbate) metabolism
	SLC2A1	SLC2A1 [plasma membrane]	Regulation of insulin secretion
	SLC2A1	SLC2A1 [Golgi membrane]	Lactose synthesis

Disease

Gene Name	Reactome (Gene)	Reactome (Pathway)
SLC2A1	SLC2A1 R223P [plasma membrane]	Defective SLC2A1 causes GLUT1 deficiency syndrome 1 (GLUT1DS1)
SLC2A1	SLC2A1 K456* [plasma membrane]	Defective SLC2A1 causes GLUT1 deficiency syndrome 1 (GLUT1DS1)
SLC2A1	SLC2A1 Y449* [plasma membrane]	Defective SLC2A1 causes GLUT1 deficiency syndrome 1 (GLUT1DS1)
SLC2A1	SLC2A1 R126L [plasma membrane]	Defective SLC2A1 causes GLUT1 deficiency syndrome 1 (GLUT1DS1)
SLC2A1	SLC2A1 K256V [plasma membrane]	Defective SLC2A1 causes GLUT1 deficiency syndrome 1 (GLUT1DS1)
SLC2A1	SLC2A1 S342L [plasma membrane]	Defective SLC2A1 causes GLUT1 deficiency syndrome 1 (GLUT1DS1)