full name
solute carrier family 2 member 1
synonyms
DYT17, DYT18, DYT9, EIG12, GLUT, GLUT1, GLUT1DS, HTLVR, PED, SLC2A1, ENSG00000117394
HGNC
HGNC:11005
Entrez Gene
Gene:6513
ENSEMBL
ENSG00000117394
location
chr: 1
start: 43391046
stop: 43424847
strand: -
OMIM
OMIM:138140:
SLC2A1
(Autosomal dominant inheritance)
OMIM:601042:
Dystonia 9
OMIM:606777:
GLUT1 deficiency syndrome 1, infantile onset, severe
OMIM:612126:
GLUT1 deficiency syndrome 2, childhood onset
OMIM:608885:
Stomatin-deficient cryohydrocytosis with neurologic defects
OMIM:614847:
{Epilepsy, idiopathic generalized, susceptibility to, 12}
transcripts
NM_006516.2
pathways
Adipocytokine signaling pathway
[NCBI:83093]
[KEGG:hsa04920]
[PUBMED:12829246]
[PUBMED:10905472]
[PUBMED:15980064]
[PUBMED:12754525]
[PUBMED:12368907]
[PUBMED:11557972]
[PUBMED:15856064]
[PUBMED:9671776]
[PUBMED:10766253]
[PUBMED:15733744]
[PUBMED:15058305]
[PUBMED:14716305]
[PUBMED:11479627]
[PUBMED:14679176]
Bile secretion
[NCBI:193146]
[KEGG:hsa04976]
[PUBMED:11826283]
[PUBMED:19273385]
[PUBMED:12663868]
[PUBMED:15758646]
[PUBMED:18837079]
[PUBMED:15975683]
[PUBMED:17404808]
[PUBMED:18377365]
[PUBMED:16706681]
[PUBMED:10728790]
[PUBMED:14659471]
[PUBMED:18670431]
[PUBMED:12483266]
[PUBMED:19273238]
[PUBMED:18668439]
[PUBMED:18371245]
[PUBMED:14999673]
[PUBMED:11316487]
[PUBMED:18081658]
[PUBMED:19482594]
[PUBMED:20103563]
Central carbon metabolism in cancer
[NCBI:1059538]
[KEGG:hsa05230]
[PUBMED:16982728]
[PUBMED:21127244]
[PUBMED:22349059]
[PUBMED:19270154]
[PUBMED:24113830]
[PUBMED:22156302]
[PUBMED:21801601]
[PUBMED:15916903]
[PUBMED:18177721]
[PUBMED:22237205]
[PUBMED:20520704]
[PUBMED:23018234]
[PUBMED:23897900]
[PUBMED:24398961]
[PUBMED:24079832]
[PUBMED:18538731]
[PUBMED:19460998]
[PUBMED:22307140]
[PUBMED:18766298]
[PUBMED:22101401]
[PUBMED:23071355]
[PUBMED:21508971]
[PUBMED:24738035]
[PUBMED:22750268]
[PUBMED:21258394]
[PUBMED:23279446]
[PUBMED:21340684]
Facilitative Na+-independent glucose transporters
[NCBI:1269924]
[REACTOME:R-HSA-428790]
[PUBMED:18660845]
[PUBMED:12568659]
[PUBMED:11780753]
Glucagon signaling pathway
[NCBI:1144996]
[KEGG:hsa04922]
[PUBMED:20735177]
[PUBMED:19912989]
[PUBMED:21941300]
[PUBMED:22249520]
[PUBMED:12626323]
[PUBMED:16601267]
[PUBMED:18669612]
[PUBMED:24393785]
[PUBMED:21346730]
[PUBMED:22550228]
[PUBMED:16479585]
[PUBMED:24692138]
[PUBMED:22495310]
[PUBMED:22796337]
[PUBMED:22004992]
[PUBMED:24238363]
[PUBMED:22503562]
Glucose transport
[NCBI:1269921]
[REACTOME:R-HSA-70153]
[PUBMED:11780753]
HIF-1 signaling pathway
[NCBI:695200]
[KEGG:hsa04066]
[PUBMED:11902584]
[PUBMED:20965423]
[PUBMED:20679415]
[PUBMED:15031665]
[PUBMED:18259201]
[PUBMED:22205687]
[PUBMED:19364912]
[PUBMED:19147540]
[PUBMED:15448722]
[PUBMED:16234508]
[PUBMED:18505681]
[PUBMED:20836033]
[PUBMED:19861159]
[PUBMED:17955264]
[PUBMED:22562152]
HIF-1-alpha transcription factor network
[NCBI:138045]
[Pathway Interaction Database:hif1_tfpathway]
[PUBMED:11707426]
[PUBMED:9242677]
[PUBMED:9038135]
[PUBMED:15310764]
[PUBMED:11278891]
[PUBMED:8816435]
[PUBMED:8663540]
[PUBMED:15235127]
[PUBMED:12042299]
[PUBMED:15312748]
[PUBMED:14612449]
[PUBMED:11342587]
[PUBMED:12615703]
[PUBMED:9632793]
[PUBMED:12228247]
[PUBMED:15044468]
[PUBMED:8408001]
[PUBMED:9822602]
[PUBMED:15252039]
[PUBMED:13679920]
[PUBMED:11877282]
[PUBMED:15235597]
[PUBMED:15199161]
[PUBMED:15104534]
[PUBMED:10594042]
[PUBMED:12354771]
[PUBMED:10446188]
[PUBMED:9436976]
[PUBMED:11823643]
[PUBMED:12370277]
[PUBMED:8955077]
[PUBMED:12879018]
[PUBMED:14645546]
[PUBMED:9486205]
[PUBMED:9887100]
[PUBMED:8089148]
[PUBMED:15466858]
[PUBMED:11708773]
[PUBMED:15611046]
[PUBMED:14742449]
[PUBMED:15280364]
[PUBMED:12215445]
[PUBMED:15611089]
[PUBMED:10777486]
[PUBMED:9707622]
[PUBMED:8917528]
[PUBMED:15563275]
[PUBMED:12067980]
[PUBMED:10353251]
HIF-2-alpha transcription factor network
[NCBI:137956]
[Pathway Interaction Database:hif2pathway]
[PUBMED:10671489]
[PUBMED:11983697]
[PUBMED:11823643]
[PUBMED:15039136]
[PUBMED:19352007]
[PUBMED:18356544]
[PUBMED:17097563]
[PUBMED:16740701]
[PUBMED:19541651]
[PUBMED:17873906]
[PUBMED:12080085]
[PUBMED:11292862]
[PUBMED:16510872]
[PUBMED:19498162]
[PUBMED:10353251]
[PUBMED:18625704]
[PUBMED:15247232]
[PUBMED:9079689]
[PUBMED:19204094]
[PUBMED:17322295]
[PUBMED:17804822]
[PUBMED:9113979]
[PUBMED:12464608]
[PUBMED:18434321]
[PUBMED:15592504]
[PUBMED:10878807]
[PUBMED:17324924]
[PUBMED:15192019]
[PUBMED:9000051]
[PUBMED:16611993]
[PUBMED:10823831]
HTLV-I infection
[NCBI:373901]
[KEGG:hsa05166]
[PUBMED:17446673]
[PUBMED:16436385]
[PUBMED:14686485]
[PUBMED:19861996]
[PUBMED:19092975]
[PUBMED:11325603]
[PUBMED:16155602]
[PUBMED:12910251]
[PUBMED:16155605]
[PUBMED:16036567]
[PUBMED:11244044]
[PUBMED:18702816]
[PUBMED:15569630]
[PUBMED:21114861]
[PUBMED:16155611]
[PUBMED:17384582]
[PUBMED:16155608]
[PUBMED:10602469]
[PUBMED:19014483]
[PUBMED:9325311]
Hexose transport
[NCBI:1269920]
[REACTOME:R-HSA-189200]
[PUBMED:16186415]
[PUBMED:15546855]
Insulin resistance
[NCBI:1272486]
[KEGG:hsa04931]
[PUBMED:17130651]
[PUBMED:20466550]
[PUBMED:16364488]
[PUBMED:12765939]
[PUBMED:15166380]
[PUBMED:7666792]
[PUBMED:16756496]
[PUBMED:23647930]
[PUBMED:10923637]
[PUBMED:17141630]
[PUBMED:9886945]
[PUBMED:8048519]
[PUBMED:18309108]
[PUBMED:15107844]
[PUBMED:20526383]
[PUBMED:22360800]
[PUBMED:16186396]
[PUBMED:22675355]
[PUBMED:22677645]
Insulin secretion
[NCBI:777534]
[KEGG:hsa04911]
[PUBMED:9715374]
[PUBMED:10605628]
[PUBMED:9914469]
[PUBMED:17306374]
[PUBMED:20055708]
[PUBMED:15655710]
[PUBMED:19817784]
[PUBMED:19074620]
[PUBMED:14693691]
[PUBMED:17084085]
[PUBMED:20551594]
[PUBMED:19036624]
[PUBMED:22970724]
[PUBMED:20225132]
[PUBMED:19817800]
[PUBMED:22974438]
[PUBMED:21934040]
[PUBMED:15271645]
[PUBMED:19660440]
[PUBMED:11522660]
Integration of energy metabolism
[NCBI:1270101]
[REACTOME:R-HSA-163685]
[PUBMED:15509864]
[PUBMED:12721358]
[PUBMED:12626323]
Lactose synthesis
[NCBI:1269968]
[REACTOME:R-HSA-5653890]
[PUBMED:806951]
Metabolism
[NCBI:1269956]
[REACTOME:R-HSA-1430728]
Metabolism of carbohydrates
[NCBI:1269957]
[REACTOME:R-HSA-71387]
Metabolism of vitamins and cofactors
[NCBI:1270144]
[REACTOME:R-HSA-196854]
Metabolism of water-soluble vitamins and cofactors
[NCBI:1270145]
[REACTOME:R-HSA-196849]
Pathways in cancer
[NCBI:83105]
[KEGG:hsa05200]
[PUBMED:12244301]
[PUBMED:15156182]
[PUBMED:16899407]
[PUBMED:12621137]
[PUBMED:21193867]
[PUBMED:16001072]
[PUBMED:11707511]
[PUBMED:11253051]
[PUBMED:11071626]
[PUBMED:17251915]
[PUBMED:11736900]
[PUBMED:16557281]
[PUBMED:16699851]
[PUBMED:16189702]
[PUBMED:11902573]
[PUBMED:16555243]
[PUBMED:8069858]
[PUBMED:15310786]
[PUBMED:9834202]
[PUBMED:16700615]
[PUBMED:12545153]
[PUBMED:15656799]
[PUBMED:12154354]
[PUBMED:11895903]
[PUBMED:11527574]
[PUBMED:16326109]
[PUBMED:16339096]
[PUBMED:11160144]
[PUBMED:15724144]
[PUBMED:12951584]
[PUBMED:10647931]
[PUBMED:16881963]
[PUBMED:15557758]
[PUBMED:11477132]
[PUBMED:15721476]
[PUBMED:15625120]
[PUBMED:16236521]
[PUBMED:14967450]
[PUBMED:15942304]
[PUBMED:17287871]
[PUBMED:14634372]
[PUBMED:15573119]
[PUBMED:15009714]
[PUBMED:16112428]
[PUBMED:15611513]
[PUBMED:16001050]
[PUBMED:15349822]
[PUBMED:16551846]
[PUBMED:15978322]
[PUBMED:15774796]
[PUBMED:16352814]
[PUBMED:12951588]
[PUBMED:10944551]
[PUBMED:10740269]
[PUBMED:15639402]
[PUBMED:12407699]
[PUBMED:11130178]
[PUBMED:15109562]
[PUBMED:11170304]
[PUBMED:11276000]
[PUBMED:9643506]
[PUBMED:16248975]
[PUBMED:16242838]
[PUBMED:12946833]
[PUBMED:11559746]
[PUBMED:9196022]
[PUBMED:12079267]
[PUBMED:15468170]
[PUBMED:16064138]
[PUBMED:14580692]
[PUBMED:15082523]
[PUBMED:15551095]
[PUBMED:17062879]
[PUBMED:17211469]
[PUBMED:11720739]
[PUBMED:12588368]
[PUBMED:11057895]
[PUBMED:9422516]
[PUBMED:12894244]
[PUBMED:15479695]
[PUBMED:16189154]
[PUBMED:12878745]
[PUBMED:11900250]
[PUBMED:11103787]
[PUBMED:15122209]
[PUBMED:12711111]
[PUBMED:12243753]
[PUBMED:16306523]
[PUBMED:16702400]
[PUBMED:15270885]
[PUBMED:14685170]
[PUBMED:14586404]
[PUBMED:11078609]
[PUBMED:15284264]
[PUBMED:10505543]
[PUBMED:11223406]
[PUBMED:14982876]
[PUBMED:12648469]
[PUBMED:12867060]
[PUBMED:15711891]
[PUBMED:12094241]
[PUBMED:16642045]
[PUBMED:11463388]
[PUBMED:12762887]
[PUBMED:15746962]
[PUBMED:15823750]
[PUBMED:16750612]
[PUBMED:16484590]
[PUBMED:11459867]
[PUBMED:16146838]
[PUBMED:14556242]
[PUBMED:15947972]
[PUBMED:12563308]
[PUBMED:16946003]
[PUBMED:15948971]
[PUBMED:11407945]
[PUBMED:12737309]
[PUBMED:16095998]
[PUBMED:12351585]
[PUBMED:24508914]
[PUBMED:12084351]
[PUBMED:11807782]
[PUBMED:14695152]
[PUBMED:10453277]
[PUBMED:17554387]
[PUBMED:15841168]
[PUBMED:12616528]
[PUBMED:10403855]
[PUBMED:16054233]
[PUBMED:16474624]
[PUBMED:16822996]
[PUBMED:17028294]
[PUBMED:11224709]
[PUBMED:11750244]
[PUBMED:11905738]
[PUBMED:15719031]
[PUBMED:10843728]
[PUBMED:16110317]
[PUBMED:11721960]
[PUBMED:12741677]
[PUBMED:7585656]
[PUBMED:12801837]
[PUBMED:16551847]
[PUBMED:12459728]
[PUBMED:11431710]
[PUBMED:12468433]
[PUBMED:11165748]
[PUBMED:16042571]
[PUBMED:16508724]
[PUBMED:15000146]
[PUBMED:17149381]
[PUBMED:15948711]
[PUBMED:14747944]
[PUBMED:14737121]
[PUBMED:12379883]
[PUBMED:17158541]
[PUBMED:12850530]
[PUBMED:10835690]
[PUBMED:16870043]
Regulation of insulin secretion
[NCBI:1270102]
[REACTOME:R-HSA-422356]
[PUBMED:18200017]
[PUBMED:11078440]
[PUBMED:16321791]
[PUBMED:11815463]
[PUBMED:16556766]
Renal cell carcinoma
[NCBI:83107]
[KEGG:hsa05211]
[PUBMED:12351585]
[PUBMED:17211469]
[PUBMED:16339096]
[PUBMED:17287871]
[PUBMED:14634372]
[PUBMED:15611513]
[PUBMED:14685170]
[PUBMED:15122209]
SLC-mediated transmembrane transport
[NCBI:1269907]
[REACTOME:R-HSA-425407]
[PUBMED:14624363]
[PUBMED:19164095]
Thyroid hormone signaling pathway
[NCBI:946598]
[KEGG:hsa04919]
[PUBMED:20005976]
[PUBMED:17983645]
[PUBMED:15345678]
[PUBMED:16951130]
[PUBMED:16214361]
[PUBMED:18329679]
[PUBMED:20051527]
[PUBMED:17574003]
[PUBMED:19716314]
[PUBMED:19755667]
[PUBMED:20868274]
[PUBMED:21835053]
[PUBMED:16051672]
[PUBMED:19295177]
[PUBMED:23021374]
[PUBMED:22484490]
Transmembrane transport of small molecules
[NCBI:1269903]
[REACTOME:R-HSA-382551]
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
[NCBI:1269923]
[REACTOME:R-HSA-425366]
[PUBMED:12811562]
[PUBMED:12748858]
[PUBMED:12750891]
[PUBMED:19164095]
Validated targets of C-MYC transcriptional activation
[NCBI:169351]
[Pathway Interaction Database:myc_activpathway]
[PUBMED:18987359]
[PUBMED:16537449]
[PUBMED:9924025]
[PUBMED:17643117]
[PUBMED:8356088]
[PUBMED:10688915]
[PUBMED:1562593]
[PUBMED:19020761]
[PUBMED:10823814]
[PUBMED:12637527]
[PUBMED:9178906]
[PUBMED:17967894]
[PUBMED:15723053]
[PUBMED:16508012]
[PUBMED:8700224]
[PUBMED:12091391]
[PUBMED:20173740]
[PUBMED:11522645]
[PUBMED:15774466]
[PUBMED:12776737]
[PUBMED:12011429]
[PUBMED:12138190]
[PUBMED:10022128]
[PUBMED:11511539]
[PUBMED:12177005]
[PUBMED:17599065]
[PUBMED:6438521]
[PUBMED:19745813]
[PUBMED:8196628]
[PUBMED:10891489]
[PUBMED:8934531]
[PUBMED:15723054]
[PUBMED:9192621]
[PUBMED:18042711]
[PUBMED:10779353]
[PUBMED:1989881]
[PUBMED:8861962]
[PUBMED:12529648]
[PUBMED:16269333]
[PUBMED:16172399]
[PUBMED:8494784]
[PUBMED:15282543]
[PUBMED:8297793]
[PUBMED:12776177]
[PUBMED:9811896]
[PUBMED:11103792]
[PUBMED:17170079]
[PUBMED:18593934]
[PUBMED:11673469]
[PUBMED:18408012]
[PUBMED:1340466]
[PUBMED:17088530]
[PUBMED:8327497]
[PUBMED:16423995]
[PUBMED:12816956]
[PUBMED:11598121]
[PUBMED:14724288]
[PUBMED:17848523]
[PUBMED:10508165]
[PUBMED:12695333]
[PUBMED:17822678]
[PUBMED:10606642]
[PUBMED:9869632]
[PUBMED:9212167]
[PUBMED:19211792]
[PUBMED:16287840]
[PUBMED:18978814]
[PUBMED:11511535]
[PUBMED:15944709]
[PUBMED:11604407]
[PUBMED:11909865]
Vitamin C (ascorbate) metabolism
[NCBI:1270146]
[REACTOME:R-HSA-196836]
[PUBMED:17222174]