AutismKB 2.0

Annotation Detail for SLC2A1


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Basic Information Top
Gene Symbol:SLC2A1 ( DYT17,DYT18,GLUT,GLUT1,GLUT1DS,MGC141895,MGC141896,PED )
Gene Full Name: solute carrier family 2 (facilitated glucose transporter), member 1
Band: 1p34.2
Quick LinksEntrez ID:6513; OMIM: 138140; Uniprot ID:GTR1_HUMAN; ENSEMBL ID: ENSG00000117394; HGNC ID: 11005
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
45N-linked (GlcNAc...).
234Phosphothreonine (By similarity).
490Phosphoserine.
Location(AA) Modifications Resource
45N-linked (GlcNAc...).Swiss-Prot 53.0
Location(AA) Modification Resource
45N-linkedHMM predict
63O-linkedHMM predict
95Phosphoserine(PKG)HMM predict
268Phosphotyrosine(Abl)HMM predict
396Phosphoserine(ATM)HMM predict
411N-linkedHMM predict
415N-linkedHMM predict
473Phosphoserine(ATM)HMM predict
475Phosphoserine(ATM)HMM predict
478Phosphothreonine(CDK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006516
  • Location:chr1 43164105-43197087
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 43205141 43205971 830 8469
FoxA1 MCF7MACSdata 43200092 43200249 157 3083
Gata1 K562GSE18868 43201144 43202492 1348 4731
Gata2 K562GSE18868 43201003 43202464 1461 4646
H3K27me3 colorectalcancer 43199364 43199978 614 2584
H3K4me3 colorectalcancer 43197780 43197955 175 780
H3ac HepG2E 43197657 43197955 298 719
H3ac HepG2E 43198305 43200213 1908 2172
Oct1 HelaGSE14283 43205608 43205657 49 8545
TAF k562GSE8489 43197657 43197955 298 719
USF1 HepG2E 43199025 43200000 975 2425
USF2 HepG2E 43199055 43200000 945 2440
hScc1 BcellGSE12603 43199025 43199295 270 2073
hScc1 BcellGSE12603 43201658 43201939 281 4711
p130 SenescentGSE19898 43196885 43197772 887 241
p130 shRbSenescentGSE19898 43210052 43210332 280 13105
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 43151696 43151959 263 12278
CTCF CD4GSE12889 43161195 43161572 377 2722
CTCF CD4SISSRdata 43151696 43151959 263 12278
CTCF CD4SISSRdata 43161195 43161572 377 2722
CTCF HelaGSE12889 43151708 43151978 270 12263
CTCF G2GSE9613 43161294 43161779 485 2569
CTCF G2GSE9613 43162522 43163188 666 1251
Fos K562GSE19551 43162207 43163138 931 1433
Myc K562GSE19551 43151725 43152054 329 12216
Nanog hESGSE18292 43151701 43151998 297 12256
Oct1 H2O2-HelaGSE14283 43161140 43161170 30 2951
PHF8 HeLaGSE20725 43162198 43163228 1030 1393
Sox2 hESGSE18292 43151737 43151971 234 12252
TFAP2C MCF7GSE21234 43149274 43149669 395 14634
hScc1 BcellGSE12603 43161221 43161706 485 2642
hScc1 CdLSGSE12603 43160972 43161742 770 2749
hScc1 G2GSE9613 43161294 43161920 626 2499
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 43179941 43181902 1961 0
CTCF CD4GSE12889 43169295 43169599 304 0
CTCF CD4SISSRdata 43169295 43169599 304 0
CTCF G2GSE9613 43168059 43168377 318 0
CTCF G2GSE9613 43168683 43169763 1080 0
CTCF G2GSE9613 43173501 43173664 163 0
CTCF G2GSE9613 43182807 43183153 346 0
CTCF G2GSE9613 43196411 43197084 673 0
FoxA1 MCF7MACSdata 43176093 43176448 355 0
Gata1 K562GSE18868 43174254 43175636 1382 0
Gata2 K562GSE18868 43174238 43175955 1717 0
H3ac HepG2E 43180105 43180407 302 0
H3ac HepG2E 43185987 43186204 217 0
H3ac HepG2E 43192127 43192442 315 0
H3ac HepG2E 43193357 43193559 202 0
H3ac HepG2E 43194088 43194497 409 0
H3ac HepG2E 43194923 43196120 1197 0
NFkBII GM10847GSE19485 43195883 43197851 1968 0
NFkBII GM15510GSE19485 43196317 43197720 1403 0
Oct1 HelaGSE14283 43168676 43168708 32 0
Oct1 HelaGSE14283 43170576 43170605 29 0
Pol2 GM12878GSE19551 43196467 43197622 1155 0
RARA MCF7GSE15244 43181270 43181764 494 0
RARA MCF7GSE15244 43182300 43182843 543 0
RARA MCF7GSE15244 43187727 43188106 379 0
TFAP2C MCF7GSE21234 43176009 43176708 699 0
hScc1 BcellGSE12603 43168879 43169763 884 0
hScc1 BcellGSE12603 43170424 43171157 733 0
hScc1 BcellGSE12603 43172905 43173930 1025 0
hScc1 BcellGSE12603 43196039 43196911 872 0
hScc1 CdLSGSE12603 43169015 43169763 748 0
hScc1 CdLSGSE12603 43170313 43170871 558 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-124 hsa-mir-124-1 8 20388802
hsa-miR-124 hsa-mir-124-2 8 20388802
hsa-miR-124 hsa-mir-124-3 20 20388802
hsa-miR-124 hsa-mir-124-1 8 20388802
hsa-miR-124 hsa-mir-124-2 8 20388802
hsa-miR-124 hsa-mir-124-3 20 20388802
hsa-miR-212 hsa-mir-212 17 20388802
hsa-miR-212 hsa-mir-212 17 20388802
hsa-miR-34a hsa-mir-34a 1 20388802
hsa-miR-34a hsa-mir-34a 1 20388802
hsa-miR-34a* hsa-mir-34a 1 20388802
hsa-miR-34a* hsa-mir-34a 1 20388802
No data
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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