AutismKB 2.0

Annotation Detail for SLC1A1


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Basic Information Top
Gene Symbol:SLC1A1 ( EAAC1,EAAT3 )
Gene Full Name: solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
Band: 9p24.2
Quick LinksEntrez ID:6505; OMIM: 133550; Uniprot ID:EAA3_HUMAN; ENSEMBL ID: ENSG00000106688; HGNC ID: 10939
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
43N-linked (GlcNAc...) (Potential).
178N-linked (GlcNAc...) (Potential).
195N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
43N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
178N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
195N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
42Phosphoserine(IKK)HMM predict
84O-linkedHMM predict
132Phosphoserine(IKK)HMM predict
132Phosphoserine(PKB)HMM predict
164Phosphothreonine(PKC)HMM predict
178N-linkedHMM predict
195N-linkedHMM predict
402O-linkedHMM predict
403O-linkedHMM predict
517Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004170
  • Location:chr9 4480443-4577468
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 4463082 4463120 38 17343
Oct1 HelaGSE14283 4463083 4463120 37 17342
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER MCF7GSE19013 4497562 4498091 529 0
FOXA1 MCF7GSE15244 4497587 4499092 1505 0
FOXA1 MCF7GSE15244 4520188 4521045 857 0
FoxA1 MCF7MACSdata 4520520 4520722 202 0
Myc K562GSE19551 4509670 4509918 248 0
NRSF JurkatGSE13047 4575023 4575683 660 0
NRSF mAbJurkat 4573928 4575673 1745 0
NRSF-mono JurkatQuESTdata 4575094 4575682 588 0
NRSF-poly JurkatQuESTdata 4575023 4575556 533 0
Nanog ESGSE20650 4504681 4505202 521 0
Nanog hESGSE18292 4504714 4505005 291 0
Oct1 HelaGSE14283 4557633 4557666 33 0
Oct4 hESGSE21916 4504421 4505275 854 0
P300 T0-glioblastomaGSE21026 4544958 4545773 815 0
RARA MCF7GSE15244 4497587 4498708 1121 0
TFAP2C MCF7GSE21234 4500053 4500544 491 0
TFAP2C MCF7GSE21234 4500567 4500909 342 0
TFAP2C MCF7GSE21234 4528699 4529020 321 0
hScc1 BcellGSE12603 4480026 4480965 939 0
hScc1 BcellGSE12603 4538913 4539794 881 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-182 hsa-mir-182 7 20478254
hsa-miR-182* hsa-mir-182 7 20478254
hsa-miR-204 hsa-mir-204 9 20478254
hsa-miR-211 hsa-mir-211 15 20478254
hsa-miR-96 hsa-mir-96 7 20478254
hsa-miR-96* hsa-mir-96 7 20478254
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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