AutismKB 2.0

Annotation Detail for GRIA1


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Basic Information Top
Gene Symbol:GRIA1 ( GLUH1,GLUR1,GLURA,GluA1,HBGR1,MGC133252 )
Gene Full Name: glutamate receptor, ionotropic, AMPA 1
Band: 5q33.2
Quick LinksEntrez ID:2890; OMIM: 138248; Uniprot ID:GRIA1_HUMAN; ENSEMBL ID: ENSG00000155511; HGNC ID: 4571
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
63N-linked (GlcNAc...) (Potential).
249N-linked (GlcNAc...) (Potential).
257N-linked (GlcNAc...) (Potential).
363N-linked (GlcNAc...) (Potential).
401N-linked (GlcNAc...) (Potential).
406N-linked (GlcNAc...) (Potential).
645Phosphoserine (By similarity).
710Phosphoserine (By similarity).
849Phosphoserine (By similarity).
863Phosphoserine (By similarity).
Location(AA) Modifications Resource
63N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
249N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
257N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
363N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
401N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
406N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
603S-palmitoyl cysteine (By similarity).Swiss-Prot 53.0
645Phosphoserine (By similarity).Swiss-Prot 53.0
710Phosphoserine (By similarity).Swiss-Prot 53.0
829S-palmitoyl cysteine (By similarity).Swiss-Prot 53.0
849Phosphoserine (By similarity).Swiss-Prot 53.0
849Phosphoserine (PKC
863Phosphoserine (By similarity).Swiss-Prot 53.0
863Phosphoserine (PKA
Location(AA) Modification Resource
179O-linkedHMM predict
249N-linkedHMM predict
257N-linkedHMM predict
306Phosphoserine(CDK)HMM predict
363N-linkedHMM predict
401N-linkedHMM predict
406N-linkedHMM predict
645Phosphoserine(CAMK2)HMM predict
676Phosphoserine(PKC)HMM predict
710Phosphoserine(PKC)HMM predict
710Phosphoserine(PKG)HMM predict
794O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000827
  • Location:chr5 152850498-153171353
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
p63 keratinocytesGSE17611 152836508 152836965 457 13762
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FoxA1 MCF7MACSdata 153188927 153189077 150 17649
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 152988363 152989394 1031 0
CTCF G2GSE9613 153004460 153004610 150 0
CTCF G2GSE9613 153009923 153010169 246 0
FOXA1 MCF7GSE15244 152864505 152865117 612 0
FoxA1 MCF7MACSdata 152861835 152862079 244 0
FoxA1 MCF7MACSdata 152864783 152864931 148 0
P300 T0-glioblastomaGSE21026 152988405 152989375 970 0
P300 T30-glioblastomaGSE21026 152911210 152912208 998 0
P300 T30-glioblastomaGSE21026 152988602 152989489 887 0
Pol3 GM12878GSE19551 153048999 153049387 388 0
hScc1 CdLSGSE12603 152856484 152857031 547 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-132 hsa-mir-132 17 19958814
hsa-miR-132 hsa-mir-132 17 19850129
hsa-miR-132* hsa-mir-132 17 19958814
hsa-miR-132* hsa-mir-132 17 19850129
hsa-miR-9 hsa-mir-9-1 1 19958814
hsa-miR-9 hsa-mir-9-2 5 19958814
hsa-miR-9 hsa-mir-9-3 15 19958814
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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