AutismKB 2.0

Annotation Detail for GRIN1


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Basic Information Top
Gene Symbol:GRIN1 ( NMDA1,NMDAR1,NR1 )
Gene Full Name: glutamate receptor, ionotropic, N-methyl D-aspartate 1
Band: 9q34.3
Quick LinksEntrez ID:2902; OMIM: 138249; Uniprot ID:NMDZ1_HUMAN; ENSEMBL ID: ENSG00000176884; HGNC ID: 4584
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
61N-linked (GlcNAc...) (Potential).
203N-linked (GlcNAc...) (Potential).
239N-linked (GlcNAc...) (Potential).
276N-linked (GlcNAc...) (Potential).
300N-linked (GlcNAc...) (Potential).
350N-linked (GlcNAc...) (Potential).
368N-linked (GlcNAc...) (Potential).
440N-linked (GlcNAc...) (Potential).
471N-linked (GlcNAc...) (Potential).
491N-linked (GlcNAc...) (Potential).
889Phosphoserine; by PKC (Probable).
890Phosphoserine; by PKC (Probable).
896Phosphoserine; by PKC (Probable).
897Phosphoserine; by PKC (Probable).
Location(AA) Modifications Resource
61N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
203N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
239N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
276N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
300N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
350N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
368N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
440N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
471N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
491N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
889Phosphoserine (by PKC) (Probable).Swiss-Prot 53.0
889Phosphoserine (PKC
890Phosphoserine (by PKC) (Probable).Swiss-Prot 53.0
890Phosphoserine (PKC
896Phosphoserine (by PKC) (Probable).Swiss-Prot 53.0
896Phosphoserine (PKC
897Phosphoserine (by PKC) (Probable).Swiss-Prot 53.0
897Phosphoserine (PKC
Location(AA) Modification Resource
35Phosphothreonine(PKC)HMM predict
61N-linkedHMM predict
97Phosphothreonine(MAPK)HMM predict
97Phosphothreonine(CDC2)HMM predict
105O-linkedHMM predict
239N-linkedHMM predict
300N-linkedHMM predict
368N-linkedHMM predict
410Phosphotyrosine(EGFR)HMM predict
440N-linkedHMM predict
443Phosphoserine(IKK)HMM predict
443O-linkedHMM predict
446PhosphoserineHMM predict
446Phosphoserine(CDK)HMM predict
446Phosphoserine(CDC2)HMM predict
471N-linkedHMM predict
491N-linkedHMM predict
492N-linkedHMM predict
494N-linkedHMM predict
676PhosphoserineHMM predict
711Phosphotyrosine(INSR)HMM predict
711Phosphotyrosine(Syk)HMM predict
766PhosphoserineHMM predict
800Phosphoserine(CK1)HMM predict
860MethyllysineHMM predict
879Phosphothreonine(PKC)HMM predict
890Phosphoserine(PKC)HMM predict
896Phosphoserine(PKC)HMM predict
896PhosphoserineHMM predict
896Phosphoserine(PKG)HMM predict
897Phosphoserine(PKG)HMM predict
897Phosphoserine(PKA)HMM predict
897Phosphoserine(IKK)HMM predict
897Phosphoserine(PKA)HMM predict
897Phosphoserine(CAMK2)HMM predict
906MethylarginineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_007327
  • Location:chr9 139153429-139183027
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 139143547 139144498 951 9407
PHF8 HeLaGSE20725 139142234 139144997 2763 9814
Rb SenescentGSE19898 139143924 139144313 389 9311
Rb shRbSenescenceGSE19898 139143739 139143978 239 9571
TAF k562GSE8489 139142629 139142887 258 10672
hScc1 BcellGSE12603 139141479 139141831 352 11775
hScc1 BcellGSE12603 139142394 139142596 202 10935
p130 QuiescentGSE19898 139143819 139144086 267 9477
p130 shRbQuiescentGSE19898 139143793 139144321 528 9373
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 139168543 139168925 382 0
KLF4 hESGSE17917 139181806 139181962 156 0
NFkBII GM10847GSE19485 139164792 139166423 1631 0
NFkBII GM12878GSE19485 139163795 139166353 2558 0
NFkBII GM12878GSE19485 139172517 139174378 1861 0
NFkBII GM12892GSE19485 139163932 139166177 2245 0
NFkBII GM12892GSE19485 139172729 139174460 1731 0
NFkBII GM15510GSE19485 139164869 139166183 1314 0
NFkBII GM18505GSE19485 139164269 139166415 2146 0
NFkBII GM18526GSE19485 139164085 139166406 2321 0
NRSF JurkatGSE13047 139152278 139155152 2874 0
NRSF JurkatGSE13047 139160465 139161291 826 0
NRSF mAbJurkat 139156206 139157808 1602 0
NRSF-mono JurkatQuESTdata 139152283 139155629 3346 0
NRSF-mono JurkatQuESTdata 139159964 139161322 1358 0
NRSF-poly JurkatQuESTdata 139152016 139155152 3136 0
NRSF-poly JurkatQuESTdata 139160724 139161293 569 0
TAF k562GSE8489 139166517 139167017 500 0
TFAP2C MCF7GSE21234 139173980 139174537 557 0
USF2 HepG2E 139164253 139165794 1541 0
hScc1 BcellGSE12603 139153494 139153940 446 0
hScc1 BcellGSE12603 139154452 139154955 503 0
hScc1 BcellGSE12603 139159844 139160276 432 0
hScc1 BcellGSE12603 139161168 139161488 320 0
hScc1 BcellGSE12603 139164420 139165912 1492 0
hScc1 BcellGSE12603 139175327 139175667 340 0
hScc1 BcellGSE12603 139176522 139177127 605 0
hScc1 BcellGSE12603 139177452 139177844 392 0
hScc1 BcellGSE12603 139180490 139181010 520 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-219-1-3p hsa-mir-219-1 6 19196972
hsa-miR-219-2-3p hsa-mir-219-2 9 19196972
hsa-miR-219-5p hsa-mir-219-1 6 19196972
hsa-miR-219-5p hsa-mir-219-2 9 19196972
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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