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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
GRIP1
glutamate receptor interacting protein 1
Chromosome 12 Β· 12q14.3
NCBI Gene: 23426Ensembl: ENSG00000155974.14HGNC: HGNC:18708UniProt: A0A8V8TLS6
99PubMed Papers
21Diseases
0Drugs
31Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingidentical protein bindingpositive regulation of neuron projection arborizationneuron projectionFraser syndromeeye diseasepolydactylyresponse to bronchodilator
✦AI Summary

GRIP1 (glutamate receptor interacting protein 1) functions as a molecular scaffold protein that regulates synaptic plasticity and learning and memory through AMPAR trafficking. Mechanistically, GRIP1 binds to AMPAR subunits, particularly GluA2, and facilitates their insertion into the postsynaptic membrane during long-term potentiation (LTP) 1. This trafficking is regulated by phosphorylation of GluA2 residues, where decreased serine-880 phosphorylation and elevated tyrosine-876 phosphorylation enhance GRIP1-AMPAR binding 1. Beyond glutamate signaling, GRIP1 functions as a coactivator in nuclear receptor signaling, binding beta-catenin and synergistically enhancing transcriptional activation by androgen receptor and other nuclear receptors 2. GRIP1 also regulates glucocorticoid-driven macrophage programming through interaction with KLF4 and the glucocorticoid receptor 3. Disease relevance includes Fraser syndrome 3, a rare autosomal recessive developmental disorder 4. GRIP1 knockout mice exhibit impaired hippocampal LTP and deficits in learning and memory 1, establishing GRIP1 as essential for Hebbian synaptic plasticity. Additionally, GRIP1 regulates GABAAR recycling at inhibitory synapses 5, indicating broader roles in postsynaptic receptor homeostasis across synapse types.

Sources cited
1
GRIP1 is required for LTP and learning/memory; regulates AMPAR trafficking through GluA2 phosphorylation-dependent binding
PMID: 32948689
2
GRIP1 functions as a coactivator, binds beta-catenin, and synergistically enhances nuclear receptor transcriptional activity
PMID: 14638683
3
GRIP1 is a nuclear receptor cofactor required for glucocorticoid-driven macrophage programming and tissue-repair functions
PMID: 39424780
4
GRIP1 mutations are linked to Fraser syndrome 3, a rare autosomal recessive developmental disorder
PMID: 26522198
5
GRIP1 forms a complex with HAP1 that promotes GABAAR recycling to the postsynaptic membrane
PMID: 39388350
Disease Associationsβ“˜21
Fraser syndromeOpen Targets
0.79Strong
eye diseaseOpen Targets
0.37Weak
polydactylyOpen Targets
0.37Weak
response to bronchodilatorOpen Targets
0.31Weak
alcohol drinkingOpen Targets
0.30Weak
Abnormal brain morphologyOpen Targets
0.29Weak
connective tissue diseaseOpen Targets
0.28Weak
PhlebitisOpen Targets
0.25Weak
ThrombophlebitisOpen Targets
0.24Weak
aortic stenosisOpen Targets
0.22Weak
COVID-19Open Targets
0.22Weak
AscitesOpen Targets
0.20Weak
genetic disorderOpen Targets
0.19Weak
cholelithiasisOpen Targets
0.19Weak
severe acute respiratory syndromeOpen Targets
0.19Weak
hemolytic anemiaOpen Targets
0.19Weak
Abruptio PlacentaeOpen Targets
0.18Weak
type 1 diabetes nephropathyOpen Targets
0.17Weak
Alzheimer diseaseOpen Targets
0.17Weak
lymphoid leukemiaOpen Targets
0.17Weak
Fraser syndrome 3UniProt
Pathogenic Variants31
NM_001366722.1(GRIP1):c.1199-1G>ALikely pathogenic
not provided|Fraser syndrome 1
β˜…β˜…β˜†β˜†2025
NM_001366722.1(GRIP1):c.30T>A (p.Cys10Ter)Pathogenic
not provided|Fraser syndrome 3
β˜…β˜…β˜†β˜†2024β†’ Residue 10
NM_001366722.1(GRIP1):c.1199-2delLikely pathogenic
not provided|Fraser syndrome 3
β˜…β˜…β˜†β˜†2024
NM_001366722.1(GRIP1):c.672_675del (p.Lys224fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 224
NM_001366722.1(GRIP1):c.2749del (p.Arg917fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 917
NM_001366722.1(GRIP1):c.1285del (p.Leu429fs)Likely pathogenic
Fraser syndrome 3
β˜…β˜†β˜†β˜†2024β†’ Residue 429
NM_001366722.1(GRIP1):c.206C>A (p.Ser69Ter)Likely pathogenic
Fraser syndrome 3
β˜…β˜†β˜†β˜†2024β†’ Residue 69
NM_001366722.1(GRIP1):c.1199-2A>GLikely pathogenic
Fraser syndrome 3
β˜…β˜†β˜†β˜†2024
NM_001366722.1(GRIP1):c.1279C>T (p.Arg427Ter)Likely pathogenic
Fraser syndrome 3
β˜…β˜†β˜†β˜†2024β†’ Residue 427
NM_001366722.1(GRIP1):c.955_1042+867delLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_021150.4(GRIP1):c.1618_1619insTATATCTCCATTATTACAGCACCATLikely pathogenic
Fraser syndrome 3
β˜…β˜†β˜†β˜†2024
NM_001366722.1(GRIP1):c.1355-8_1357delLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_001366722.1(GRIP1):c.1688-1G>CLikely pathogenic
Fraser syndrome 3
β˜…β˜†β˜†β˜†2024
NM_001366722.1(GRIP1):c.116_117del (p.Val39fs)Likely pathogenic
Fraser syndrome 3
β˜…β˜†β˜†β˜†2024β†’ Residue 39
NM_001366722.1(GRIP1):c.136+1G>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_001366722.1(GRIP1):c.436_437del (p.Val146fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 146
NM_001366722.1(GRIP1):c.1559_1566dup (p.Arg523fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 523
NM_001366722.1(GRIP1):c.503-2delLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_001366722.1(GRIP1):c.137-1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_001366722.1(GRIP1):c.2768_2772delinsCTTGGTAGAACTTTGAGAAACTTTGAGAAAACTTTGAGAAAACTTTGAGAAA (p.Met923_Thr924delinsThrTrpTer)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 923
View on ClinVar β†—
Related Genes
GRIK2Protein interaction100%CARM1Protein interaction100%FREM1Protein interaction99%GRIPAP1Protein interaction99%FRAS1Protein interaction98%GOLGA4Protein interaction96%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
39%
Ovary
9%
Heart
5%
Lung
2%
Liver
1%
Gene Interaction Network
Click a node to explore
GRIP1GRIK2CARM1FREM1GRIPAP1FRAS1GOLGA4
PROTEIN STRUCTURE
Preparing viewer…
PDB2JIL Β· 1.50 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.41Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.31 [0.23–0.41]
RankingsWhere GRIP1 stands among ~20K protein-coding genes
  • #4,838of 20,598
    Most Researched99 Β· top quartile
  • #1,780of 5,498
    Most Pathogenic Variants31
  • #2,166of 17,882
    Most Constrained (LOEUF)0.41 Β· top quartile
Genes detectedGRIP1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
BDNF-induced local protein synthesis and synaptic plasticity.
PMID: 23602987
Neuropharmacology Β· 2014
1.00
2
Fraser Syndrome.
PMID: 26522198
J Coll Physicians Surg Pak Β· 2015
0.90
3
A genome-wide base-editing screen uncovers a pivotal role of paxillin Ξ΄ ubiquitination in influenza virus infection.
PMID: 40434888
Cell Rep Β· 2025
0.80
4
GRIP1 regulates synaptic plasticity and learning and memory.
PMID: 32948689
Proc Natl Acad Sci U S A Β· 2020
0.70
5
Mechanisms of epigenomic and functional convergence between glucocorticoid- and IL4-driven macrophage programming.
PMID: 39424780
Nat Commun Β· 2024
0.60