AlphaFold predicted structure
GRIP1 · Q9Y3R0
Mean pLDDT
61.7/ 100
Low
1,128 residues
Confidence breakdown
- Very high(≥ 90)5%
- Confident(70–90)45%
- Low(50–70)9%
- Very low(< 50)41%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
GRIP1
Chr 12q14.3glutamate receptor interacting protein 1
- MANE:
- ENST00000359742.9
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Anophthalmia or microphthalmia
BIALLELIC, autosomal or pseudoautosomalCAKUT
BIALLELIC, autosomal or pseudoautosomalDeafness and congenital structural abnormalities
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalLimb disorders
BIALLELIC, autosomal or pseudoautosomalStructural eye disease
BIALLELIC, autosomal or pseudoautosomalUnexplained kidney failure in young people
BIALLELIC, autosomal or pseudoautosomalUnexplained young onset end-stage renal disease - additional genes
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
Fraser syndrome
0.79alcohol drinking
0.41eye disorder
0.37polydactyly
0.37response to bronchodilator
0.33urolithiasis
0.32connective tissue disorder
0.30phlebitis
0.30Thrombophlebitis
0.30Abnormal brain morphology
0.29
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Glutamate receptor-interacting protein 1
May play a role as a localized scaffold for the assembly of a multiprotein signaling complex and as mediator of the trafficking of its binding partners at specific subcellular location in neurons (PubMed:10197531). Through complex formation with NSG1, GRIA2 and STX12 controls the intracellular fate of AMPAR and the endosomal sorting of the GRIA2 subunit toward recycling and membrane targeting (By similarity)