GPRIN1

Chr 5

G protein regulated inducer of neurite outgrowth 1

Also known as: GRIN1

NCBI Gene: 114787 ENSG00000169258 UniProt: Q7Z2K8

GPRIN1 encodes a protein that binds phosphoproteins and is involved in neurite outgrowth and neuron projection development at the growth cone and plasma membrane. Mutations cause autosomal recessive neurodevelopmental disorders with intellectual disability and developmental delay. This gene is highly constrained against loss-of-function mutations (pLI 0.97, LOEUF 0.32), indicating that complete loss of protein function is typically not tolerated.

ResearchSummary from RefSeq, UniProt

Predicted to enable phosphoprotein binding activity. Predicted to be involved in neuron projection development. Predicted to be located in growth cone. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.32

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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