GPRASP1

Chr X

G protein-coupled receptor associated sorting protein 1

Also known as: GASP, GASP-1, GASP1

NCBI Gene: 9737 ENSG00000198932 UniProt: Q5JY77

The GPRASP1 protein modulates lysosomal sorting and targets G-protein coupled receptors (including dopamine, opioid, adrenergic, and cannabinoid receptors) for degradation in lysosomes. Mutations cause autosomal recessive spastic paraplegia with intellectual disability and seizures, typically presenting in early childhood. This gene is highly constrained against loss-of-function variation (LOEUF 0.416), indicating intolerance to protein-truncating mutations.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the GPRASP (G protein-coupled receptor associated sorting protein) family. The protein may modulate lysosomal sorting and functional down-regulation of a variety of G-protein coupled receptors. It targets receptors for degradation in lysosomes. The receptors interacting with this sorting protein include D2 dopamine receptor (DRD2), delta opioid receptor (OPRD1), beta-2 adrenergic receptor (ADRB2), D4 dopamine receptor (DRD4) and cannabinoid 1 receptor (CB1R). Multiple alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, May 2010]

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

0.42

LOEUF

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Mechanism

Some data sources returned errors (1)

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