GPRASP1
G Protein-Coupled Receptor Associated Sorting Protein 1
Gene Information Card
| Symbol | GPRASP1 |
|---|---|
| Full Name | G protein-coupled receptor associated sorting protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq22.1 |
| NCBI Gene ID | 9737 ncbi.nlm.nih.gov/gene/9737 |
| Ensembl ID | ENSG00000147140 |
| UniProt ID | Q5JY77 |
| OMIM ID | 300518 |
| HGNC ID | 24823 |
| Aliases | GASP1, GASP-1, FLJ11273 |
Description
GPRASP1 encodes a protein that functions as a sorting adaptor for G protein-coupled receptors (GPCRs). It targets internalized GPCRs to lysosomes for degradation, thereby regulating receptor signaling and turnover. The gene is located on the X chromosome and is broadly expressed in human tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked intellectual disability | Loss-of-function mutations in GPRASP1 may impair GPCR trafficking, affecting neuronal signaling and development. | ClinVar: pathogenic variants reported in patients with intellectual disability. |
| Cancer (various) | Altered GPRASP1 expression may influence GPCR-mediated signaling pathways involved in tumor progression. | COSMIC: somatic mutations observed in multiple cancer types. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.4 | Embryonic kidney cells |
| SH-SY5Y | 14.1 | Neuroblastoma cells |
| HeLa | 7.8 | Cervical cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | Rare | Loss of start codon; likely loss of function |
| c.100C>T (p.Arg34*) | nonsense | Rare | Premature stop; loss of function |
| c.200_201del (p.Glu67fs) | frameshift | Rare | Frameshift; loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations lead to truncated or absent protein, impairing GPCR sorting.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • G protein-coupled receptor binding |
| • endosome to lysosome transport | • receptor internalization |
| • lysosomal transport |
Pathways
• GPCR signaling
• Endocytosis and lysosomal degradation
Protein Summary
The GPRASP1 protein (also known as GASP1) is a 507-amino acid sorting adaptor that binds to the C-terminal tails of various GPCRs. It facilitates the trafficking of internalized receptors from endosomes to lysosomes for degradation, thereby modulating receptor desensitization and resensitization. The protein is widely expressed and plays a critical role in regulating GPCR signaling duration and intensity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GPRASP1 Knockout HEK293 Cell Line | EDJ-KQ6723 | Human | 9737 | Details Get a Quote |
| GPRASP1 Knockout HeLa Cell Line | EDJ-KQ55242 | Human | 9737 | Details Get a Quote |
| GPRASP1 Knockout A-549 Cell Line | EDJ-KQ63721 | Human | 9737 | Details Get a Quote |
| GPRASP1 Knockout HCT 116 Cell Line | EDJ-KQ72182 | Human | 9737 | Details Get a Quote |
