ADGRD1
Adhesion G Protein-Coupled Receptor D1
Gene Information Card
| Symbol | ADGRD1 |
|---|---|
| Full Name | Adhesion G Protein-Coupled Receptor D1 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 283383 ncbi.nlm.nih.gov/gene/283383 |
| Ensembl ID | ENSG00000182912 |
| UniProt ID | Q6QNK2 |
| OMIM ID | 616551 |
| HGNC ID | 19946 |
| Aliases | GPR133, PGR25 |
Description
ADGRD1 (Adhesion G Protein-Coupled Receptor D1) is a protein-coding gene that encodes a member of the adhesion G protein-coupled receptor (GPCR) family. The encoded protein contains a long N-terminal extracellular domain with a GPS (G protein-coupled receptor proteolytic site) motif, which undergoes autoproteolytic cleavage. ADGRD1 is involved in cell adhesion and signaling, and its expression is enriched in the central nervous system and certain cancer types.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Overexpression of ADGRD1 may promote tumor growth and metastasis via GPCR signaling pathways; altered expression observed in tumor tissues. | COSMIC, NCBI Gene |
| Glioblastoma | ADGRD1 is upregulated in glioblastoma and may contribute to tumor progression through adhesion and migration pathways. | NCBI Gene, COSMIC |
| Breast cancer | ADGRD1 expression changes have been reported in breast cancer cell lines and tissues, suggesting a role in tumor biology. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Cerebellum | 15.3 | Medium |
| Testis | 8.7 | Low |
| Heart | 3.2 | Low |
| Liver | 1.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Moderate expression |
| SH-SY5Y | 14.8 | Higher expression in neuronal cells |
| MCF7 | 6.5 | Low expression |
| HCT116 | 9.1 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | Missense | <0.1% | Unknown functional impact; rare variant |
| c.567C>T (p.Arg189*) | Nonsense | <0.01% | Likely loss of function; premature stop codon |
| c.890_891insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg189*, c.890_891insA) are predicted to result in loss of function due to truncated or non-functional protein.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in ADGRD1.
Dominant Negative (DN)
No evidence for dominant-negative effects in ADGRD1.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor signaling pathway | • cell adhesion |
| • plasma membrane | • integral component of membrane |
| • receptor activity |
Pathways
• GPCR signaling
• Adhesion GPCR pathway
Protein Summary
ADGRD1 encodes a 7-transmembrane adhesion GPCR with a large extracellular domain containing a GPS motif. The protein undergoes autoproteolytic cleavage at the GPS site, resulting in an N-terminal fragment and a C-terminal fragment that remain non-covalently associated. It is involved in cell-cell and cell-matrix adhesion and may modulate intracellular signaling via G proteins. Expression is prominent in brain and testis, and dysregulation has been implicated in several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADGRD1 Knockout HEK293 Cell Line | EDJ-KQ12289 | Human | 283383 | Details Get a Quote |
| ADGRD1 Knockout HeLa Cell Line | EDJ-KQ41099 | Human | 283383 | Details Get a Quote |
| ADGRD1 Knockout A-549 Cell Line | EDJ-KQ67858 | Human | 283383 | Details Get a Quote |
| ADGRD1 Knockout HCT 116 Cell Line | EDJ-KQ76239 | Human | 283383 | Details Get a Quote |
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