GPR143: G Protein-Coupled Receptor 143
Key regulator of melanosome biogenesis and pigmentation; associated with ocular albinism type 1
Gene Information Card
| Symbol | GPR143 |
|---|---|
| Full Name | G protein-coupled receptor 143 |
| Gene Type | protein-coding |
| Chromosomal Location | Xp22.2 |
| NCBI Gene ID | 4935 ncbi.nlm.nih.gov/gene/4935 |
| Ensembl ID | ENSG00000101850 |
| UniProt ID | P51810 |
| OMIM ID | 300808 |
| HGNC ID | 4512 |
| Aliases | OA1, Ocular albinism type 1 protein |
Description
GPR143 encodes a G protein-coupled receptor (GPCR) that localizes to melanosomes and regulates melanosome biogenesis, maturation, and transport. It is primarily expressed in pigment cells (melanocytes and retinal pigment epithelium). Mutations in GPR143 cause X-linked ocular albinism type 1 (OA1), characterized by reduced pigmentation in the eyes, nystagmus, and visual impairment.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ocular albinism type 1 (OA1) | Loss-of-function mutations in GPR143 disrupt melanosome biogenesis and trafficking, leading to hypopigmentation of the retinal pigment epithelium and iris. | ClinVar, OMIM |
| Nystagmus (associated) | Secondary to retinal hypopigmentation and abnormal visual pathway development. | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Retina | 8.3 | Low |
| Brain (cerebellum) | 2.1 | Not detected |
| Heart | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SK-MEL-28 (melanoma) | 15.2 | Moderate expression |
| ARPE-19 (retinal pigment epithelium) | 9.8 | Low expression |
| HEK293 | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.78G>A (p.Trp26*) | Nonsense | <1% | Loss of function; truncation of protein |
| c.251_252delAG (p.Glu84Valfs*17) | Frameshift | <1% | Loss of function; premature stop |
| c.346C>T (p.Arg116Trp) | Missense | <1% | Loss of function; impaired receptor trafficking |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations (nonsense, frameshift, missense) lead to loss of GPR143 function, impairing melanosome biogenesis and causing ocular albinism type 1.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not applicable; X-linked recessive inheritance.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity (GO:0004930) | • melanosome organization (GO:0032438) |
| • pigmentation (GO:0043473) | • visual perception (GO:0007601) |
| • intracellular signal transduction (GO:0035556) |
Pathways
• GPCR signaling (R-HSA-372790)
• Melanosome biogenesis and transport (R-HSA-5663222)
Protein Summary
GPR143 is a 404-amino acid integral membrane protein with seven transmembrane domains, characteristic of GPCRs. It is predominantly expressed in melanosomes of melanocytes and retinal pigment epithelium. The protein binds to G proteins and regulates intracellular calcium signaling, influencing melanosome maturation and movement. Mutations cause ocular albinism type 1.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GPR143 Knockout HEK293 Cell Line | EDJ-KQ5370 | Human | 4935 | Details Get a Quote |
| GPR143 Knockout HCT 116 Cell Line | EDJ-KQ28499 | Human | 4935 | Details Get a Quote |
| GPR143 Knockout HeLa Cell Line | EDJ-KQ54035 | Human | 4935 | Details Get a Quote |
| GPR143 Knockout A-549 Cell Line | EDJ-KQ62523 | Human | 4935 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
