TYRP1 (Tyrosinase Related Protein 1)
Key enzyme in melanin biosynthesis, associated with oculocutaneous albinism and melanoma
Gene Information Card
| Symbol | TYRP1 |
|---|---|
| Full Name | Tyrosinase Related Protein 1 |
| Gene Type | protein coding |
| Chromosomal Location | 9p23 |
| NCBI Gene ID | 7306 ncbi.nlm.nih.gov/gene/7306 |
| Ensembl ID | ENSG00000107165 |
| UniProt ID | P17643 |
| OMIM ID | 115501 |
| HGNC ID | 12453 |
| Aliases | TRP1, CAS2, TYRP, b-PROTEIN, gp75, TRP-1 |
Description
TYRP1 encodes tyrosinase related protein 1, a melanosomal enzyme involved in the melanin biosynthesis pathway. It catalyzes the oxidation of 5,6-dihydroxyindole-2-carboxylic acid (DHICA) to indole-5,6-quinone-2-carboxylic acid, a key step in eumelanin production. Mutations in TYRP1 cause oculocutaneous albinism type 3 (OCA3), and altered expression is observed in melanoma.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Oculocutaneous Albinism Type 3 (OCA3) | Loss-of-function mutations in TYRP1 disrupt DHICA oxidase activity, reducing eumelanin synthesis | ClinVar, OMIM |
| Melanoma | TYRP1 is a melanocyte differentiation antigen; overexpression or aberrant splicing may contribute to tumor progression | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Eye | 8.3 | Low |
| Brain | 0.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SK-MEL-28 | 15.1 | Melanoma cell line |
| A375 | 10.8 | Melanoma cell line |
| HEK293 | 0.1 | Non-melanocytic control |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1103T>C (p.Leu368Pro) | Missense | Rare | Loss of DHICA oxidase activity; associated with OCA3 |
| c.1A>G (p.Met1?) | Start loss | Rare | Complete loss of protein; OCA3 |
| c.1066G>A (p.Gly356Arg) | Missense | Rare | Reduced enzyme activity; OCA3 |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations that reduce or abolish DHICA oxidase activity, leading to OCA3.
Gain of Function (GOF)
Not reported in TYRP1.
Dominant Negative (DN)
Not reported in TYRP1.
View complete mutation data：
Gene Ontology (GO)
| • oxidoreductase activity | • metal ion binding |
| • melanosome | • melanin biosynthetic process |
| • DHICA oxidase activity |
Pathways
• Melanin biosynthesis (R-HSA-5662702)
• Tyrosine metabolism (KEGG:00350)
Protein Summary
TYRP1 is a 537-amino acid transmembrane glycoprotein localized to melanosomes. It contains a conserved tyrosinase domain and functions as a DHICA oxidase in eumelanin synthesis. The protein also acts as a melanocyte differentiation antigen recognized by T cells in melanoma patients.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TYRP1 Knockout HEK293 Cell Line | EDJ-KQ5253 | Human | 7306 | Details Get a Quote |
| TYRP1 Knockout HeLa Cell Line | EDJ-KQ54714 | Human | 7306 | Details Get a Quote |
| TYRP1 Knockout A-549 Cell Line | EDJ-KQ63204 | Human | 7306 | Details Get a Quote |
| TYRP1 Knockout HCT 116 Cell Line | EDJ-KQ71671 | Human | 7306 | Details Get a Quote |
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