TYR Gene - Tyrosinase
Key enzyme in melanin biosynthesis, associated with albinism and melanoma
Gene Information Card
| Symbol | TYR |
|---|---|
| Full Name | Tyrosinase |
| Gene Type | protein-coding |
| Chromosomal Location | 11q14.3 |
| NCBI Gene ID | 7299 ncbi.nlm.nih.gov/gene/7299 |
| Ensembl ID | ENSG00000077498 |
| UniProt ID | P14679 |
| OMIM ID | 606933 |
| HGNC ID | 12442 |
| Aliases | OCA1, OCA1A, OCA1B, SHEP3 |
Description
The TYR gene encodes tyrosinase, a copper-containing oxidase that catalyzes the first two steps in melanin biosynthesis: the hydroxylation of tyrosine to DOPA and the oxidation of DOPA to dopaquinone. Mutations in TYR cause oculocutaneous albinism type 1 (OCA1), and altered expression is observed in melanoma.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Oculocutaneous albinism type 1A (OCA1A) | Complete loss of tyrosinase activity due to null mutations | OMIM #203100 |
| Oculocutaneous albinism type 1B (OCA1B) | Residual tyrosinase activity from hypomorphic mutations | OMIM #606952 |
| Melanoma (susceptibility) | Somatic mutations and altered expression contribute to tumor progression | COSMIC; NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Eye (retina) | 8.2 | Low |
| Brain (substantia nigra) | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SK-MEL-28 (melanoma) | 45.6 | High expression |
| A375 (melanoma) | 38.1 | High expression |
| HEK293 (embryonic kidney) | 0.1 | Not detected |
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, no protein |
| c.929_930insC (p.Pro310fs) | Frameshift | Rare | Truncated, nonfunctional |
| c.1037G>A (p.Arg346Gln) | Missense | Common in OCA1B | Reduced catalytic activity |
Mutation functional classification
Loss of Function (LOF)
Most TYR mutations cause loss of tyrosinase activity, leading to OCA1.
Gain of Function (GOF)
Not reported; gain-of-function is not a known mechanism for TYR.
Dominant Negative (DN)
Not reported; TYR mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • tyrosinase activity (GO:0004503) | • melanin biosynthetic process (GO:0042438) |
| • L-ascorbic acid binding (GO:0031418) | • copper ion binding (GO:0005507) |
| • integral component of membrane (GO:0016021) |
Pathways
• Melanin biosynthesis (Reactome: R-HSA-5662702)
• Tyrosine metabolism (KEGG: hsa00350)
Protein Summary
Tyrosinase is a 529-amino acid transmembrane glycoprotein localized to melanosomes. It contains two copper-binding domains essential for catalytic activity. The protein is synthesized as a precursor, processed in the Golgi, and transported to melanosomes where it initiates melanin synthesis. Defects cause albinism; overexpression is a hallmark of melanoma.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TYR Knockout HEK293 Cell Line | EDJ-KQ2095 | Human | 7299 | Details Get a Quote |
| TYRP1 Knockout HEK293 Cell Line | EDJ-KQ5253 | Human | 7306 | Details Get a Quote |
| TYROBP Knockout HEK293 Cell Line | EDJ-KQ5985 | Human | 7305 | Details Get a Quote |
| TYRO3 Knockout HEK293 Cell Line | EDJ-KQ17793 | Human | 7301 | Details Get a Quote |
| TYRO3 Knockout A-549 Cell Line | EDJ-KQ19882 | Human | 7301 | Details Get a Quote |
| TYRO3 Knockout HCT 116 Cell Line | EDJ-KQ19883 | Human | 7301 | Details Get a Quote |
| TYRO3 Knockout HeLa Cell Line | EDJ-KQ19884 | Human | 7301 | Details Get a Quote |
| TYR Knockout HeLa Cell Line | EDJ-KQ54712 | Human | 7299 | Details Get a Quote |
| TYROBP Knockout HeLa Cell Line | EDJ-KQ54713 | Human | 7305 | Details Get a Quote |
| TYRP1 Knockout HeLa Cell Line | EDJ-KQ54714 | Human | 7306 | Details Get a Quote |
| TYR Knockout A-549 Cell Line | EDJ-KQ63202 | Human | 7299 | Details Get a Quote |
| TYROBP Knockout A-549 Cell Line | EDJ-KQ63203 | Human | 7305 | Details Get a Quote |
| TYRP1 Knockout A-549 Cell Line | EDJ-KQ63204 | Human | 7306 | Details Get a Quote |
| TYR Knockout HCT 116 Cell Line | EDJ-KQ71669 | Human | 7299 | Details Get a Quote |
| TYROBP Knockout HCT 116 Cell Line | EDJ-KQ71670 | Human | 7305 | Details Get a Quote |
Displaying Records 1 To 15 Of 16 Records
