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The enzyme encoded by this gene catalyzes the first 2 steps, and at least 1 subsequent step, in the conversion of tyrosine to melanin. The enzyme has both tyrosine hydroxylase and dopa oxidase catalytic activities, and requires copper for function. Mutations in this gene result in oculocutaneous albinism, and nonpathologic polymorphisms result in skin pigmentation variation. The human genome contains a pseudogene similar to the 3' half of this gene. [provided by RefSeq, Oct 2008]
TYR (Tyrosinase) is a Protein Coding gene. Diseases associated with TYR include Albinism, Oculocutaneous, Type Ia and Albinism, Oculocutaneous, Type Ib. Among its related pathways are (S)-reticuline biosynthesis and Tyrosine metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and oxidoreductase activity. An important paralog of this gene is TYRP1.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH11J089175 | Enhancer | 0.5 | FANTOM5 Ensembl | 620 | -1.5 | -1465 | 0.6 | USF1 | TYR LOC107984363 GRM5 | |
GH11J089177 | Promoter | 0.3 | EPDnew | 600.7 | +0.3 | 291 | 0.1 | TYR RF00994-198 LOC107984363 NOX4 | ||
GH11J089168 | Enhancer | 0.3 | FANTOM5 Ensembl | 13.9 | -9.1 | -9064 | 0.6 | TYR GRM5 LOC107984363 | ||
GH11J089066 | Promoter | 1 | EPDnew Ensembl | 0.1 | -111.6 | -111565 | 0.4 | ZIC2 EZH2 RAD21 ZBTB26 TBP L3MBTL2 | GRM5 TYR | |
GH11J089294 | Promoter/Enhancer | 0.9 | Ensembl ENCODE CraniofacialAtlas | 0.1 | +116.7 | 116736 | 1 | CTCF | CBX3P7 lnc-NOX4-2 ENSG00000279297 TYR NOX4 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004497 | monooxygenase activity | IEA | -- |
GO:0004503 | monophenol monooxygenase activity | IBA,IDA | 11092760 |
GO:0005507 | copper ion binding | IMP | 11092760 |
GO:0005515 | protein binding | IPI | 16162817 |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005737 | cytoplasm | IDA | 11092760 |
GO:0005764 | lysosome | TAS | 11092760 |
GO:0005798 | Golgi-associated vesicle | TAS | 10823941 |
GO:0005829 | cytosol | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism |
.40
|
|
2 | Tyrosine metabolism |
Tyrosine metabolism p.1 (dopamine)
.32
|
|
3 | (S)-reticuline biosynthesis | ||
4 | Glucose / Energy Metabolism | ||
5 | Aldosterone synthesis and secretion |
.41
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006583 | melanin biosynthetic process from tyrosine | TAS | 7704033 |
GO:0006726 | eye pigment biosynthetic process | TAS | 7704033 |
GO:0007601 | visual perception | TAS | 7704033 |
GO:0008283 | cell proliferation | IEA | -- |
GO:0009411 | response to UV | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Monobenzone | Approved | Pharma | Target, inhibitor | 0 | ||
Arbutin | Approved | Pharma | Target, inhibitor | 0 | ||
Azelaic acid | Approved | Pharma | Target, inhibitor | 38 | ||
Copper | Approved, Investigational | Pharma | Enzyme, cofactor | 249 | ||
Hydroquinone | Approved, Investigational | Pharma | Target, inhibitor | 27 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
5,6-Dihydroxyindole |
|
3131-52-0 | ||||
dopaquinone |
|
4430-97-1 | ||||
Quinone |
|
106-51-4 | ||||
(S)-3-Hydroxy-N-methylcoclaurine |
|
|
||||
(S)-N-Methylcoclaurine |
|
|
Compound | Action | Cas Number |
---|---|---|
Arbutin | 497-76-7 | |
Curcumin | Tyrosinase inhibitor | 458-37-7 |
Deoxyarbutin | 53936-56-4 | |
Dihydroartemisinin | 71939-50-9 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TYR 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TYR 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TYR 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tyr 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tyr 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | TYR 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TYR 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TYR 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TYR 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tyr 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tyr 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.12134 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
627594 | Likely Pathogenic: Tyrosinase-negative oculocutaneous albinism | 89,178,110(+) | G/T | MISSENSE_VARIANT | |
627595 | Likely Pathogenic: Tyrosinase-negative oculocutaneous albinism | 89,178,482(+) | G/C | MISSENSE_VARIANT | |
627596 | Pathogenic: Tyrosinase-negative oculocutaneous albinism | 89,284,863(+) | C/G | NONSENSE | |
627597 | Likely Pathogenic: Tyrosinase-negative oculocutaneous albinism | 89,284,786(+) | T/A | MISSENSE_VARIANT | |
637017 | Pathogenic: Tyrosinase-negative oculocutaneous albinism | 89,295,228(+) | AG/A | FRAMESHIFT_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
albinism, oculocutaneous, type ia |
|
|
albinism, oculocutaneous, type ib |
|
|
skin/hair/eye pigmentation, variation in, 3 |
|
|
ocular albinism with congenital sensorineural deafness |
|
|
albinism |
|