ID:TYRO_HUMAN DESCRIPTION: RecName: Full=Tyrosinase; EC=1.14.18.1; AltName: Full=LB24-AB; AltName: Full=Monophenol monooxygenase; AltName: Full=SK29-AB; AltName: Full=Tumor rejection antigen AB; Flags: Precursor; FUNCTION: This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds. Catalyzes the rate-limiting conversions of tyrosine to DOPA, DOPA to DOPA-quinone and possibly 5,6-dihydroxyindole to indole-5,6 quinone. CATALYTIC ACTIVITY: 2 L-dopa + O(2) = 2 dopaquinone + 2 H(2)O. CATALYTIC ACTIVITY: L-tyrosine + O(2) = dopaquinone + H(2)O. COFACTOR: Binds 2 copper ions per subunit. SUBCELLULAR LOCATION: Melanosome membrane; Single-pass type I membrane protein. INDUCTION: Increased expression after UVB irradiation. POLYMORPHISM: Genetic variants in TYR define the skin/hair/eye pigmentation variation locus 3 (SHEP3) [MIM:601800]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair. POLYMORPHISM: Compound heterozygosity for the R402Q polymorphism and a mutant allele of TYR is a common cause of autosomal recessive ocular albinism. The R402Q polymorphism is also found in Waardenburg syndrome type II with ocular albinism (WS2-OA) in association with a deletion in the MITF gene. DISEASE: Defects in TYR are the cause of albinism oculocutaneous type 1A (OCA1A) [MIM:203100]; also known as tyrosinase negative oculocutaneous albinism. An autosomal recessive disorder in which the biosynthesis of melanin pigment is absent in skin, hair, and eyes. It is characterized by complete lack of tyrosinase activity due to production of an inactive enzyme. Patients present with a life-long absence of melanin pigment after birth, and manifest increased sensitivity to ultraviolet radiation with predisposition to skin cancer. Visual anomalies include decreased acuity, nystagmus, strabismus and photophobia. DISEASE: Defects in TYR are the cause of albinism oculocutaneous type 1B (OCA1B) [MIM:606952]; also known as albinism yellow mutant type. An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. It is characterized by partial lack of tyrosinase activity. Patients have white hair at birth that rapidly turns yellow or blond. They manifest the development of minimal-to-moderate amounts of cutaneous and ocular pigment. Some patients may have with white hair in the warmer areas (scalp and axilla) and progressively darker hair in the cooler areas (extremities). This variant phenotype is due to a loss of tyrosinase activity above 35-37 degrees C. SIMILARITY: Belongs to the tyrosinase family. SEQUENCE CAUTION: Sequence=AAA61241.1; Type=Erroneous initiation; Sequence=CAA68756.1; Type=Erroneous initiation; WEB RESOURCE: Name=Mutations of the TYR gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/tyrmut.htm"; WEB RESOURCE: Name=Albinism database (ADB); Note=TYR mutations; URL="http://albinismdb.med.umn.edu/oca1mut.html"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TYR"; WEB RESOURCE: Name=Protein Spotlight; Note=Snowy stardom - Issue 49 of August 2004; URL="http://web.expasy.org/spotlight/back_issues/sptlt049.shtml"; WEB RESOURCE: Name=Wikipedia; Note=Tyrosinase entry; URL="http://en.wikipedia.org/wiki/Tyrosinase";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P14679
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
