protein

Recombinant Human Tyrosinase

MBS951131

0.05 mg (E-Coli)

190 USD

Recombinant Protein

Recombinant Human Tyrosinase

Tyrosinase

LB24-AB; Monophenol monooxygenase; SK29-AB; Tumor rejection antigen AB

tyrosinase; Tyrosinase; tyrosinase; tyrosinase; LB24-AB; Monophenol monooxygenase; SK29-AB; Tumor rejection antigen AB

TYR

TYR; TYR; ATN; CMM8; OCA1; OCA1A; OCAIA; SHEP3

TYRO_HUMAN

E Coli or Yeast or Baculovirus or Mammalian Cell

19-377

377

HFPRACVSSKNLMEKECCPPWSGDRSPCGQLSGRGSCQN
ILLSNAPLGPQFPFTGVDDRESWPSVFYNRTCQCSGNFM
GFNCGNCKFGFWGPNCTERRLLVRRNIFDLSAPEKDKFF
AYLTLAKHTISSDYVIPIGTYGQMKNGSTPMFNDINIYD
LFVWMHYYVSMDALLGGSEIWRDIDFAHEAPAFLPWHRL
FLLRWEQEIQKLTGDENFTIPYWDWRDAEKCDICTDEYM
GGQHPTNPNLLSPASFFSSWQ

Greater than 90% as determined by SDS-PAGE.

Liquid containing glycerol; lyophilization may be available upon request.

Store at -20 degree C, for extended storage, conserve at -20 degree C or -80 degree C.

Metabolism

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.

Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment.Giebel L.B., Strunk K.M., Spritz R.A.Genomics 9:435-445(1991) Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus.Kwon B.S., Haq A.K., Pomerantz S.H., Halaban R.Proc. Natl. Acad. Sci. U.S.A. 84:7473-7477(1987) ErratumKwon B.S., Haq A.K., Pomerantz S.H., Halaban R.Proc. Natl. Acad. Sci. U.S.A. 85:6352-6352(1988) Induction of pigmentation in mouse fibroblasts by expression of human tyrosinase cDNA.Bouchard B., Fuller B.B., Vijayasaradhi S., Houghton A.N.J. Exp. Med. 169:2029-2042(1989) A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism.Chintamaneni C.D., Halaban R., Kobayashi Y., Witkop C.J., Kwon B.S.Proc. Natl. Acad. Sci. U.S.A. 88:5272-5276(1991) The tyrosinase gene codes for an antigen recognized by autologous cytolytic T lymphocytes on HLA-A2 melanomas.Brichard V., van Pel A., Woelfel T., Woelfel C., de Plaen E., Lethe B.G., Coulie P., Boon T.J. Exp. Med. 178:489-495(1993) The tyrosinase gene in gorillas and the albinism of 'Snowflake'.Martinez-Arias R., Comas D., Andres A., Abello M.-T., Domingo-Roura X., Bertranpetit J.Pigment Cell Res. 13:467-470(2000) Characteristic sequences in the upstream region of the human tyrosinase gene.Kikuchi H., Miura H., Yamamoto H., Takeuchi T., Dei T., Watanabe M.Biochim. Biophys. Acta 1009:283-286(1989) Functional analysis of the cDNA encoding human tyrosinase precursor.Takeda A., Tomita Y., Okinaga S., Tagami H., Shibahara S.Biochem. Biophys. Res. Commun. 162:984-990(1989) Molecular phylogenetics and the origins of placental mammals.Murphy W.J., Eizirik E., Johnson W.E., Zhang Y.-P., Ryder O.A., O'Brien S.J.Nature 409:614-618(2001) Molecular basis of type I (tyrosinase-related) oculocutaneous albinism mutations and polymorphisms of the human tyrosinase gene.Oetting W.S., King R.A.Hum. Mutat. 2:1-6(1993) Molecular basis of albinism mutations and polymorphisms of pigmentation genes associated with albinism.Oetting W.S., King R.A.3.3.CO;2-3>Hum. Mutat. 13:99-115(1999) Proteomic analysis of early melanosomes identification of novel melanosomal proteins.Basrur V., Yang F., Kushimoto T., Higashimoto Y., Yasumoto K., Valencia J., Muller J., Vieira W.D., Watabe H., Shabanowitz J., Hearing V.J., Hunt D.F., Appella E.J. Proteome Res. 2:69-79(2003) Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes.Chi A., Valencia J.C., Hu Z.-Z., Watabe H., Yamaguchi H., Mangini N.J., Huang H., Canfield V.A., Cheng K.C., Yang F., Abe R., Yamagishi S., Shabanowitz J., Hearing V.J., Wu C., Appella E., Hunt D.F.J. Proteome Res. 5:3135-3144(2006) Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism.Spritz R.A., Strunk K.M., Giebel L.B., King R.A.N. Engl. J. Med. 322:1724-1728(1990) A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism.Giebel L.B., Strunk K.M., King R.A., Hanifin J.M., Spritz R.A.Proc. Natl. Acad. Sci. U.S.A. 87:3255-3258(1990) Tyrosinase gene mutations associated with type IB ('yellow') oculocutaneous albinism.Giebel L.B., Tripathi R.K., Strunk K.M., Hanifin J.M., Jackson C.E., King R.A., Spritz R.A.Am. J. Hum. Genet. 48:1159-1167(1991) ErratumGiebel L.B., Tripathi R.K., Strunk K.M., Hanifin J.M., Jackson C.E., King R.A., Spritz R.A.Am. J. Hum. Genet. 49:696-696(1991) Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.Tripathi R.K., Strunk K.M., Giebel L.B., Weleber R.G., Spritz R.A.Am. J. Med. Genet. 43:865-871(1992) Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism.Spritz R.A., Strunk K.M., Hsieh C.-L., Sekhon G.S., Francke U.Am. J. Hum. Genet. 48:318-324(1991) A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse.Giebel L.B., Tripathi R.K., King R.A., Spritz R.A.J. Clin. Invest. 87:1119-1122(1991) Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism.King R.A., Mentink M.M., Oetting W.S.Mol. Biol. Med. 8:19-29(1991) Molecular analysis of type I-A (tyrosinase negative) oculocutaneous albinism.Oetting W.S., King R.A.Hum. Genet. 90:258-262(1992) Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA) .Tripathi R.K., Bundey S., Musarella M.A., Droetto S., Strunk K.M., Holmes S.A., Spritz R.A.Am. J. Hum. Genet. 53:1173-1179(1993) Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.Gershoni-Baruch R., Rosenmann A., Droetto S., Holmes S.A., Tripathi R.K., Spritz R.A.Am. J. Hum. Genet. 54:586-594(1994) Initiation codon mutation of the tyrosinase gene as a cause of human albinism.Breimer L.H., Winder A.F., Jay B., Jay M.Clin. Chim. Acta 227:17-22(1994) Diagnosis of oculocutaneous albinism with molecular analysis.Summers C.G., Oetting W.S., King R.A.Am. J. Ophthalmol. 121:724-726(1996) Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA) .Morell R., Spritz R.A., Ho L., Pierpont J., Guo W., Friedman T.B., Asher J.H. Jr.Hum. Mol. Genet. 6:659-664(1997) Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1) .Spritz R.A., Oh J., Fukai K., Holmes S.A., Ho L., Chitayat D., France T.D., Musarella M.A., Orlow S.J., Schnur R.E., Weleber R.G., Levin A.V.3.0.CO;2-X>Hum. Mutat. 10:171-174(1997) Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1) .Oetting W.S., Fryer J.P., King R.A.3.3.CO;2-7>Hum. Mutat. 12:433-434(1998) ErratumOetting W.S., Fryer J.P., King R.A.Hum. Mutat. 13:83-83(1999) Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population.Passmore L.A., Kaesmann-Kellner B., Weber B.H.F.Hum. Genet. 105:200-210(1999) ErratumPassmore L.A., Kaesmann-Kellner B., Weber B.H.F.Hum. Genet. 108:208-208(2001) Insertion/deletion mutations of type I oculocutaneous albinism in Chinese patients from Taiwan.Tsai C.-H., Tsai F.-J., Wu J.-Y., Lin S.-P., Chang J.-G., Yang C.-F., Lee C.-C.3.0.CO;2-3>Hum. Mutat. 14:542-542(1999) Mutation analysis of the tyrosinase gene in oculocutaneous albinism.Camand O., Marchant D., Boutboul S., Pequignot M., Odent S., Dollfus H., Sutherland J., Levin A., Menasche M., Marsac C., Dufier J.-L., Heon E., Abitbol M.Hum. Mutat. 17:352-352(2001) A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1) .Nakamura E., Miyamura Y., Matsunaga J., Kano Y., Dakeishi-Hara M., Tanita M., Kono M., Tomita Y.J. Dermatol. Sci. 28:102-105(2002) Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism.Opitz S., Kaesmann-Kellner B., Kaufmann M., Schwinger E., Zuehlke C.Hum. Mutat. 23:630-631(2004) A genomewide association study of skin pigmentation in a South Asian population.Stokowski R.P., Pant P.V.K., Dadd T., Fereday A., Hinds D.A., Jarman C., Filsell W., Ginger R.S., Green M.R., van der Ouderaa F.J., Cox D.R.Am. J. Hum. Genet. 81:1119-1132(2007) Genetic determinants of hair, eye and skin pigmentation in Europeans.Sulem P., Gudbjartsson D.F., Stacey S.N., Helgason A., Rafnar T., Magnusson K.P., Manolescu A., Karason A., Palsson A., Thorleifsson G., Jakobsdottir M., Steinberg S., Palsson S., Jonasson F., Sigurgeirsson B., Thorisdottir K., Ragnarsson R., Benediktsdottir K.R., Aben K.K., Kiemeney L.A., Olafsson J.H., Gulcher J., Kong A., Thorsteinsdottir U., Stefansson K.Nat. Genet. 39:1443-1452(2007) A population-based study of autosomal-recessive disease-causing mutations in a founder population.Chong J.X., Ouwenga R., Anderson R.L., Waggoner D.J., Ober C.Am. J. Hum. Genet. 91:608-620(2012) DNA variations in oculocutaneous albinism an updated mutation list and current outstanding issues in molecular diagnostics.Simeonov D.R., Wang X., Wang C., Sergeev Y., Dolinska M., Bower M., Fischer R., Winer D., Dubrovsky G., Balog J.Z., Huizing M., Hart R., Zein W.M., Gahl W.A., Brooks B.P., Adams D.R.Hum. Mutat. 34:827-835(2013) Identification of a novel mutation (p.Ile198Thr) in gene TYR in a Pakistani family with nonsyndromic oculocutaneous albinism.Shah S.A., Din S.U., Raheem N., Daud S., Mubeen J., Nadeem A., Tayyab M., Baloch D.M., Babar M.E., Ahmad J.Clin. Exp. Dermatol. 39:646-648(2014) +Additional computationally mapped references. p>Provides general information on the entry.

4507753

NP_000363.1

NM_000372.4

P14679

56.7kD

(S)-reticuline Biosynthesis Pathway (547499); (S)-reticuline Biosynthesis II Pathway (138845); Catecholamine Biosynthesis, Tyrosine = Dopamine = Noradrenaline = Adrenaline Pathway (413357); Catecholamine Biosynthesis, Tyrosine = Dopamine = Noradrenaline = Adrenaline Pathway (468235); Dopamine Metabolism Pathway (920995); L-dopachrome Biosynthesis Pathway (545322); L-dopachrome Biosynthesis Pathway (545496); Melanin Biosynthesis Pathway (1270185); Melanogenesis Pathway (83092); Melanogenesis Pathway (504)

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: 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. Increased expression after UVB irradiation. Belongs to the tyrosinase family. 2 isoforms of the human protein are produced by alternative splicing. Protein type: Oxidoreductase; EC 1.14.18.1; Membrane protein, integral; Cofactor and Vitamin Metabolism - riboflavin; Amino Acid Metabolism - tyrosine. Chromosomal Location of Human Ortholog: 11q14.3. Cellular Component: cytoplasm; cytosol; Golgi-associated vesicle; integral to membrane; lysosome; melanosome; melanosome membrane; nucleus; perinuclear region of cytoplasm. Molecular Function: copper ion binding; monooxygenase activity; monophenol monooxygenase activity; protein binding; protein heterodimerization activity; protein homodimerization activity. Biological Process: cell proliferation; eye pigment biosynthetic process; melanin biosynthetic process; melanin biosynthetic process from tyrosine; response to cAMP; response to UV; response to vitamin D; thymus development; visual perception. Disease: Albinism, Ocular, With Sensorineural Deafness; Albinism, Oculocutaneous, Type Ia; Albinism, Oculocutaneous, Type Ib; Skin/hair/eye Pigmentation, Variation In, 3

0.05 mg (E-Coli)

190 USD

0.05 mg (Yeast)

190

0.2 mg (E-Coli)

460

0.2 mg (Yeast)

460

0.5 mg (E-Coli)

750