Tyrosinase Recombinant Protein | TYR recombinant protein

Recombinant Human Tyrosinase, partial

Cat. Num. AAA951131

• Gene Names: TYR; ATN; CMM8; OCA1; OCA1A; OCAIA; SHEP3
• Purity: Greater or equal to 85% purity as determined by SDS-PAGE.
• Synonyms: Tyrosinase; Recombinant Human Tyrosinase; partial; LB24-AB; Monophenol monooxygenase; SK29-AB; Tumor rejection antigen AB; TYR recombinant protein

• Host: E Coli or Yeast or Baculovirus or Mammalian Cell
• Purity/Purification: Greater or equal to 85% purity as determined by SDS-PAGE.
• Form/Format: Lyophilized or liquid (Format to be determined during the manufacturing process)
• Sequence Positions: 19-377. Partial
• Sequence: HFPRACVSSKNLMEKECCPPWSGDRSPCGQLSGRGSCQNILLSNAPLGPQFPFTGVDDRESWPSVFYNRTCQCSGNFMGFNCGNCKFGFWGPNCTERRLLVRRNIFDLSAPEKDKFFAYLTLAKHTISSDYVIPIGTYGQMKNGSTPMFNDINIYDLFVWMHYYVSMDALLGGSEIWRDIDFAHEAPAFLPWHRLFLLRWEQEIQKLTGDENFTIPYWDWRDAEKCDICTDEYMGGQHPTNPNLLSPASFFSSWQIVCSRLEEYNSHQSLCNGTPEGPLRRNPGNHDKSRTPRLPSSADVEFCLSLTQYESGSMDKAANFSFRNTLEGFASPLTGIADASQSSMHNALHIYMNGTMSQV

• Preparation and Storage: Store at -20 degree C, for extended storage, conserve at -20 degree C or -80 degree C.

SDS-PAGE

Related Product Information for TYR recombinant protein

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.

Product Categories/Family for TYR recombinant protein

Metabolism

References

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.

NCBI and Uniprot Product Information

• NCBI GI #: 4507753
• NCBI GeneID: 7299
• NCBI Accession #: NP_000363.1
• NCBI GenBank Nucleotide #: NM_000372.4
• UniProt Accession #: P14679; Q15675; Q15676; Q15680; Q8TAK4; Q9BYY0; Q9BZX1
• Molecular Weight: 42.7 kDa
• NCBI Official Full Name: tyrosinase
• NCBI Official Synonym Full Names: tyrosinase
• NCBI Official Symbol: TYR
• NCBI Official Synonym Symbols: ATN; CMM8; OCA1; OCA1A; OCAIA; SHEP3
• NCBI Protein Information: tyrosinase
• UniProt Protein Name: Tyrosinase
• Protein Family: Tyrosinase
• UniProt Gene Name: TYR
• UniProt Entry Name: TYRO_HUMAN

NCBI Description

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]

Uniprot Description

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