Recombinant Human Tyrosinase(TYR),partial

Code CSB-EP025394HU
Size US$1726
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  • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.

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Product Details

Purity Greater than 90% as determined by SDS-PAGE.
Target Names TYR
Uniprot No. P14679
Research Area Metabolism
Alternative Names ATN; CMM8; LB24 AB; LB24-AB; Monophenol monooxygenase; OCA1; OCA1A; OCAIA; Oculocutaneous albinism IA; SHEP3; SK29 AB; SK29-AB; Tumor rejection antigen AB; TYR; TYRO_HUMAN; tyrosinase (oculocutaneous albinism IA); Tyrosinase
Species Homo sapiens (Human)
Source E.coli
Expression Region 19-377aa
Target Protein Sequence HFPRACVSSKNLMEKECCPPWSGDRSPCGQLSGRGSCQNILLSNAPLGPQFPFTGVDDRESWPSVFYNRTCQCSGNFMGFNCGNCKFGFWGPNCTERRLLVRRNIFDLSAPEKDKFFAYLTLAKHTISSDYVIPIGTYGQMKNGSTPMFNDINIYDLFVWMHYYVSMDALLGGSEIWRDIDFAHEAPAFLPWHRLFLLRWEQEIQKLTGDENFTIPYWDWRDAEKCDICTDEYMGGQHPTNPNLLSPASFFSSWQIVCSRLEEYNSHQSLCNGTPEGPLRRNPGNHDKSRTPRLPSSADVEFCLSLTQYESGSMDKAANFSFRNTLEGFASPLTGIADASQSSMHNALHIYMNGTMSQV
Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
Mol. Weight 56.7kDa
Protein Length Partial
Tag Info N-terminal 6xHis-SUMO-tagged
Form Liquid or Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
Buffer If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.
Note: If you have any special requirement for the glycerol content, please remark when you place the order.
If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting
and FAQs
Protein FAQs
Storage Condition Store at -20°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Notes Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet & COA Please contact us to get it.

Target Data

Function This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds. Catalyzes the initial and rate limiting step in the cascade of reactions leading to melanin production from tyrosine. In addition to hydroxylating tyrosine to DOPA (3,4-dihydroxyphenylalanine), also catalyzes the oxidation of DOPA to DOPA-quinone, and possibly the oxidation of DHI (5,6-dihydroxyindole) to indole-5,6 quinone.
Gene References into Functions
  1. Membrane-associated human tyrosinase is an enzymatically active monomeric glycoprotein. PMID: 29870551
  2. The effect of histidine mutations on the structural stability of human tyrosinase leading to albinism has been reported. PMID: 28640309
  3. Compound heterozygous mutations (c.832C>T and c.929_930insC) in the TYR gene may be responsible for partial clinical manifestations of oculocutaneous albinism PMID: 27829221
  4. Mutations in tyrosinase gene is associated with Oculocutaneous albinism type 1. PMID: 27775880
  5. tyrosinase as a potential GPR143 binding protein opens new avenues for investigating the mechanisms that regulate pigmentation and neurogenesis. PMID: 27720922
  6. Aberrant tyrosinase expression in an atypical fibroxanthoma PMID: 28097678
  7. Findings suggested that miR-330-5p represents a potential tumor-suppressive miRNA and plays an important role in cutaneous malignant melanoma progression by suppressing TYR and PDIA3 expression. PMID: 27363653
  8. Four missense substitutions (p.Arg239Trp, p.Ser192Tyr, p.Ser44Arg and p.Arg77Gln) were identified in tyrosinase in the families with oculocutaneous albinism linkage, and another missense substitution (p.Gln272Lys) was identified in the family with OCA4 linkage PMID: 25703744
  9. LEF-1 and MITF regulate tyrosinase gene transcription in vitro via binding to its promoter. PMID: 26580798
  10. Data show that mutant microphthalmia-associated transcription factor (MITF) with loss of localization signals (NLS) has failed to transactivate the transcriptional activities of target gene tyrosinase (TYR), which can cause Waardenburg syndrome. PMID: 26663053
  11. The tyrosinase gene was examined in 23 unrelated patients with autosomal recessive ocular albinism or nonsyndromic oculocutaneous albinism. TYR gene mutations were identi fi ed in 14 (app. 60%) albinism patients. PMID: 26167114
  12. The two mutations (c.1114delG in the TYR gene and c.1426A>G in the OCA2 gene) may be responsible for partial clinical manifestations of Oculocutaneous albinism. PMID: 25919014
  13. Molecular analysis identified two compound heterozygous TYR mutations known to cause OCAIA and cosegregate with oculocutaneous albinism. In addition, we identified a novel heterozygous PAX6 mutation confirming the atypical aniridia phenotype. PMID: 25687215
  14. Overall, our data strongly suggest that IRF4, MC1R and TYR genes likely have pleiotropic effects, a combination of pigmentation and oncogenic functions, resulting in an increased risk of actinic keratosis. PMID: 25724930
  15. Data indicate that tyrosinase is used as a reporter gene owing to its strong optical absorption and enzymatic amplification mechanism and melamin production. PMID: 24936769
  16. Identification of four novel TYR mutations in a Chinese Han population with Oculocutaneous albinism 1. PMID: 25577957
  17. 11/11 individuals with homozygous or compound heterozygous mutations in TYR, have no discernible pigmentation in hair, skin and eyes PMID: 25455140
  18. human tyrosinase, which can oxidize l-tyrosine but not d-tyrosine, was found to oxidize both R(-)- and S(+)-rhododendrol. PMID: 25130058
  19. Among the 24 (58.5%) patients with OCA1, 21 different TYR mutations were identified, including three previously unidentified alleles PMID: 24721949
  20. Two new pathogenic p.C89S and p.H180R mutations in TYR were detected in two OCA1 patients. PMID: 25216246
  21. A meaningful met form of TYR was built by homology modeling. PMID: 24612747
  22. miR-330-5p is a potent negative regulator of TYR, but not of MITF, in pigmented melanoma cells and normal melanocytes PMID: 24862846
  23. Molecular analysis of common polymorphisms within the human Tyrosinase locus and genetic association with pigmentation traits. PMID: 24739399
  24. We report a novel missense substitution in the TYR gene(p.Ile198Thr) in a Pakistani family with oculocutaneous albinism. PMID: 24934919
  25. cAMP-PKA-CREB-activated microphthalmia-associated transcription factor and tyrosinase expression is inhibited by the novel novel adamantyl benzylbenzamide derivative, AP736 PMID: 24107097
  26. High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene. PMID: 24118800
  27. Treatment with an inhibitor of miR-203 downregulated the expression level of TYR in melanoma cells. PMID: 23884313
  28. We examined the association between 12 variants of four pigmentation-related genes (TYR, OCA2, SLC45A2, MC1R) and variations in the melanin index of 456 Japanese females using a multiple regression analysis. PMID: 23165166
  29. A G47D & 1379delTT mutation was seen in 4 members of an oculocutaneous albinism family. An unrelated patient was a compound heterozygote for the G47D & D42N mutations. PMID: 23242301
  30. The results suggested that the miRNAs may be involved in MITF regulation of TYR, TYRP1 and TYRP2, which provides a new clue for understanding the role of miRNAs in melanocyte dysfunctional disease. PMID: 22898827
  31. W400L is the most frequent mutation in oculocutaneous albinism type 1, which accounted for about 30.0% of Chinese mainland patients. PMID: 22097729
  32. Analysis showed that certain mutations can affect the dynamic properties of tyrosinase and can lead to disease conditions, providing a significant insight into the molecular mechanism of oculocutaneous albinism type 1A. PMID: 23085273
  33. DGK regulates melanogenesis via modulation of the posttranslational processing of tyrosinase, which may be related with the protein degradation machinery. PMID: 22895365
  34. Report association between TYR genetic variants and melanoma susceptibilty in southern European patients. PMID: 22464347
  35. By using a population-based material of high-risk melanoma cases, we demonstrate a significant effect of both MC1R red hair color (RHC) variants and an ASIP haplotype, but could not replicate an association with postulated risk SNPs of TYR and TYRP1. PMID: 22447455
  36. The HLA-A-TYR pathways is involved in antigen presentation and risk in generalized vitiligo. PMID: 22402439
  37. study provided new information about a novel mutation, p.I151S, in the TYR gene in a Chinese family with oculocutaneous albinism type PMID: 22088535
  38. Melanoma cells present high levels of HLA-A2-tyrosinase in association with instability and aberrant intracellular processing of tyrosinase. PMID: 22531911
  39. these findings emphasize the role of OTX2 in regulating the human TYR gene, with implications for inter-individual differences in melanin synthesis, retinal development, and function as well as susceptibility to retinal degeneration associated with aging. PMID: 22259223
  40. TYR mutations identified included c.1037-7T>A/c.1037-10delTT, p.D383N, p.R77Q and p.R299H. PMID: 22294196
  41. Three mutational alleles, R278X and R52I of the TYR gene and C229Y of the SLC45A2 gene, are added to the mutational spectra of Korean patients with oculocutaneous albinism (OCA) PMID: 22042571
  42. association of TYR p.R402Q with skin cancer risk in the French population. PMID: 21906913
  43. TYR gene mutations have a more severe effect on pigmentation than mutations in OCA2 and the GPR143 gene. Nevertheless, mutations in these genes affect the development of visual function either directly or by interaction with other genes like MC1R. PMID: 21541274
  44. Data show that Mc1R, HERC2, IRF4, TYR and EXOC2 are ranked highest in hair color prediction analysis. PMID: 21197618
  45. TYR gene mutations represent a relevant cause of oculocutaneous albinism in Italy, whereas mutations in P present a lower frequency. Clinical analysis revealed that the severity of the ocular manifestations depends on the degree of retinal pigmentation. PMID: 20861488
  46. results suggest that an OCA2 gene defect is the second most prevalent type of oculocutaneous albinism in India after TYR & the presence of homozygous mutations in affected pedigrees underscores the lack of intermixing between the affected ethnicities PMID: 20426782
  47. in India, the frequency of OCA1 subtypes is about 61% PMID: 20861851
  48. We have identified five different TYR mutations, including one novel mutation, which caused oculocutaneous albinism type 1 in Chinese. PMID: 20447099
  49. observed associations between generalized vitiligo and markers implicating multiple genes, one (TYR) that may mediate target-cell specificity and indicate a mutually exclusive relationship between susceptibility to vitiligo and susceptibility to melanoma PMID: 20410501
  50. T cell receptor transgenic mice are created that recognize an epitope of the melanocyte protein, tyrosinase. These animals develop vitiligo with strikingly similar characteristics to the human disease. PMID: 20083666
  51. DNA analysis revealed that the patient is a compound heterozygote for mutations in the tyrosinase gene, her genotype confers no apparent cutaneous disease and only mild ocular features. PMID: 20006830
  52. induction of retention in the early secretory pathway by abnormal acidification of melanoma cells PMID: 11812790
  53. We report a novel missense substitution, R239W(CGG --> TGG) of the tyrosinase gene in a patient with tyrosinase-negative OCA. PMID: 11858948
  54. role of P protein and tyrosinase in oculocutaneous albinism PMID: 12028586
  55. Data suggest that maintenance of a chronically hyperpigmented phenotype in chronically photoexposed human skin is the result of a stable increase in the number of tyrosinase positive melanocytes at these sites. PMID: 12519123
  56. Data reveal DCoH/HNF-1 alpha expression and transcriptional activity in human epidermal melanocytes in vitro and in situ and identified tyrosinase, the key enzyme for pigmentation, as a new transcriptional target. PMID: 12565907
  57. We show that TYR has measurable effects on skin pigmentation differences between the west African and west European parental populations PMID: 12579416
  58. This melanoma-associated marker was detected in melanoma cell lines. PMID: 12710945
  59. no mutations in oculocutaneou albinism PMID: 12727022
  60. A candidate gene for pigmentation. PMID: 12817591
  61. Antigen-specific T lymphocyte reactivity to MelanA/MART-1 and tyrosinase peptides was not observed ex vivo in our patients, and only one patient demonstrated responses to MelanA/MART-1 and tyrosinase peptides following in vitro re-stimulation. PMID: 12925214
  62. These results suggest that phosphorylation of tyrosinase by PKC-beta induces a complex formation between tyrosinase and TRP-1. PMID: 14623273
  63. results shows that organellar pH, proteasome activity, and down-regulation of tyrosinase-related protein 1(TYRP1) expression all contribute to the lack of pigmentation in tyrosinase-positive amelanotic melanoma cells PMID: 14634018
  64. DNA variations - mutations and polymorphisms - in about 150 patients with Oculocutaneous albinism PMID: 15146472
  65. IVS2-10deltt-7t-a was present in 3 out of 18 alleles in three families (16%), P310insC was present in three alleles in three families (16%) and R278X was found in three alleles (16%), and G97V (290 G-T) was found in 1 out of 18 alleles PMID: 15381243
  66. Our study reports the distribution of two novel frameshift and a previously reported nonsense mutations in four OCA1 families from the Indian population. PMID: 15635296
  67. Data show that oculocutaneous albinism soluble tyrosinase is an endoplasmic reticulum-associated degradation substrate that, unlike other albino tyrosinases, associates with calreticulin and BiP/GRP78, but not calnexin. PMID: 15677452
  68. Endothelin-1 increased tyrosinase levels in melanocytes but suppressed enzyme activity. PMID: 15838343
  69. fibroblasts in vitro, particularly when deliberately stressed, have the ability to increase dopa oxidase(tyrosinase) activity in melanocytes of the hair, the skin and the eye PMID: 15854130
  70. Sequensce databases contribute to demonstrating novel mutations in tyrosinase of albinism in Indians and Japanese. PMID: 15885985
  71. glycan-specific oxidoreductase ERp57 was cross-linked to type I membrane glycoprotein tyrosinase when calnexin and calreticulin were associated PMID: 15958486
  72. OCA1 in the Tili population is due to the occurrence of a founder mutation in the TYR as indicated by haplotype analysis. Higher prevalence of the mutation in the population group is due to marriage within the same community. PMID: 16056219
  73. the tyrosinase autoantigen was immunorecognized with the same molecular pattern by sera from vitiligo and melanoma patients PMID: 16272362
  74. demonstrated that these cells possess tyrosinase as well as L-tyrosine hydroxylase (TH) activity and synthesize melanosomes PMID: 16447258
  75. Human Placental protein/peptide fraction mediated increase in tyrosinase expression occurred through transcriptional upregulation to stimulate melanogenesis in primary melanocyte. PMID: 16477373
  76. a tyrosinase mutation may have a role in type 1A oculocutaneous albinism (case report) PMID: 16517127
  77. TYR is not a modifier of the CYP1B1-associated PCG (primary congenital glaucoma) phenotype in the Saudi Arabian population. PMID: 16565383
  78. the transmembrane anchor of a protein may crucially, albeit indirectly, control the folding pathway of the ectodomain, as shown with tyrosinase PMID: 16737954
  79. Missense mutations in the tyrosinase gene is asociated with oculocutaneous albinism type 1 PMID: 16907708
  80. No genetic susceptibility or increased risk attributed to the tyrosinase gene family in Vogt-Koyanagi-Harada disease in Japanese. PMID: 17200659
  81. The expression levels of tyrosinase mRNA and protein were also reduced by paeonol. PMID: 17265558
  82. tyrosinase has a role in progression of metastatic melanoma PMID: 17496782
  83. tyrosinase has a role in progression of melanoma PMID: 17496783
  84. tyrosinase and membrane associated transporter protein polymorphisms may have roles in oculocutaneous albinism type 1 and type 4 in the German population PMID: 17516931
  85. data show that chloride ion inhibited tyrosinase in a competitive manner PMID: 17718595
  86. Anemonin, an active compound of C. crassifolia, inhibits melanin synthesis by inhibiting the transcription of the genes encoding TYR, TRP1, and TRP2. PMID: 17766092
  87. analysis of the mammalian tyrosinase active site with loss of function mutations PMID: 17850513
  88. Measurement of Melan-A, gp100, MAGE-3, MIA and tyrosinase represents a prognostic factor and a method for early detection of metastasis and treatment response of melanoma patients. PMID: 18181974
  89. The absence of evidence for projection abnormalities in human OCA1a carriers contrasts with the previously reported evidence for abnormalities in cat-carriers of tyrosinase-related albinism. PMID: 18296661
  90. Most patients with AROA (autosomal recessive ocular albinism) represent phenotypically mild variants of oculocutaneous albinism , well over half of which is OCA1. PMID: 18326704
  91. Tyrosinase-, gp100-, or TRP-2-specific CD8(+) T cells could not be identified in the peripheral blood of individuals with vitiligo. PMID: 18337837
  92. alpha-synuclein reacts with tyrosinase and may have a role in Parkinson disease PMID: 18390556
  93. Results describe the molecular detection of circulating melanoma cells by reverse transcription-polymerase chain reaction (RT-PCR) in human blood samples and in a xenograft mouse model. PMID: 18425346
  94. plays a critical role in regulation of melanogenesis. PMID: 18457359
  95. activation of p38 MAPK plays an important role in LPS-induced melanogenesis by up-regulating MITF and tyrosinase expression PMID: 18478240
  96. ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma. PMID: 18488027
  97. Four novel mutations of tyrosinase (TYR) gene have been reported in Chinese oculocutaneous albinism patients. PMID: 18701257
  98. tyrosinase overexpression promotes an ataxia telangiectasia mutated-dependent p53 phosphorylation by quercetin treatment and sensitizes melanoma cells to dacarbazine. PMID: 18791269
  99. Results describe a series of new mutations in the OCA genes, and their role in the molecular diagnosis of oculocutaneous albinism PMID: 18821858
  100. Elevated serum tyrosinase is associated with malignant melanoma. PMID: 18845991

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Involvement in disease Albinism, oculocutaneous, 1A (OCA1A); Albinism, oculocutaneous, 1B (OCA1B)
Subcellular Location Melanosome membrane, Single-pass type I membrane protein, Melanosome
Protein Families Tyrosinase family
Database Links

HGNC: 12442

OMIM: 103470

KEGG: hsa:7299

STRING: 9606.ENSP00000263321

UniGene: Hs.503555

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