Property Summary

NCBI Gene PubMed Count 76
PubMed Score 843.95
PubTator Score 232.68

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Disease log2 FC p
malignant mesothelioma -1.800 4.8e-06
astrocytic glioma -1.900 8.0e-03
ependymoma -2.000 1.5e-02
oligodendroglioma -2.000 6.9e-03
cutaneous lupus erythematosus -3.700 1.7e-02
psoriasis 1.600 9.0e-03
glioblastoma -1.400 7.2e-04
primitive neuroectodermal tumor -1.700 3.6e-04
non-small cell lung cancer -1.646 1.7e-17
intraductal papillary-mucinous adenoma (... -1.100 7.3e-03
lung adenocarcinoma -1.100 2.3e-05

 CSPA Cell Line (2)

Protein-protein Interaction (1)

Gene RIF (50)

PMID Text
26252096 Mutation in TYRP1 is associated with oculocutaneous albinism.
26068396 Polymorphisms in 3'UTR of TYRP1 mRNA can affect TYRP1 mRNA regulation by miR-155 and its subsequent translation into protein. These SNPs can render TYRP1 mRNA and protein expression nonsusceptible to miR-155 activity
25837821 Single nucleotide polymorphisms in TYRP1 gene is associated with multiple primary melanoma.
25240771 These data suggest that UVB-stimulated Ucn1 contributes to TRP1 production via the transcription of both Nurr-1 and Nur77. Ucn1, produced in melanoma cells, acts on melanoma cells themselves in an autocrine manner.
25054620 These data indicate that galectin-3 is a regulatory component in melanin synthesis affecting the expression of Tyrp-1.
24475287 p53 regulation by TRP2 is not pervasive in melanoma.
23862152 Due to mutation in Tyrp1 protein, it became more rigid and might disturb the structural conformation and catalytic function of the structure and might also play a significant role in inducing oculocutaneous albinism type III.
23519055 High TYRP1/S100B mRNA expression in lymph node metastases from melanoma patients is associated with unfavourable clinical outcome.
23416839 in human melanoma HMV-II cells both CRF and Ucn1 regulate TRP1 gene expression via Nurr-1/Nur77 production, independent of pro-opiomelanocortin or alpha-melanocyte-stimulating hormone stimulation.
23190901 We report four Pakistani albinism mutations, including three SLC45A2 alleles and one 22-nucleotide deletion in TYRP1.
22898827 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.
22556244 identifed an arginine-to-cysteine change at a highly conserved residue in TYRP1 as a major determinant of blond hair in Solomon Islanders; this missense mutation predicted to affect catalytic activity of TYRP1 and causes blond hair through a recessive mode of inheritance
22447455 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.
22190034 HIV-1 Pol is identified to have a physical interaction with tyrosinase-related protein 1 (TYRP1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses
22045183 We used the first ranked gene, tyrosinase-related protein 1 (TYRP1), further measured its expression in the validation population by real-time PCR and found it to be significantly correlated with distant metastasis-free survival.
21996312 Case Report: Report a Japanese girl with oculocutaneous albinism type 3 and novel mutations in TYRP1 gene.
21739261 two novel mutations in TYRP1 gene in two Chinese patients with oculocutaneous albinism type 3
21324755 This review focuses on TYRP1, a melanosomal protein involved in the pigmentary machinery of the melanocyte and often used as differentiation marker, with a special emphasis on its emerging roles in the malignant melanocyte and melanoma progression.
21291857 interactions between TRP1-GIPC and GIPC-APPL-AKT provide a potential link between melanogenesis and PI3 kinase signaling
20861488 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.
20668223 Adoptive transfer of TRP1-specific T cells into -expressing recipients produces large confluent patches of vitiligo and ocular damage in TRP1-specific T cell receptor transgenic mice.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20585627 Observational study of gene-disease association. (HuGE Navigator)
20221248 Observational study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19865097 Observational study of gene-disease association. (HuGE Navigator)
19710684 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19384953 TYRP1 rs1408799 is associated with melanoma.
19384953 Observational study of gene-disease association. (HuGE Navigator)
19287070 Both TRP-1 and galectin-1 were highly expressed in normal melanocytes and melanoma. There was no correlation between TRP-1 or galectin-1 expression and survival.
19240061 Observational study of gene-disease association. (HuGE Navigator)
19060277 TYR is the major OCA (oculocutaneous albinism) gene in Denmark, but several patients do not have mutations in the investigated genes.
19060277 Observational study of gene-disease association. (HuGE Navigator)
18680187 Mutation of TYRP1 (OCA3) can modify the OCA2 phenotype, resulting in red hair.
18563784 Observational study of gene-disease association. (HuGE Navigator)
18488027 An eye color variant in TYRP1 was associated with risk of cutaneous melanoma.
18488027 Observational study of gene-disease association. (HuGE Navigator)
18463683 Observational study of gene-disease association. (HuGE Navigator)
18326704 Most patients with AROA (autosomal recessive ocular albinism) represent phenotypically mild variants of oculocutaneous albinism , well over half of which is OCA1.
18312627 We observe strong evidence for positive selection for TYRP1 alleles in Africans and in Asians
17766092 Anemonin, an active compound of C. crassifolia, inhibits melanin synthesis by inhibiting the transcription of the genes encoding TYR, TRP1, and TRP2.
17200659 No genetic susceptibility or increased risk attributed to the tyrosinase gene family in Vogt-Koyanagi-Harada disease in Japanese.
17071589 Melanocytes in vitiligo demonstrate reduced ability to withstand oxidative stress due, partly, to a disruption in microphthalmia-associated transcription factor regulation of Tyrp1.
16934245 The presence of a distal Tyrp1 regulatory element, which specifies melanocyte-specific expression, supports the idea that separate regulatory sequences can mediate differential gene expression in melanocytes and RPE.
15996218 We have identified the first TYRP1 mutation in non-Africans and have confirmed that TYRP1 mutations are associated with a milder phenotype of oculocutaneous albinism.
14634018 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
14623273 These results suggest that phosphorylation of tyrosinase by PKC-beta induces a complex formation between tyrosinase and TRP-1.
12519123 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.
12011806 DNA sequence variants in the human TYRP1 gene are not associated with inherited pigmentary glaucoma in humans.
11775055 Tyrp1 is involved in maintaining stability of tyrosinase protein and modulating its catalytic activity. Tyrp1 is also involved in maintenance of melanosome ultrastructure and affects melanocyte proliferation and melanocyte cell death.

AA Sequence

MSAPKLLSLGCIFFPLLLFQQARAQFPRQCATVEALRSGMCCPDLSPVSGPGTDRCGSSSGRGRCEAVTA      1 - 70
DSRPHSPQYPHDGRDDREVWPLRFFNRTCHCNGNFSGHNCGTCRPGWRGAACDQRVLIVRRNLLDLSKEE     71 - 140
KNHFVRALDMAKRTTHPLFVIATRRSEEILGPDGNTPQFENISIYNYFVWTHYYSVKKTFLGVGQESFGE    141 - 210
VDFSHEGPAFLTWHRYHLLRLEKDMQEMLQEPSFSLPYWNFATGKNVCDICTDDLMGSRSNFDSTLISPN    211 - 280
SVFSQWRVVCDSLEDYDTLGTLCNSTEDGPIRRNPAGNVARPMVQRLPEPQDVAQCLEVGLFDTPPFYSN    281 - 350
STNSFRNTVEGYSDPTGKYDPAVRSLHNLAHLFLNGTGGQTHLSPNDPIFVLLHTFTDAVFDEWLRRYNA    351 - 420
DISTFPLENAPIGHNRQYNMVPFWPPVTNTEMFVTAPDNLGYTYEIQWPSREFSVPEIIAIAVVGALLLV    421 - 490
ALIFGTASYLIRARRSMDEANQPLLTDQYQCYAEEYEKLQNPNQSVV                           491 - 537
//

Text Mined References (77)

PMID Year Title
26252096 2015 [Suspected pathogenic mutation identified in two cases with oculocutaneous albinism].
26068396 2015 SNPs at miR-155 binding sites of TYRP1 explain discrepancy between mRNA and protein and refine TYRP1 prognostic value in melanoma.
25837821 2015 Inherited genetic variants associated with occurrence of multiple primary melanoma.
25240771 2014 Ultraviolet B radiation-stimulated urocortin 1 is involved in tyrosinase-related protein 1 production in human melanoma HMV-II cells.
25054620 2015 Melanocytic galectin-3 is associated with tyrosinase-related protein-1 and pigment biosynthesis.
24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
24475287 2014 p53 regulation by TRP2 is not pervasive in melanoma.
23862152 2013 In silico screening and molecular dynamics simulation of disease-associated nsSNP in TYRP1 gene and its structural consequences in OCA3.
23548203 2013 Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
23519055 2013 Tyrosinase-related protein 1 mRNA expression in lymph node metastases predicts overall survival in high-risk melanoma patients.
23504663 2013 DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.
23416839 2013 Involvement of Nurr-1/Nur77 in corticotropin-releasing factor/urocortin1-induced tyrosinase-related protein 1 gene transcription in human melanoma HMV-II cells.
23190901 2013 Genetic studies of TYRP1 and SLC45A2 in Pakistani patients with nonsyndromic oculocutaneous albinism.
22898827 2012 The changes of microRNA expression profiles and tyrosinase related proteins in MITF knocked down melanocytes.
22556244 2012 Melanesian blond hair is caused by an amino acid change in TYRP1.
22447455 2012 MC1R, ASIP, TYR, and TYRP1 gene variants in a population-based series of multiple primary melanomas.
22045183 2011 TYRP1 mRNA expression in melanoma metastases correlates with clinical outcome.
21996312 2011 Oculocutaneous albinism type 3: a Japanese girl with novel mutations in TYRP1 gene.
21739261 2011 Oculocutaneous albinism type 3 (OCA3): analysis of two novel mutations in TYRP1 gene in two Chinese patients.
21324755 2011 Tyrosinase related protein 1 (TYRP1/gp75) in human cutaneous melanoma.
21291857 2011 Interactions between GIPC-APPL and GIPC-TRP1 regulate melanosomal protein trafficking and melanogenesis in human melanocytes.
20861488 2011 Molecular and clinical characterization of albinism in a large cohort of Italian patients.
20668223 2010 GILT accelerates autoimmunity to the melanoma antigen tyrosinase-related protein 1.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20585627 2010 Web-based, participant-driven studies yield novel genetic associations for common traits.
20221248 2010 Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: further evidence of convergent evolution of skin pigmentation.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19865097 2010 A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.
19841138 2009 AP-1 and KIF13A coordinate endosomal sorting and positioning during melanosome biogenesis.
19710684 2010 Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma.
19384953 2009 Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians.
19287070 The protein expression of TRP-1 and galectin-1 in cutaneous malignant melanomas.
19240061 2009 Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
19060277 2009 Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.
18680187 2008 Synergistic interaction of the OCA2 and OCA3 genes in a family.
18563784 2008 SLC45A2: a novel malignant melanoma-associated gene.
18488028 2008 Two newly identified genetic determinants of pigmentation in Europeans.
18488027 2008 ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma.
18463683 2008 Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.
18326704 2008 A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.
18312627 2008 Complex signatures of selection for the melanogenic loci TYR, TYRP1 and DCT in humans.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17766092 2008 Anemonin is a natural bioactive compound that can regulate tyrosinase-related proteins and mRNA in human melanocytes.
17200659 2006 Tyrosinase gene family and Vogt-Koyanagi-Harada disease in Japanese patients.
17081065 2006 Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes.
17071589 2006 A role for tyrosinase-related protein 1 in 4-tert-butylphenol-induced toxicity in melanocytes: Implications for vitiligo.
16934245 2006 A conserved transcriptional enhancer that specifies Tyrp1 expression to melanocytes.
16704458 2006 Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15996218 2005 Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14634018 2004 Regulation of tyrosinase processing and trafficking by organellar pH and by proteasome activity.
14623273 2003 Protein kinase C-beta-mediated complex formation between tyrosinase and TRP-1.
12766061 2003 Gene expression profile of the human trabecular meshwork: NEIBank sequence tag analysis.
12643545 Proteomic analysis of early melanosomes: identification of novel melanosomal proteins.
12519123 2003 Ethnic variation in tyrosinase and TYRP1 expression in photoexposed and photoprotected human skin.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11441007 2001 PDZ domain protein GIPC interacts with the cytoplasmic tail of melanosomal membrane protein gp75 (tyrosinase-related protein-1).
10952393 2000 Melanocyte subpopulation turnover during the human hair cycle: an immunohistochemical study.
9872531 1998 Dedifferentiation of the retinal pigment epithelium compared to the proliferative membranes of proliferative vitreoretinopathy.
9447965 1998 Different cis-acting elements are involved in the regulation of TRP1 and TRP2 promoter activities by cyclic AMP: pivotal role of M boxes (GTCATGTGCT) and of microphthalmia.
9434945 1998 Complete sequence and polymorphism study of the human TYRP1 gene encoding tyrosinase-related protein 1.
9345097 1997 Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene.
8651291 1996 Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3".
8530077 1995 Chromosomal structure of the human TYRP1 and TYRP2 loci and comparison of the tyrosinase-related protein gene family.
8040609 1994 High-molecular-weight forms of tyrosinase and the tyrosinase-related proteins: evidence for a melanogenic complex.
7881448 1994 Dinucleotide repeat polymorphism at the human TYRP1 locus.
2324688 1990 The melanoma antigen gp75 is the human homologue of the mouse b (brown) locus gene product.
2111010 1990 Nucleotide sequence of the cDNA encoding human tyrosinase-related protein.
1945866 1991 Human tyrosinase-like protein (TYRL) carboxy terminus: closer homology with the mouse protein than previously reported.
1906272 1991 Mapping the human CAS2 gene, the homologue of the mouse brown (b) locus, to human chromosome 9p22-pter.
1769662 1991 The human homolog of the mouse brown gene maps to the short arm of chromosome 9 and extends the known region of homology with mouse chromosome 4.
1693779 1990 Murine and human b locus pigmentation genes encode a glycoprotein (gp75) with catalase activity.
1673236 1991 A two allele XbaI RFLP at the catalase 2 locus.
1577487 1992 Assignment of the human TYRP (brown) locus to chromosome region 9p23 by nonradioactive in situ hybridization.
1575733 1992 Downstream region of the human tyrosinase-related protein gene enhances its promoter activity.
1321344 1992 Positive and negative elements regulate a melanocyte-specific promoter.