Property Summary

NCBI Gene PubMed Count 180
Grant Count 773
R01 Count 232
Funding $493,597,673.13
PubMed Score 1897.32
PubTator Score 2933.65

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis 1.300 0.001

Synonym

Accession P14679 Q15675 Q15676 Q15680 Q8TAK4 Q9BYY0 Q9BZX1
Symbols ATN
CMM8
OCA1
OCA1A
OCAIA
SHEP3

Gene

TYR

Gene RIF (123)

PMID Text
26663053 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.
26580798 LEF-1 and MITF regulate tyrosinase gene transcription in vitro via binding to its promoter.
26167114 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.
25919014 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.
25724930 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.
25703744 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
25687215 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.
25577957 Identification of four novel TYR mutations in a Chinese Han population with Oculocutaneous albinism 1.
25455140 11/11 individuals with homozygous or compound heterozygous mutations in TYR, have no discernible pigmentation in hair, skin and eyes
25216246 Two new pathogenic p.C89S and p.H180R mutations in TYR were detected in two OCA1 patients.
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AA Sequence

MLLAVLYCLLWSFQTSAGHFPRACVSSKNLMEKECCPPWSGDRSPCGQLSGRGSCQNILLSNAPLGPQFP      1 - 70
FTGVDDRESWPSVFYNRTCQCSGNFMGFNCGNCKFGFWGPNCTERRLLVRRNIFDLSAPEKDKFFAYLTL     71 - 140
AKHTISSDYVIPIGTYGQMKNGSTPMFNDINIYDLFVWMHYYVSMDALLGGSEIWRDIDFAHEAPAFLPW    141 - 210
HRLFLLRWEQEIQKLTGDENFTIPYWDWRDAEKCDICTDEYMGGQHPTNPNLLSPASFFSSWQIVCSRLE    211 - 280
EYNSHQSLCNGTPEGPLRRNPGNHDKSRTPRLPSSADVEFCLSLTQYESGSMDKAANFSFRNTLEGFASP    281 - 350
LTGIADASQSSMHNALHIYMNGTMSQVQGSANDPIFLLHHAFVDSIFEQWLRRHRPLQEVYPEANAPIGH    351 - 420
NRESYMVPFIPLYRNGDFFISSKDLGYDYSYLQDSDPDSFQDYIKSYLEQASRIWSWLLGAAMVGAVLTA    421 - 490
LLAGLVSLLCRHKRKQLPEEKQPLLMEKEDYHSLYQSHL                                   491 - 529
//

Text Mined References (182)

PMID Year Title
26663053 2015 [Analysis of nuclear localization and signal function of MITF protein predisposing to Warrdenburg syndrome].
26580798 2015 LEF-1 Regulates Tyrosinase Gene Transcription In Vitro.
26167114 2015 Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.
25919014 2015 Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.
25724930 2015 IRF4, MC1R and TYR genes are risk factors for actinic keratosis independent of skin color.
25703744 2015 Mutational spectrum of the TYR and SLC45A2 genes in Pakistani families with oculocutaneous albinism, and potential founder effect of missense substitution (p.Arg77Gln) of tyrosinase.
25687215 2015 Combined Occurrence of Autosomal Dominant Aniridia and Autosomal Recessive Albinism in Several Members of a Family.
25577957 2014 Tyrosinase gene mutations in the Chinese Han population with OCA1.
25455140 2014 Oculocutaneous albinism (OCA) in Colombia: first molecular screening of the TYR and OCA2 genes in South America.
25216246 2014 Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).
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