| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 7299 |
Name | TYR |
Synonym | ATN|CMM8|OCA1|OCA1A|OCAIA|SHEP3;tyrosinase;TYR;tyrosinase |
Definition | LB24-AB|SK29-AB|monophenol monooxygenase|oculocutaneous albinism IA|tumor rejection antigen AB |
Position | 11q14.3 |
Gene Type | protein-coding |
Pathways and Diseases | |
Pathway | Tyrosine metabolism;KEGG PATHWAY;hsa00350 |
Pathway | Riboflavin metabolism;KEGG PATHWAY;hsa00740 |
Pathway | Melanogenesis;KEGG PATHWAY;hsa04916 |
Pathway | Metabolic pathways;KEGG PATHWAY;hsa01100 |
Pathway | L-dopachrome biosynthesis;BioCyc;PWY-6481 |
Disease | Vitiligo;NHGRI |
Disease | type IB (yellow) oculocutaneous albinism;GAD |
Disease | Tanning;NHGRI |
Disease | ocular albinism;GAD |
Disease | DEVELOPMENTAL;GAD |
Disease | Neoplasm metastasis;FunDO |
Disease | Glaucoma;FunDO |
Disease | temperature-sensitive enzymatic activity;GAD |
Disease | tanning;GAD |
Disease | Skin pigmentation;NHGRI |
Disease | VISION;GAD |
Disease | Parkinson disease;FunDO |
Disease | Skin/hair/eye pigmentation 3, freckling;OMIM |
Disease | Melanoma;NHGRI |
Disease | type I-A (tyrosinase-negative) oculocutaneous albinism;GAD |
Disease | skin sensitivity to sun;GAD |
Disease | Eye color;NHGRI |
Disease | Waardenburg syndrome/albinism, digenic;OMIM |
Disease | freckles;GAD |
Disease | Uveomeningoencephalitic syndrome;FunDO |
Disease | Genetic disorders;KEGG DISEASE |
Disease | Blue vs green eyes;GAD |
Disease | skin pigmentation;GAD |
Disease | Albinism, oculocutaneous, type IA;OMIM |
Disease | CANCER;GAD |
Disease | melanoma;GAD |
Disease | NORMALVARIATION;GAD |
Disease | full-length deletion of the tyrosinase gene;GAD |
Disease | Freckles;NHGRI |
Disease | Skin sensitivity to sun;NHGRI |
Disease | Inherited disorders of amino acid metabolism;KEGG DISEASE |
Disease | Skin disease;FunDO |
Disease | Congenital abnormality;FunDO |
Disease | Oculocutaneous albinism;KEGG DISEASE;H00168 |
Disease | Blue vs. green eyes;NHGRI |
Disease | Albinism, oculocutaneous, type IB;OMIM |
External Links | |
Links to Entrez Gene | 7299 |
Links to all GeneRIF Items | 7299 |
Links to iHOP | 7299 |
Sequence Information | |
Nucleotide Sequence | >7299 : length: 2082 ATCACTGTAGTAGTAGCTGGAAAGAGAAATCTGTGACTCCAATTAGCCAGTTCCTGCAGA CCTTGTGAGGACTAGAGGAAGAATGCTCCTGGCTGTTTTGTACTGCCTGCTGTGGAGTTT CCAGACCTCCGCTGGCCATTTCCCTAGAGCCTGTGTCTCCTCTAAGAACCTGATGGAGAA GGAATGCTGTCCACCGTGGAGCGGGGACAGGAGTCCCTGTGGCCAGCTTTCAGGCAGAGG TTCCTGTCAGAATATCCTTCTGTCCAATGCACCACTTGGGCCTCAATTTCCCTTCACAGG GGTGGATGACCGGGAGTCGTGGCCTTCCGTCTTTTATAATAGGACCTGCCAGTGCTCTGG CAACTTCATGGGATTCAACTGTGGAAACTGCAAGTTTGGCTTTTGGGGACCAAACTGCAC AGAGAGACGACTCTTGGTGAGAAGAAACATCTTCGATTTGAGTGCCCCAGAGAAGGACAA ATTTTTTGCCTACCTCACTTTAGCAAAGCATACCATCAGCTCAGACTATGTCATCCCCAT AGGGACCTATGGCCAAATGAAAAATGGATCAACACCCATGTTTAACGACATCAATATTTA TGACCTCTTTGTCTGGATGCATTATTATGTGTCAATGGATGCACTGCTTGGGGGATCTGA AATCTGGAGAGACATTGATTTTGCCCATGAAGCACCAGCTTTTCTGCCTTGGCATAGACT CTTCTTGTTGCGGTGGGAACAAGAAATCCAGAAGCTGACAGGAGATGAAAACTTCACTAT TCCATATTGGGACTGGCGGGATGCAGAAAAGTGTGACATTTGCACAGATGAGTACATGGG AGGTCAGCACCCCACAAATCCTAACTTACTCAGCCCAGCATCATTCTTCTCCTCTTGGCA GATTGTCTGTAGCCGATTGGAGGAGTACAACAGCCATCAGTCTTTATGCAATGGAACGCC CGAGGGACCTTTACGGCGTAATCCTGGAAACCATGACAAATCCAGAACCCCAAGGCTCCC CTCTTCAGCTGATGTAGAATTTTGCCTGAGTTTGACCCAATATGAATCTGGTTCCATGGA TAAAGCTGCCAATTTCAGCTTTAGAAATACACTGGAAGGATTTGCTAGTCCACTTACTGG GATAGCGGATGCCTCTCAAAGCAGCATGCACAATGCCTTGCACATCTATATGAATGGAAC AATGTCCCAGGTACAGGGATCTGCCAACGATCCTATCTTCCTTCTTCACCATGCATTTGT TGACAGTATTTTTGAGCAGTGGCTCCGAAGGCACCGTCCTCTTCAAGAAGTTTATCCAGA AGCCAATGCACCCATTGGACATAACCGGGAATCCTACATGGTTCCTTTTATACCACTGTA CAGAAATGGTGATTTCTTTATTTCATCCAAAGATCTGGGCTATGACTATAGCTATCTACA AGATTCAGACCCAGACTCTTTTCAAGACTACATTAAGTCCTATTTGGAACAAGCGAGTCG GATCTGGTCATGGCTCCTTGGGGCGGCGATGGTAGGGGCCGTCCTCACTGCCCTGCTGGC AGGGCTTGTGAGCTTGCTGTGTCGTCACAAGAGAAAGCAGCTTCCTGAAGAAAAGCAGCC ACTCCTCATGGAGAAAGAGGATTACCACAGCTTGTATCAGAGCCATTTATAAAAGGCTTA GGCAATAGAGTAGGGCCAAAAAGCCTGACCTCACTCTAACTCAAAGTAATGTCCAGGTTC CCAGAGAATATCTGCTGGTATTTTTCTGTAAAGACCATTTGCAAAATTGTAACCTAATAC AAAGTGTAGCCTTCTTCCAACTCAGGTAGAACACACCTGTCTTTGTCTTGCTGTTTTCAC TCAGCCCTTTTAACATTTTCCCCTAAGCCCATATGTCTAAGGAAAGGATGCTATTTGGTA ATGAGGAACTGTTATTTGTATGTGAATTAAAGTGCTCTTATTTTAAAAAATTGAAATAAT TTTGATTTTTGCCTTCTGATTATTTAAAGATCTATATATGTTTTATTGGCCCCTTCTTTA TTTTAATAAAACAGTGAGAAATCTAAAAAAAAAAAAAAAAAA |
Protein Sequence | >7299 : length: 529 MLLAVLYCLLWSFQTSAGHFPRACVSSKNLMEKECCPPWSGDRSPCGQLSGRGSCQNILL SNAPLGPQFPFTGVDDRESWPSVFYNRTCQCSGNFMGFNCGNCKFGFWGPNCTERRLLVR RNIFDLSAPEKDKFFAYLTLAKHTISSDYVIPIGTYGQMKNGSTPMFNDINIYDLFVWMH YYVSMDALLGGSEIWRDIDFAHEAPAFLPWHRLFLLRWEQEIQKLTGDENFTIPYWDWRD AEKCDICTDEYMGGQHPTNPNLLSPASFFSSWQIVCSRLEEYNSHQSLCNGTPEGPLRRN PGNHDKSRTPRLPSSADVEFCLSLTQYESGSMDKAANFSFRNTLEGFASPLTGIADASQS SMHNALHIYMNGTMSQVQGSANDPIFLLHHAFVDSIFEQWLRRHRPLQEVYPEANAPIGH NRESYMVPFIPLYRNGDFFISSKDLGYDYSYLQDSDPDSFQDYIKSYLEQASRIWSWLLG AAMVGAVLTALLAGLVSLLCRHKRKQLPEEKQPLLMEKEDYHSLYQSHL |