TYR (tyrosinase)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 7299
Gene name Tyrosinase
Gene symbol TYR
Synonyms (NCBI Gene)
ATNCMM8OCA1OCA1AOCAIASHEP3
Chromosome 11
Chromosome location 11q14.3
Summary 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. Mutati
SNPs SNP information provided by dbSNP.
5
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (5)
SNP ID Visualize variation Clinical significance Consequence
rs61754399 ->T Pathogenic Coding sequence variant, frameshift variant, genic downstream transcript variant, downstream transcript variant
rs281865328 ->C Pathogenic, not-provided Coding sequence variant, frameshift variant, genic downstream transcript variant, downstream transcript variant
rs1402167763 GGTCATGGCT>- Likely-pathogenic Coding sequence variant, frameshift variant, 3 prime UTR variant
rs1555100853 ->T Likely-pathogenic Coding sequence variant, stop gained, 3 prime UTR variant
rs1590909462 G>- Pathogenic Coding sequence variant, frameshift variant, genic downstream transcript variant, downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
11
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT733673 hsa-miR-1291 Luciferase reporter assayqRT-PCRWestern blotting 33318297
MIRT733673 hsa-miR-1291 Luciferase reporter assayqRT-PCRWestern blotting 33318297
MIRT1465650 hsa-miR-3154 CLIP-seq
MIRT1465651 hsa-miR-3179 CLIP-seq
MIRT2462696 hsa-miR-3120-3p CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
5
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
MITF Activation 10080955;12034359;23872139
MITF Unknown 10587587;12136092;18424413;21910056;22259223;9158138
OTX2 Activation 22259223
SOX9 Unknown 17702866
TFEB Unknown 10707962
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0004497 Function Monooxygenase activity IEA
GO:0004503 Function Tyrosinase activity IBA
GO:0004503 Function Tyrosinase activity IDA 11092760
GO:0004503 Function Tyrosinase activity IEA
GO:0005507 Function Copper ion binding IMP 11092760
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606933 12442 ENSG00000077498
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P14679
Protein name Tyrosinase (EC 1.14.18.1) (LB24-AB) (Monophenol monooxygenase) (SK29-AB) (Tumor rejection antigen AB)
Protein 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 tyrosi
PDB 7RK7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00264 Tyrosinase 170 → 403 Common central domain of tyrosinase Domain
Sequence 
MLLAVLYCLLWSFQTSAGHFPRACVSSKNLMEKECCPPWSGDRSPCGQLSGRGSCQNILL
SNAPLGPQFPFTGVDDRESWPSVFYNRTCQCSGNFMGFNCGNCKFGFWGPNCTERRLLVR
RNIFDLSAPEKDKFFAYLTLAKHTISSDYVIPIGTYGQMKNGSTPMFNDINIYDLFVWMH
YYVSMDALLGGSEIWRDIDFAHEAPAFLPWHRLFLLRWEQEIQKLTGDENFTIPYWDWRD
AEKCDICTDEYMGGQHPTNPNLLSPASFFSSWQIVCSRLEEYNSHQSLCNGTPEGPLRRN
PGNHDKSRTPRLPSSADVEFCLSLTQYESGSMDKAANFSFRNTLEGFASPLTGIADASQS
SMHNALHIYMNGTMSQVQGSANDPIFLLHHAFVDSIFEQWLRRHRPLQEVYPEANAPIGH
NRESYMVPFIPLYRNGDFFISSKDLGYDYSYLQDSDPDSFQDYIKSYLEQASRIWSWLLG
AAMVGAVLTALLAGLVSLLCRHKRKQLPEEKQPLLMEKEDYHSLYQSHL
Sequence length 529
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Tyrosine metabolism
Metabolic pathways
Melanogenesis 		  Melanin biosynthesis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
921
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (21)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormality of the eye Pathogenic rs773970123 RCV000504775
Abnormality of the skin Likely pathogenic; Pathogenic rs61754381, rs62645917, rs2135253415, rs61753190, rs28940881, rs773970123 RCV001814058
RCV001814059
RCV001814538
RCV001813947
RCV001836693
RCV001814229
Albinism Likely pathogenic; Pathogenic rs61754381, rs28940876, rs28940881 RCV000626672
RCV000505170
RCV000626676
Albinism or congenital nystagmus Likely pathogenic; Pathogenic rs61754381, rs62645917, rs61754362, rs104894314, rs61753185, rs61754392, rs28940881 RCV004782056
RCV004782234
RCV004782235
RCV005252663
RCV005252664
RCV005416024
RCV005646758
Show/Hide Unknown Diseases (11)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs796051879 -
Autosomal recessive ocular albinism Conflicting classifications of pathogenicity; other rs1126809 RCV000721172
Congenital nystagmus Conflicting classifications of pathogenicity rs62645908 RCV004998225
Familial cancer of breast Conflicting classifications of pathogenicity rs61754398 RCV005887721
Show/Hide Text Mining Associations (68)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
46 XY female Associate 1910093
Albinism Associate 14685142, 1910093, 21541274, 24392141, 27640074, 27775880, 35488210, 35803923, 35933957, 37460203, 38232104, 39349469, 6770679
Albinism Ocular Associate 21541274, 26167114, 28667292
Albinism Oculocutaneous Associate 10321549, 10766867, 11179026, 1429711, 14961451, 15451, 16056219, 16417222, 1676041, 1711223, 1832718, 1899321, 1900307, 1903591, 1905879
View all (35 more)
Albinism Oculocutaneous Type I Temperature Sensitive Associate 1900309
Angiomyolipoma Associate 11371226, 11800647
Autoimmune Diseases Stimulate 28630054
Brain Neoplasms Associate 35018490
Central Nervous System Neoplasms Associate 29428974
Cryptophthalmos Unilateral or Bilateral Isolated Associate 10321549