• Gene id: 7299

Gene Summary

• Gene Symbol: TYR   Gene   UCSC   Ensembl
• Aliases: ATN, CMM8, OCA1, OCA1A, OCAIA, SHEP3
• Gene name: tyrosinase
• Alternate names: tyrosinase, LB24-AB, SK29-AB, monophenol monooxygenase, oculocutaneous albinism IA, tumor rejection antigen AB,
• Gene location: 11q14.3 (89177564: 89295758)     Exons: 16     NC_000011.10
• Gene summary(Entrez): 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
• OMIM: 606933

Protein Summary

• Protein general information: P14679  
  • Name: Tyrosinase (EC 1.14.18.1) (LB24 AB) (Monophenol monooxygenase) (SK29 AB) (Tumor rejection antigen AB)
  • Length: 529  
  • Mass: 60393
• Sequence:

  MLLAVLYCLLWSFQTSAGHFPRACVSSKNLMEKECCPPWSGDRSPCGQLSGRGSCQNILLSNAPLGPQFPFTGVD
  DRESWPSVFYNRTCQCSGNFMGFNCGNCKFGFWGPNCTERRLLVRRNIFDLSAPEKDKFFAYLTLAKHTISSDYV
  IPIGTYGQMKNGSTPMFNDINIYDLFVWMHYYVSMDALLGGSEIWRDIDFAHEAPAFLPWHRLFLLRWEQEIQKL
  TGDENFTIPYWDWRDAEKCDICTDEYMGGQHPTNPNLLSPASFFSSWQIVCSRLEEYNSHQSLCNGTPEGPLRRN
  PGNHDKSRTPRLPSSADVEFCLSLTQYESGSMDKAANFSFRNTLEGFASPLTGIADASQSSMHNALHIYMNGTMS
  QVQGSANDPIFLLHHAFVDSIFEQWLRRHRPLQEVYPEANAPIGHNRESYMVPFIPLYRNGDFFISSKDLGYDYS
  YLQDSDPDSFQDYIKSYLEQASRIWSWLLGAAMVGAVLTALLAGLVSLLCRHKRKQLPEEKQPLLMEKEDYHSLY
  QSHL

• Structural information:
  • Interpro: IPR002227  IPR008922  
  • Prosite: PS00497 PS00498
  • STRING: ENSP00000263321
• Other Databases: GeneCards:  TYR  Malacards:  TYR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042438	melanin biosynthetic process	IDA	biological process
GO:0004503	monophenol monooxygenase activity	IBA	molecular function
GO:0043473	pigmentation	IBA	biological process
GO:0042438	melanin biosynthetic process	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0042438	melanin biosynthetic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006583	melanin biosynthetic process from tyrosine	TAS	biological process
GO:0006726	eye pigment biosynthetic process	TAS	biological process
GO:0005798	Golgi-associated vesicle	TAS	cellular component
GO:0007601	visual perception	TAS	biological process
GO:0004503	monophenol monooxygenase activity	IEA	molecular function
GO:0033162	melanosome membrane	TAS	cellular component
GO:0033162	melanosome membrane	TAS	cellular component
GO:0033162	melanosome membrane	TAS	cellular component
GO:0042438	melanin biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0048538	thymus development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0009411	response to UV	IEA	biological process
GO:0033280	response to vitamin D	IEA	biological process
GO:0043473	pigmentation	IEA	biological process
GO:0051591	response to cAMP	IEA	biological process
GO:0008283	cell population proliferation	IEA	biological process
GO:0042438	melanin biosynthetic process	IEA	biological process
GO:0042470	melanosome	IEA	cellular component
GO:0042802	identical protein binding	IEA	molecular function
GO:0043473	pigmentation	IEA	biological process
GO:0033162	melanosome membrane	IEA	cellular component
GO:0042470	melanosome	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0004503	monophenol monooxygenase activity	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0042803	protein homodimerization activity	ISS	molecular function
GO:0005764	lysosome	TAS	cellular component
GO:0005507	copper ion binding	IMP	molecular function
GO:0042470	melanosome	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04916	Melanogenesis
hsa00350	Tyrosine metabolism

Diseases

Associated diseases	References
Oculocutaneous albinism	KEGG:H00168
Oculocutaneous albinism	KEGG:H00168
Oculocutaneous albinism	PMID:22294196
Oculocutaneous albinism	PMID:1642278
Oculocutaneous albinism	PMID:7704033
Oculocutaneous albinism type IA	PMID:19436266
Vitiligo	PMID:22834951
Vitiligo	PMID:8697641
Melanoma	PMID:8609659
Melanoma	PMID:22834951
Retinoschisis	PMID:20876567
skin melanoma	PMID:21906913
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray