Homo sapiens Gene: TYR
Summary
InnateDB Gene IDBG-67283.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TYR
Gene Name tyrosinase
Synonyms ATN; CMM8; OCA1; OCA1A; OCAIA; SHEP3;
Species Homo sapiens
Ensembl Gene ENSG00000077498
Encoded Proteins
tyrosinase (oculocutaneous albinism IA)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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. Mutations in this gene result in oculocutaneous albinism, and nonpathologic polymorphisms result in skin pigmentation variation. The human genome contains a pseudogene similar to the 3' half of this gene. [provided by RefSeq, Oct 2008]
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. Mutations in this gene result in oculocutaneous albinism, and nonpathologic polymorphisms result in skin pigmentation variation. The human genome contains a pseudogene similar to the 3\' half of this gene. [provided by RefSeq, Oct 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:89177452-89295759
Strand Forward strand
Band q14.3
Transcripts
ENST00000263321 ENSP00000263321
ENST00000526139
ENST00000528243
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.
Experimentally validated
Total 4 [view]
Protein-Protein 2 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 7 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004503 monophenol monooxygenase activity
GO:0005507 copper ion binding
GO:0005515 protein binding
GO:0016491 oxidoreductase activity
GO:0042803 protein homodimerization activity
GO:0046982 protein heterodimerization activity
Biological Process
GO:0006583 melanin biosynthetic process from tyrosine
GO:0006726 eye pigment biosynthetic process
GO:0007601 visual perception
GO:0008152 metabolic process
GO:0008283 cell proliferation
GO:0042438 melanin biosynthetic process
GO:0043473 pigmentation
GO:0048538 thymus development
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0005798 Golgi-associated vesicle
GO:0016021 integral component of membrane
GO:0033162 melanosome membrane
GO:0042470 melanosome
GO:0048471 perinuclear region of cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
Tyrosine metabolism pathway
Riboflavin metabolism pathway
Melanogenesis pathway
INOH
Tyrosine metabolism pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt P14679
TrEMBL L8B082 Q9UMA1 Q9UMA2
UniProt Splice Variant
Entrez Gene 7299
UniGene Hs.502585 Hs.503555
RefSeq NM_000372
HUGO HGNC:12442
OMIM 606933
CCDS CCDS8284
HPRD
IMGT
EMBL AB775900 AF237807 AF237808 AF237809 AF237810 AF237811 AY012019 BC027179 CH471185 J03581 KC201429 KC201430 KC201431 KC201433 KC201434 KC201435 KC201436 KC201437 KC201438 KC201439 KC201440 KC201441 KC201442 KC201443 KC201444 KC201445 KC201446 KC201447 KC201448 KC201449 KC201450 KC201451 KC201452 KC201453 KC201454 KC201455 KC201456 KC201457 KC201458 KC201459 KC201463 KC201466 KC201471 KC201472 KC201475 KC201476 KC201477 KC201478 KC201479 KC201481 KC201483 KC201484 KC201485 KC201486 KC201487 KC201488 KC201489 KC201490 KC201491 KC201492 KC201493 KC201494 KC201495 KC201496 KC201497 KC201498 KC201499 KC201502 KC201503 KC201504 KC201505 KC201506 KC201507 KC201508 KC201509 KC201511 KC201512 KC201513 KC201514 KC201515 KC201516 KC201517 KC201518 KC201519 KC201520 KC201521 KC201522 KC201523 KC201524 KC201525 KC201526 KC201527 KC201528 KC201529 KC201530 KC201531 KC201532 KC201533 KC201534 KC201535 KC201536 KC201537 KC201538 KC201539 KC201541 KC201547 KC201552 KC201555 KC201556 KC201557 KC201558 KC201559 KC201560 KC201561 KC201562 KC201563 KC201564 KC201565 KC201567 KC201568 KC201569 KC201571 KC201573 KC201574 KC201575 KC201576 KC201577 KC201578 KC201579 KC201580 KC201581 KC201582 KC201583 KC201584 KC201585 KC201586 KC201587 KC201588 M27160 M63235 M63236 M63237 M63238 M63239 M74314 S66645 S66648 U01873 X16073 Y00819
GenPept AAA61241 AAA61242 AAA61244 AAB37227 AAB60319 AAD13984 AAD13985 AAG38762 AAH27179 AAK00805 AGV39051 AGV39052 AGV39053 AGV39055 AGV39056 AGV39057 AGV39058 AGV39059 AGV39060 AGV39061 AGV39062 AGV39063 AGV39064 AGV39065 AGV39066 AGV39067 AGV39068 AGV39069 AGV39070 AGV39071 AGV39072 AGV39073 AGV39074 AGV39075 AGV39076 AGV39077 AGV39078 AGV39079 AGV39080 AGV39081 AGV39085 AGV39088 AGV39093 AGV39094 AGV39097 AGV39098 AGV39099 AGV39100 AGV39101 AGV39103 AGV39105 AGV39106 AGV39107 AGV39108 AGV39109 AGV39110 AGV39111 AGV39112 AGV39113 AGV39114 AGV39115 AGV39116 AGV39117 AGV39118 AGV39119 AGV39120 AGV39121 AGV39124 AGV39125 AGV39126 AGV39127 AGV39128 AGV39129 AGV39130 AGV39131 AGV39133 AGV39134 AGV39135 AGV39136 AGV39137 AGV39138 AGV39139 AGV39140 AGV39141 AGV39142 AGV39143 AGV39144 AGV39145 AGV39146 AGV39147 AGV39148 AGV39149 AGV39150 AGV39151 AGV39152 AGV39153 AGV39154 AGV39155 AGV39156 AGV39157 AGV39158 AGV39159 AGV39160 AGV39161 AGV39163 AGV39169 AGV39174 AGV39177 AGV39178 AGV39179 AGV39180 AGV39181 AGV39182 AGV39183 AGV39184 AGV39185 AGV39186 AGV39187 AGV39189 AGV39190 AGV39191 AGV39193 AGV39195 AGV39196 AGV39197 AGV39198 AGV39199 AGV39200 AGV39201 AGV39202 AGV39203 AGV39204 AGV39205 AGV39206 AGV39207 AGV39208 AGV39209 AGV39210 BAM75357 CAA34205 CAA68756 EAW59356
RNA Seq Atlas 7299