InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-67285

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

ENSMUSG00000004651

View Gene Order

ENSBTAG00000011813

Not yet available

Pathways

NETPATH

REACTOME

KEGG

hsa00740

Riboflavin metabolism pathway

hsa00350

Tyrosine metabolism pathway

hsa04916

Melanogenesis pathway

INOH

INOH website

Tyrosine metabolism pathway

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