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FLASH GENE

Symbol

TYR

contributors: SGE/npt - updated : 15-04-2015

HGNC name	tyrosinase (oculocutaneous albinism IA)
HGNC id	12442

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	117.89 kb     5 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

Map	cen - D11S1354 - D11S4082 - D11S1887 - D11S1780 - D11S1367 - TYR - D11S931 - D11S1342 - D11S1358 - qter
Authors	Coupry (01)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000372 5 - 2082 NP_000363 - 529 - Kwon (1987)

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Reproductive female system breast mammary gland   moderately Skin/Tegument skin       specific Urinary bladder       moderately Visual eye       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow

cells

System Cell Pubmed Species Stage Rna symbol Skin/Tegument melanocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

two copper-binding sites

conjugated

GlycoP

HOMOLOGY

interspecies	homolog to rattus Tyr (87.3pc)
	homolog to murine Tyr (86.4pc)

Homologene

FAMILY

tyrosinase family

CATEGORY

enzyme , antigen

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,Golgi
text	golgi vesicle
	melanosome membrane

basic FUNCTION	copper dependent, copper-containing oxidase functioning in the formation of pigments such as melanins and other polyphenolic compounds
	catalyzing the rate-limiting conversions of tyrosine to dopa, dopa to dopa-quinone and possibly 5,6-dihydroxyindole to indole-5,6 quinone
	acting as a tumor antigen
	catalyses the initial steps of melanin biosynthesis within melanosomes

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

other

signaling

sensory transduction/hearing , sensory transduction/vision

eye pigment biosynthesis, melanin biosynthesis from tyrosine

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	Cu2+ (2 ions per subunit)

protein	interacting with ATP7A (required to supply copper to tyrosinase in melanosomes)
	LEF1 overexpression increased TYR gene promoter activity, whereas LEF1 knockdown by RNA interference significantly decreased TYR expression

cell & other

REGULATION

activated by

TP53 (TP53-mediated adaptive response of skin to DNA damage from UV-irradiation )

induced by	ultraviolet irradiation (UV)
		DNA-damaging agents and DNA fragments such as thymidine dinucleotides

ASSOCIATED DISORDERS

corresponding disease(s)

OCA1 , OCA1B

related resource

Albinism Database

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       TYR(R402Q) allele, a functionally significant polymorphism associated or not with deletion in exon 8 of the MITF, leading to moderately reduced tyrosinase catalytic activity in Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism

Susceptibility

Variant & Polymorphism SNP	associated to frequent freeckles and sun sensitivity
	ARG402GLN variant is associated with skin color and tanning ability, and squamous cell carcinoma risk (Nan 2009)

Candidate gene
Marker
Therapy target	prenatal molecular diagnosis of OCA (Rosenmann 2009)
	TYR siRNA may provide a novel strategy for the control of cell pigmentation (An 2009)

ANIMAL & CELL MODELS