Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | TYR | contributors: SGE/npt - updated : 15-04-2015 |
HGNC name | tyrosinase (oculocutaneous albinism IA) |
HGNC id | 12442 |
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Corresponding disease |
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Location | 11q14.3 Physical location : 88.911.039 - 89.028.926 | ||||
Synonym name | |||||
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Synonym symbol(s) | OCAIA, SHEP3, LB24-AB, SK29-AB | ||||
EC.number | 1.14.18.1 |
DNA |
TYPE | functioning gene |
STRUCTURE | 117.89 kb 5 Exon(s) |
10 Kb 5' upstream gene genomic sequence study |
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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 |
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EXPRESSION |
Type | restricted |
expressed in | (based on citations) | ||||||||||||||||||||||||||||||||||||||||||||||||||
organ(s) |
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tissue |
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cells |
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cell lineage
cell lines
| fluid/secretion
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at STAGE |
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
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motifs/domains
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conjugated | GlycoP |
HOMOLOGY |
interspecies | homolog to rattus Tyr (87.3pc) |
homolog to murine Tyr (86.4pc) |
Homologene |
FAMILY |
CATEGORY | enzyme , antigen |
SUBCELLULAR LOCALIZATION | intracellular |
intracellular,cytoplasm,organelle,membrane | |
intracellular,cytoplasm,organelle,Golgi | |
text | |
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basic FUNCTION | |
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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, |
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) |
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Susceptibility |
Variant & Polymorphism SNP | |
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Candidate gene
Marker
| Therapy target
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ANIMAL & CELL MODELS |