AutismKB 2.0

Annotation Details for TYR


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:TYR ( OCA1A,OCAIA,SHEP3 )
Gene Full Name: tyrosinase (oculocutaneous albinism IA)
Band: 11q14.3
Quick LinksEntrez ID:7299; OMIM: 606933; Uniprot ID:TYRO_HUMAN; ENSEMBL ID: ENSG00000077498; HGNC ID: 12442
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IEA-nucleus-
GO:0005737IDA-cytoplasm11092760
GO:0005764TAS-lysosome11092760
GO:0005798TAS-Golgi-associated vesicle10823941
GO:0005829IEA-cytosol-
GO:0016021IEA-integral component of membrane-
GO:0033162TAS-melanosome membrane-
GO:0042470IDAcolocalizes_withmelanosome1145200
GO:0042470ISS-melanosome-
GO:0043231IDA-intracellular membrane-bounded organelle-
GO:0048471IDA-perinuclear region of cytoplasm11092760
GO ID Evidence Qualifier GO_term References
GO:0004497TAS-monooxygenase activity-
GO:0004503IDA-monophenol monooxygenase activity11092760
GO:0005507IMP-copper ion binding11092760
GO:0005515IPI-protein binding16162817
GO:0042803ISS-protein homodimerization activity-
GO:0046982ISS-protein heterodimerization activity-
GO ID Evidence Qualifier GO_term References
GO:0006583TAS-melanin biosynthetic process from tyrosine7704033
GO:0006726TAS-eye pigment biosynthetic process7704033
GO:0007601TAS-visual perception7704033
GO:0008283IEA-cell proliferation-
GO:0009411IEA-response to UV-
GO:0033280IEA-response to vitamin D-
GO:0042438IDA-melanin biosynthetic process8126111
GO:0042438TAS-melanin biosynthetic process-
GO:0048538IEA-thymus development-
GO:0051591IEA-response to cAMP-
GO:0055114IEA-oxidation-reduction process-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
No data
Gene Symbol Poly Names Gene overview in PDGene
TYRrs1042602, rs1799989, rs1827430 Gene overview in PDGene
Gene Symbol Poly Names Gene overview in SZGene
TYRTYR_MboI Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:98880
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-991026-3'