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Tyr
Gene Detail
 Symbol
Name
ID
Tyr
tyrosinase
MGI:98880
STS D7Mit19, D7Mit31
Synonyms Oca1, skc35
Feature Type protein coding gene
Genetic Map
Chromosome 7
49.01 cM
Detailed Genetic Map ± 1 cM


Mapping data(319)
Sequence Map
Chr7:87427405-87493411 bp, - strand
From NCBI annotation of GRCm38

  66007 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:30969  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: monophenol monooxygenase
Gene Tree: Tyr

Human
homologs
Human Homolog TYR, tyrosinase
NCBI Gene ID 7299
neXtProt AC  NX_P14679
Human Synonyms  ATN, CMM8, OCA1, OCA1A, OCAIA, SHEP3
Human Chr (Location)  11q14.3; chr11:89177872-89295759 (+)  GRCh38
Disease Associations  (3) Diseases Associated with Human TYR
Mutations,
alleles, and
phenotypes
All mutations/alleles(123) : Chemically and radiation induced(4) Chemically induced (ENU)(8) Chemically induced (other)(5) Endonuclease-mediated(1) Radiation induced(74) Spontaneous(29) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
 
Numerous mutations at this locus result in albinism or hypopigmentation. Albinism is associated with reduced number of optic nerve fibers and mutants can have impaired vision. Some alleles are lethal.
 
Human Diseases Modeled Using Mouse Tyr (3)    Alleles Annotated to Human Diseases(3)    Phenotype Images(6)
Interactions
Tyr interacts with 263 markers (Mir1b, Mir7-1, Mir9-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (28 annotations)
Process cell proliferation, melanin biosynthetic process, ...
Component cytoplasm, cytosol, ...
Function copper ion binding, metal ion binding, ...
External Resources: FuncBase
Expression
Literature Summary: (18 records)
Data Summary: Results (134)    Tissues (38)    Images (66)
Theiler Stages: 19, 20, 22, 23, 25, 28
Assay TypeResults
RNA in situ 134
cDNA source data(49)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(139) Genomic(82) cDNA(54) Primer pair(2) Other(1)
Microarray probesets(4)
Other database
links
Ensembl Gene ModelENSMUSG00000004651 (Evidence)
Entrez Gene22173 (Evidence)
UniGene238127
DFCITC1588329
DoTSDT.101301424, DT.101372199, DT.101375094, DT.50315197
NIA Mouse Gene IndexU028833
EC1.14.18.1
Consensus CDS ProjectCCDS52304.1
International Mouse Knockout Project StatusTyr
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 22173 NCBI Gene Model | MGI Sequence Detail 66007 C57BL/6J ±  kb
transcript NM_011661 RefSeq | MGI Sequence Detail 3307 C57BL/6 
polypeptide P11344 UniProt | EBI | MGI Sequence Detail 533 Not Applicable 

For the selected sequences
All sequences(39) RefSeq(8) UniProt(6)
Polymorphisms All PCR and RFLP(28) : PCR(2) RFLP(26) SNPs within 2kb(652 from dbSNP Build 137)    SNPs within 2kb including multiple locations(654)
Protein-related
information
ResourceIDDescription
InterPro IPR002227 Tyrosinase
InterPro IPR008922 Uncharacterised domain, di-copper centre
Protein Ontology PR:000016877 tyrosinase
Graphical View of Protein Domain Structure
References (Earliest) J:100 Haldane JBS, et al., Reduplication in mice. J Genet. 1915;5:133-135
(Latest) J:211641 Bhansali P, et al., Delayed neurogenesis leads to altered specification of ventrotemporal retinal ganglion cells in albino mice. Neural Dev. 2014;9:11
All references(530)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-15315, MGD-MRK-1695, MGI:2671628

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory