Tyr
Gene Detail

Symbol Name ID

Tyr tyrosinase MGI:98880

STS

D7Mit19, D7Mit31

Synonyms

skc35

Feature Type

protein coding gene

Genetic Map

Chromosome 7

49.01 cM
Detailed Genetic Map ± 1 cM


Mapping data(320)

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

Mammalian homology

human; rat; cattle; chimpanzee; dog, domestic    (Mammalian Orthology)
Comparative Map (Mouse/Human Tyr ± 2 cM)

Protein SuperFamily: monophenol monooxygenase
Gene Tree: Tyr

Human ortholog

TYR tyrosinase NCBI Gene ID 7299
Human Synonyms: CMM8, OCA1A, OCAIA, SHEP3
Human Chr11:88911040-89028927 bp, + strand Reference GRCh37.p2 Primary Assembly
Human Diseases Associated with Human TYR (3)

Alleles and phenotypes

All alleles(121) : Targeted(2) Spontaneous(29) Chemically induced(16) Radiation induced(78)
 

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 (4)    Alleles Annotated to Human Diseases(3)    Phenotype Images(6)

Gene Ontology (GO) classifications

All GO classifications: (27 annotations)

Process	cell proliferation, melanin biosynthetic process, ...
Component	cytoplasm, integral to membrane, ...
Function	copper ion binding, metal ion binding, ...

External Resources: FuncBase

Expression

Literature Summary: (17 records)
Data Summary: Results (134)    Tissues (38)    Images (66)
Theiler Stages: 19, 20, 22, 23, 25, 28

Assay Type	Results
RNA in situ	134

cDNA source data(49)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(139) Genomic(82) cDNA(54) Primer pair(2) Other(1)
Microarray probesets(4)

Other database links

Ensembl Gene Model	ENSMUSG00000004651 (Evidence)
Entrez Gene	22173 (Evidence)
UniGene	238127
DFCI	TC1588329
DoTS	DT.101301424, DT.101372199, DT.101375094, DT.50315197
NIA Mouse Gene Index	U028833
EC	1.14.18.1
Consensus CDS Project	CCDS52304.1
International Mouse Knockout Project Status	Tyr

Sequences

Length	Strain/Species
genomic	22173	NCBI Gene Model | MGI Sequence Detail	66007	C57BL/6J
transcript	NM_011661	RefSeq | MGI Sequence Detail	3307	C57BL/6
polypeptide	P11344	UniProt | EBI | MGI Sequence Detail	533	Not Applicable

All sequences(32) RefSeq(2) UniProt(6)

Polymorphisms

All PCR and RFLP(28) : PCR(2) RFLP(26) SNPs(439 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:192127 Tewalt EF, et al., Lymphatic endothelial cells induce tolerance via PD-L1 and lack of costimulation leading to high-level PD-1 expression on CD8 T cells. Blood. 2012 Dec 6;120(24):4772-82
All references(513)

Other accession IDs

MGD-MRK-15315, MGD-MRK-1695, MGI:2671628