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Tyr tyrosinase [ Mus musculus (house mouse) ]

Gene ID: 22173, updated on 9-Dec-2024

Summary

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Official Symbol
Tyrprovided by MGI
Official Full Name
tyrosinaseprovided by MGI
Primary source
MGI:MGI:98880
See related
Ensembl:ENSMUSG00000004651 AllianceGenome:MGI:98880
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
c; Oca1; skc35; albino
Summary
Enables protein homodimerization activity. Acts upstream of or within several processes, including melanin biosynthetic process; pigmentation; and thymus development. Located in melanosome. Is expressed in central nervous system; eye; head mesenchyme; mesenchyme derived from neural crest; and skin. Used to study buphthalmos and oculocutaneous albinism. Human ortholog(s) of this gene implicated in several diseases, including melanoma (multiple); ocular albinism 1; oculocutaneous albinism (multiple); retinoschisis; and vitiligo. Orthologous to human TYR (tyrosinase). [provided by Alliance of Genome Resources, Dec 2024]
Expression
Low expression observed in reference dataset See more
Orthologs
human all
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Genomic context

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See Tyr in Genome Data Viewer
Location:
7 D3; 7 49.01 cM
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (87073979..87142637, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (87424771..87493512, complement)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene ribosomal protein S4, X-linked pseudogene Neighboring gene NADPH oxidase 4 Neighboring gene STARR-seq mESC enhancer starr_19472 Neighboring gene STARR-seq mESC enhancer starr_19473 Neighboring gene tyrosinase locus control region Neighboring gene predicted gene, 57515 Neighboring gene tyrosinase CNS-2 distal regulatory element Neighboring gene glutamate receptor, metabotropic 5 Neighboring gene splicing factor 3a, subunit 1 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Pigment synthesis in the Himalayan mouse. Kidson S, et al. J Exp Zool, 1979 Oct. PMID 536710
  2. Inhibitory effect of ephedrannins A and B from roots of Ephedra sinica STAPF on melanogenesis. Kim IS, et al. Biochim Biophys Acta, 2015 Jul. PMID 25857772
  3. Localized in vivo genotypic and phenotypic correction of the albino mutation in skin by RNA-DNA oligonucleotide. Alexeev V, et al. Nat Biotechnol, 2000 Jan. PMID 10625389
  4. Tyrosinase-catalyzed metabolism of rhododendrol (RD) in B16 melanoma cells: production of RD-pheomelanin and covalent binding with thiol proteins. Ito S, et al. Pigment Cell Melanoma Res, 2015 May. PMID 25713930
  5. Detailed phenotypic and molecular analyses of genetically modified mice generated by CRISPR-Cas9-mediated editing. Parikh BA, et al. PLoS One, 2015. PMID 25587897, Free PMC Article

See all (607) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Melanogrit potentiates melanogenesis by escalating cellular tyrosinase activity and MITF levels via pERK inhibition.
    Title: Melanogrit potentiates melanogenesis by escalating cellular tyrosinase activity and MITF levels via pERK inhibition.
  2. Rab32/38-Dependent and -Independent Transport of Tyrosinase to Melanosomes in B16-F1 Melanoma Cells.
    Title: Rab32/38-Dependent and -Independent Transport of Tyrosinase to Melanosomes in B16-F1 Melanoma Cells.
  3. Albino mice with the point mutation at the tyrosinase locus show high cholesterol diet-induced NASH susceptibility.
    Title: Albino mice with the point mutation at the tyrosinase locus show high cholesterol diet-induced NASH susceptibility.
  4. Tyrosinase deficiency increases protein carbonyl content in substantia nigra of mice administered retinol palmitate.
    Title: Tyrosinase deficiency increases protein carbonyl content in substantia nigra of mice administered retinol palmitate.
  5. The relationship between melanin production and lipofuscin formation in Tyrosinase gene knockout melanocytes using CRISPR/Cas9 system.
    Title: The relationship between melanin production and lipofuscin formation in Tyrosinase gene knockout melanocytes using CRISPR/Cas9 system.
  6. These findings confirm that tyrosinase is a novel lymphangiogenesis regulator in developmental and inflammatory lymphangiogenesis.
    Title: Tyrosinase Is a Novel Endogenous Regulator of Developmental and Inflammatory Lymphangiogenesis.
  7. This study demonstrates the utility of CRISPR-Cas9 system in generating domain-specific in-frame deletions and helps gain further insights into structure-function of Tyr gene.
    Title: Novel Hypomorphic Alleles of the Mouse Tyrosinase Gene Induced by CRISPR-Cas9 Nucleases Cause Non-Albino Pigmentation Phenotypes.
  8. These results suggest that the tyrosinase-induced metabolism of rhodendrol causes melanocyte toxicity.
    Title: Tyrosinase-catalyzed metabolism of rhododendrol (RD) in B16 melanoma cells: production of RD-pheomelanin and covalent binding with thiol proteins.
  9. Data indicate that both ephedrannins A and B were competitive inhibitors of mushroom tyrosinase.
    Title: Inhibitory effect of ephedrannins A and B from roots of Ephedra sinica STAPF on melanogenesis.
  10. STAP-2 colocalized with tyrosinase in lysosomes and protected tyrosinase from protein degradation in B16F10 melanoma cells.
    Title: STAP-2 Protein Expression in B16F10 Melanoma Cells Positively Regulates Protein Levels of Tyrosinase, Which Determines Organs to Infiltrate in the Body.
Submit: New GeneRIF Correction See all GeneRIFs (40)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables copper ion binding IEA
Inferred from Electronic Annotation
more info
  
enables copper ion binding ISO
Inferred from Sequence Orthology
more info
  
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables tyrosinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables tyrosinase activity ISO
Inferred from Sequence Orthology
more info
  
enables tyrosinase activity TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within cell population proliferation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in melanin biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within melanin biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in melanin biosynthetic process ISO
Inferred from Sequence Orthology
more info
  
involved_in pigmentation IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within pigmentation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in pigmentation ISO
Inferred from Sequence Orthology
more info
  
involved_in response to UV IEA
Inferred from Electronic Annotation
more info
  
involved_in response to blue light ISO
Inferred from Sequence Orthology
more info
  
involved_in response to blue light ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in response to cAMP IEA
Inferred from Electronic Annotation
more info
  
involved_in response to vitamin D IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within thymus development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in intracellular membrane-bounded organelle ISO
Inferred from Sequence Orthology
more info
  
located_in melanosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in melanosome membrane IEA
Inferred from Electronic Annotation
more info
  
located_in membrane TAS
Traceable Author Statement
more info
 PubMed 
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in perinuclear region of cytoplasm ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
tyrosinase
Names
albino locus protein
monophenol monooxygenase
NP_001304326.1
NP_001404377.1
NP_035791.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001317397.2 → NP_001304326.1  tyrosinase isoform 2 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 3' coding region, resulting in a frameshift and a novel 3' UTR, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC122517, AC141329
    UniProtKB/TrEMBL
    Q3UFQ7
    Conserved Domains (1) summary
    pfam00264
    Location:171 → 354
    Tyrosinase; Common central domain of tyrosinase

  2. NM_001417448.1 → NP_001404377.1  tyrosinase isoform 3 precursor

    Status: VALIDATED

    Source sequence(s)
    AC122517
    UniProtKB/TrEMBL
    Q3UFQ7
    Related
    ENSMUST00000207164.2

  3. NM_011661.6 → NP_035791.1  tyrosinase isoform 1 precursor

    See identical proteins and their annotated locations for NP_035791.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC122517, AC141329
    Consensus CDS
    CCDS52304.1
    UniProtKB/Swiss-Prot
    P11344
    UniProtKB/TrEMBL
    Q3UFK9, Q91XK0
    Related
    ENSMUSP00000004770.6, ENSMUST00000004770.7
    Conserved Domains (1) summary
    pfam00264
    Location:171 → 403
    Tyrosinase; Common central domain of tyrosinase

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    87073979..87142637 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P11344.3 GenPept UniProtKB/Swiss-Prot:P11344

Gene LinkOut

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