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    Tyr tyrosinase [ Mus musculus (house mouse) ]

    Gene ID: 22173, updated on 3-Dec-2024

    Summary

    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, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
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    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001317397.2NP_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:171354
      Tyrosinase; Common central domain of tyrosinase
    2. NM_001417448.1NP_001404377.1  tyrosinase isoform 3 precursor

      Status: VALIDATED

      Source sequence(s)
      AC122517
      UniProtKB/TrEMBL
      Q3UFQ7
      Related
      ENSMUST00000207164.2
    3. NM_011661.6NP_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:171403
      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)