Tyr tyrosinase [Mus musculus (house mouse)] - Gene

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: human all
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Genomic context

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_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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)

Chemically and radiation induced (4)
Chemically induced (ENU) (12) 1 citation
Chemically induced (other) (5) 1 citation
Endonuclease-mediated (32) 1 citation
Radiation induced (74) 1 citation
Spontaneous (29) 1 citation
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D7Mit19 (e-PCR), detects polymorphism
- UniSTS:131080

D7Mit19.1 (e-PCR), detects polymorphism
- UniSTS:131081

M24560 (e-PCR)
- UniSTS:124945

D7Mit216 (e-PCR), detects polymorphism
- UniSTS:131108

Tyr (e-PCR), detects polymorphism
- UniSTS:144709

Tyr (e-PCR), detects polymorphism
- UniSTS:144710

D0M7Mit31 (e-PCR)
- UniSTS:131210

D7Mit31 (e-PCR), detects polymorphism
- UniSTS:131210

D0Nds35 (e-PCR), detects polymorphism
- UniSTS:141464

D0Nds37 (e-PCR), detects polymorphism
- UniSTS:141466

RH133723 (e-PCR)
- UniSTS:217006

M24560 (e-PCR)
- UniSTS:159664

RH18134 (e-PCR)
- UniSTS:28361

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

EC 1.14.18.1

NP_001404377.1

EC 1.14.18.1

NP_035791.1

EC 1.14.18.1

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)

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
NM_001417448.1 → NP_001404377.1 tyrosinase isoform 3 precursor

Status: VALIDATED

Source sequence(s)

AC122517

Related

ENSMUST00000207164.2
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