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TYR tyrosinase [ Homo sapiens (human) ]

Gene ID: 7299, updated on 7-Apr-2024

Summary

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Official Symbol
TYRprovided by HGNC
Official Full Name
tyrosinaseprovided by HGNC
Primary source
HGNC:HGNC:12442
See related
Ensembl:ENSG00000077498 MIM:606933; AllianceGenome:HGNC:12442
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ATN; CMM8; OCA1; OCA1A; OCAIA; SHEP3
Summary
The enzyme encoded by this gene catalyzes the first 2 steps, and at least 1 subsequent step, in the conversion of tyrosine to melanin. The enzyme has both tyrosine hydroxylase and dopa oxidase catalytic activities, and requires copper for function. Mutations in this gene result in oculocutaneous albinism, and nonpathologic polymorphisms result in skin pigmentation variation. The human genome contains a pseudogene similar to the 3' half of this gene. [provided by RefSeq, Oct 2008]
Expression
Restricted expression toward skin (RPKM 11.8) See more
Orthologs
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Genomic context

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See TYR in Genome Data Viewer
Location:
11q14.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (89177875..89295759)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (89097534..89215415)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (88911043..89028927)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3833 Neighboring gene Sharpr-MPRA regulatory region 7525 Neighboring gene GRM5 antisense RNA 1 Neighboring gene glutamate metabotropic receptor 5 Neighboring gene RNA, U6 small nuclear 16, pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr11:88521820-88522321 Neighboring gene tyrosinase 5' upstream regulatory sequence Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:88914222-88914816 Neighboring gene CBX3 pseudogene 7 Neighboring gene Sharpr-MPRA regulatory region 6977 Neighboring gene NADPH oxidase 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:89189921-89190421 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:89224088-89224794 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:89224795-89225501 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:89304186-89305004 Neighboring gene Sharpr-MPRA regulatory region 15382 Neighboring gene uncharacterized LOC124902843 Neighboring gene H3 histone pseudogene 34

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism. Michaud V, et al. Nat Commun, 2022 Jul 8. PMID 35803923, Free PMC Article
  2. Identification and characterization of two novel noncoding tyrosinase (TYR) gene variants leading to oculocutaneous albinism type 1. Li C, et al. J Biol Chem, 2022 May. PMID 35413289, Free PMC Article
  3. Novel deletion of exon 3 in TYR gene causing Oculocutaneous albinism 1B in an Indian family along with intellectual disability associated with chromosomal copy number variations. Dhangar S, et al. BMC Med Genomics, 2022 Jan 3. PMID 34980106, Free PMC Article
  4. Targeting Melanoma-Initiating Cells by Caffeine: In Silico and In Vitro Approaches. Tabolacci C, et al. Molecules, 2021 Jun 13. PMID 34199192, Free PMC Article
  5. Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing. Mendez R, et al. Ophthalmic Genet, 2021 Jun. PMID 33599182

See all (220) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Markers of Oxidative Stress and Tyrosinase Activity in Melasma Patients: A Biochemical Investigation.
    Title: Markers of Oxidative Stress and Tyrosinase Activity in Melasma Patients: A Biochemical Investigation.
  2. Dysregulation of tyrosinase activity: a potential link between skin disorders and neurodegeneration.
    Title: Dysregulation of tyrosinase activity: a potential link between skin disorders and neurodegeneration.
  3. Identification and characterization of the compound heterozygous variants of TYR gene in a northern Chinese family with Oculocutaneous albinism type 1.
    Title: Identification and characterization of the compound heterozygous variants of TYR gene in a northern Chinese family with Oculocutaneous albinism type 1.
  4. Mutational Analysis of TYR, OCA2, SLC45A2, and TYRP1 Genes Identifies Novel and Reported Mutations in Chinese Families with Oculocutaneous Albinism.
    Title: Mutational Analysis of TYR, OCA2, SLC45A2, and TYRP1 Genes Identifies Novel and Reported Mutations in Chinese Families with Oculocutaneous Albinism.
  5. The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
    Title: The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
  6. Identification and characterization of two novel noncoding tyrosinase (TYR) gene variants leading to oculocutaneous albinism type 1.
    Title: Identification and characterization of two novel noncoding tyrosinase (TYR) gene variants leading to oculocutaneous albinism type 1.
  7. Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families.
    Title: Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families.
  8. Novel deletion of exon 3 in TYR gene causing Oculocutaneous albinism 1B in an Indian family along with intellectual disability associated with chromosomal copy number variations.
    Title: Novel deletion of exon 3 in TYR gene causing Oculocutaneous albinism 1B in an Indian family along with intellectual disability associated with chromosomal copy number variations.
  9. Hinokitiol-induced decreases of tyrosinase and microphthalmia-associated transcription factor are mediated by the endoplasmic reticulum-associated degradation pathway in human melanoma cells.
    Title: Hinokitiol-induced decreases of tyrosinase and microphthalmia-associated transcription factor are mediated by the endoplasmic reticulum-associated degradation pathway in human melanoma cells.
  10. Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing.
    Title: Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing.
Submit: New GeneRIF Correction See all GeneRIFs (139)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genomewide association study of skin pigmentation in a South Asian population.
EBI GWAS Catalog
Genetic determinants of hair, eye and skin pigmentation in Europeans.
EBI GWAS Catalog
Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.
EBI GWAS Catalog
Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
EBI GWAS Catalog
Genome-wide association study identifies three loci associated with melanoma risk.
EBI GWAS Catalog
Genome-wide association study identifies three new melanoma susceptibility loci.
EBI GWAS Catalog
Genome-wide association study of tanning phenotype in a population of European ancestry.
EBI GWAS Catalog
Identification of a melanoma susceptibility locus and somatic mutation in TET2.
EBI GWAS Catalog
Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.
EBI GWAS Catalog
Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.
EBI GWAS Catalog
Web-based, participant-driven studies yield novel genetic associations for common traits.
EBI GWAS Catalog

Variation

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See Variation Viewer (GRCh37.p13)

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 GOA

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

General protein information

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Preferred Names
tyrosinase
Names
LB24-AB
SK29-AB
monophenol monooxygenase
oculocutaneous albinism IA
tumor rejection antigen AB
NP_000363.1
XP_011541272.1
XP_054225790.1

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.

Genomic

  1. NG_008748.1 RefSeqGene

    Range
    5004..122888
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000372.5 → NP_000363.1  tyrosinase precursor

    See identical proteins and their annotated locations for NP_000363.1

    Status: REVIEWED

    Source sequence(s)
    BU736025, M27160
    Consensus CDS
    CCDS8284.1
    UniProtKB/Swiss-Prot
    P14679, Q15675, Q15676, Q15680, Q8TAK4, Q9BYY0, Q9BZX1
    UniProtKB/TrEMBL
    A0A024DBG7, L8B082, L8B086, L8B0B9, U3M8N0, U3M9D5, U3M9J2
    Related
    ENSP00000263321.4, ENST00000263321.6
    Conserved Domains (1) summary
    pfam00264
    Location:171 → 403
    Tyrosinase; Common central domain of tyrosinase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    89177875..89295759
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542970.3 → XP_011541272.1  tyrosinase isoform X1

    UniProtKB/TrEMBL
    A0A024DBG7, L8B086, L8B0B9, U3M8N0, U3M9D5, U3M9J2
    Conserved Domains (1) summary
    pfam00264
    Location:171 → 403
    Tyrosinase; Common central domain of tyrosinase

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    89097534..89215415
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054369815.1 → XP_054225790.1  tyrosinase isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P14679.3 GenPept UniProtKB/Swiss-Prot:P14679

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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