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    TYR tyrosinase [ Homo sapiens (human) ]

    Gene ID: 7299, updated on 10-Dec-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (89177875..89295759)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (89097534..89215415)
    RS_2024_09 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. Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1). Mutations in brief no. 204. Online. Oetting WS, et al. Hum Mutat, 1998. PMID 10671066
    2. Genetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR Gene. Sundaresan P, et al. Mol Vis, 2004 Dec 27. PMID 15635296
    3. Tyrosinase gene analysis in Japanese patients with oculocutaneous albinism. Goto M, et al. J Dermatol Sci, 2004 Sep. PMID 15381243
    4. Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism. Opitz S, et al. Hum Mutat, 2004 Jun. PMID 15146472
    5. A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1). Nakamura E, et al. J Dermatol Sci, 2002 Feb. PMID 11858948

    See all (228) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Structural characterization of tyrosinases and an update on human enzymes.
      Title: Structural characterization of tyrosinases and an update on human enzymes.
    2. TYR mutation in a Chinese population with oculocutaneous albinism: Molecular characteristics and ophthalmic manifestations.
      Title: TYR mutation in a Chinese population with oculocutaneous albinism: Molecular characteristics and ophthalmic manifestations.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (141)

    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 variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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_2024_08

    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

      UniProtKB/TrEMBL
      L8B0B9
    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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