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TYR tyrosinase [ Homo sapiens (human) ]

Gene ID: 7299, updated on 8-Jul-2021

Summary

Official Symbol
TYRprovided by HGNC
Official Full Name
tyrosinaseprovided by HGNC
Primary source
HGNC:HGNC:12442
See related
Ensembl:ENSG00000077498 MIM:606933
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

See TYR in Genome Data Viewer
Location:
11q14.3
Exon count:
6
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (89177565..89295759)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (88911043..89028927)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene glutamate metabotropic receptor 5 Neighboring gene RNA, U6 small nuclear 16, pseudogene Neighboring gene uncharacterized LOC107984363 Neighboring gene tyrosinase 5' upstream regulatory sequence Neighboring gene chromobox 3 pseudogene 7 Neighboring gene NADPH oxidase 4 Neighboring gene H3 histone pseudogene 34 Neighboring gene folate hydrolase 1B

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genomewide association study of skin pigmentation in a South Asian population.
GeneReviews: Not available
Genetic determinants of hair, eye and skin pigmentation in Europeans.
GeneReviews: Not available
Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.
GeneReviews: Not available
Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
GeneReviews: Not available
Genome-wide association study identifies three loci associated with melanoma risk.
GeneReviews: Not available
Genome-wide association study identifies three new melanoma susceptibility loci.
GeneReviews: Not available
Genome-wide association study of tanning phenotype in a population of European ancestry.
GeneReviews: Not available
Identification of a melanoma susceptibility locus and somatic mutation in TET2.
GeneReviews: Not available
Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.
GeneReviews: Not available
Oculocutaneous albinism type 1B
MedGen: C1847024 OMIM: 606952 GeneReviews: Not available
Compare labs
Skin/hair/eye pigmentation, variation in, 3
MedGen: C2677190 OMIM: 601800 GeneReviews: Not available
Compare labs
Tyrosinase-negative oculocutaneous albinism
MedGen: C4551504 OMIM: 203100 GeneReviews: Not available
Compare labs
Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.
GeneReviews: Not available
Web-based, participant-driven studies yield novel genetic associations for common traits.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 monophenol monooxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables monophenol monooxygenase activity 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
 
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
PubMed 
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
PubMed 
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 cytosol IEA
Inferred from Electronic Annotation
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
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 nucleus IEA
Inferred from Electronic Annotation
more info
 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

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_000372.5NP_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
    UniProtKB/TrEMBL
    L8B082
    Related
    ENSP00000263321.4, ENST00000263321.6
    Conserved Domains (1) summary
    pfam00264
    Location:171403
    Tyrosinase; Common central domain of tyrosinase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    89177565..89295759
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542970.2XP_011541272.1  tyrosinase isoform X1

    Conserved Domains (1) summary
    pfam00264
    Location:171403
    Tyrosinase; Common central domain of tyrosinase
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