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Aliases for TYR Gene

Aliases for TYR Gene

  • Tyrosinase 2 3
  • Oculocutaneous Albinism IA 2 3
  • Tumor Rejection Antigen AB 3 4
  • Monophenol Monooxygenase 3 4
  • EC 1.14.18.1 4 63
  • LB24-AB 3 4
  • SK29-AB 3 4
  • OCA1A 3
  • OCAIA 3
  • SHEP3 3
  • CMM8 3
  • OCA1 3
  • ATN 3

External Ids for TYR Gene

Previous GeneCards Identifiers for TYR Gene

  • GC11P091234
  • GC11P090457
  • GC11P089095
  • GC11P088598
  • GC11P088550
  • GC11P088911
  • GC11P085151

Summaries for TYR Gene

Entrez Gene Summary for TYR Gene

  • 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]

GeneCards Summary for TYR Gene

TYR (Tyrosinase) is a Protein Coding gene. Diseases associated with TYR include minimal pigment oculocutaneous albinism type 1 and temperature-sensitive oculocutaneous albinism type 1. Among its related pathways are Metabolism and CDK-mediated phosphorylation and removal of Cdc6. GO annotations related to this gene include protein homodimerization activity and oxidoreductase activity. An important paralog of this gene is DCT.

UniProtKB/Swiss-Prot for TYR Gene

  • This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds. Catalyzes the rate-limiting conversions of tyrosine to DOPA, DOPA to DOPA-quinone and possibly 5,6-dihydroxyindole to indole-5,6 quinone

Gene Wiki entry for TYR Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TYR Gene

Genomics for TYR Gene

Genomic Location for TYR Gene

Chromosome:
11
Start:
89,177,452 bp from pter
End:
89,295,759 bp from pter
Size:
118,308 bases
Orientation:
Plus strand

Genomic View for TYR Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TYR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TYR Gene

Proteins for TYR Gene

  • Protein details for TYR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P14679-TYRO_HUMAN
    Recommended name:
    Tyrosinase
    Protein Accession:
    P14679
    Secondary Accessions:
    • Q15675
    • Q15676
    • Q15680
    • Q8TAK4
    • Q9BYY0
    • Q9BZX1

    Protein attributes for TYR Gene

    Size:
    529 amino acids
    Molecular mass:
    60393 Da
    Cofactor:
    Name=Cu(2+); Xref=ChEBI:CHEBI:29036; Note=Binds 2 copper ions per subunit.;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAA61241.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAA68756.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for TYR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TYR Gene

Proteomics data for TYR Gene at MOPED

Post-translational modifications for TYR Gene

  • Glycosylation at Asn 86, Asn 111, Asn 161, Asn 230, Asn 337, and Asn 371
  • Modification sites at PhosphoSitePlus

Other Protein References for TYR Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for TYR (TYR)

Domains & Families for TYR Gene

Protein Domains for TYR Gene

Suggested Antigen Peptide Sequences for TYR Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P14679

UniProtKB/Swiss-Prot:

TYRO_HUMAN :
  • Belongs to the tyrosinase family.
Family:
  • Belongs to the tyrosinase family.
genes like me logo Genes that share domains with TYR: view

No data available for Gene Families for TYR Gene

Function for TYR Gene

Molecular function for TYR Gene

GENATLAS Biochemistry:
tyrosinase,copper dependent (monophenol monooxygenase),homologous to mouse albino,melanin production
UniProtKB/Swiss-Prot CatalyticActivity:
2 L-dopa + O(2) = 2 dopaquinone + 2 H(2)O
UniProtKB/Swiss-Prot CatalyticActivity:
L-tyrosine + O(2) = dopaquinone + H(2)O
UniProtKB/Swiss-Prot Function:
This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds. Catalyzes the rate-limiting conversions of tyrosine to DOPA, DOPA to DOPA-quinone and possibly 5,6-dihydroxyindole to indole-5,6 quinone
UniProtKB/Swiss-Prot Induction:
Increased expression after UVB irradiation

Enzyme Numbers (IUBMB) for TYR Gene

Gene Ontology (GO) - Molecular Function for TYR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004497 monooxygenase activity TAS --
GO:0004503 monophenol monooxygenase activity IDA 11092760
GO:0005507 copper ion binding IMP 11092760
GO:0005515 protein binding IPI 16162817
GO:0016491 oxidoreductase activity --
genes like me logo Genes that share ontologies with TYR: view
genes like me logo Genes that share phenotypes with TYR: view

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TYR

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for TYR Gene

Localization for TYR Gene

Subcellular locations from UniProtKB/Swiss-Prot for TYR Gene

Melanosome membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TYR Gene COMPARTMENTS Subcellular localization image for TYR gene
Compartment Confidence
lysosome 5
vacuole 5
golgi apparatus 4
cytoskeleton 2
cytosol 2
endoplasmic reticulum 2
endosome 2
nucleus 2
extracellular 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for TYR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IDA 11092760
GO:0005764 lysosome TAS 11092760
GO:0005798 Golgi-associated vesicle TAS 10823941
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with TYR: view

Pathways & Interactions for TYR Gene

genes like me logo Genes that share pathways with TYR: view

Pathways by source for TYR Gene

1 Cell Signaling Technology pathway for TYR Gene
1 GeneGo (Thomson Reuters) pathway for TYR Gene

PCR Array Products

SIGNOR curated interactions for TYR Gene

Is activated by:

Gene Ontology (GO) - Biological Process for TYR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006583 melanin biosynthetic process from tyrosine TAS 7704033
GO:0006726 eye pigment biosynthetic process TAS 7704033
GO:0007601 visual perception TAS 7704033
GO:0008152 metabolic process --
GO:0008283 cell proliferation IEA --
genes like me logo Genes that share ontologies with TYR: view

Drugs & Compounds for TYR Gene

(73) Drugs for TYR Gene - From: HMDB, DrugBank, NovoSeek, DGIdb, and ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Monobenzone Approved Pharma inhibitor, Target 0
Azelaic acid Approved Pharma Target, inhibitor 30
Mimosine Approved Pharma Target, inhibitor 0
Dopamine Approved Pharma Full agonist, Agonist 2814
Levodopa Approved Pharma Agonist 339

(93) Additional Compounds for TYR Gene - From: NovoSeek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
dopaquinone
  • O-Dopaquinone
4430-97-1
Quinone
  • 1,4-Benzoquine
  • 1,4-Benzoquinone
  • 1,4-Cyclohexadiene dioxide
  • 1,4-Cyclohexadienedione
  • 1,4-Diossibenzene
106-51-4
(S)-3-Hydroxy-N-methylcoclaurine
  • 3'-Hydroxy-(S)-N-methylcoclaurine
  • 3'-Hydroxy-N-methyl-(S)-coclaurine
(S)-N-Methylcoclaurine
3,4-Dihydroxy-trans-cinnamate
  • 3,4-Dihydroxy-trans-cinnamic acid
  • trans-Caffeate
501-16-6
genes like me logo Genes that share compounds with TYR: view

Transcripts for TYR Gene

mRNA/cDNA for TYR Gene

Unigene Clusters for TYR Gene

Tyrosinase:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TYR

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TYR Gene

No ASD Table

Relevant External Links for TYR Gene

GeneLoc Exon Structure for
TYR
ECgene alternative splicing isoforms for
TYR

Expression for TYR Gene

mRNA expression in normal human tissues for TYR Gene

mRNA differential expression in normal tissues according to GTEx for TYR Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x25.6) and Skin - Sun Exposed (Lower leg) (x22.1).

SOURCE GeneReport for Unigene cluster for TYR Gene Hs.503555

genes like me logo Genes that share expression patterns with TYR: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for TYR Gene

Orthologs for TYR Gene

This gene was present in the common ancestor of chordates.

Orthologs for TYR Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TYR 35
  • 86.2 (n)
  • 87.15 (a)
TYR 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TYR 35
  • 89.15 (n)
  • 88.44 (a)
TYR 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tyr 35
  • 84.06 (n)
  • 86.39 (a)
Tyr 16
Tyr 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TYR 35
  • 99.62 (n)
  • 99.62 (a)
TYR 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tyr 35
  • 83.68 (n)
  • 87.33 (a)
oppossum
(Monodelphis domestica)
Mammalia TYR 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TYR 36
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves TYR 35
  • 72.54 (n)
  • 73.67 (a)
TYR 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TYR 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tyr 35
  • 67.81 (n)
  • 69.07 (a)
zebrafish
(Danio rerio)
Actinopterygii tyr 35
  • 61.49 (n)
  • 61.55 (a)
tyr 36
  • 60 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12134 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 42 (a)
OneToOne
Species with no ortholog for TYR:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TYR Gene

ENSEMBL:
Gene Tree for TYR (if available)
TreeFam:
Gene Tree for TYR (if available)

Paralogs for TYR Gene

Paralogs for TYR Gene

(4) SIMAP similar genes for TYR Gene using alignment to 8 proteins:

Pseudogenes.org Pseudogenes for TYR Gene

genes like me logo Genes that share paralogs with TYR: view

Variants for TYR Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for TYR Gene

P14679-TYRO_HUMAN
Compound heterozygosity for the R402Q polymorphism and a mutant allele of TYR is a common cause of autosomal recessive ocular albinism. The R402Q polymorphism is also found in Waardenburg syndrome type II with ocular albinism (WS2-OA) in association with a deletion in the MITF gene

Sequence variations from dbSNP and Humsavar for TYR Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs475629 -- 89,270,528(+) attac(A/G)tgcca intron-variant
rs501301 -- 89,289,505(-) AAAGG(C/G)ATCAT intron-variant
rs516696 -- 89,257,063(-) AGGAA(G/T)AGCAG intron-variant
rs525883 -- 89,199,244(-) AAATC(A/G)TGCTG intron-variant
rs535527 -- 89,195,393(-) CCATG(A/T)GGTCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TYR Gene

Variant ID Type Subtype PubMed ID
esv32702 CNV Gain+Loss 17666407
nsv469976 CNV Gain 18288195
nsv468781 CNV Gain 19166990
esv989571 CNV Deletion 20482838
nsv39232 CNV Loss 16902084
esv3450 CNV Deletion 18987735
esv2744880 CNV Deletion 23290073
esv2660364 CNV Deletion 23128226
esv27246 CNV Loss 19812545
esv996249 CNV Loss 20482838
dgv165n27 CNV Loss 19166990

Variation tolerance for TYR Gene

Residual Variation Intolerance Score: 10.73% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.14; 87.80% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TYR Gene

HapMap Linkage Disequilibrium report
TYR
Human Gene Mutation Database (HGMD)
TYR

Disorders for TYR Gene

MalaCards: The human disease database

(46) MalaCards diseases for TYR Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
minimal pigment oculocutaneous albinism type 1
  • mp oca type 1
temperature-sensitive oculocutaneous albinism type 1
  • oca1-ts
ocular albinism with congenital sensorineural deafness
  • waardenburg syndrome type 2 with ocular albinism
waardenburg syndrome/ocular albinism, digenic
  • waardenburg syndrome/albinism, digenic
albinism, oculocutaneous, type ia
  • oculocutaneous albinism type 1
- elite association
Search TYR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TYRO_HUMAN
  • Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]: An autosomal recessive disorder in which the biosynthesis of melanin pigment is absent in skin, hair, and eyes. It is characterized by complete lack of tyrosinase activity due to production of an inactive enzyme. Patients present with a life-long absence of melanin pigment after birth, and manifest increased sensitivity to ultraviolet radiation with predisposition to skin cancer. Visual anomalies include decreased acuity, nystagmus, strabismus and photophobia. {ECO:0000269 PubMed:10571953, ECO:0000269 PubMed:10671066, ECO:0000269 PubMed:10987646, ECO:0000269 PubMed:11295837, ECO:0000269 PubMed:11858948, ECO:0000269 PubMed:1487241, ECO:0000269 PubMed:15146472, ECO:0000269 PubMed:1642278, ECO:0000269 PubMed:1899321, ECO:0000269 PubMed:1943686, ECO:0000269 PubMed:1970634, ECO:0000269 PubMed:22981120, ECO:0000269 PubMed:2342539, ECO:0000269 PubMed:23504663, ECO:0000269 PubMed:24934919, ECO:0000269 PubMed:7902671, ECO:0000269 PubMed:7955413, ECO:0000269 PubMed:8128955, ECO:0000269 PubMed:8644824, ECO:0000269 PubMed:9259202}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Albinism, oculocutaneous, 1B (OCA1B) [MIM:606952]: An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. It is characterized by partial lack of tyrosinase activity. Patients have white hair at birth that rapidly turns yellow or blond. They manifest the development of minimal-to-moderate amounts of cutaneous and ocular pigment. Some patients may have with white hair in the warmer areas (scalp and axilla) and progressively darker hair in the cooler areas (extremities). This variant phenotype is due to a loss of tyrosinase activity above 35-37 degrees C. {ECO:0000269 PubMed:10987646, ECO:0000269 PubMed:1900309, ECO:0000269 PubMed:1903591, ECO:0000269 PubMed:8128955}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TYR

Genetic Association Database (GAD)
TYR
Human Genome Epidemiology (HuGE) Navigator
TYR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TYR
genes like me logo Genes that share disorders with TYR: view

No data available for Genatlas for TYR Gene

Publications for TYR Gene

  1. Oxazolones: new tyrosinase inhibitors; synthesis and their structure-activity relationships. (PMID: 16750372) Khan K.M. … Choudhary M.I. (Bioorg. Med. Chem. 2006) 23 25 26 67
  2. A possible mechanism of action for azelaic acid in the human epidermis. (PMID: 2114832) Schallreuter K.U. … Wood J.W. (Arch. Dermatol. Res. 1990) 23 25 26 67
  3. A potential role for cyclized quinones derived from dopamine, DOPA, and 3,4-dihydroxyphenylacetic acid in proteasomal inhibition. (PMID: 16790533) Zafar K.S. … Ross D. (Mol. Pharmacol. 2006) 23 25 67
  4. Regulation of tyrosinase by tetrahydropteridines and H2O2. (PMID: 15555584) Wood J.M. … Schallreuter K.U. (Biochem. Biophys. Res. Commun. 2004) 23 26 67
  5. A specific tetrahydrobiopterin binding domain on tyrosinase controls melanogenesis. (PMID: 7826365) Wood J.M. … Gardner M.L. (Biochem. Biophys. Res. Commun. 1995) 23 26 67

Products for TYR Gene

  • Addgene plasmids for TYR

Sources for TYR Gene

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