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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 64
  • LB24-AB 3 4
  • SK29-AB 3 4
  • OCA1A 3 6
  • SHEP3 3 6
  • CMM8 3 6
  • ATN 3 6
  • OCAIA 3
  • OCA1 3

External Ids for TYR Gene

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 oculocutaneous albinism and minimal pigment oculocutaneous albinism type 1. Among its related pathways are Metabolism and Glucose / Energy Metabolism. GO annotations related to this gene include protein homodimerization activity and copper ion binding. 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

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

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn86, Asn111, Asn161, Asn230, Asn337, and Asn371

Other Protein References for TYR Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains for TYR Gene

Protein Domains for TYR Gene

UniProtKB/Swiss-Prot:

TYRO_HUMAN
Family:
  • Belongs to the tyrosinase family.:
    • P14679
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

No data available for Animal Models , miRNA , Transcription Factor Targeting 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 3
extracellular 3
nucleus 3
plasma membrane 3
chloroplast 2
cytosol 2
endoplasmic reticulum 2
endosome 2
mitochondrion 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for TYR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 11092760
GO:0005764 lysosome TAS 11092760
GO:0005798 Golgi-associated vesicle TAS 10823941
GO:0016021 integral component of membrane IEA --
GO:0033162 melanosome membrane TAS --
genes like me logo Genes that share ontologies with TYR: view

Pathways for TYR Gene

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

Pathways by source for TYR Gene

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

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

Compounds for TYR Gene

(20) HMDB Compounds for TYR Gene

Compound Synonyms Cas Number PubMed IDs
(S)-3-Hydroxy-N-methylcoclaurine
  • 3'-Hydroxy-N-methyl-(S)-coclaurine
Not Available
3,4-Dihydroxy-trans-cinnamate
  • trans-Caffeate
501-16-6
4-Hydroxycinnamic acid
  • 3-(4-Hydroxyphenyl)-2-propenoate
7400-08-0
5,6-Dihydroxyindole
  • DHI
3131-52-0
Carbon dioxide
  • Carbon oxide
124-38-9

(4) Drugbank Compounds for TYR Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Azelaic Acid
  • Anchoic acid
123-99-9 target inhibitor
Mimosine
  • L-Mimosine
500-44-7 target inhibitor
Monobenzone
  • Benzoquin
103-16-2 target inhibitor
NADH
  • beta-DPNH
606-68-8 target

(147) Novoseek inferred chemical compound relationships for TYR Gene

Compound -log(P) Hits PubMed IDs
dopaquinone 92.5 30
dopachrome 91.8 54
kojic acid 90.5 53
o-quinone 88.8 26
eumelanin 86.3 18
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:

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) (25.6) and Skin - Sun Exposed (Lower leg) (22.1).

SOURCE GeneReport for Unigene cluster for TYR Gene Hs.503555

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

Orthologs for TYR Gene

This gene was present in the common ancestor of chordates.

Orthologs for TYR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TYR 36
  • 99.62 (n)
  • 99.62 (a)
TYR 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TYR 36
  • 86.2 (n)
  • 87.15 (a)
TYR 37
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TYR 36
  • 89.15 (n)
  • 88.44 (a)
TYR 37
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tyr 36
  • 84.06 (n)
  • 86.39 (a)
Tyr 16
Tyr 37
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TYR 37
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TYR 37
  • 75 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tyr 36
  • 83.68 (n)
  • 87.33 (a)
chicken
(Gallus gallus)
Aves TYR 36
  • 72.54 (n)
  • 73.67 (a)
TYR 37
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TYR 37
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tyr 36
  • 67.81 (n)
  • 69.07 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12134 36
zebrafish
(Danio rerio)
Actinopterygii tyr 36
  • 61.49 (n)
  • 61.55 (a)
tyr 37
  • 60 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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

Selected 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

Relevant External Links for TYR Gene

HapMap Linkage Disequilibrium report
TYR
Human Gene Mutation Database (HGMD)
TYR
Locus Specific Mutation Databases (LSDB)
TYR

Disorders for TYR Gene

(5) OMIM Diseases for TYR Gene (606933)

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.

(87) Novoseek inferred disease relationships for TYR Gene

Disease -log(P) Hits PubMed IDs
albinism oculocutaneous 92.2 45
oculocutaneous albinism, tyrosinase-negative 91.7 20
melanoma 91.2 254
albinism 86.4 17
melanoma b16 81.6 32

Relevant External Links for TYR

GeneTests
TYR
GeneReviews
TYR
Genetic Association Database (GAD)
TYR
Human Genome Epidemiology (HuGE) Navigator
TYR
genes like me logo Genes that share disorders with TYR: view

Publications for TYR Gene

  1. Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions. (PMID: 1642278) Tripathi R.K. … Spritz R.A. (Am. J. Med. Genet. 1992) 3 4 23
  2. A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism. (PMID: 1711223) Chintamaneni C.D. … Kwon B.S. (Proc. Natl. Acad. Sci. U.S.A. 1991) 3 4 23
  3. A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism. (PMID: 1970634) Giebel L.B. … Spritz R.A. (Proc. Natl. Acad. Sci. U.S.A. 1990) 3 4 23
  4. Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel. (PMID: 8128955) Gershoni-Baruch R. … Spritz R.A. (Am. J. Hum. Genet. 1994) 3 4 23
  5. Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1). (PMID: 9259202) Spritz R.A. … Levin A.V. (Hum. Mutat. 1997) 3 4 23

Products for TYR Gene

  • Addgene plasmids for TYR

Sources for TYR Gene

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