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TYR Gene

protein-coding   GIFtS: 70
GCID: GC11P088911

Tyrosinase

  See TYR-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
tyrosinase1 2     ATN2 5
Oculocutaneous Albinism IA1 2     CMM82 5
Monophenol Monooxygenase2 3     OCA1A2 5
Tumor Rejection Antigen AB2 3     SHEP32 5
LB24-AB2 3     OCA12
SK29-AB2 3     OCAIA2
EC 1.14.18.13 8     

External Ids:    HGNC: 124421   Entrez Gene: 72992   Ensembl: ENSG000000774987   OMIM: 6069335   UniProtKB: P146793   

Export aliases for TYR gene to outside databases

Previous GC identifers: GC11P091234 GC11P090457 GC11P089095 GC11P088598 GC11P088550 GC11P085151


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include copper ion binding and protein homodimerization activity. An important paralog of this gene is TYRP1.

UniProtKB/Swiss-Prot: TYRO_HUMAN, P14679
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

Gene Wiki entry for TYR (Tyrosinase) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NC_018922.2  NT_033899.9  
Regulatory elements:
   Regulatory transcription factor binding sites in the TYR gene promoter:
         STAT1   p53   Bach2   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   STAT5A   Ik-3   FOXJ2 (long isoform)   STAT3   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTYR promoter sequence
   Search Chromatin IP Primers for TYR

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TYR


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q14.3   Ensembl cytogenetic band:  11q14.3   HGNC cytogenetic band: 11q14.3

TYR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TYR gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P088911:  view genomic region     (about GC identifiers)

Start:
88,910,620 bp from pter      End:
89,028,927 bp from pter
Size:
118,308 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: TYRO_HUMAN, P14679 (See protein sequence)
Recommended Name: Tyrosinase precursor  
Size: 529 amino acids; 60393 Da
Cofactor: Binds 2 copper ions per subunit
Sequence caution: Sequence=AAA61241.1; Type=Erroneous initiation; Sequence=CAA68756.1; Type=Erroneous initiation;
Secondary accessions: Q15675 Q15676 Q15680 Q8TAK4 Q9BYY0 Q9BZX1
Alternative splicing: 2 isoforms:  P14679-1   P14679-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TYR: NX_P14679

Explore proteomics data for TYR at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn86, Asn111, Asn161, Asn230, Asn337, Asn371
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for TYR (P14679) (see all 15)
     PLYRNGD  SQSSMHN  KECCPPW  NAPIGHN 


    See TYR Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000363.1  
    ENSEMBL proteins: 
     ENSP00000263321  

    TYR Human Recombinant Protein Products:

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    antibodies-online proteins for TYR (4 products) 

     
    antibodies-online peptides for TYR

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR002227 Tyrosinase
     IPR008922 Unchr_di-copper_centre

    Graphical View of Domain Structure for InterPro Entry P14679

    ProtoNet protein and cluster: P14679

    1 Blocks protein domain: IPB002227 Tyrosinase copper-binding domain signature

    UniProtKB/Swiss-Prot: TYRO_HUMAN, P14679
    Similarity: Belongs to the tyrosinase family


    Find genes that share domains with TYR           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TYRO_HUMAN, P14679
    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
    Catalytic activity: 2 L-dopa + O(2) = 2 dopaquinone + 2 H(2)O
    Catalytic activity: L-tyrosine + O(2) = dopaquinone + H(2)O
    Induction: Increased expression after UVB irradiation

         Genatlas biochemistry entry for TYR:
    tyrosinase,copper dependent (monophenol monooxygenase),homologous to mouse albino,melanin production

         Enzyme Number (IUBMB): EC 1.14.18.11 2

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004503monophenol monooxygenase activity IDA11092760
    GO:0005507copper ion binding IMP11092760
    GO:0005515protein binding IPI16162817
    GO:0016491oxidoreductase activity ----
    GO:0042803protein homodimerization activity ISS--
         
    Find genes that share ontologies with TYR           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for TYR:
     Decreased melanin production 

         Selected MGI mutant phenotypes (inferred from 115 alleles(MGI details for Tyr) (see all 20):
     behavior/neurological  cardiovascular system  cellular  embryogenesis  endocrine/exocrine gland 
     growth/size/body  homeostasis/metabolism  immune system  integument  limbs/digits/tail 
     mortality/aging  nervous system  no phenotypic analysis  normal  pigmentation 

    Find genes that share phenotypes with TYR           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for TYR

    miRNA
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    Addgene plasmids for TYR 

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    eBioscience FlowRNA Probe Sets ( VA6-11569) for TYR 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TYRO_HUMAN, P14679: Melanosome membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    vacuole5
    golgi apparatus4
    cytoskeleton3
    extracellular3
    nucleus3
    plasma membrane3
    chloroplast2
    cytosol2
    endoplasmic reticulum2
    endosome2
    mitochondrion2
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA11092760
    GO:0005764lysosome TAS11092760
    GO:0005798Golgi-associated vesicle TAS10823941
    GO:0016021integral component of membrane IEA--
    GO:0033162melanosome membrane IEA--

    Find genes that share ontologies with TYR           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for TYR About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1(S)-reticuline biosynthesis II
    (S)-reticuline biosynthesis II
    L-dopachrome biosynthesis0.00
    2Metabolism
    Metabolic pathways0.38
    3Phenylalanine metabolism
    Tyrosine metabolism0.36
    4Basal cell carcinoma
    Melanogenesis0.32
    5Tyrosine metabolism p.1 dopamine
    Tyrosine metabolism p.1 dopamine


    Find genes that share SuperPaths with TYR           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for TYR
        Glucose / Energy Metabolism

    1 GeneGo (Thomson Reuters) Pathway for TYR
        Tyrosine metabolism p.1 (dopamine)

    3 BioSystems Pathways for TYR
        L-dopachrome biosynthesis
    (S)-reticuline biosynthesis II
    Dopamine metabolism



    4 Kegg Pathways  (Kegg details for TYR):
        Tyrosine metabolism
    Riboflavin metabolism
    Metabolic pathways
    Melanogenesis

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TYR: 
              Cell Lineage Identification in human mouse rat
              Terminal Differentiation Markers in human mouse rat
              Amino Acid Metabolism II in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TYR

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    Selected Interacting proteins for TYR (P146793 ENSP000002633214) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TYRP1P176433, ENSP000003735704I2D: score=2 STRING: ENSP00000373570
    DDCENSP000003506164STRING: ENSP00000350616
    GOT1ENSP000003595394STRING: ENSP00000359539
    GOT2ENSP000002452064STRING: ENSP00000245206
    IL4I1ENSP000003425574STRING: ENSP00000342557
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006583melanin biosynthetic process from tyrosine TAS7704033
    GO:0006726eye pigment biosynthetic process TAS7704033
    GO:0007601visual perception TAS7704033
    GO:0008152metabolic process ----
    GO:0008283cell proliferation IEA--

    Find genes that share ontologies with TYR           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for TYR
      Browse compounds at ApexBio 

    Browse Tocris compounds for TYR (TYRO)

    Selected HMDB Compounds for TYR (see all 20)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Dihydrobiopterin(S-(R*,S*))-2-amino-6-(1,2-dihydroxypropyl)-7,8-dihydro-4(1H)-Pteridinone (see all 15)6779-87-915555584
    Tetrahydrobiopterin(1R,2S)-(2-Amino-3,4,5,6,7,8-hexahydro-4-oxo-6-pteridinyl)-1,2-propandiol (see all 11)17528-72-27826365
    (S)-3-Hydroxy-N-methylcoclaurine3'-Hydroxy-N-methyl-(S)-coclaurine (see all 2)----
    3,4-Dihydroxy-trans-cinnamatetrans-Caffeate (see all 2)501-16-6--
    4-Hydroxycinnamic acid3-(4-Hydroxyphenyl)-2-propenoate (see all 36)7400-08-0--
    5,6-DihydroxyindoleDHI;dopaminochrome (see all 2)3131-52-0--
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    CopperCu (see all 2)7440-50-8--
    DL-Dopa2-Amino-3-(3,4-dihydroxyphenyl)propanoate (see all 19)63-84-3--
    Dopaquinoneo-Dopaquinone 4430-97-1--

    4 DrugBank Compounds for TYR    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Azelaic AcidAnchoic acid (see all 7)123-99-9targetinhibitor4004885 2114832 448162 2963038
    MimosineL-Mimosine (see all 6)500-44-7targetinhibitor6234942 16750372 15577244 3094574
    NADHbeta-DPNH (see all 18)606-68-8target--16790533 17292452
    MonobenzoneBenzoquin (see all 13)103-16-2targetinhibitor19159217

    Selected Novoseek inferred chemical compound relationships for TYR gene (see all 147)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dopaquinone 92.5 34 8433004 (2), 7945390 (1), 11744399 (1), 16392817 (1) (see all 29)
    dopachrome 91.8 65 11434569 (3), 11851878 (3), 8126111 (3), 7526730 (3) (see all 39)
    kojic acid 90.5 62 19884780 (3), 9523332 (2), 19700313 (2), 15997128 (2) (see all 40)
    o-quinone 88.8 27 9511473 (2), 9158692 (2), 11341938 (2), 15620894 (1) (see all 23)
    eumelanin 86.3 25 16524431 (2), 11171088 (2), 1655007 (2), 11799132 (1) (see all 15)
    4-s-cysteaminylphenol 85.1 29 2127097 (3), 1555210 (3), 9260870 (3), 1997095 (2) (see all 10)
    arbutin 84.3 47 8632348 (4), 9523330 (4), 1920891 (3), 12843585 (3) (see all 22)
    levodopa 84.3 265 11124258 (4), 18670186 (3), 8064113 (3), 9266600 (3) (see all 99)
    n-acetyl-4-s-cysteaminylphenol 83.5 14 7577578 (3), 1555210 (3), 1929460 (1), 11118049 (1) (see all 5)
    4-tert-butylcatechol 83.3 17 17868943 (3), 8841378 (2), 1519764 (1), 10761994 (1) (see all 8)



    Find genes that share compounds with TYR           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TYR gene: 
    NM_000372.4  

    Unigene Cluster for TYR:

    Tyrosinase
    Hs.503555  [show with all ESTs]
    Unigene Representative Sequence: M27160
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000263321(uc001pcs.3) ENST00000526139 ENST00000528243
    miRNA
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    Additional mRNA sequence: 

    AB775899.1 AB775900.1 AB775901.1 BC027179.1 J03581.1 M27160.1 M74314.1 S66645.1 
    U01873.1 Y00819.1 

    1 DOTS entry:

    DT.113443 

    Selected AceView cDNA sequences (see all 69):

    BQ424558 BU154819 BU190117 BU156904 U01873 BQ678960 BQ439755 CA396680 
    BU191334 BG575202 BM453335 NM_000372 BU732939 M27160 H96875 BU183039 
    S66645 BQ422702 BM707844 BG763817 BQ424642 BQ677071 BQ680086 BU179860 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TYR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGAAAGAGG
    TYR Expression
    About this image


    TYR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Melanocytes (Integumentary System)    fully expand to see all 5 entries
             Melanocytes-like cells
             Human EpiDermal Melanocytes-medium (HEM-m)   
     
     Eye (Sensory Organs)    fully expand to see all 3 entries
             Retinal Pigmented Epithelium Progenitor Cells Retinal Pigmented Epithelium
             Mature retinal pigmented epithelium cells
     
     Epidermis (Integumentary System)    fully expand to see all 3 entries
             Human EpiDermal Melanocytes-medium (HEM-m)   
     
     NULL (Sensory Organs)    fully expand to see all 2 entries
             Mature retinal pigmented epithelium cells
             skin 1 ; melanocytes   
     
     Epithelial Cells
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
    TYR Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TYR Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.503555
        Pathway & Disease-focused RT2 Profiler PCR Arrays including TYR: 
              Cell Lineage Identification in human mouse rat
              Terminal Differentiation Markers in human mouse rat
              Amino Acid Metabolism II in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TYR

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of chordates.

    Orthologs for TYR gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tyr1 , 5 tyrosinase1, 5 84.06(n)1
    86.39(a)1
      7 (49.01 cM)5
    221731  NM_011661.41  NP_035791.11 
     874274055 
    chicken
    (Gallus gallus)
    Aves TYR1 tyrosinase (oculocutaneous albinism IA) 72.54(n)
    73.67(a)
      373971  NM_204160.1  NP_989491.1 
    lizard
    (Anolis carolinensis)
    Reptilia TYR6
    tyrosinase
    74(a)
    1 ↔ 1
    3(199045604-199124140)
    African clawed frog
    (Xenopus laevis)
    Amphibia AB108529.12   -- 77.44(n)    AB108529.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tyr2 tyrosinase 72.04(n)   30207  AF542067.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for TYR gene
    TYRP12  DCT2  
    4 SIMAP similar genes for TYR using alignment to 8 protein entries:     TYRO_HUMAN (see all proteins):
    TYRL    DCT    TRP-2    TYRP1

    Find genes that share paralogs with TYR           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for TYR
    PGOHUM00000257815


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    TYRO_HUMAN, P14679: Genetic variants in TYR define the skin/hair/eye pigmentation variation locus 3 (SHEP3)
    [MIM:601800]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation,
    with a broad normal range that is subject to substantial geographic stratification. In the case of skin,
    individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the
    majority of variation in human eye and hair color is found among individuals of European ancestry, with most
    other human populations fixed for brown eyes and black hair
    TYRO_HUMAN, P14679: 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


    Selected SNPs for TYR (see all 2917)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289408781,2,,4
    CAlbinism, oculocutaneous, 1A (OCA1A)4 pathogenic188780916(+) CGGGGA/GCAGGA 2 D G mis1 ese30--------
    rs617531801,2,,4
    CAlbinism, oculocutaneous, 1A (OCA1A)4 pathogenic188780931(+) CTGTGA/GCCAGC 2 D G mis10--------
    rs289408791,2,,4
    CAlbinism, oculocutaneous, 1A (OCA1A)4 pathogenic188780955(+) TTCCTA/C/GTCAGA 2 Y C mis1 ese30--------
    rs617531841,2,,4
    CAlbinism, oculocutaneous, 1A (OCA1A)4 untested188781020(+) ATGACC/TGGGAG 2 R W mis10--------
    rs617531851,2,,4
    CAlbinism, oculocutaneous, 1A (OCA1A)4 pathogenic188781021(+) TGACCG/AGGAGT 2 /Q /R mis11Minor allele frequency- A:0.00NA 4544
    rs289408761,2,,4
    CAlbinism, oculocutaneous, 1A (OCA1A)4 pathogenic188781033(+) GTGGCC/TTTCCG 2 P L mis1 ese30--------
    rs289408771,2,,4
    CAlbinism, oculocutaneous, 1A (OCA1A)4 pathogenic188781056(+) GGACCC/TGCCAG 2 R C mis1 ese30--------
    rs1384876951,2,,4
    CAlbinism, oculocutaneous, 1A (OCA1A)4 --88781320(+) TCTTTG/TTCTGG 2 V F mis10--------
    rs617543621,2,,4
    CAlbinism, oculocutaneous, 1A (OCA1A)4 untested188781404(+) AAGCAA/CCAGCT 2 T P mis10--------
    rs289408801,2,,4
    CAlbinism, oculocutaneous, 1A (OCA1A)4 pathogenic188781407(+) CACCAA/GCTTTT 2 T A mis10--------

    HapMap Linkage Disequilibrium report for TYR (88910620 - 89028927 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for TYR (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv989571CNV Deletion20482838
    esv3450CNV Deletion18987735
    esv2744880CNV Deletion23290073
    esv2660364CNV Deletion23128226
    esv27246CNV Loss19812545
    nsv39232CNV Loss16902084
    esv996249CNV Loss20482838
    dgv165n27CNV Loss19166990
    nsv469976CNV Gain18288195
    nsv468781CNV Gain19166990

    Human Gene Mutation Database (HGMD): TYR
    Locus Specific Mutation Databases (LSDB): TYR

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TYR
    DNA2.0 Custom Variant and Variant Library Synthesis for TYR

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606933   
    OMIM disorders: 203100  103470  606952  601800  
    UniProtKB/Swiss-Prot: TYRO_HUMAN, P14679
  • 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. 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. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • Selected diseases for TYR (see all 23):    
    About MalaCards
    oculocutaneous albinism    minimal pigment oculocutaneous albinism type 1    oculocutaneous albinism type 1    oculocutaneous albinism type 1b
    waardenburg syndrome/albinism, digenic    albinism    halo nevi    vogt-koyanagi-harada disease
    waardenburg syndrome/ocular albinism, digenic    melanoma, cutaneous malignant 8    amelanotic melanoma    retroperitoneal sarcoma
    skin melanoma    juvenile xanthogranuloma    waardenburg syndrome type 2    chediak-higashi syndrome
    oculocutaneous albinism type 2    vitiligo    shipyard eye    glaucoma, congenital

    10 diseases from the University of Copenhagen DISEASES database for TYR:
    Melanoma     Oculocutaneous albinism     Vitiligo     Microphthalmia
    Ocular albinism     Pain agnosia     Phenylketonuria     Vaccinia
    Skin cancer     Shipyard eye

    Find genes that share disorders with TYR           About GenesLikeMe

    Selected Novoseek inferred disease relationships for TYR gene (see all 87)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    albinism oculocutaneous 92.2 58 20447099 (4), 1498098 (2), 18683130 (2), 15635296 (2) (see all 35)
    oculocutaneous albinism, tyrosinase-negative 91.7 27 8618053 (2), 1832718 (2), 10929771 (2), 9059668 (1) (see all 17)
    melanoma 91.2 786 9118024 (5), 7667256 (5), 18791269 (5), 10360670 (4) (see all 99)
    albinism 86.4 24 1476926 (2), 8433006 (2), 11153699 (2), 1693779 (1) (see all 14)
    melanoma b16 81.6 37 9872567 (2), 17397179 (2), 1920891 (2), 19814867 (2) (see all 28)
    metastatic melanoma 81.2 39 15103749 (2), 16252260 (2), 9456433 (1), 11178974 (1) (see all 35)
    melanoma amelanotic 79.4 23 9177196 (2), 11775059 (2), 1903481 (1), 19133143 (1) (see all 19)
    hyperpigmentation 79.2 17 16392817 (1), 20026160 (1), 12372097 (1), 7662120 (1) (see all 18)
    vitiligo 78.1 74 9204957 (7), 10206048 (7), 10469315 (5), 8697641 (4) (see all 28)
    microphthalmia 76.6 52 11145253 (4), 9700169 (4), 12470134 (3), 10707962 (3) (see all 33)

    GeneTests: TYR
    GeneReviews: TYR
    Genetic Association Database (GAD): TYR
    Human Genome Epidemiology (HuGE) Navigator: TYR (166 documents)

    Export disorders for TYR gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TYR gene, integrated from 10 sources (see all 1399):
    (articles sorted by number of sources associating them with TYR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A genomewide association study of skin pigmentation in a South Asian population. (PubMed id 17999355)1, 2, 4, 9 Stokowski R.P....Cox D.R. (Am. J. Hum. Genet. 2007)
    2. Genetic determinants of hair, eye and skin pigmentation in Europeans. (PubMed id 17952075)1, 2, 4 Sulem P.... Stefansson K. (Nat. Genet. 2007)
    3. Tyrosinase gene mutations associated with type IB ('yellow') oculocutaneous albinism. (PubMed id 1903591)1, 2, 4 Giebel L.B.... Spritz R.A. (Am. J. Hum. Genet. 1991)
    4. The tyrosinase gene in gorillas and the albinism of 'Snowflake'. (PubMed id 11153699)1, 2, 9 Martinez-Arias R.... Bertranpetit J. (Pigment Cell Res. 2000)
    5. Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism. (PubMed id 19060277)1, 4, 9 GrA...Rosenberg T. (amp 2009)
    6. Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. (PubMed id 20410501)1, 4, 9 Jin Y....Spritz R.A. (N. Engl. J. Med. 2010)
    7. A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism. (PubMed id 19865097)1, 4, 9 Wei A....Li W. (J. Invest. Dermatol. 2010)
    8. Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma. (PubMed id 19710684)1, 4, 9 Duffy D.L....Montgomery G.W. (J. Invest. Dermatol. 2010)
    9. Contribution of genetic factors for melanoma susceptibility in sporadic US melanoma patients. (PubMed id 19320745)1, 4, 9 Council M.L....Bowcock A.M. (Exp. Dermatol. 2009)
    10. Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. (PubMed id 18463683)1, 4, 9 Hutton S.M. and Spritz R.A. (J. Invest. Dermatol. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7299 HGNC: 12442 AceView: TYR Ensembl:ENSG00000077498 euGenes: HUgn7299
    ECgene: TYR Kegg: 7299 H-InvDB: TYR

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TYR Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TYR Genetics and Cytogenetics in Oncology and Haematology
    Mutations of the TYR genehttp://www.retina-international.org/files/sci-news/tyrmut.htm
    Albinism database (ADB)http://albinismdb.med.umn.edu/oca1mut.html
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=TYR[genesymbol]
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/049
    Wikipedia http://en.wikipedia.org/wiki/Tyrosinase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TYR gene:
    Search GeneIP for patents involving TYR

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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