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TYRP1 Gene

protein-coding   GIFtS: 65
GCID: GC09P012683

Tyrosinase-Related Protein 1


(Previous symbols: TYRP, CAS2)
  See TYRP1-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
Tyrosinase-Related Protein 11 2 3     5,6-Dihydroxyindole-2-Carboxylic Acid Oxidase2
CAS21 2 3 5     CATB2
TYRP1 2 3     OCA32
Catalase B2 3     b-PROTEIN2
Glycoprotein 752 3     EC 1.14.18.-3
Melanoma Antigen Gp752 3     TRP-13
TRP2 3     TYRRP3
TRP12 3     SHEP115
DHICA Oxidase2 3     EC 1.14.188
GP752 5     EC 1.14.18.18

External Ids:    HGNC: 124501   Entrez Gene: 73062   Ensembl: ENSG000001071657   OMIM: 1155015   UniProtKB: P176433   

Export aliases for TYRP1 gene to outside databases

Previous GC identifers: GC09P012859 GC09P012674


(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 TYRP1 Gene:
This gene encodes a melanosomal enzyme that belongs to the tyrosinase family and plays an important role in the
melanin biosynthetic pathway. Defects in this gene are the cause of rufous oculocutaneous albinism and
oculocutaneous albinism type III. (provided by RefSeq, Mar 2009)

GeneCards Summary for TYRP1 Gene:
TYRP1 (tyrosinase-related protein 1) is a protein-coding gene. Diseases associated with TYRP1 include oculocutaneous albinism type 3, and skin/hair/eye pigmentation, variation in, 11. GO annotations related to this gene include copper ion binding and protein homodimerization activity. An important paralog of this gene is TYR.

UniProtKB/Swiss-Prot: TYRP1_HUMAN, P17643
Function: Oxidation of 5,6-dihydroxyindole-2-carboxylic acid (DHICA) into indole-5,6-quinone-2-carboxylic acid.
May regulate or influence the type of melanin synthesized

Gene Wiki entry for TYRP1 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_000009.11  NT_008413.19  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TYRP1 gene promoter:
         TBP   TFIID   ATF-2   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTYRP1 promoter sequence
   Search Chromatin IP Primers for TYRP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TYRP1


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

Entrez Gene cytogenetic band: 9p23   Ensembl cytogenetic band:  9p23   HGNC cytogenetic band: 9p23

TYRP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TYRP1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P012683:  view genomic region     (about GC identifiers)

Start:
12,685,439 bp from pter      End:
12,710,290 bp from pter
Size:
24,852 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TYRP1_HUMAN, P17643 (See protein sequence)
Recommended Name: 5,6-dihydroxyindole-2-carboxylic acid oxidase precursor  
Size: 537 amino acids; 60724 Da
Cofactor: Binds 2 copper ions per subunit (By similarity)
Secondary accessions: P78468 P78469 Q13721 Q15679

Explore the universe of human proteins at neXtProt for TYRP1: NX_P17643

Explore proteomics data for TYRP1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn96, Asn104, Asn181, Asn304, Asn350, Asn385
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for TYRP1 (P17643) (see all 8)
     NAPIGHN  NDPIFVL  FVWTHYYS  NSVFSQWRV 


    See TYRP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000541.1  
    ENSEMBL proteins: 
     ENSP00000419006   ENSP00000373570   ENSP00000370528   ENSP00000370529  

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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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    3 InterPro protein domains:
     IPR002227 Tyrosinase
     IPR008922 Unchr_di-copper_centre
     IPR015559 DiOHindole_carboxylic_A_Oxase

    Graphical View of Domain Structure for InterPro Entry P17643

    ProtoNet protein and cluster: P17643

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

    UniProtKB/Swiss-Prot: TYRP1_HUMAN, P17643
    Similarity: Belongs to the tyrosinase family


    Find genes that share domains with TYRP1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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: TYRP1_HUMAN, P17643
    Function: Oxidation of 5,6-dihydroxyindole-2-carboxylic acid (DHICA) into indole-5,6-quinone-2-carboxylic acid.
    May regulate or influence the type of melanin synthesized

         Genatlas biochemistry entry for TYRP1:
    tyrosinase-related protein 1,involved in melanogenesis

         Enzyme Numbers (IUBMB): EC 1.14.182 EC 1.14.18.-1 EC 1.14.18.12

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005507copper ion binding IEA--
    GO:0005515protein binding IPI11441007
    GO:0016491oxidoreductase activity ----
    GO:0016716oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen IEA--
    GO:0042803protein homodimerization activity ISS--
         
    Find genes that share ontologies with TYRP1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for TYRP1:
     Increased G2M DNA content 

         13 MGI mutant phenotypes (inferred from 57 alleles(MGI details for Tyrp1):
     behavior/neurological  craniofacial  growth/size/body  hearing/vestibular/ear  homeostasis/metabolism 
     integument  mortality/aging  nervous system  pigmentation  reproductive system 
     skeleton  tumorigenesis  vision/eye 

    Find genes that share phenotypes with TYRP1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TYRP1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TYRP1
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    1 qRT-PCR Assays for microRNA that regulate TYRP1:
    hsa-miR-3647-3p
    SwitchGear 3'UTR luciferase reporter plasmidTYRP1 3' UTR sequence
    Inhib. RNA
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    (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
    TYRP1_HUMAN, P17643: Melanosome membrane; Single-pass type I membrane protein (By similarity). Note=Located to
    mature stage III and IV melanosomes and apposed endosomal tubular membranes. Transported to pigmented melanosomes
    by the BLOC-1 complex (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    extracellular2
    lysosome2
    plasma membrane2
    vacuole2
    endoplasmic reticulum1
    golgi apparatus1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0010008endosome membrane IDA19841138
    GO:0016021integral component of membrane IEA--
    GO:0030669clathrin-coated endocytic vesicle membrane IDA19841138
    GO:0033162melanosome membrane ISS--
    GO:0042470melanosome ISS--

    Find genes that share ontologies with TYRP1           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 TYRP1 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1ethanol degradation II
    ethanol degradation IV0.57
    2Metabolism
    Metabolic pathways0.38
    3Phenylalanine metabolism
    Tyrosine metabolism0.36
    4Basal cell carcinoma
    Melanogenesis0.32
    5superoxide radicals degradation
    superoxide radicals degradation


    Find genes that share SuperPaths with TYRP1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for TYRP1
        ethanol degradation IV
    Direct p53 effectors
    superoxide radicals degradation



    3 Kegg Pathways  (Kegg details for TYRP1):
        Tyrosine metabolism
    Metabolic pathways
    Melanogenesis

    UniProtKB/Swiss-Prot: TYRP1_HUMAN, P17643
    Pathway: Pigment biosynthesis; melanin biosynthesis

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TYRP1: 

              Terminal Differentiation Markers in human mouse rat
              Amino Acid Metabolism II in human mouse rat
              Neurotoxicity in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TYRP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for TYRP1 (P176431, 2, 3 ENSP000003735704) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GIPC1O149081, 2, 3, ENSP000003406984EBI-7900408,EBI-373132 MINT-1784737 MINT-1784850 MINT-1784818 I2D: score=3 STRING: ENSP00000340698
    TYRP146793, ENSP000002633214I2D: score=2 STRING: ENSP00000263321
    DCTENSP000003927624STRING: ENSP00000392762
    SOD2ENSP000003371274STRING: ENSP00000337127
    TP53ENSP000002693054STRING: ENSP00000269305
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006582melanin metabolic process ----
    GO:0008152metabolic process ----
    GO:0030318melanocyte differentiation IEA--
    GO:0032438melanosome organization IEA--
    GO:0042438melanin biosynthetic process IEA--

    Find genes that share ontologies with TYRP1           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
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      Browse compounds at ApexBio 

    Browse Tocris compounds for TYRP1

    3 HMDB Compounds for TYRP1    About this table
    CompoundSynonyms CAS #PubMed Ids
    5,6-Dihydroxyindole-2-carboxylic acid5,6-Dhica (see all 10)4790-08-3--
    CopperCu (see all 2)7440-50-8--
    Melanin 8049-97-6--

    Selected Novoseek inferred chemical compound relationships for TYRP1 gene (see all 36)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dopachrome 92 38 11851878 (3), 8126111 (3), 8433006 (1), 8601447 (1) (see all 23)
    dhica 86.3 35 9758418 (6), 7761345 (2), 11041368 (2), 11171088 (2) (see all 8)
    eumelanin 83.7 19 8875952 (2), 11775055 (2), 8348959 (1), 7761345 (1) (see all 10)
    arbutin 62.5 4 10625956 (1), 9711535 (1), 9523330 (1)
    hmba 58.7 14 7615964 (3), 11310793 (2), 10080955 (2), 7855069 (1)
    levodopa 55.9 17 7971745 (6), 8950502 (1), 12753386 (1), 17691203 (1) (see all 6)
    dopaquinone 51.9 1 11041367 (1)
    kojic acid 40.2 2 10625956 (1)
    ibmx 39.4 2 7533905 (1), 9730320 (1)
    silver 37.7 19 7659683 (3), 12753397 (1), 8752668 (1), 15955111 (1) (see all 11)



    Find genes that share compounds with TYRP1           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 TYRP1 gene: 
    NM_000550.2  

    Unigene Cluster for TYRP1:

    Tyrosinase-related protein 1
    Hs.270279  [show with all ESTs]
    Unigene Representative Sequence: NM_000550
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000473763 ENST00000459790 ENST00000388918(uc003zkv.4) ENST00000381136
    ENST00000381142 ENST00000470909 ENST00000473504 ENST00000381137
    miRNA
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    hsa-miR-3647-3p
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    Inhib. RNA
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    Additional mRNA sequence: 

    AK297887.1 BC052608.1 CR407683.1 X51420.1 X51455.1 

    7 DOTS entries:

    DT.115716  DT.121165193  DT.100727752  DT.40115707  DT.91755847  DT.99991605  DT.426329 

    Selected AceView cDNA sequences (see all 110):

    BM722559 BF724562 BX092304 CA393634 AI288506 AA227492 CA391805 CA395085 
    BX404394 CA391095 CA388731 CA396245 CA391262 CA395870 AA318325 CA388871 
    CA394684 N23345 T16552 CD676414 CA397509 AI498657 AA317583 BU726399 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for TYRP1    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b
    SP1:                    -                                                         
    SP2:                                      -     -                                 
    SP3:                                                              -               
    SP4:                                                                              


    ECgene alternative splicing isoforms for TYRP1

    (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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    TYRP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTTATACTG
    TYRP1 Expression
    About this image


    TYRP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Melanocytes (Integumentary System)    fully expand to see all 5 entries
             Melanocytes-like cells
             Human EpiDermal Melanocytes-medium (HEM-m)   
     
     Epidermis (Integumentary System)    fully expand to see all 3 entries
             Human EpiDermal Melanocytes-medium (HEM-m)   
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Retinal Pigmented Epithelium Progenitor Cells Retinal Pigmented Epithelium
             Retina
     
     NULL (Uncategorized)    fully expand to see all 3 entries
             Vascular endothelial growth factor-induced embryoid bodies
             skin 1 ; melanocytes   
     
     Neurons
             Adult Dopaminergic Neurons Substantia Nigra pars Compacta
    TYRP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TYRP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.270279

    UniProtKB/Swiss-Prot: TYRP1_HUMAN, P17643
    Tissue specificity: Pigment cells

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TYRP1: 
              Terminal Differentiation Markers in human mouse rat
              Amino Acid Metabolism II in human mouse rat
              Neurotoxicity in human mouse rat

    Primer
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    In Situ
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    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for TYRP1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tyrp11 , 5 tyrosinase-related protein 11, 5 85.54(n)1
    85.29(a)1
      4 (37.89 cM)5
    221781  NM_031202.31  NP_112479.11 
     808341235 
    chicken
    (Gallus gallus)
    Aves TYRP11 tyrosinase-related protein 1 73.98(n)
    76.55(a)
      395913  NM_205045.1  NP_990376.1 
    lizard
    (Anolis carolinensis)
    Reptilia TYRP16
    tyrosinase-related protein 1
    75(a)
    1 ↔ 1
    2(33461430-33484128)
    African clawed frog
    (Xenopus laevis)
    Amphibia tyrp1-prov2 tyrosinase-related protein 1 76.25(n)    BC043815.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tyrp1b1 tyrosinase-related protein 1b 65.18(n)
    68.6(a)
      437022  NM_001002749.2  NP_001002749.1 


    ENSEMBL Gene Tree for TYRP1 (if available)
    TreeFam Gene Tree for TYRP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TYRP1 gene
    TYR2  DCT2  
    3 SIMAP similar genes for TYRP1 using alignment to 5 protein entries:     TYRP1_HUMAN (see all proteins):
    TRP-2    DCT    TYR

    Find genes that share paralogs with TYRP1           About GenesLikeMe



    (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
    TYRP1_HUMAN, P17643: Genetic variants in TYRP1 define the skin/hair/eye pigmentation variation locus 11 (SHEP11)
    [MIM:612271] and are responsible for variability in hair color linked to chromosome 9p23 in Melanesians. 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


    Selected SNPs for TYRP1 (see all 637)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0268284
    Albinism, oculocutaneous, 3 (OCA3)4--see VAR_0268282 R Q mis40--------
    rs1048941301,2
    C,Fpathogenic112689523(+) GAGATC/GAGAAG 2 S * stg11Minor allele frequency- G:0.00NA 4546
    rs2001608461,2
    Cuntested112692425(+) TGCACA/GGATGA 2 T syn10--------
    rs1480168511,2
    C--12685399(+) CACTTA/GGGTTG 1 -- us2k10--------
    rs1825329521,2
    --12685469(+) TCAATA/GTATTG 1 -- us2k10--------
    rs1869072211,2
    --12685501(+) TATCTA/CGCAGT 1 -- us2k10--------
    rs1909246741,2
    --12685664(+) ATTTTA/GGACAT 1 -- us2k10--------
    rs1504601061,2
    --12685706(+) CACAAC/TAGTTT 1 -- us2k10--------
    rs792788271,2
    C,F--12685745(+) TGTTGA/GGTATC 1 -- us2k12Minor allele frequency- G:0.21WA 120
    rs758238111,2
    --12685819(+) CCCATG/TTTTTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for TYRP1 (12685439 - 12710290 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for TYRP1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2422212CNV Duplication17116639
    nsv831513CNV Gain17160897
    nsv892572CNV Gain21882294
    esv557CNV CNV17122850
    essv18757CNV CNV17122850

    Human Gene Mutation Database (HGMD): TYRP1
    Locus Specific Mutation Databases (LSDB): TYRP1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TYRP1
    DNA2.0 Custom Variant and Variant Library Synthesis for TYRP1

    (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: 115501   
    OMIM disorders: 203290  612271  
    UniProtKB/Swiss-Prot: TYRP1_HUMAN, P17643
  • Albinism, oculocutaneous, 3 (OCA3) [MIM:203290]: An autosomal recessive disorder in which the
    biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Tyrosinase activity is normal and patients
    have only moderate reduction of pigment. The eyes present red reflex on transillumination of the iris, dilution
    of color of iris, nystagmus and strabismus. Darker-skinned individuals have bright copper-red coloration of the
    skin and hair. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 12 diseases for TYRP1:    
    About MalaCards
    oculocutaneous albinism type 3    skin/hair/eye pigmentation, variation in, 11    rufous oculocutaneous albinism    amelanotic melanoma
    sympathetic ophthalmia    oculocutaneous albinism type 4    vitiligo    esotropia
    oculocutaneous albinism    albinism    lichen sclerosus    melanoma

    6 diseases from the University of Copenhagen DISEASES database for TYRP1:
    Oculocutaneous albinism     Hermansky-Pudlak syndrome     Melanoma     Vitiligo
    Microphthalmia     Ocular albinism

    Find genes that share disorders with TYRP1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for TYRP1 gene (see all 29)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    albinism oculocutaneous 90.3 17 16704458 (2), 11775055 (2), 11917121 (1), 14996378 (1) (see all 11)
    melanoma 81 151 8789739 (4), 15214892 (4), 8618015 (4), 14643522 (4) (see all 75)
    hermansky-pudlak syndrome 79.9 1 11564171 (1)
    albinism 76.4 9 8433006 (1), 8651291 (1), 14722913 (1), 11574907 (1) (see all 6)
    melanoma b16 75.9 10 17650175 (1), 10077623 (1), 9447965 (1), 19110539 (1) (see all 7)
    microphthalmia 75.8 15 9447965 (3), 10080955 (2), 8752668 (1), 14632202 (1) (see all 10)
    vitiligo 74 16 9892944 (4), 11167683 (2), 17071589 (2), 11310791 (1) (see all 7)
    melanoma amelanotic 72.1 3 7886004 (1), 14634018 (1), 9877098 (1)
    hyperpigmentation 68.3 1 11979069 (1)
    waardenburgs syndrome 60.4 1 16280008 (1)

    Genetic Association Database (GAD): TYRP1
    Human Genome Epidemiology (HuGE) Navigator: TYRP1 (15 documents)

    Export disorders for TYRP1 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 TYRP1 gene, integrated from 10 sources (see all 366):
    (articles sorted by number of sources associating them with TYRP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequence and polymorphism study of the human TYRP1 gene encoding tyrosinase-related protein 1. (PubMed id 9434945)1, 2, 3 Box N.F....Sturm R.A. (Mamm. Genome 1998)
    2. Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient. (PubMed id 16704458)1, 2, 9 Rooryck C.... Arveiler B. (Pigment Cell Res. 2006)
    3. The melanoma antigen gp75 is the human homologue of the mouse b (brown) locus gene product. (PubMed id 2324688)1, 2, 9 Vijayasaradhi S.... Houghton A.N. (J. Exp. Med. 1990)
    4. DNA sequence variants in the tyrosinase-related protein 1 (TYRP1) gene are not associated with human pigmentary glaucoma. (PubMed id 12011806)1, 4, 9 Lynch S....Wiggs J.L. (Mol. Vis. 2002)
    5. Chromosomal structure of the human TYRP1 and TYRP2 loci and comparison of the tyrosinase-related protein gene family. (PubMed id 8530077)1, 2, 9 Sturm R.A.... Dunn I.S. (Genomics 1995)
    6. Downstream region of the human tyrosinase-related protein gene enhances its promoter activity. (PubMed id 1575733)1, 2, 9 Shibata K.... Shibahara S. (Biochem. Biophys. Res. Commun. 1992)
    7. Mapping the human CAS2 gene, the homologue of the mouse brown (b) locus, to human chromosome 9p22-pter. (PubMed id 1906272)1, 2, 9 Chintamaneni C.D....Kwon B.S. (Biochem. Biophys. Res. Commun. 1991)
    8. Murine and human b locus pigmentation genes encode a glycoprotein (gp75) with catalase activity. (PubMed id 1693779)1, 2, 9 Halaban R. and Moellmann G. (Proc. Natl. Acad. Sci. U.S.A. 1990)
    9. 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)
    10. 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)

    (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: 7306 HGNC: 12450 AceView: TYRP1 Ensembl:ENSG00000107165 euGenes: HUgn7306
    ECgene: TYRP1 Kegg: 7306 H-InvDB: TYRP1

    (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 TYRP1 Pharmacogenomics, SNPs, Pathways
    Mutations of the TYRP1 genehttp://www.retina-international.org/files/sci-news/trp1mut.htm
    Albinism database (ADB)http://albinismdb.med.umn.edu/oca3mut.html

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TYRP1 gene:
    Search GeneIP for patents involving TYRP1

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



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