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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TYRP1 Gene

protein-coding   GIFtS: 64
GCID: GC09P012683

tyrosinase-related protein 1


(Previous symbols: TYRP, CAS2)
 Explore 51 diseases affiliated with
TYRP1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for TYRP1    

Aliases
for TYRP1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Tyrosinase-Related Protein 11 2 3     Melanoma Antigen Gp752 3
CAS21 2 3 5     TRP12 3
TRP1 2 3     DHICA Oxidase2 3
TYRP1 2 3     5,6-Dihydroxyindole-2-Carboxylic Acid Oxidase2
GP751 2 5     EC 1.14.18.-3
CATB1 2     TRP-13
OCA31 2     TYRRP3
B-PROTEIN1     EC 1.14.188
Catalase B2 3     EC 1.14.18.18
Glycoprotein 752 3     

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


Summaries
for TYRP1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for TYRP1:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_008413.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TYRP1 gene promoter:
         TBP   TFIID   ATF-2   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TYRP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for TYRP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
 12,710,274 bp from pter
Size:
 24,836 bases      Orientation:
 plus strand

Proteins
for TYRP1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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)
Subcellular location: 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)
Secondary accessions: P78468 P78469 Q13721 Q15679

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P17643

    • 4/8 DME Specific Peptides for TYRP1 (P17643) (see all 8)
     NAPIGHN  NDPIFVL  FVWTHYYS  NSVFSQWRV 

    TYRP1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

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    Uscn Proteins for TYRP1

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

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


    TYRP1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for TYRP1

    Protein Domains /
    Families
    for TYRP1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    TYRP1 for domains           About GeneDecksing

    3 InterPro domains/families:
     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 family: IPB002227 Tyrosinase copper-binding domain signature

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


    Function
    for TYRP1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

         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

    miRNA
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    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005507copper ion binding IEA--
    GO:0005515protein binding IPI19841138
    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--
    GO:0046982protein heterodimerization activity ISS--


    TYRP1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for TYRP1:
     Increased G2M DNA content 

    Animal Models:
         13 MGI mutant phenotypes (inferred from 56 alleles) (MGI details for Tyrp1):
     behavior/neurological  craniofacial  growth/size  hearing/vestibular/ear  homeostasis/metabolism 
     integument  mortality/aging  nervous system  pigmentation  reproductive system 
     skeleton  tumorigenesis  vision/eye 

    TYRP1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for TYRP1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Direct p53 effectors
    		Direct p53 effectors1.00
    2Tyrosine metabolism
    		Tyrosine metabolism1.00
    3superoxide radicals degradation
    		superoxide radicals degradation1.00
    4ethanol degradation II
    		ethanol degradation IV0.57
    5Metabolism
    		Metabolic pathways0.38

    Pathway sources
    See GeneCards unified pathways
    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


    TYRP1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TYRP1

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

    5/11 Interacting proteins for TYRP1 (P176432, 3 ENSP000003735704) via UniProtKB, MINT, STRING, and/or I2D (see all 11)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    GIPC1O149082, 3, ENSP000003406984MINT-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): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006582melanin metabolic process ----
    GO:0030318melanocyte differentiation IEA--
    GO:0032438melanosome organization IEA--
    GO:0042438melanin biosynthetic process IEA--
    GO:0043438acetoacetic acid metabolic process IEA--


    TYRP1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for TYRP1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TYRP1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    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--
    10/36 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about TYRP1 

    Transcripts
    for TYRP1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    SwitchGear 3'UTR luciferase reporter plasmid: TYRP1 3' UTR sequence
    Inhib. RNA
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    Additional cDNA 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 

    24/110 AceView cDNA sequences (see all 110):

    CA397509 AA318325 CA388731 BX404394 AA317583 AI288506 AI498657 CA388692 
    T16552 CA393634 CA391095 BU726399 CA391805 CA395085 BM722559 AA227492 
    CD676414 CA391262 BX092304 N23345 CA395870 CA388871 CD676415 CA394684 

    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

    Expression
    for TYRP1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TYRP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTTATACTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    TYRP1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeRetinal Pigmented EpitheliumRetinal Pigmented Epithelium Progenitor CellsRetinal Pigmented Epithelium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    Mesendoderm (Derivation and sorti...)
    Podocalyxin+, CD24+, GCTM2 (low) (Derivation and sorti...)

    See TYRP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TYRP1

    SOURCE GeneReport for Unigene cluster: Hs.270279

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

        SABiosciences Expression via Pathway-Focused PCR Arrays including TYRP1: 
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    In Situ
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    Orthologs
    for TYRP1 gene

    (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
    This gene was present in the common ancestor of chordates.

    Orthologs for TYRP1 gene from 5/14 species (see all 14)    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_031202.21  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
    		 --
    		 74(a)
    		 1 ↔ 1
    		 2(33462980-33481653)
    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 65.68(n)
    69.35(a)    		   437022  NM_001002749.2  NP_001002749.1 


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

    Paralogs
    for TYRP1 gene

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

    TYRP1 for paralogs           About GeneDecksing



    Genomic Variants
    for TYRP1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: TYRP1_HUMAN, P17643
    Polymorphism: 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


    10/526 NCBI SNPs in TYRP1 are shown (see all 526)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 9 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1480168511,2
    		--12691489(+) CACTTA/GGGTTG 1 -- us2k10--------
    rs1825329521,2
    		--12691559(+) TCAATA/GTATTG 1 -- us2k10--------
    rs1869072211,2
    		--12691591(+) TATCTA/CGCAGT 1 -- us2k10--------
    rs123777031,2
    		C,F,--12691618(+) atagtG/Agctca 1 -- us2k14Minor allele frequency- A:0.42NA CSA 126
    rs617584001,2
    		C,--12691693(+) ACCAAC/TGCTGT 1 -- us2k11Minor allele frequency- T:0.50NA 2
    rs1909246741,2
    		--12691754(+) ATTTTA/GGACAT 1 -- us2k10--------
    rs1504601061,2
    		--12691796(+) CACAAC/TAGTTT 1 -- us2k10--------
    rs792788271,2
    		C,--12691835(+) TGTTGA/GGTATC 1 -- us2k12Minor allele frequency- G:0.21WA 120
    rs758238111,2
    		--12691909(+) CCCATG/TTTTTT 1 -- us2k10--------
    rs1834484191,2
    		--12691914(+) TTTTTA/TATTGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for TYRP1 (12685439 - 12710274 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for TYRP1
         2 CNVs: 3762 5261
    Human Gene Mutation Database (HGMD): TYRP1

    Locus Specific Mutation Databases (LSDB): TYRP1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TYRP1
    DNA2.0 Custom Variant and Variant Library Synthesis for TYRP1

    Disorders / Diseases
    for TYRP1 gene

    (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.)
    About This Section
    TYRP1 for disorders           About GeneDecksing

    OMIM gene information: 115501   
    OMIM disorders: 203290  
    UniProtKB/Swiss-Prot: TYRP1_HUMAN, P17643
  • Defects in TYRP1 are the cause of albinism oculocutaneous type 3 (OCA3) [MIM:203290]; also known as Rufous
    • oculocutaneous albinism. 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

    20/51 diseases for TYRP1 (see all 51):    About MalaCards
    rufous oculocutaneous albinism    oculocutaneous albinism    albinism    vogt-koyanagi-harada disease
    hermansky-pudlak syndrome    oculocutaneous albinism type 4    chediak-higashi syndrome    eosinophilia-myalgia syndrome
    oculocutaneous albinism type 3    sympathetic ophthalmia    melanoma    waardenburg's syndrome
    lichen sclerosus    proliferative vitreoretinopathy    ocular albinism    amelanotic melanoma
    cutaneous malignant melanoma    atrial fibrillation    congenital nystagmus    nystagmus

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

    10/29 Novoseek 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

    Publications
    for TYRP1 gene

    (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)
    About This Section

    PubMed articles for TYRP1 gene, integrated from 9 sources (see all 360):
    (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. (1998)
    2. Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient. (PubMed id 16704458)1, 2, 9 Rooryck C.... Arveiler B. (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. (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. (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. (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. (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. (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. (1990)
    9. Melanesian blond hair is caused by an amino acid change in TYRP1. (PubMed id 22556244)1, 2 Kenny E.E....Myles S. (2012)
    10. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)1, 2 Chi A....Hunt D.F. (2006)

    External Searches for TYRP1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    Genome Databases showing TYRP1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7306 HGNC: 12450 AceView: TYRP1 Ensembl:ENSG00000107165 euGenes: HUgn7306
    ECgene: TYRP1 Kegg: 7306 H-InvDB: TYRP1

    Other Databases showing TYRP1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing TYRP1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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

    Intellectual Property
    for TYRP1 gene

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

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