| Description | The gene encodes a protein, containing 537 amino acids, of molecular mass 60724 Da; it is an enzyme needing Cu++ as cofactor (binds 2 copper ions per subunit). |
| Expression | TYRP1 is mainly expressed in two cell types: (a) Melanocytes that are derived from neural crest cells colonizing within iris, cochlea, skin and choroids, and (b) Retinal pigment epithelial (RPE) cells that are derived from the optic cup. It has also been reported to be expressed in heart and ear (http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=TYRP1). Interestingly, expression of the gene in the following tissue types are evident by its existence in the corresponding cDNA libraries: brain, cerebrum, ear, embryonic tissue, eye, fetus, gastrointestinal tract, heart, kidney, mammary gland, nervous, retina, skin, stem cell and stomach (http://cgap.nci.nih.gov/Genes/GeneInfo?ORG=Hs&LLNO=7306). |
| Localisation | TYRP1 is a melanosomal membrane protein. |
| Function | TYRP1 acts a 5,6-dihydroxyindole-2-carboxylic acid (DHICA) oxidase converting DHICA to Indole 5,6-quinone carboxylic acid in the melanin biosynthesis pathway. It is also involved in maintaining the stability of tyrosinase protein, modulating its catalytic activity in eumelanin synthesis, in maintenance of melanosome structure and affects melanocyte proliferation and cell death. |
| Homology | Interspecies: Homolog to murine brown locus. Intraspecies : Homolog to tyrosinase family of proteins comprising of TYR, TYRP1 and DCT (TYRP2) |
| SNPs at miR-155 binding sites of TYRP1 explain discrepancy between mRNA and protein and refine TYRP1 prognostic value in melanoma |
| El Hajj P, Gilot D, Migault M, Theunis A, van Kempen LC, Salés F, Fayyad-Kazan H, Badran B, Larsimont D, Awada A, Bachelot L, Galibert MD, Ghanem G, Journe F |
| Br J Cancer 2015 Jun 30;113(1):91-8 |
| PMID 26068396 |
| |
| TYRP1 mRNA expression in melanoma metastases correlates with clinical outcome |
| Journe F, Id Boufker H, Van Kempen L, Galibert MD, Wiedig M, Salès F, Theunis A, Nonclercq D, Frau A, Laurent G, Awada A, Ghanem G |
| Br J Cancer 2011 Nov 22;105(11):1726-32 |
| PMID 22045183 |
| |
| Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians |
| Nan H, Kraft P, Hunter DJ, Han J |
| Int J Cancer 2009 Aug 15;125(4):909-17 |
| PMID 19384953 |
| |
| Nomenclature |
|---|
| HGNC (Hugo) | TYRP1 12450 |
| Cards |
|---|
| Atlas | TYRP1ID46370ch9p23 |
| Entrez_Gene (NCBI) | TYRP1 7306 tyrosinase related protein 1 |
| Aliases | CAS2; CATB; GP75; OCA3; |
| TRP; TRP1; TYRP; b-PROTEIN |
| GeneCards (Weizmann) | TYRP1 |
| Ensembl hg19 (Hinxton) | ENSG00000107165 [Gene_View] |
| Ensembl hg38 (Hinxton) | ENSG00000107165 [Gene_View] chr9:12693386-12710266 [Contig_View] TYRP1 [Vega] |
| ICGC DataPortal | ENSG00000107165 |
| TCGA cBioPortal | TYRP1 |
| AceView (NCBI) | TYRP1 |
| Genatlas (Paris) | TYRP1 |
| WikiGenes | 7306 |
| SOURCE (Princeton) | TYRP1 |
| Genetics Home Reference (NIH) | TYRP1 |
| Genomic and cartography |
|---|
| GoldenPath hg38 (UCSC) | TYRP1 - chr9:12693386-12710266 + 9p23 [Description] (hg38-Dec_2013) |
| GoldenPath hg19 (UCSC) | TYRP1 - 9p23 [Description] (hg19-Feb_2009) |
| Ensembl | TYRP1 - 9p23 [CytoView hg19] TYRP1 - 9p23 [CytoView hg38] |
| Mapping of homologs : NCBI | TYRP1 [Mapview hg19] TYRP1 [Mapview hg38] |
| OMIM | 115501 203290 612271 |
| Gene and transcription |
|---|
| Genbank (Entrez) | AK297887 AL600654 BC052608 CD679533 CR407683 |
| RefSeq transcript (Entrez) | NM_000550 |
| RefSeq genomic (Entrez) | |
| Consensus coding sequences : CCDS (NCBI) | TYRP1 |
| Cluster EST : Unigene | Hs.270279 [ NCBI ] |
| CGAP (NCI) | Hs.270279 |
| Alternative Splicing Gallery | ENSG00000107165 |
| Gene Expression | TYRP1 [ NCBI-GEO ] TYRP1 [ EBI - ARRAY_EXPRESS ]
TYRP1 [ SEEK ] TYRP1 [ MEM ] |
| Gene Expression Viewer (FireBrowse) | TYRP1 [ Firebrowse - Broad ] |
| SOURCE (Princeton) | Expression in : [Datasets] [Normal Tissue Atlas] [carcinoma Classsification] [NCI60] |
| Genevisible | Expression in : [tissues] [cell-lines] [cancer] [perturbations] |
| BioGPS (Tissue expression) | 7306 |
| GTEX Portal (Tissue expression) | TYRP1 |
| Protein : pattern, domain, 3D structure |
|---|
| UniProt/SwissProt | P17643 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction] |
| NextProt | P17643 [Sequence] [Exons] [Medical] [Publications] |
| With graphics : InterPro | P17643 |
| Splice isoforms : SwissVar | P17643 |
| Catalytic activity : Enzyme | 1.14.18.- [ Enzyme-Expasy ] 1.14.18.-1.14.18.- [ IntEnz-EBI ] 1.14.18.- [ BRENDA ] 1.14.18.- [ KEGG ] |
| PhosPhoSitePlus | P17643 |
| Domaine pattern : Prosite (Expaxy) | TYROSINASE_1 (PS00497) TYROSINASE_2 (PS00498) |
| Domains : Interpro (EBI) | DiOHindole_carboxylic_A_Oxase Tyrosinase_Cu-bd Unchr_di-copper_centre |
| Domain families : Pfam (Sanger) | Tyrosinase (PF00264) |
| Domain families : Pfam (NCBI) | pfam00264 |
| Conserved Domain (NCBI) | TYRP1 |
| DMDM Disease mutations | 7306 |
| Blocks (Seattle) | TYRP1 |
| Superfamily | P17643 |
| Human Protein Atlas | ENSG00000107165 |
| Peptide Atlas | P17643 |
| HPRD | 00283 |
| IPI | IPI00015913 IPI00930372 IPI00479738 IPI00947481 |
| Protein Interaction databases |
|---|
| DIP (DOE-UCLA) | P17643 |
| IntAct (EBI) | P17643 |
| FunCoup | ENSG00000107165 |
| BioGRID | TYRP1 |
| STRING (EMBL) | TYRP1 |
| ZODIAC | TYRP1 |
| Ontologies - Pathways |
|---|
| QuickGO | P17643 |
| Ontology : AmiGO | copper ion binding protein binding endosome membrane integral component of membrane oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen melanocyte differentiation clathrin-coated endocytic vesicle membrane melanosome organization melanosome membrane melanosome membrane melanin biosynthetic process melanin biosynthetic process melanosome protein homodimerization activity acetoacetic acid metabolic process protein heterodimerization activity positive regulation of melanin biosynthetic process oxidation-reduction process |
| Ontology : EGO-EBI | copper ion binding protein binding endosome membrane integral component of membrane oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen melanocyte differentiation clathrin-coated endocytic vesicle membrane melanosome organization melanosome membrane melanosome membrane melanin biosynthetic process melanin biosynthetic process melanosome protein homodimerization activity acetoacetic acid metabolic process protein heterodimerization activity positive regulation of melanin biosynthetic process oxidation-reduction process |
| Pathways : KEGG | Tyrosine metabolism Melanogenesis |
| REACTOME | P17643 [protein] |
| REACTOME Pathways | R-HSA-5662702 [pathway] |
| NDEx Network | TYRP1 |
| Atlas of Cancer Signalling Network | TYRP1 |
| Wikipedia pathways | TYRP1 |
| Orthology - Evolution |
|---|
| OrthoDB | 7306 |
| GeneTree (enSembl) | ENSG00000107165 |
| Phylogenetic Trees/Animal Genes : TreeFam | TYRP1 |
| HOVERGEN | P17643 |
| HOGENOM | P17643 |
| Homologs : HomoloGene | TYRP1 |
| Homology/Alignments : Family Browser (UCSC) | TYRP1 |
| Gene fusions - Rearrangements |
|---|
| Fusion : Mitelman | ACO1/TYRP1 [9p21.1/9p23] [t(9;9)(p21;p23)] |
| Fusion : Mitelman | RALGPS1/TYRP1 [9q33.3/9p23] [t(9;9)(p23;q33)] |
| Fusion: TCGA | ACO1 9p21.1 TYRP1 9p23 BRCA |
| Fusion: TCGA | C9orf150 TYRP1 9p23 BRCA |
| Fusion: TCGA | RALGPS1 9q33.3 TYRP1 9p23 BRCA |
| Fusion Cancer (Beijing) | ZMYND8 [20q13.12] - TYRP1 [9p23] [FUSC003807] |
| Polymorphisms : SNP and Copy number variants |
|---|
| NCBI Variation Viewer | TYRP1 [hg38] |
| dbSNP Single Nucleotide Polymorphism (NCBI) | TYRP1 |
| dbVar | TYRP1 |
| ClinVar | TYRP1 |
| 1000_Genomes | TYRP1 |
| Exome Variant Server | TYRP1 |
| ExAC (Exome Aggregation Consortium) | TYRP1 (select the gene name) |
| Genetic variants : HAPMAP | 7306 |
| Genomic Variants (DGV) | TYRP1 [DGVbeta] |
| DECIPHER | TYRP1 [patients] [syndromes] [variants] [genes] |
| CONAN: Copy Number Analysis | TYRP1 |
| Mutations |
|---|
| ICGC Data Portal | TYRP1 |
| TCGA Data Portal | TYRP1 |
| Broad Tumor Portal | TYRP1 |
| OASIS Portal | TYRP1 [ Somatic mutations - Copy number] |
| Somatic Mutations in Cancer : COSMIC | TYRP1 [overview] [genome browser] [tissue] [distribution] |
| Mutations and Diseases : HGMD | TYRP1 |
| LOVD (Leiden Open Variation Database) | Whole genome datasets |
| LOVD (Leiden Open Variation Database) | LOVD - Leiden Open Variation Database |
| LOVD (Leiden Open Variation Database) | LOVD 3.0 shared installation |
| LOVD (Leiden Open Variation Database) | Mendelian genes |
| BioMuta | search TYRP1 |
| DgiDB (Drug Gene Interaction Database) | TYRP1 |
| DoCM (Curated mutations) | TYRP1 (select the gene name) |
| CIViC (Clinical Interpretations of Variants in Cancer) | TYRP1 (select a term) |
| intoGen | TYRP1 |
| NCG5 (London) | TYRP1 |
| Cancer3D | TYRP1(select the gene name) |
| Impact of mutations | [PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser] |
| Diseases |
|---|
| OMIM | 115501 203290 612271 |
| Orphanet | 11459 |
| Medgen | TYRP1 |
| Genetic Testing Registry | TYRP1
|
| NextProt | P17643 [Medical] |
| TSGene | 7306 |
| GENETests | TYRP1 |
| Target Validation | TYRP1 |
| Huge Navigator |
TYRP1 [HugePedia] |
| snp3D : Map Gene to Disease | 7306 |
| BioCentury BCIQ | TYRP1 |
| ClinGen | TYRP1 |
| Clinical trials, drugs, therapy |
|---|
| Chemical/Protein Interactions : CTD | 7306 |
| Chemical/Pharm GKB Gene | PA37101 |
| Clinical trial | TYRP1 |
| Miscellaneous |
|---|
| canSAR (ICR) | TYRP1 (select the gene name) |
| Probes |
|---|
| Litterature |
|---|
| PubMed | 81 Pubmed reference(s) in Entrez |
| GeneRIFs | Gene References Into Functions (Entrez) |
| CoreMine | TYRP1 |
| EVEX | TYRP1 |
| GoPubMed | TYRP1 |
| iHOP | TYRP1 |
