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TYRP1 (tyrosinase-related protein 1)

Written2016-04Kunal Ray, Mainak Sengupta, Sampurna Ghosh
Academy of Scientific and Innovative Research (AcSIR), Campus at CSIR - Central Road Research Institute, Mathura Road, New Delhi - 110 025, (KR); University of Calcutta, Department of Genetics, 35, Ballygunge Circular Road, Kolkata - 700 019,; (MS, SG) India.

Abstract TYRP1 gene, having a chromosomal location of 9p23, encodes a melanosomal enzyme belonging to the tyrosinase family. TYRP1 catalyses oxidation of 5,6-dihydroxyindole-2-carboxylic acid (DHICA) into indole-5,6-quinone-2-carboxylic acid. TYRP1 is also thought to play a role in stabilizing tyrosinase and modulates its catalytic activity, in maintenance of melanosome structure, affecting melanocyte proliferation and melanocyte cell death. Defects in this gene cause oculocutaneous albinism type III; OCA III (also known as rufous oculocutaneous albinism).

Keywords TYRP1, albinism, OCA III

(Note : for Links provided by Atlas : click)


Alias_symbol (synonym)GP75
Other aliasMelanoma Antigen Gp75
Glycoprotein 75
DHICA Oxidase
Catalase B
LocusID (NCBI) 7306
Atlas_Id 46370
Location 9p23  [Link to chromosome band 9p23]
Location_base_pair Starts at 12693386 and ends at 12710266 bp from pter ( according to hg19-Feb_2009)  [Mapping TYRP1.png]
  Cytogenetic band showing TYRP1 locus (Ref:
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ACO1 (9p21.1) / TYRP1 (9p23)LURAP1L (9p23) / TYRP1 (9p23)RALGPS1 (9q33.3) / TYRP1 (9p23)
ZMYND8 (20q13.12) / TYRP1 (9p23)


Description In Chromosome 9, the 24,852 bases long gene starts from12,685,439 bp from pter and ends at 12,710,290 bp from pter; Orientation: Plus strand. The gene contains 8 exons and spans ~24.8 kb of the genome.
Transcription The gene encodes a 2876 bp mRNA. This gene has been reported to have 7 transcripts (splice variants) of which 3 have been found to be protein coding (;r=9:12685439-12710290). Microphthalmia-associated transcription factor (MITF) stimulates melanin synthesis by up-regulating expression of TYRP1 acting as a transcription factor.


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 ( 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 (
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)


Germinal A small number of mutations in the TYRP1 gene have been found to cause oculocutaneous albinism III. Seventeen mutations have been reported in Albinism Database ( It is to be noted that Albinism Database has been updated till 2009. OCA3 has been described primarily in dark-skinned people from Southern Africa. Affected individuals have reddish-brown skin, ginger or red hair, and hazel or brown irises. OCA3 or Rufous oculocutaneous albinism has been estimated to affect 1:8500 individuals in Africa; however, it is very rare in any other populations as per published literature.
Somatic Somatic mutations in TYRP1 have been identified in different cancers (,, but no causality has been reported.

Implicated in

Entity Melanoma
Note TYRP1 expression has been found to be significantly correlated with distant metastasis-free survival (DMFS), overall survival and Breslow thickness in melanoma patients (F Journe et al., 2011). Polymorphisms in 3'UTR of TYRP1 mRNA: rs683 and rs910 have been found to affect TYRP1 mRNA regulation by miR-155 and its subsequent translation into protein (El Hajj P et al., 2015). These SNPs have been hypothesized to render TYRP1 expression nonsusceptible to miR-155 activity and disclose a prognostic value for TYRP1 protein in a subgroup of melanoma patients. TYRP1 SNP rs1408799 has been found to be associated with melanoma risk (OR, 0.77; 95% CI, 0.60-0.98) (Nan H et al., 2009).


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


This paper should be referenced as such :
Ray K, Sengupta M, Ghosh S
TYRP1 (tyrosinase-related protein 1);
Atlas Genet Cytogenet Oncol Haematol. in press
On line version :

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(9;9)(p21;p23) ACO1/TYRP1
t(9;9)(p23;q33) RALGPS1/TYRP1

Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Oculocutaneous Albinism

External links

HGNC (Hugo)TYRP1   12450
Entrez_Gene (NCBI)TYRP1  7306  tyrosinase related protein 1
AliasesCAS2; CATB; GP75; OCA3; 
GeneCards (Weizmann)TYRP1
Ensembl hg19 (Hinxton)ENSG00000107165 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000107165 [Gene_View]  ENSG00000107165 [Sequence]  chr9:12693386-12710266 [Contig_View]  TYRP1 [Vega]
ICGC DataPortalENSG00000107165
TCGA cBioPortalTYRP1
Genatlas (Paris)TYRP1
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)
EnsemblTYRP1 - 9p23 [CytoView hg19]  TYRP1 - 9p23 [CytoView hg38]
Mapping of homologs : NCBITYRP1 [Mapview hg19]  TYRP1 [Mapview hg38]
OMIM115501   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 : UnigeneHs.270279 [ NCBI ]
CGAP (NCI)Hs.270279
Alternative Splicing GalleryENSG00000107165
Gene ExpressionTYRP1 [ 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]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7306
GTEX Portal (Tissue expression)TYRP1
Human Protein AtlasENSG00000107165-TYRP1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP17643   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP17643  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP17643
Splice isoforms : SwissVarP17643
Catalytic activity : Enzyme1.14.18.- [ Enzyme-Expasy ]   1.14.18.-1.14.18.- [ IntEnz-EBI ]   1.14.18.- [ BRENDA ]   1.14.18.- [ KEGG ]   
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 mutations7306
Blocks (Seattle)TYRP1
Human Protein Atlas [tissue]ENSG00000107165-TYRP1 [tissue]
Peptide AtlasP17643
IPIIPI00015913   IPI00930372   IPI00479738   IPI00947481   
Protein Interaction databases
IntAct (EBI)P17643
Ontologies - Pathways
Ontology : AmiGOmonooxygenase activity  protein binding  endosome membrane  integral component of membrane  oxidoreductase activity  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  metal ion binding  protein heterodimerization activity  positive regulation of melanin biosynthetic process  oxidation-reduction process  
Ontology : EGO-EBImonooxygenase activity  protein binding  endosome membrane  integral component of membrane  oxidoreductase activity  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  metal ion binding  protein heterodimerization activity  positive regulation of melanin biosynthetic process  oxidation-reduction process  
Pathways : KEGGTyrosine metabolism   
REACTOMEP17643 [protein]
REACTOME PathwaysR-HSA-5662702 [pathway]   
NDEx NetworkTYRP1
Atlas of Cancer Signalling NetworkTYRP1
Wikipedia pathwaysTYRP1
Orthology - Evolution
GeneTree (enSembl)ENSG00000107165
Phylogenetic Trees/Animal Genes : TreeFamTYRP1
Homologs : HomoloGeneTYRP1
Homology/Alignments : Family Browser (UCSC)TYRP1
Gene fusions - Rearrangements
Fusion : MitelmanACO1/TYRP1 [9p21.1/9p23]  [t(9;9)(p21;p23)]  
Fusion : MitelmanRALGPS1/TYRP1 [9q33.3/9p23]  [t(9;9)(p23;q33)]  
Fusion PortalACO1 9p21.1 TYRP1 9p23 BRCA
Fusion PortalC9orf150 TYRP1 9p23 BRCA
Fusion PortalRALGPS1 9q33.3 TYRP1 9p23 BRCA
Fusion Cancer (Beijing)ZMYND8 [20q13.12]  -  TYRP1 [9p23]  [FUSC003807]
Fusion : QuiverTYRP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTYRP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TYRP1
Exome Variant ServerTYRP1
ExAC (Exome Aggregation Consortium)ENSG00000107165
GNOMAD BrowserENSG00000107165
Genetic variants : HAPMAP7306
Genomic Variants (DGV)TYRP1 [DGVbeta]
DECIPHERTYRP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTYRP1 
ICGC Data PortalTYRP1 
TCGA Data PortalTYRP1 
Broad Tumor PortalTYRP1
OASIS PortalTYRP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTYRP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTYRP1
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
BioMutasearch 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)
NCG5 (London)TYRP1
Cancer3DTYRP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
OMIM115501    203290    612271   
Genetic Testing Registry TYRP1
NextProtP17643 [Medical]
Target ValidationTYRP1
Huge Navigator TYRP1 [HugePedia]
snp3D : Map Gene to Disease7306
BioCentury BCIQTYRP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7306
Chemical/Pharm GKB GenePA37101
Clinical trialTYRP1
canSAR (ICR)TYRP1 (select the gene name)
PubMed86 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Jul 16 10:03:34 CEST 2018

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