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Aliases for TYRP1 Gene

Aliases for TYRP1 Gene

  • Tyrosinase Related Protein 1 2 3 5
  • Melanoma Antigen Gp75 3 4
  • Glycoprotein 75 3 4
  • DHICA Oxidase 3 4
  • Catalase B 3 4
  • CAS2 3 4
  • TYRP 3 4
  • TRP1 3 4
  • TRP 3 4
  • 5,6-Dihydroxyindole-2-Carboxylic Acid Oxidase 3
  • Tyrosinase-Related Protein 1 4
  • EC 1.14.18.- 4
  • TRP-1 4
  • TYRRP 4
  • CATB 3
  • GP75 3
  • OCA3 3

External Ids for TYRP1 Gene

Previous HGNC Symbols for TYRP1 Gene

  • TYRP
  • CAS2

Previous GeneCards Identifiers for TYRP1 Gene

  • GC09P012859
  • GC09P012674

Summaries for TYRP1 Gene

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 Albinism, Oculocutaneous, Type Iii and Skin/Hair/Eye Pigmentation, Variation In, 11. Among its related pathways are Direct p53 effectors and Metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and oxidoreductase activity. An important paralog of this gene is DCT.

UniProtKB/Swiss-Prot for TYRP1 Gene

  • Catalyzes the oxidation of 5,6-dihydroxyindole-2-carboxylic acid (DHICA) into indole-5,6-quinone-2-carboxylic acid in the presence of bound Cu(2+) ions (PubMed:28661582). May regulate or influence the type of melanin synthesized (PubMed:22556244, PubMed:16704458). Also to a lower extent, capable of hydroxylating tyrosine and producing melanin (By similarity).

Gene Wiki entry for TYRP1 Gene

Additional gene information for TYRP1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TYRP1 Gene

Genomics for TYRP1 Gene

GeneHancer (GH) Regulatory Elements for TYRP1 Gene

Promoters and enhancers for TYRP1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J012693 Promoter 0.5 EPDnew 650.4 +8.0 7994 0.1 TYRP1 RN7SL849P
GH09J012694 Promoter 0.5 EPDnew 650.4 +8.5 8477 0.1 TYRP1 RN7SL849P
GH09J012333 Promoter 0.5 EPDnew 650.1 -351.5 -351472 0.1 TYRP1 GC09M012300 RNU2-47P GC09P012391
GH09J012684 Enhancer 0.4 ENCODE 650.7 -0.3 -334 1.1 JUND MAFF MAFK TYRP1 GC09P012594
GH09J012699 Enhancer 0.4 FANTOM5 16 +13.8 13838 0.1 CTCF ZNF10 TYRP1 RN7SL849P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TYRP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TYRP1 gene promoter:
  • TBP
  • ATF-2
  • STAT3

Genomic Locations for TYRP1 Gene

Genomic Locations for TYRP1 Gene
24,852 bases
Plus strand
24,852 bases
Plus strand

Genomic View for TYRP1 Gene

Genes around TYRP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TYRP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TYRP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TYRP1 Gene

Proteins for TYRP1 Gene

  • Protein details for TYRP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    5,6-dihydroxyindole-2-carboxylic acid oxidase
    Protein Accession:
    Secondary Accessions:
    • P78468
    • P78469
    • Q13721
    • Q15679

    Protein attributes for TYRP1 Gene

    537 amino acids
    Molecular mass:
    60724 Da
    Name=Cu(2+); Xref=ChEBI:CHEBI:29036;
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for TYRP1 Gene

neXtProt entry for TYRP1 Gene

Post-translational modifications for TYRP1 Gene

  • Glycosylated.
  • Glycosylation at isoforms=385, isoforms=350, posLast=304304, isoforms=181, posLast=104104, and isoforms=96
  • Modification sites at PhosphoSitePlus

Other Protein References for TYRP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TYRP1 Gene

Domains & Families for TYRP1 Gene

Gene Families for TYRP1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for TYRP1 Gene

Suggested Antigen Peptide Sequences for TYRP1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the tyrosinase family.
  • Belongs to the tyrosinase family.
genes like me logo Genes that share domains with TYRP1: view

Function for TYRP1 Gene

Molecular function for TYRP1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the oxidation of 5,6-dihydroxyindole-2-carboxylic acid (DHICA) into indole-5,6-quinone-2-carboxylic acid in the presence of bound Cu(2+) ions (PubMed:28661582). May regulate or influence the type of melanin synthesized (PubMed:22556244, PubMed:16704458). Also to a lower extent, capable of hydroxylating tyrosine and producing melanin (By similarity).
UniProtKB/Swiss-Prot EnzymeRegulation:
The activity depends critically on the nature of the bound metal ion. Catalyzes the oxidation of 5,6-dihydroxyindole-2-carboxylic acid (DHICA) in the presence of bound Cu(2+) ions, but lacks activity in the presence of bound Zn(2+) ions.
GENATLAS Biochemistry:
tyrosinase-related protein 1,involved in melanogenesis

Enzyme Numbers (IUBMB) for TYRP1 Gene

Phenotypes From GWAS Catalog for TYRP1 Gene

Gene Ontology (GO) - Molecular Function for TYRP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004497 monooxygenase activity IEA --
GO:0005515 protein binding IPI 11441007
GO:0016491 oxidoreductase activity TAS,IEA --
GO:0042803 protein homodimerization activity IEA,ISS --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with TYRP1: view
genes like me logo Genes that share phenotypes with TYRP1: view

Human Phenotype Ontology for TYRP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for TYRP1 Gene

Localization for TYRP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TYRP1 Gene

Melanosome membrane; Single-pass type I membrane protein. Melanosome. Note=Located to mature stage III and IV melanosomes and apposed endosomal tubular membranes. Transported to pigmented melanosomes by the BLOC-1 complex. Proper trafficking to melanosome is regulated by SGSM2, ANKRD27, RAB9A, RAB32 and RAB38. {ECO:0000250 UniProtKB:P07147}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TYRP1 gene
Compartment Confidence
endosome 5
plasma membrane 3
extracellular 2
cytosol 2
lysosome 2
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TYRP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010008 endosome membrane IDA 19841138
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030669 clathrin-coated endocytic vesicle membrane IDA 19841138
GO:0033162 melanosome membrane TAS --
genes like me logo Genes that share ontologies with TYRP1: view

Pathways & Interactions for TYRP1 Gene

genes like me logo Genes that share pathways with TYRP1: view

Pathways by source for TYRP1 Gene

1 BioSystems pathway for TYRP1 Gene
3 KEGG pathways for TYRP1 Gene

UniProtKB/Swiss-Prot P17643-TYRP1_HUMAN

  • Pathway: Pigment biosynthesis; melanin biosynthesis.

Gene Ontology (GO) - Biological Process for TYRP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006582 melanin metabolic process IEA --
GO:0008152 metabolic process IEA --
GO:0030318 melanocyte differentiation IEA --
GO:0032438 melanosome organization IEA --
GO:0042438 melanin biosynthetic process TAS --
genes like me logo Genes that share ontologies with TYRP1: view

No data available for SIGNOR curated interactions for TYRP1 Gene

Drugs & Compounds for TYRP1 Gene

(21) Drugs for TYRP1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma 202

(18) Additional Compounds for TYRP1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5,6-Dihydroxyindole-2-carboxylic acid
  • 5,6-DHICA
  • 5,6-Dihydroxy-2-indolecarboxylic acid
  • 5,6-Dihydroxy-2-indolylcarboxylic acid
  • 5,6-Dihydroxyindole-2-carboxylate
  • DHI2c
  • Allomelanins
  • Melanins
  • Phaeomelanins
genes like me logo Genes that share compounds with TYRP1: view

Transcripts for TYRP1 Gene

mRNA/cDNA for TYRP1 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(110) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TYRP1 Gene

Tyrosinase-related protein 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TYRP1 Gene

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

Relevant External Links for TYRP1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TYRP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TYRP1 Gene

mRNA differential expression in normal tissues according to GTEx for TYRP1 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x15.3), Skin - Sun Exposed (Lower leg) (x13.8), Heart - Left Ventricle (x10.1), and Heart - Atrial Appendage (x4.5).

Protein differential expression in normal tissues from HIPED for TYRP1 Gene

This gene is overexpressed in Serum (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TYRP1 Gene

Protein tissue co-expression partners for TYRP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of TYRP1 Gene:


SOURCE GeneReport for Unigene cluster for TYRP1 Gene:


mRNA Expression by UniProt/SwissProt for TYRP1 Gene:

Tissue specificity: Pigment cells.

Evidence on tissue expression from TISSUES for TYRP1 Gene

  • Skin(4.8)
  • Blood(4.3)
  • Liver(4.1)
  • Eye(4)
  • Heart(2.1)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TYRP1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • integumentary
  • nervous
  • skeletal muscle
Head and neck:
  • cranial nerve
  • eye
  • head
  • hair
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with TYRP1: view

Orthologs for TYRP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TYRP1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TYRP1 34 33
  • 99.57 (n)
(Canis familiaris)
Mammalia TYRP1 34 33
  • 89.45 (n)
(Bos Taurus)
Mammalia TYRP1 34 33
  • 88.33 (n)
(Mus musculus)
Mammalia Tyrp1 16 34 33
  • 85.54 (n)
(Rattus norvegicus)
Mammalia Tyrp1 33
  • 85.04 (n)
(Monodelphis domestica)
Mammalia TYRP1 34
  • 83 (a)
(Ornithorhynchus anatinus)
Mammalia TYRP1 34
  • 79 (a)
(Gallus gallus)
Aves TYRP1 34 33
  • 73.98 (n)
(Anolis carolinensis)
Reptilia TYRP1 34
  • 75 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tyrp1 33
  • 68.18 (n)
Str.13722 33
African clawed frog
(Xenopus laevis)
Amphibia tyrp1-prov 33
(Danio rerio)
Actinopterygii tyrp1b 34 33
  • 65.18 (n)
tyrp1a 34
  • 60 (a)
Species where no ortholog for TYRP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TYRP1 Gene

Gene Tree for TYRP1 (if available)
Gene Tree for TYRP1 (if available)
Evolutionary constrained regions (ECRs) for TYRP1: view image

Paralogs for TYRP1 Gene

Paralogs for TYRP1 Gene

(3) SIMAP similar genes for TYRP1 Gene using alignment to 5 proteins:

  • C9JZ52_HUMAN
  • Q5W0M5_HUMAN
genes like me logo Genes that share paralogs with TYRP1: view

Variants for TYRP1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for TYRP1 Gene

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.

Sequence variations from dbSNP and Humsavar for TYRP1 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs104894130 pathogenic, risk-factor, Oculocutaneous albinism type 3, OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF, not provided 12,695,626(+) C/G coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs1057518841 likely-pathogenic, Ocular albinism 12,695,799(+) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1063380 benign, Oculocutaneous albinism 12,710,090(+) T/C 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs121912778 pathogenic, Oculocutaneous albinism type 3 12,704,564(+) C/T coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs140364108 uncertain-significance, Oculocutaneous albinism 12,709,241(+) A/C 3_prime_UTR_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for TYRP1 Gene

Variant ID Type Subtype PubMed ID
nsv831513 CNV gain 17160897
nsv613613 CNV loss 21841781
nsv1021844 CNV gain 25217958
nsv1016570 CNV loss 25217958
esv3891612 CNV gain 25118596
esv3619718 CNV gain 21293372
esv2759671 CNV loss 17122850
esv2422212 CNV duplication 17116639
dgv12568n54 CNV loss 21841781

Variation tolerance for TYRP1 Gene

Residual Variation Intolerance Score: 62.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.88; 48.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TYRP1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

Disorders for TYRP1 Gene

MalaCards: The human disease database

(23) MalaCards diseases for TYRP1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search TYRP1 in MalaCards View complete list of genes associated with diseases


  • 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. {ECO:0000269 PubMed:16704458, ECO:0000269 PubMed:23504663}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TYRP1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TYRP1: view

No data available for Genatlas for TYRP1 Gene

Publications for TYRP1 Gene

  1. Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient. (PMID: 16704458) Rooryck C … Arveiler B (Pigment cell research 2006) 3 4 22 58
  2. DNA sequence variants in the tyrosinase-related protein 1 (TYRP1) gene are not associated with human pigmentary glaucoma. (PMID: 12011806) Lynch S … Wiggs JL (Molecular vision 2002) 3 22 44 58
  3. Complete sequence and polymorphism study of the human TYRP1 gene encoding tyrosinase-related protein 1. (PMID: 9434945) Box NF … Sturm RA (Mammalian genome : official journal of the International Mammalian Genome Society 1998) 2 3 4 58
  4. Chromosomal structure of the human TYRP1 and TYRP2 loci and comparison of the tyrosinase-related protein gene family. (PMID: 8530077) Sturm RA … Dunn IS (Genomics 1995) 3 4 22 58
  5. Downstream region of the human tyrosinase-related protein gene enhances its promoter activity. (PMID: 1575733) Shibata K … Shibahara S (Biochemical and biophysical research communications 1992) 3 4 22 58

Products for TYRP1 Gene

Sources for TYRP1 Gene

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