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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
  • TRP1 3 4
  • TYRP 3 4
  • TRP 3 4
  • 5,6-Dihydroxyindole-2-Carboxylic Acid Oxidase 3
  • Tyrosinase-Related Protein 1 4
  • EC 1.14.18.1 61
  • EC 1.14.18.- 4
  • EC 1.14.18 61
  • B-PROTEIN 3
  • 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 Oculocutaneous Albinism. Among its related pathways are Wnt Signaling Pathways: beta-Catenin-independent Wnt/Ca2+ Signaling and Other Non-canonical Wnt Signaling Pathways and Tyrosine metabolism. 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. May regulate or influence the type of melanin synthesized. Also to a lower extent, capable of hydroxylating tyrosine and producing melanin.

Gene Wiki entry 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

Regulatory Elements for TYRP1 Gene

Enhancers for TYRP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09G012699 0.5 FANTOM5 16 +13.8 13838 0.1 CTCF ZNF10 TYRP1 RN7SL849P
GH09G012679 0.3 FANTOM5 21.1 -6.1 -6135 0.1 TYRP1 GC09P012594
GH09G012707 0.6 ENCODE 8.3 +23.2 23216 1.4 ZNF335 JUND ZNF366 JUN FOS PRDM1 TYRP1 RN7SL849P
GH09G012771 0.6 ENCODE dbSUPER 5.7 +86.8 86831 1.7 BHLHE40 LURAP1L TYRP1 LURAP1L-AS1 RN7SL849P
GH09G012684 0.5 ENCODE 0.7 -0.3 -334 1.1 MAFF JUND GATA2 FOS MAFK TYRP1 GC09P012594
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TYRP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for TYRP1 Gene

Chromosome:
9
Start:
12,685,439 bp from pter
End:
12,710,290 bp from pter
Size:
24,852 bases
Orientation:
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:
    P17643-TYRP1_HUMAN
    Recommended name:
    5,6-dihydroxyindole-2-carboxylic acid oxidase
    Protein Accession:
    P17643
    Secondary Accessions:
    • P78468
    • P78469
    • Q13721
    • Q15679

    Protein attributes for TYRP1 Gene

    Size:
    537 amino acids
    Molecular mass:
    60724 Da
    Cofactor:
    Name=Cu(2+); Xref=ChEBI:CHEBI:29036;
    Quaternary structure:
    No Data Available

neXtProt entry for TYRP1 Gene

Selected DME Specific Peptides for TYRP1 Gene

P17643:
  • NSVFSQWRV
  • VRSLHNLAHLFLNGTGGQTH
  • QFENISIYN
  • SFRNTVEGYS
  • NAPIGHN
  • FVWTHYYS
  • SPNDPIFVLLHTFTDAVFDEWLRR
  • NDPIFVL

Post-translational modifications for TYRP1 Gene

  • Glycosylated.
  • Glycosylation at isoforms=96, posLast=104104, isoforms=181, posLast=304304, Asn350, and Asn385
  • Modification sites at PhosphoSitePlus

Other Protein References for TYRP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for TYRP1 Gene

Suggested Antigen Peptide Sequences for TYRP1 Gene

Graphical View of Domain Structure for InterPro Entry

P17643

UniProtKB/Swiss-Prot:

TYRP1_HUMAN :
  • Belongs to the tyrosinase family.
Family:
  • Belongs to the tyrosinase family.
genes like me logo Genes that share domains with TYRP1: view

No data available for Gene Families for TYRP1 Gene

Function for TYRP1 Gene

Molecular function for TYRP1 Gene

GENATLAS Biochemistry:
tyrosinase-related protein 1,involved in melanogenesis
UniProtKB/Swiss-Prot Function:
Catalyzes the 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. Also to a lower extent, capable of hydroxylating tyrosine and producing melanin.

Enzyme Numbers (IUBMB) for TYRP1 Gene

Gene Ontology (GO) - Molecular Function for TYRP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005507 copper ion binding IEA --
GO:0005515 protein binding IPI 11441007
GO:0016491 oxidoreductase activity TAS,IEA --
GO:0016716 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 IEA --
GO:0042803 protein homodimerization activity IEA,ISS --
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

CRISPR Products

Inhibitory RNA 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

COMPARTMENTS
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

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,IEA --
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,IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved Pharma 181

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5,6-Dihydroxyindole-2-carboxylic acid
  • 5,6-Dhica
  • 5,6-Dihydroxy-1H-indole-2-carboxylate
  • 5,6-Dihydroxy-1H-indole-2-carboxylic acid
  • 5,6-Dihydroxy-2-indolecarboxylate
  • 5,6-Dihydroxy-2-indolecarboxylic acid
4790-08-3
Melanin
8049-97-6
genes like me logo Genes that share compounds with TYRP1: view

Transcripts for TYRP1 Gene

Unigene Clusters for TYRP1 Gene

Tyrosinase-related protein 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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: -
SP4:

Relevant External Links for TYRP1 Gene

GeneLoc Exon Structure for
TYRP1
ECgene alternative splicing isoforms for
TYRP1

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, PaxDb, and MOPED for TYRP1 Gene



Protein tissue co-expression partners for TYRP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of TYRP1 Gene:

TYRP1

SOURCE GeneReport for Unigene cluster for TYRP1 Gene:

Hs.270279

mRNA Expression by UniProt/SwissProt for TYRP1 Gene:

P17643-TYRP1_HUMAN
Tissue specificity: Pigment cells.

Evidence on tissue expression from TISSUES for TYRP1 Gene

  • Skin(4.7)
  • 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
Systems:
  • integumentary
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • cranial nerve
  • eye
  • head
General:
  • hair
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with TYRP1: view

Primer Products

Orthologs for TYRP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TYRP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TYRP1 34 35
  • 99.57 (n)
dog
(Canis familiaris)
Mammalia TYRP1 34 35
  • 89.45 (n)
cow
(Bos Taurus)
Mammalia TYRP1 34 35
  • 88.33 (n)
mouse
(Mus musculus)
Mammalia Tyrp1 34 16 35
  • 85.54 (n)
rat
(Rattus norvegicus)
Mammalia Tyrp1 34
  • 85.04 (n)
oppossum
(Monodelphis domestica)
Mammalia TYRP1 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TYRP1 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves TYRP1 34 35
  • 73.98 (n)
lizard
(Anolis carolinensis)
Reptilia TYRP1 35
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tyrp1 34
  • 68.18 (n)
Str.13722 34
African clawed frog
(Xenopus laevis)
Amphibia tyrp1-prov 34
zebrafish
(Danio rerio)
Actinopterygii tyrp1b 34 35
  • 65.18 (n)
tyrp1a 35
  • 60 (a)
OneToMany
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

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

Paralogs for TYRP1 Gene

Paralogs for TYRP1 Gene

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

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

Variants for TYRP1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for TYRP1 Gene

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.

Sequence variations from dbSNP and Humsavar for TYRP1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs281865424 Pathogenic, Albinism, oculocutaneous, 3 (OCA3) [MIM:203290] 12,702,424(+) TTTCC(A/G/T)AAACA intron-variant, nc-transcript-variant, reference, missense
rs61758405 Uncertain significance, Albinism, oculocutaneous, 3 (OCA3) [MIM:203290] 12,694,066(+) CCCGG(A/G)CTCAA nc-transcript-variant, reference, missense
rs104894130 Pathogenic 12,695,626(+) GAGAT(C/G)AGAAG nc-transcript-variant, reference, stop-gained
rs121912778 Pathogenic 12,704,564(+) CTGTT(C/T)GAAGT intron-variant, nc-transcript-variant, reference, stop-gained
rs387906560 Pathogenic 12,704,547(+) GGGAA(-/A)GTATG intron-variant, nc-transcript-variant, reference, frameshift-variant

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

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

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)

Relevant External Links for TYRP1 Gene

Human Gene Mutation Database (HGMD)
TYRP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TYRP1

Disorders for TYRP1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
albinism, oculocutaneous, type iii
  • oculocutaneous albinism type 3
oculocutaneous albinism
  • albinism, oculocutaneous
albinism
prolactin producing pituitary tumor
  • malignant prolactin producing neoplasm of pituitary gland
chediak-higashi syndrome
  • chediak - steinbrinck anomaly
- elite association - COSMIC cancer census association via MalaCards
Search TYRP1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TYRP1_HUMAN
  • 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.

Relevant External Links for TYRP1

Genetic Association Database (GAD)
TYRP1
Human Genome Epidemiology (HuGE) Navigator
TYRP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TYRP1
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 Res. 2006) 3 4 22 64
  2. DNA sequence variants in the tyrosinase-related protein 1 (TYRP1) gene are not associated with human pigmentary glaucoma. (PMID: 12011806) Lynch S. … Wiggs J.L. (Mol. Vis. 2002) 3 22 46 64
  3. Complete sequence and polymorphism study of the human TYRP1 gene encoding tyrosinase-related protein 1. (PMID: 9434945) Box N.F. … Sturm R.A. (Mamm. Genome 1998) 2 3 4 64
  4. Chromosomal structure of the human TYRP1 and TYRP2 loci and comparison of the tyrosinase-related protein gene family. (PMID: 8530077) Sturm R.A. … Dunn I.S. (Genomics 1995) 3 4 22 64
  5. Downstream region of the human tyrosinase-related protein gene enhances its promoter activity. (PMID: 1575733) Shibata K. … Shibahara S. (Biochem. Biophys. Res. Commun. 1992) 3 4 22 64

Products for TYRP1 Gene

Sources for TYRP1 Gene

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