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TYRP1 (tyrosinase related protein 1)
Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7306
Gene nameGene Name - the full gene name approved by the HGNC.
Tyrosinase related protein 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
TYRP1
SynonymsGene synonyms aliases
CAS2, CATB, GP75, OCA3, TRP, TRP1, TYRP, b-PROTEIN
ChromosomeChromosome number
9
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9p23
SummarySummary of gene provided in NCBI Entrez 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. [provi
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs104894130 C>G Risk-factor, pathogenic Coding sequence variant, non coding transcript variant, stop gained
rs387906561 T>- Pathogenic Stop gained, non coding transcript variant, coding sequence variant
rs387907171 C>T Affects Missense variant, non coding transcript variant, coding sequence variant
rs1057518841 C>T Likely-pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs1308562697 A>G,T Likely-pathogenic Missense variant, coding sequence variant, non coding transcript variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT713307 hsa-miR-382-3p HITS-CLIP 19536157
MIRT713306 hsa-miR-2115-5p HITS-CLIP 19536157
MIRT713305 hsa-miR-516a-3p HITS-CLIP 19536157
MIRT713304 hsa-miR-516b-3p HITS-CLIP 19536157
MIRT713303 hsa-miR-7162-5p HITS-CLIP 19536157
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Transcription factor Regulation Reference
MITF Activation 10080955;22371403;8995290
MITF Unknown 12136092
TFEB Unknown 10707962
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0004503 Function Monophenol monooxygenase activity IDA 21291857
GO:0005515 Function Protein binding IPI 11441007, 19841138, 21291857, 32296183
GO:0005737 Component Cytoplasm IDA 21291857
GO:0010008 Component Endosome membrane IDA 19841138
GO:0016021 Component Integral component of membrane IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P17643
Protein name 5,6-dihydroxyindole-2-carboxylic acid oxidase (DHICA oxidase) (EC 1.14.18.-) (Catalase B) (Glycoprotein 75) (Melanoma antigen gp75) (Tyrosinase-related protein 1) (TRP) (TRP-1) (TRP1)
Protein function Plays a role in melanin biosynthesis (PubMed:16704458, PubMed:22556244, PubMed:23504663). 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, bu
PDB 5M8L , 5M8M , 5M8N , 5M8O , 5M8P , 5M8Q , 5M8R , 5M8S , 5M8T , 9EY5 , 9EY6 , 9EY7 , 9EY8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00264 Tyrosinase
182 → 417
Common central domain of tyrosinase
 Domain
Sequence 
MSAPKLLSLGCIFFPLLLFQQARAQFPRQCATVEALRSGMCCPDLSPVSGPGTDRCGSSS
GRGRCEAVTADSRPHSPQYPHDGRDDREVWPLRFFNRTCHCNGNFSGHNCGTCRPGWRGA
ACDQRVLIVRRNLLDLSKEEKNHFVRALDMAKRTTHPLFVIATRRSEEILGPDGNTPQFE
NISIYNYFVWTHYYSVKKTFLGVGQESFGEVDFSHEGPAFLTWHRYHLLRLEKDMQEMLQ
EPSFSLPYWNFATGKNVCDICTDDLMGSRSNFDSTLISPNSVFSQWRVVCDSLEDYDTLG
TLCNSTEDGPIRRNPAGNVARPMVQRLPEPQDVAQCLEVGLFDTPPFYSNSTNSFRNTVE
GYSDPTGKYDPAVRSLHNLAHLFLNGTGGQTHLSPNDPIFVLLHTFTDAVFDEWLRRYNA
DISTFPLENAPIGHNRQYNMVPFWPPVTNTEMFVTAPDNLGYTYEIQWPSREFSVPEIIA
IAVVGALLLVALIFGTASYLIRARRSMDEANQPLLTDQYQCYAEEYEKLQNPNQSVV
Sequence length 537
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  Tyrosine metabolism
Metabolic pathways
Melanogenesis 		  Melanin biosynthesis
Associated diseases
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Adenocarcinoma Adenocarcinoma, Adenocarcinoma, Basal Cell, Adenocarcinoma, Oxyphilic, Adenocarcinoma, Tubular rs121913530, rs886039394, rs121913474 21552421
Albinism Albinism rs28940876, rs387906560, rs62635045, rs140365820, rs141949212, rs1384042381, rs62635042 8651291
Carcinoma Carcinoma, Cribriform, Carcinoma, Granular Cell rs121912654, rs555607708, rs786202962, rs1564055259 21552421
Lung cancer Malignant neoplasm of lung rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135 21552421
Unknown
Disease name Disease term dbSNP ID References
Disorder of eye Disorder of eye 10644000
Lung neoplasms Lung Neoplasms 21552421
Strabismus Strabismus

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