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 name Gene Name - the full gene name approved by the HGNC.
Tyrosinase related protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TYRP1
Synonyms (NCBI Gene) Gene synonyms aliases
CAS2, CATB, GP75, OCA3, TRP, TRP1, TYRP, b-PROTEIN
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9p23
Summary Summary 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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(423)
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
Show/Hide all(3)
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
Show/Hide all(34)
GO ID Ontology Definition Evidence Reference
GO:0004497 Function Monooxygenase activity IEA
GO:0004503 Function Tyrosinase activity IBA
GO:0004503 Function Tyrosinase activity IDA 21291857
GO:0005515 Function Protein binding IPI 11441007, 19841138, 21291857, 32296183
GO:0005737 Component Cytoplasm IDA 21291857
Other IDs Other 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
115501 12450 ENSG00000107165
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
Tissue specificity TISSUE SPECIFICITY: Pigment cells.
Sequence 
MSAPKLLSLGCIFFPLLLFQQARAQFPRQCATVEALRSGMCCPDLSPVSGPGTDRCGSSS
GRGRCEAVTADSRPHSPQYPHDGRDDREVWPLRFFNRTCHCNGNFSGHNCGTCRPGWRGA
ACDQRVLIVRRNLLDLSKEEKNHFVRALDMAKRTTHPLFVIATRRSEEILGPDGNTPQFE
NISIYNYFVWTHYYSVKKTFLGVGQESFGEVDFSHEGPAFLTWHRYHLLRLEKDMQEMLQ
EPSFSLPYWNFATGKNVCDICTDDLMGSRSNFDSTLISPNSVFSQWRVVCDSLEDYDTLG
TLCNSTEDGPIRRNPAGNVARPMVQRLPEPQDVAQCLEVGLFDTPPFYSNSTNSFRNTVE
GYSDPTGKYDPAVRSLHNLAHLFLNGTGGQTHLSPNDPIFVLLHTFTDAVFDEWLRRYNA
DISTFPLENAPIGHNRQYNMVPFWPPVTNTEMFVTAPDNLGYTYEIQWPSREFSVPEIIA
IAVVGALLLVALIFGTASYLIRARRSMDEANQPLLTDQYQCYAEEYEKLQNPNQSVV
Sequence length 537
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Tyrosine metabolism
Metabolic pathways
Melanogenesis 		  Melanin biosynthesis
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Ocular albinism ocular albinism rs1057518841 N/A
Oculocutaneous albinism oculocutaneous albinism type 3 rs104894130, rs121912778, rs387906561, rs387906562, rs140365820, rs387906560 N/A
Albinism albinism rs140365820, rs387906560 N/A
Show/Hide Text Mining Associations (36)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 8300647
Adenocarcinoma of Lung Associate 39735553
Albinism Associate 20861488, 21665000, 28661582, 29036293, 32966289, 35488210, 9345097
Albinism Oculocutaneous Associate 20806075, 30679655, 31077556, 37471664
Alzheimer Disease Associate 1679288, 3322021, 8300647
Breast Neoplasms Associate 28891071
Cerebral Amyloid Angiopathy Familial Associate 7761984
Cholera Stimulate 7615964
Dementia Associate 3322021
Diabetic Angiopathies Associate 3322021