TYRP1 (tyrosinase related protein 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 7306
Gene name Tyrosinase related protein 1
Gene symbol TYRP1
Synonyms (NCBI Gene)
CAS2CATBGP75OCA3TRPTRP1TYRPb-PROTEIN
Chromosome 9
Chromosome location 9p23
Summary 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.
6
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.
423
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 Transcription factors information provided by TRRUST V2 database.
3
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
115501 12450 ENSG00000107165
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (7)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Albinism Likely pathogenic; Pathogenic rs387906560, rs140365820 RCV000504733
RCV000504849
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF Pathogenic rs104894130 RCV000019160
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MELANESIAN BLOND HAIR Pathogenic; Likely pathogenic rs371209698, rs779261213, rs760181936, rs2537276482, rs387906560, rs104894130, rs121912778, rs387906562, rs140365820, rs780433845 RCV006275891
RCV005047571
RCV005047685
RCV005047712
RCV002482887
View all (5 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nonsyndromic Oculocutaneous Albinism Likely pathogenic rs1563851602 RCV000755095
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (9)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CUTANEOUS MELANOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (164)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma CTD_human_DG 21552421
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Basal Cell Adenocarcinoma CTD_human_DG 21552421
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Oxyphilic Adenocarcinoma CTD_human_DG 21552421
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Tubular Adenocarcinoma CTD_human_DG 21552421
★★★★★
★☆☆☆☆
Found in Text Mining only
Albinism Albinism Pubtator 20861488, 21665000, 28661582, 29036293, 32966289, 35488210, 9345097 Associate
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Albinism Albinism BEFREE 21665000, 25060099, 8433006, 8651291, 9345097
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Albinism Albinism CLINVAR_DG 8651291
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Albinism Albinism HPO_DG
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Albinism Oculocutaneous Oculocutaneous albinism Pubtator 20806075, 30679655, 31077556, 37471664 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Albinism, Ocular Ocular albinism LHGDN 18326704
★★★★★
★☆☆☆☆
Found in Text Mining only