• Gene id: 7306

Gene Summary

• Gene Symbol: TYRP1   Gene   UCSC   Ensembl
• Aliases: CAS2, CATB, GP75, OCA3, TRP, TRP1, TYRP, b-PROTEIN
• Gene name: tyrosinase related protein 1
• Alternate names: 5,6-dihydroxyindole-2-carboxylic acid oxidase, DHICA oxidase, catalase B, glycoprotein 75, melanoma antigen gp75,
• Gene location: 9p23 (12693374: 12710284)     Exons: 8     NC_000009.12
• Gene summary(Entrez): 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
• OMIM: 153440

Protein Summary

• Protein general information: P17643  
  • 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)
  • Length: 537  
  • Mass: 60724
  • Tissue specificity: Pigment cells.
• Sequence:

  MSAPKLLSLGCIFFPLLLFQQARAQFPRQCATVEALRSGMCCPDLSPVSGPGTDRCGSSSGRGRCEAVTADSRPH
  SPQYPHDGRDDREVWPLRFFNRTCHCNGNFSGHNCGTCRPGWRGAACDQRVLIVRRNLLDLSKEEKNHFVRALDM
  AKRTTHPLFVIATRRSEEILGPDGNTPQFENISIYNYFVWTHYYSVKKTFLGVGQESFGEVDFSHEGPAFLTWHR
  YHLLRLEKDMQEMLQEPSFSLPYWNFATGKNVCDICTDDLMGSRSNFDSTLISPNSVFSQWRVVCDSLEDYDTLG
  TLCNSTEDGPIRRNPAGNVARPMVQRLPEPQDVAQCLEVGLFDTPPFYSNSTNSFRNTVEGYSDPTGKYDPAVRS
  LHNLAHLFLNGTGGQTHLSPNDPIFVLLHTFTDAVFDEWLRRYNADISTFPLENAPIGHNRQYNMVPFWPPVTNT
  EMFVTAPDNLGYTYEIQWPSREFSVPEIIAIAVVGALLLVALIFGTASYLIRARRSMDEANQPLLTDQYQCYAEE
  YEKLQNPNQSVV

• Structural information:
  • Interpro: IPR002227  IPR008922  
  • Prosite: PS00497 PS00498
  • PDB: 5M8L 5M8M 5M8N 5M8O 5M8P 5M8Q 5M8R 5M8S 5M8T
  • PDBsum: 5M8L 5M8M 5M8N 5M8O 5M8P 5M8Q 5M8R 5M8S 5M8T
  • STRING: ENSP00000373570
• Other Databases: GeneCards:  TYRP1  Malacards:  TYRP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0048023	positive regulation of melanin biosynthetic process	IMP	biological process
GO:0030318	melanocyte differentiation	IBA	biological process
GO:0032438	melanosome organization	IBA	biological process
GO:0042470	melanosome	IBA	cellular component
GO:0043473	pigmentation	IBA	biological process
GO:0030669	clathrin-coated endocytic vesicle membrane	IDA	cellular component
GO:0010008	endosome membrane	IDA	cellular component
GO:0004503	monophenol monooxygenase activity	IDA	molecular function
GO:0097708	intracellular vesicle	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0033162	melanosome membrane	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0042438	melanin biosynthetic process	IEA	biological process
GO:0016491	oxidoreductase activity	TAS	molecular function
GO:0033162	melanosome membrane	TAS	cellular component
GO:0042438	melanin biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048023	positive regulation of melanin biosynthetic process	IEA	biological process
GO:0043438	acetoacetic acid metabolic process	IEA	biological process
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0043473	pigmentation	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0042470	melanosome	IEA	cellular component
GO:0033162	melanosome membrane	IEA	cellular component
GO:0032438	melanosome organization	IEA	biological process
GO:0030318	melanocyte differentiation	IEA	biological process
GO:0006582	melanin metabolic process	IEA	biological process
GO:0042470	melanosome	IEA	cellular component
GO:0033162	melanosome membrane	IEA	cellular component
GO:0042438	melanin biosynthetic process	IEA	biological process
GO:0042803	protein homodimerization activity	ISS	molecular function
GO:0042470	melanosome	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04916	Melanogenesis
hsa00350	Tyrosine metabolism

Diseases

Associated diseases	References
Oculocutaneous albinism	KEGG:H00168
Oculocutaneous albinism	KEGG:H00168
Oculocutaneous albinism	PMID:8651291
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R