TYRP1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | TYRP1 |
| Official Name | tyrosinase related protein 1 [Source:HGNC Symbol;Acc:HGNC:12450] |
| Ensembl ID | ENSG00000107165 |
| Bio databases IDs | |
| Aliases | tyrosinase related protein 1 |
| Synonyms | b-PROTEIN, brown, CAS2, CATB, GP75, isa, MELANOMA ANTIGEN GP75, OCA3, SHEP11, TRP, TRP-1, tyrosinase-related protein 1, TYRP |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TYRP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- endosome sorting motif
- oxidoreductase
- Common central domain of tyrosinase
- enzyme
- melanosomal sorting motif
- catalase
- protein binding
- identical protein binding
- monophenol monooxygenase
- cytoplasmic domain
- lumenal domain
- transmembrane domain
- monophenol:oxygen oxidoreductase
- protein homodimerization
- cytosolic tail domain
- PDZ binding motif
Pathways
Biological processes and signaling networks where the TYRP1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- type 3 oculocutaneous albinism
- nonsyndromic oculocutaneous albinism
- diabetic nephropathy
- iris stromal atrophy
- oculocutaneous albinism
- hypopigmentation
- albinism
- tyrosinase-positive oculocutaneous albinism
- rotator cuff injury
role in cell
- expression in
- proliferation
- quantity
- cell death
- differentiation
- organization
- melanogenesis
- synthesis in
- damage
- oxidation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- membrane fraction
- dendrite tip
- endocytic vesicle membrane
- intracellular membrane-bounded organelle
- cell surface
- perinuclear region
- filamentous network
- Plasma Membrane
- endosomes
- vesicles
- Endoplasmic Reticulum
- membrane compartment
- granules
- vesicle membrane
- endosomal membrane
- early endosomes
- melanosomes
- multivesicular bodies
- melanosomal membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TYRP1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of melanin biosynthetic process
- acetoacetic acid metabolic process
- melanin biosynthetic process
- melanosome organization
- melanocyte differentiation
Cellular Component
Where in the cell the gene product is active
- melanosome membrane
- clathrin-coated endocytic vesicle membrane
- melanosome
- cytoplasm
- endosome membrane
Molecular Function
What the gene product does at the molecular level
- protein homodimerization activity
- monophenol monooxygenase activity
- protein binding
- metal ion binding
- oxidoreductase activity