PMEL Gene Summary [Human]
This gene encodes a melanocyte-specific type I transmembrane glycoprotein. The encoded protein is enriched in melanosomes, which are the melanin-producing organelles in melanocytes, and plays an essential role in the structural organization of premelanosomes. This protein is involved in generating internal matrix fibers that define the transition from Stage I to Stage II melanosomes. This protein undergoes a complex pattern of prosttranslational processing and modification that is essential to the proper functioning of the protein. A secreted form of this protein that is released by proteolytic ectodomain shedding may be used as a melanoma-specific serum marker. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011]
Details
| Type | Protein Coding |
| Official Symbol | PMEL |
| Official Name | premelanosome protein [Source:HGNC Symbol;Acc:HGNC:10880] |
| Ensembl ID | ENSG00000185664 |
| Bio databases IDs | |
| Aliases | premelanosome protein |
| Synonyms | D10H12S53E, D12S53E, D12S53Eh, gp100, gp87, HMB-45, ME20, ME20-M, P1, P100, PMEL17, premelanosome protein, SI, SIL, SILV, Silver |
| 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 PMEL often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- PKD domain
- PKAT, KLD domain
- lumenal domain
- Cadherin repeat-like domain
- enzyme
- protein binding
- proline/serine/threonine-rich repeat domain
- identical protein binding
- Repeats in polycystic kidney disease 1 (PKD1) and other proteins
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cancer
- metastatic uveal melanoma
- non-ocular melanoma
- uveal melanoma
- teratoma
- melanoma
- melanoma cancer
- cutaneous melanoma cancer
- skin cancer
- skin neoplasia
role in cell
- expression in
- production in
- apoptosis
- formation
- proliferation
- activation
- maturation
- quantity
- expansion
- development
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- endoplasmic reticulum fraction
- extracellular vesicles
- Extracellular Space
- perinuclear region
- microvesicles
- cellular membrane
- vacuole
- endosomes
- vesicles
- Golgi Apparatus
- Endoplasmic Reticulum
- granules
- endoplasmic reticulum membrane
- cytoplasmic vesicles
- melanosomes
- multivesicular bodies
- melanosomal membrane
- exosomes
- premelanosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PMEL 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
- melanin biosynthetic process
- melanosome organization
Cellular Component
Where in the cell the gene product is active
- melanosome membrane
- endoplasmic reticulum membrane
- extracellular vesicular exosome
- melanosome
- Golgi apparatus
- endoplasmic reticulum
- multivesicular body membrane
- plasma membrane
- cis-Golgi network membrane
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding