MRAP Gene Summary [Human]
This gene encodes a melanocortin receptor-interacting protein. The encoded protein regulates trafficking and function of the melanocortin 2 receptor in the adrenal gland. The encoded protein can also modulate signaling of other melanocortin receptors. Mutations in this gene have been associated with familial glucocorticoid deficiency type 2. Alternatively spliced transcript variants have been described. [provided by RefSeq, Dec 2009]
Details
| Type | Protein Coding |
| Official Symbol | MRAP |
| Official Name | melanocortin 2 receptor accessory protein [Source:HGNC Symbol;Acc:HGNC:1304] |
| Ensembl ID | ENSG00000170262 |
| Bio databases IDs | |
| Aliases | melanocortin 2 receptor accessory protein |
| Synonyms | 1110025G12Rik, B27, C21ORF61, FALP, FGD2, GCCD2, melanocortin 2 receptor accessory protein, MRAP1, ORF61, RGD1310648 |
| 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 MRAP often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Melanocortin-2 receptor accessory protein family
- G-protein-coupled receptor binding
- protein binding
- identical protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- atelectasis
- glucocorticoid deficiency 2
- hypertension
- glucocorticoid deficiency 1
role in cell
- growth
- expression in
- production in
- differentiation
- binding in
- accumulation 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
- intracellular membrane-bounded organelle
- intracellular structures
- perinuclear region
- Plasma Membrane
- endosomes
- Endoplasmic Reticulum
- ER-to-Golgi intermediate compartment
- nuclear envelope
- perinuclear endosomes
- recycling endosomes
- late endosomes
- Golgi cisternae
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MRAP gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein localization in plasma membrane
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- intracellular membrane-bounded organelle
- endoplasmic reticulum
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- corticotropin hormone receptor binding
- type 5 melanocortin receptor binding
- type 1 melanocortin receptor binding
- type 3 melanocortin receptor binding
- type 4 melanocortin receptor binding
- receptor regulator activity