MC3R Gene Summary [Human]
This gene encodes a G-protein-coupled receptor for melanocyte-stimulating hormone and adrenocorticotropic hormone that is expressed in tissues other than the adrenal cortex and melanocytes. This gene maps to the same region as the locus for benign neonatal epilepsy. Mice deficient for this gene have increased fat mass despite decreased food intake, suggesting a role for this gene product in the regulation of energy homeostasis. Mutations in this gene are associated with a susceptibility to obesity in humans. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | MC3R |
| Official Name | melanocortin 3 receptor [Source:HGNC Symbol;Acc:HGNC:6931] |
| Ensembl ID | ENSG00000124089 |
| Bio databases IDs | |
| Aliases | melanocortin 3 receptor |
| Synonyms | BMIQ9, MC3, melanocortin 3 receptor, OB20, OQTL |
| 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 MC3R often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- G-protein coupled receptor
- melanocortin receptor
- extracellular domain
- neuropeptide binding
- intracellular loop
- melanocyte stimulating hormone receptor
- transmembrane domain
- 7 transmembrane receptor (rhodopsin family)
- protein binding
- seven-transmembrane G protein-coupled receptor superfamily
- polypeptide hormone binding
Pathways
Biological processes and signaling networks where the MC3R 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
- obesity
- anorexia
- weight gain
- reduced libido
- motor dysfunction or movement disorder
- Parkinson disease
- susceptibility to obesity type BMIQ9
- impaired glucose tolerance
- Huntington disease
- acquired generalized hypoactive sexual desire disorder
role in cell
- phosphorylation in
- growth
- hypertrophy
- generation in
- size
- number
- cisplatin sensitivity
- abnormal morphology
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
- cell surface
- perinuclear region
- cellular membrane
- Nucleus
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MC3R gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of heart rate
- circadian regulation of gene expression
- homoiothermy
- G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger
- locomotor rhythm
- sodium ion homeostasis
- regulation of metabolic process
- phospholipase C-activating G-protein coupled receptor signaling pathway
- adenylate cyclase-activating G-protein coupled receptor signaling pathway
- regulation of blood pressure
- regulation of feeding behavior
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- melanocortin receptor activity
- neuropeptide binding
- protein binding
- peptide hormone binding
- melanocyte-stimulating hormone receptor activity