POMC Gene Summary [Human]
This gene encodes a preproprotein that undergoes extensive, tissue-specific, post-translational processing via cleavage by subtilisin-like enzymes known as prohormone convertases. There are eight potential cleavage sites within the preproprotein and, depending on tissue type and the available convertases, processing may yield as many as ten biologically active peptides involved in diverse cellular functions. The encoded protein is synthesized mainly in corticotroph cells of the anterior pituitary where four cleavage sites are used; adrenocorticotrophin, essential for normal steroidogenesis and the maintenance of normal adrenal weight, and lipotropin beta are the major end products. In other tissues, including the hypothalamus, placenta, and epithelium, all cleavage sites may be used, giving rise to peptides with roles in pain and energy homeostasis, melanocyte stimulation, and immune modulation. These include several distinct melanotropins, lipotropins, and endorphins that are contained within the adrenocorticotrophin and beta-lipotropin peptides. The antimicrobial melanotropin alpha peptide exhibits antibacterial and antifungal activity. Mutations in this gene have been associated with early onset obesity, adrenal insufficiency, and red hair pigmentation. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jan 2016]
Details
| Type | Protein Coding |
| Official Symbol | POMC |
| Official Name | proopiomelanocortin [Source:HGNC Symbol;Acc:HGNC:9201] |
| Ensembl ID | ENSG00000115138 |
| Bio databases IDs | |
| Aliases | proopiomelanocortin, adrenocorticotropin, beta-lipotropin, alpha-melanocyte stimulating hormone, beta-melanocyte stimulating hormone, beta-endorphin, adrenocorticotropic hormone, opiomelanocortin prepropeptide |
| Synonyms | BE, beta-LIPOTROPIN, Beta-LPH, beta-MSH, CLIP, Endorphin beta, Endorphin β, Gamma-LPH, gamma MSH, Ir beta Ep, Ir β Ep, LPH, MSH, Msh α, NPP, OBAIRH, POC, Pomc-1, POMC2, proopiomelanocortin, pro-opiomelanocortin-alpha, pro-opiomelanocortin-α, β-LIPOTROPIN, β-LPH, β-MSH, γ-LPH, γ MSH |
| 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 POMC 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 binding
- Corticotropin ACTH domain
- hormone
- protein binding
- receptor binding
- cleavage site
- Opioids neuropeptide
- Pro-opiomelanocortin, N-terminal region
- sorting signal domain
Pathways
Biological processes and signaling networks where the POMC 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
- epithelial neoplasia
- epithelial cancer
- cancer
- bleeding
- insulin resistance
- obesity
- weight gain
- Cushing syndrome
- hyperleptinemia
- hypoglycemia
role in cell
- accumulation
- phosphorylation in
- expression in
- accumulation in
- activity
- signaling in
- activation in
- proliferation
- invasion by
- cell viability
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- membrane fraction
- peroxisomal matrix
- secretory granule lumen
- Cytoplasm
- perinuclear Golgi regions
- cell periphery
- perinuclear region
- Nucleus
- Golgi Apparatus
- Endoplasmic Reticulum
- granules
- cytosol
- microsome
- trans Golgi network
- Golgi cisternae rim
- cytoplasmic vesicles
- melanosomes
- peroxisomes
- secretory granules
- Golgi cisternae
- membrane processes
- perikaryon
- axons
- dendrites
- immature secretory granules
- dense core granules
- mature secretory granules
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human POMC gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- generation of precursor metabolites and energy
- regulation of appetite
- signal transduction
- cell-cell signaling
- positive regulation of transcription from RNA polymerase II promoter
- regulation of blood pressure
- neuropeptide signaling pathway
- glucose homeostasis
- cellular pigmentation
- regulation of corticosterone secretion
- regulation of glycogen metabolic process
- calcium-mediated signaling
- negative regulation of tumor necrosis factor production
Cellular Component
Where in the cell the gene product is active
- extracellular space
- cytoplasm
- secretory granule
- secretory granule lumen
- extracellular region
Molecular Function
What the gene product does at the molecular level
- G-protein coupled receptor binding
- protein binding
- type 1 melanocortin receptor binding
- type 3 melanocortin receptor binding
- type 4 melanocortin receptor binding
- receptor binding
- hormone activity