Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

POMC

contributors: mct - updated : 03-05-2013

HGNC name	proopiomelanocortin
HGNC id	9201

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine neuroendocrine pituitary pars intermedia   highly Homo sapiens   neuroendocrine pituitary pars distalis     Homo sapiens Respiratory lung       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a stretch of polyglutamine

HOMOLOGY

interspecies

homolog to murine Pomc1

Homologene

FAMILY

pomc family

CATEGORY

signaling hormone

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,cytosolic,granule

basic FUNCTION	stimulating the adrenal glands to release cortisol
	ACTH/melanocortin precursor, secreted by epidermal keratinocytes and melanocytes and stimulating melanogenesis
	POMC expressing neurons mediate the regulation of orexigenic drive by peripheral hormones such as leptin, cholecystokinin, ghrelin, and insulin
	POMC-derived neuropeptide beta-MSH plays a critical role in the hypothalamic control of body weight
	polypeptide hormone precursor, playing an important role in the regulation of the Hypothalamic-pituitary-adrenal, and is prone to epigenetic regulation due to promoter-related DNA methylation
	essential involvement of POMC peptides and of adrenal glucocorticoids and catecholamines on glucose homeostasis critical for early postnatal survival
	prohormone which undergoes extensive tissue and cell specific post-translational processing producing a number of active peptides with diverse biological roles ranging from control of adrenal function to pigmentation to the regulation of feeding
	in addition to its role in pigmentation, POMC also reduces oxidative stress and enhances the repair of DNA photoproducts in melanocytes, independent of melanin synthesis
	increases UV-induced phospho H2AFX to facilitate formation of DNA repair complexes and repair of DNA photoproducts

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

activation of the MC1R/POMC signaling pathway has been implicated in the regulation of both inflammation and extracellular matrix homeostasis

a component

INTERACTION

DNA

RNA

small molecule

protein	interaction with ESR1 (ESR1 plays an essential role in leptin- and insulin-stimulated upregulation of the POMC gene and this action is likely mediated in a ligand-independent manner)
	interacting with PTPN1 (in POMC neurons plays a role in short-term cold-induced reduction of spontaneous physical activity and may influence cold-induced thermogenesis via enhanced activation of the thyroid axis
	ETV1 is a putative POMC transcription factor
	CNR1 activation did not engage the key regulator of skin pigmentation, cyclic AMP, showing a major difference compared with the regulation of melanogenesis by POMC through MC1R
	AKT1 and its downstream MTOR signaling mediates POMC-induced survival in retinal pigment epithelium cells
	MC1R-activation by POMC stimulating eumelanin synthesis and enhancing repair of ultraviolet radiation (UV)-induced DNA damage
	ARL6IP5 anchor protein that retains interacting proteins in the endoplasmic reticulum, is a critical regulator of food intake and body weight by interacting with POMC

cell & other

REGULATION

activated by	NEUROD1, that activates POMC transcription through dimer formation with various ubiquitous basic helix-loop-helix partners
	leptin (Leptin activation of POMC neurons increases thermogenesis and locomotor activity)
	phospho-STAT3 that activates POMC promoter in response to leptin signaling through a mechanism that requires an SP1-binding site in the POMC promoter

Other

CNTF may directly modulate POMC gene expression via the activation of receptors localized in the cell nucleus, providing a novel plausible mechanism of CNTF action in regulating energy homeostasis

ASSOCIATED DISORDERS

corresponding disease(s)

OARH

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional fusion       aberrant fusion protein interfering with signalling through the MC4R and increasing the risk of obesity constitutional germinal mutation       associated with early onset obesity, adrenal insufficiency, and red hair pigmentation

Susceptibility

to obesity (early onset) to opioid dependence to alcohol dependence

Variant & Polymorphism other	mutation R236G
	8246C>T significantly associated with leptin and/or body fat deposition
	DNA methylation of the POMC gene promoter is associated with craving in alcohol dependence

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS