• Gene id: 5443

Gene Summary

• Gene Symbol: POMC   Gene   UCSC   Ensembl
• Aliases: ACTH, CLIP, LPH, MSH, NPP, OBAIRH, POC
• Gene name: proopiomelanocortin
• Alternate names: pro-opiomelanocortin, adrenocorticotropic hormone, adrenocorticotropin, alpha-MSH, alpha-melanocyte-stimulating hormone, beta-LPH, beta-MSH, beta-endorphin, beta-melanocyte-stimulating hormone, corticotropin-like intermediary peptide, corticotropin-lipotropin, gamma,
• Gene location: 2p23.3 (25168850: 25160852)     Exons: 4     NC_000002.12
• Gene summary(Entrez): 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, depe
• OMIM: 609948

Protein Summary

• Protein general information: P01189  
  • Name: Pro opiomelanocortin (POMC) (Corticotropin lipotropin) [Cleaved into: NPP; Melanotropin gamma (Gamma MSH); Potential peptide; Corticotropin (Adrenocorticotropic hormone) (ACTH); Melanocyte stimulating hormone alpha (Alpha MSH) (Melanotropin alpha); Cortic
  • Length: 267  
  • Mass: 29424
  • Tissue specificity: ACTH and MSH are produced by the pituitary gland.
• Sequence:

  MPRSCCSRSGALLLALLLQASMEVRGWCLESSQCQDLTTESNLLECIRACKPDLSAETPMFPGNGDEQPLTENPR
  KYVMGHFRWDRFGRRNSSSSGSSGAGQKREDVSAGEDCGPLPEGGPEPRSDGAKPGPREGKRSYSMEHFRWGKPV
  GKKRRPVKVYPNGAEDESAEAFPLEFKRELTGQRLREGDGPDGPADDGAGAQADLEHSLLVAAEKKDEGPYRMEH
  FRWGSPPKDKRYGGFMTSEKSQTPLVTLFKNAIIKNAYKKGE

• Structural information:
  • Interpro: IPR013531  IPR013593  IPR013532  IPR001941  
  • PDB: 4XNH 4XPD 4Y49
  • PDBsum: 4XNH 4XPD 4Y49
  • STRING: ENSP00000384092
• Other Databases: GeneCards:  POMC  Malacards:  POMC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030141	secretory granule	IBA	cellular component
GO:0005615	extracellular space	IBA	cellular component
GO:0001664	G protein-coupled receptor binding	IBA	molecular function
GO:2000852	regulation of corticosterone secretion	IBA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005179	hormone activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0007218	neuropeptide signaling pathway	IEA	biological process
GO:0005179	hormone activity	IEA	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0019221	cytokine-mediated signaling pathway	TAS	biological process
GO:0034774	secretory granule lumen	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:2000852	regulation of corticosterone secretion	IEA	biological process
GO:0070873	regulation of glycogen metabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005179	hormone activity	IEA	molecular function
GO:0042593	glucose homeostasis	IEA	biological process
GO:0030141	secretory granule	IEA	cellular component
GO:0008217	regulation of blood pressure	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0001664	G protein-coupled receptor binding	IDA	molecular function
GO:0031781	type 3 melanocortin receptor binding	IPI	molecular function
GO:0031782	type 4 melanocortin receptor binding	IPI	molecular function
GO:0070996	type 1 melanocortin receptor binding	IDA	molecular function
GO:0070996	type 1 melanocortin receptor binding	IPI	molecular function
GO:0032720	negative regulation of tumor necrosis factor production	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0033059	cellular pigmentation	IMP	biological process
GO:0030141	secretory granule	ISS	cellular component
GO:0008217	regulation of blood pressure	ISS	biological process
GO:0007165	signal transduction	IMP	biological process
GO:0005737	cytoplasm	ISS	cellular component
GO:0005179	hormone activity	IMP	molecular function
GO:0005179	hormone activity	ISS	molecular function
GO:0005102	signaling receptor binding	IMP	molecular function
GO:0032098	regulation of appetite	IMP	biological process
GO:0007267	cell-cell signaling	IMP	biological process
GO:0006091	generation of precursor metabolites and energy	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04080	Neuroactive ligand-receptor interaction
hsa04024	cAMP signaling pathway
hsa04934	Cushing syndrome
hsa04915	Estrogen signaling pathway
hsa04916	Melanogenesis
hsa04925	Aldosterone synthesis and secretion
hsa04920	Adipocytokine signaling pathway
hsa04927	Cortisol synthesis and secretion

Diseases

Associated diseases	References
Genetic obesity	KEGG:H02106
Genetic obesity	KEGG:H02106
Osteoarthritis	PMID:21378032
obesity	PMID:15189116
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq