POMC (proopiomelanocortin)

Gene

• Entrez ID: 5443
• Gene name: Proopiomelanocortin
• Gene symbol: POMC
• Synonyms: ACTH, CLIP, LPH, MSH, NPP, OBAIRH, POC
• Chromosome: 2
• Chromosome location: 2p23.3
• Summary: 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28932472	G>C	Risk-factor, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs121918111	C>A,G,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs121918112	T>A	Pathogenic	Stop gained, coding sequence variant
rs746815510	->CACCCGAGGGGCCCCCGAGGGCCCC	Pathogenic	Coding sequence variant, frameshift variant
rs753856820	G>T	Pathogenic	5 prime UTR variant
rs757720012	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs781244602	C>T	Pathogenic	Coding sequence variant, stop gained
rs796065034	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs796065035	->CC	Pathogenic	Frameshift variant, coding sequence variant
rs1553400259	T>G	Pathogenic	Splice acceptor variant
rs1558628852	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1573250294	->T	Pathogenic	Coding sequence variant, stop gained
rs1573254045	G>T	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005899	hsa-miR-488-3p	Luciferase reporter assay, Microarray	21168126
MIRT017417	hsa-miR-335-5p	Microarray	18185580
MIRT735745	hsa-miR-383-3p	Luciferase reporter assay, qRT-PCR	31847355
MIRT735746	hsa-miR-384	Luciferase reporter assay, qRT-PCR	31847355
MIRT005899	hsa-miR-488-3p	Luciferase reporter assay, qRT-PCR	31847355

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001664	Function	G protein-coupled receptor binding	IBA	21873635
GO:0001664	Function	G protein-coupled receptor binding	IDA	19452503
GO:0005102	Function	Signaling receptor binding	IMP	9620771
GO:0005179	Function	Hormone activity	IMP	9620771
GO:0005179	Function	Hormone activity	ISS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005615	Component	Extracellular space	IDA	9620771
GO:0005737	Component	Cytoplasm	ISS
GO:0006091	Process	Generation of precursor metabolites and energy	IMP	9620771
GO:0007165	Process	Signal transduction	IMP	9620771
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007218	Process	Neuropeptide signaling pathway	IEA
GO:0007267	Process	Cell-cell signaling	IMP	9620771
GO:0008217	Process	Regulation of blood pressure	ISS
GO:0019221	Process	Cytokine-mediated signaling pathway	TAS
GO:0030141	Component	Secretory granule	IBA	21873635
GO:0030141	Component	Secretory granule	ISS
GO:0031781	Function	Type 3 melanocortin receptor binding	IPI	19743876
GO:0031782	Function	Type 4 melanocortin receptor binding	IPI	19743876
GO:0032098	Process	Regulation of appetite	IMP	9620771
GO:0032720	Process	Negative regulation of tumor necrosis factor production	IDA	10233018
GO:0033059	Process	Cellular pigmentation	IMP	9620771
GO:0034774	Component	Secretory granule lumen	TAS
GO:0042593	Process	Glucose homeostasis	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	18292087
GO:0070873	Process	Regulation of glycogen metabolic process	IEA
GO:0070996	Function	Type 1 melanocortin receptor binding	IDA	18292087
GO:0070996	Function	Type 1 melanocortin receptor binding	IPI	19743876
GO:2000852	Process	Regulation of corticosterone secretion	IBA	21873635

Other IDs

• MIM: 176830
• HGNC: 9201
• e!Ensembl: ENSG00000115138

Protein

• UniProt ID: P01189
• Protein 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
• Protein function: [Corticotropin]: Stimulates the adrenal glands to release cortisol.; [Melanocyte-stimulating hormone alpha]: Anorexigenic peptide. Increases the pigmentation of skin by increasing melanin production in melanocytes.; [Melanocy
• PDB: 4XNH, 4XPD, 4Y49, 6TUB, 7F53, 7F54, 7PIV, 8F7Q, 8INR, 8IOC
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08384	NPP	27 → 70	Pro-opiomelanocortin, N-terminal region	Family
  PF00976	ACTH_domain	74 → 91	Corticotropin ACTH domain	Family
  PF00976	ACTH_domain	136 → 155	Corticotropin ACTH domain	Family
  PF00976	ACTH_domain	218 → 236	Corticotropin ACTH domain	Family
  PF08035	Op_neuropeptide	237 → 264	Opioids neuropeptide	Family

• Sequence:

  MPRSCCSRSGALLLALLLQASMEVRGWCLESSQCQDLTTESNLLECIRACKPDLSAETPM
  FPGNGDEQPLTENPRKYVMGHFRWDRFGRRNSSSSGSSGAGQKREDVSAGEDCGPLPEGG
  PEPRSDGAKPGPREGKRSYSMEHFRWGKPVGKKRRPVKVYPNGAEDESAEAFPLEFKREL
  TGQRLREGDGPDGPADDGAGAQADLEHSLLVAAEKKDEGPYRMEHFRWGSPPKDKRYGGF
  MTSEKSQTPLVTLFKNAIIKNAYKKGE

• Sequence length: 267