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    POMC proopiomelanocortin [ Homo sapiens (human) ]

    Gene ID: 5443, updated on 22-May-2013
    Official Symbol
    POMCprovided by HGNC
    Official Full Name
    proopiomelanocortinprovided by HGNC
    Primary source
    HGNC:9201
    See related
    Ensembl:ENSG00000115138; HPRD:01462; MIM:176830
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LPH; MSH; NPP; POC; ACTH; CLIP
    Summary
    This gene encodes a polypeptide hormone precursor 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 polypeptide precursor 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. 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, Jul 2008]
    Location :
    2p23.3
    Sequence :
    Chromosome: 2; NC_000002.11 (25383722..25391559, complement)
    See POMC in Epigenomics, MapViewer

    Chromosome 2 - NC_000002.11Genomic Context describing neighboring genes Neighboring gene DNAJC27 antisense RNA 1 Neighboring gene EFR3 homolog B (S. cerevisiae) Neighboring gene succinate-CoA ligase, ADP-forming, beta subunit pseudogene 3 Neighboring gene DNA (cytosine-5-)-methyltransferase 3 alpha Neighboring gene microRNA 1301 Neighboring gene uncharacterized LOC100131510

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env UV-inactivated HIV and the viral envelope protein, gp120, are able to induce ACTH production in cultured T lymphocytes PubMed

    Go to the HIV-1, Human Protein Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description
    P01189 O15520 FGF10    HPRD  PubMed  
    P01189 P01913 HLA-DRB3    HPRD  PubMed  
    P01189 Q01726 MC1R    HPRD  PubMed  
    P01189 Q01718 MC2R    HPRD  PubMed  
    P01189 P32245 MC4R    HPRD  PubMed  
    P01189 P33032 MC5R    HPRD  PubMed  
    P01189 Q16819 MEP1A    HPRD  PubMed  
    P01189 O43847 NRD1    HPRD  PubMed  
    P01189 P04004 VTN    HPRD  PubMed  
    BioGRID:111439 BioGRID:106848 APP    BioGRID  PubMed Reconstituted Complex 
    BioGRID:111439 BioGRID:109370 HLA-DRB3    BioGRID  PubMed Co-crystal Structure 
    BioGRID:111439 BioGRID:110327 MC1R    BioGRID  PubMed Reconstituted Complex 
    BioGRID:111439 BioGRID:110329 MC3R    BioGRID  PubMed Reconstituted Complex 
    BioGRID:111439 BioGRID:110330 MC4R    BioGRID  PubMed Reconstituted Complex 
    BioGRID:111439 BioGRID:110331 MC5R    BioGRID  PubMed Reconstituted Complex 
    BioGRID:111439 BioGRID:113287 VTN    BioGRID  PubMed Reconstituted Complex 
    • Adipocytokine signaling pathway, organism-specific biosystem (from KEGG)
      Adipocytokine signaling pathway, organism-specific biosystemIncreased adipocyte volume and number are positively correlated with leptin production, and negatively correlated with production of adiponectin. Leptin is an important regulator of energy intake and...
    • Adipocytokine signaling pathway, conserved biosystem (from KEGG)
      Adipocytokine signaling pathway, conserved biosystemIncreased adipocyte volume and number are positively correlated with leptin production, and negatively correlated with production of adiponectin. Leptin is an important regulator of energy intake and...
    • Androgen biosynthesis, organism-specific biosystem (from REACTOME)
      Androgen biosynthesis, organism-specific biosystemAndrogens are the determining factors for male development and behaviour in vertebrates (Miller 2002).
    • Biological oxidations, organism-specific biosystem (from REACTOME)
      Biological oxidations, organism-specific biosystemAll organisms are constantly exposed to foreign chemicals every day. These can be man-made (drugs, industrial chemicals) or natural (alkaloids, toxins from plants and animals). Uptake is usually via ...
    • Class A/1 (Rhodopsin-like receptors), organism-specific biosystem (from REACTOME)
      Class A/1 (Rhodopsin-like receptors), organism-specific biosystemRhodopsin-like receptors (class A/1) are the largest group of GPCRs and are the best studied group from a functional and structural point of view. They show great diversity at the sequence level and ...
    • Cytochrome P450 - arranged by substrate type, organism-specific biosystem (from REACTOME)
      Cytochrome P450 - arranged by substrate type, organism-specific biosystemThe P450 isozyme system is the major phase 1 biotransforming system in man, accounting for more than 90% of drug biotransformations. This system has huge catalytic versatility and a broad substrate s...
    • Endogenous sterols, organism-specific biosystem (from REACTOME)
      Endogenous sterols, organism-specific biosystemA number of CYPs take part in cholesterol biosynthesis and elimination, thus playing an important role in maintaining cholesterol homeostasis. Under normal physiological conditions, cholesterol intak...
    • G alpha (i) signalling events, organism-specific biosystem (from REACTOME)
      G alpha (i) signalling events, organism-specific biosystemThe classical signalling mechanism for G alpha (i) is inhibition of the cAMP dependent pathway through inhibition of adenylate cyclase. Decreased production of cAMP from ATP results in decreased act...
    • G alpha (s) signalling events, organism-specific biosystem (from REACTOME)
      G alpha (s) signalling events, organism-specific biosystemThe general function of the G alpha (s) subunit (Gs) is to activate adenylate cyclase, which in turn produces cAMP, leading to the activation of cAMP-dependent protein kinases (often referred to col...
    • G-protein activation, organism-specific biosystem (from REACTOME)
      G-protein activation, organism-specific biosystemReceptor activated heterotrimeric G proteins consist of the Galpha and the tightly associated Gbeta-gamma subunits. When a ligand binds to a G protein-coupled receptor, it stabilises a conformation ...
    • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
      GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
    • GPCR ligand binding, organism-specific biosystem (from REACTOME)
      GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
    • Glucocorticoid biosynthesis, organism-specific biosystem (from REACTOME)
      Glucocorticoid biosynthesis, organism-specific biosystemCortisol, the major human glucocorticoid, is synthesized in the zona fasciculata of the adrenal cortex from pregnenolone. Pregnenolone is converted to 17alpha-hydoxyprogesterone in two reactions, bot...
    • Glucocorticoid receptor regulatory network, organism-specific biosystem (from Pathway Interaction Database)
      Glucocorticoid receptor regulatory network, organism-specific biosystem
      Glucocorticoid receptor regulatory network
    • Melanogenesis, organism-specific biosystem (from KEGG)
      Melanogenesis, organism-specific biosystemCutaneous melanin pigment plays a critical role in camouflage, mimicry, social communication, and protection against harmful effects of solar radiation. Melanogenesis is under complex regulatory cont...
    • Melanogenesis, conserved biosystem (from KEGG)
      Melanogenesis, conserved biosystemCutaneous melanin pigment plays a critical role in camouflage, mimicry, social communication, and protection against harmful effects of solar radiation. Melanogenesis is under complex regulatory cont...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Metabolism of steroid hormones and vitamin D, organism-specific biosystem (from REACTOME)
      Metabolism of steroid hormones and vitamin D, organism-specific biosystemSteroid hormones are synthesized primarily in the adrenal gland and gonads. They regulate energy metabolism and stress responses (glucocorticoids), salt balance (mineralocorticoids), and sexual devel...
    • Opioid Signalling, organism-specific biosystem (from REACTOME)
      Opioid Signalling, organism-specific biosystemOpioids are chemical substances similar to opiates, the active substances found in opium (morphine, codeine etc.). Opioid action is mediated by the receptors for endogenous opioids; peptides such as...
    • Peptide hormone biosynthesis, organism-specific biosystem (from REACTOME)
      Peptide hormone biosynthesis, organism-specific biosystemPeptide hormones are peptides that are secreted directly into the blood stream (endocrine hormones). They are synthesized as precursors that require proteolytic processing (not discussed here) to gen...
    • Peptide hormone metabolism, organism-specific biosystem (from REACTOME)
      Peptide hormone metabolism, organism-specific biosystemPeptide hormones are cleaved from larger precursors in the secretory system (endoplasmic reticulum, Golgi apparatus, secretory granules) of the cell. After secretion peptide hormones are modified and...
    • Peptide ligand-binding receptors, organism-specific biosystem (from REACTOME)
      Peptide ligand-binding receptors, organism-specific biosystemThese receptors, a subset of the Class A/1 (Rhodopsin-like) family, all bind peptide ligands which include the chemokines, opioids and somatostatins.
    • Phase 1 - Functionalization of compounds, organism-specific biosystem (from REACTOME)
      Phase 1 - Functionalization of compounds, organism-specific biosystemPhase 1 of metabolism is concerned with functionalization, that is the introduction or exposure of functional groups on the chemical structure of a compound. This provides a 'handle' for phase 2 conj...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by GPCR, organism-specific biosystem (from REACTOME)
      Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
    • Syndecan-3-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
      Syndecan-3-mediated signaling events, organism-specific biosystem
      Syndecan-3-mediated signaling events

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    G-protein coupled receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    hormone activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    hormone activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    receptor binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    type 1 melanocortin receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    type 1 melanocortin receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    type 3 melanocortin receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    type 4 melanocortin receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cell-cell signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular pigmentation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular protein metabolic process TAS
    Traceable Author Statement
    more info
     
    generation of precursor metabolites and energy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of tumor necrosis factor production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neuropeptide signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    peptide hormone processing TAS
    Traceable Author Statement
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of appetite IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of blood pressure ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peroxisomal matrix IDA
    Inferred from Direct Assay
    more info
     
    NOT peroxisome IDA
    Inferred from Direct Assay
    more info
     
    secretory granule ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    secretory granule lumen TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    pro-opiomelanocortin
    Names
    pro-opiomelanocortin
    beta-LPH
    beta-MSH
    alpha-MSH
    gamma-LPH
    gamma-MSH
    beta-endorphin
    met-enkephalin
    lipotropin beta
    lipotropin gamma
    melanotropin beta
    melanotropin alpha
    melanotropin gamma
    pro-ACTH-endorphin
    adrenocorticotropin
    corticotropin-lipotropin
    adrenocorticotropic hormone
    opiomelanocortin prepropeptide
    proopiomelanocortin preproprotein
    beta-melanocyte-stimulating hormone
    alpha-melanocyte-stimulating hormone
    corticotropin-like intermediary peptide

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008997.1 RefSeqGene

      Range
      5001..12838
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000939.2NP_000930.1  pro-opiomelanocortin preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AW951218, BC065832, CB988233, CR541826
      Consensus CDS
      CCDS1717.1
      UniProtKB/Swiss-Prot
      P01189
      UniProtKB/TrEMBL
      Q6FHC8
      Conserved Domains (3) summary
      pfam08384
      Location:2771
      Blast Score: 197
      NPP; Pro-opiomelanocortin, N-terminal region
      pfam00976
      Location:138176
      Blast Score: 116
      ACTH_domain; Corticotropin ACTH domain
      pfam08035
      Location:237265
      Blast Score: 124
      Op_neuropeptide; Opioids neuropeptide
    2. NM_001035256.1NP_001030333.1  pro-opiomelanocortin preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AI341269, AW951218, BC065832, CB988233
      Consensus CDS
      CCDS1717.1
      UniProtKB/Swiss-Prot
      P01189
      Related
      ENSP00000370171, ENST00000380794
      Conserved Domains (3) summary
      pfam08384
      Location:2771
      Blast Score: 197
      NPP; Pro-opiomelanocortin, N-terminal region
      pfam00976
      Location:138176
      Blast Score: 116
      ACTH_domain; Corticotropin ACTH domain
      pfam08035
      Location:237265
      Blast Score: 124
      Op_neuropeptide; Opioids neuropeptide

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000002.11 Reference GRCh37.p10 Primary Assembly

      Range
      25383722..25391559, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000134.1 Alternate HuRef

      Range
      25121466..25129306, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018913.1 Alternate CHM1_1.0

      Range
      25303006..25310846, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

      Supplemental Content

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