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POMC proopiomelanocortin [ Homo sapiens (human) ]

Gene ID: 5443, updated on 23-May-2015
Official Symbol
POMCprovided by HGNC
Official Full Name
proopiomelanocortinprovided by HGNC
Primary source
HGNC:HGNC:9201
See related
Ensembl:ENSG00000115138; HPRD:01462; MIM:176830; Vega:OTTHUMG00000094764
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. 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, Nov 2014]
Orthologs
See POMC in MapViewer
Location:
2p23.3
Exon count:
4
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 2 NC_000002.12 (25160853..25168871, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (25383722..25391559, complement)

Chromosome 2 - NC_000002.12Genomic 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 LOC101929272 Neighboring gene dystrobrevin, beta

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Obesity
MedGen: C0028754 OMIM: 601665 GeneReviews: Not available
Compare labs
Proopiomelanocortin deficiency
MedGen: C1857854 OMIM: 609734 GeneReviews: Proopiomelanocortin Deficiency
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.
NHGRI GWA Catalog
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
NHGRI GWA Catalog
Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.
NHGRI GWA Catalog
Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.
NHGRI GWA Catalog
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
NHGRI GWA Catalog
Many sequence variants affecting diversity of adult human height.
NHGRI GWA Catalog

Protein interactions

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 Interaction Database

  • 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 ...
  • Corticotropin-releasing hormone, organism-specific biosystem (from WikiPathways)
    Corticotropin-releasing hormone, organism-specific biosystemCorticotropin-releasing hormone (CRH) is a neuropeptide secreted abundantly in the paraventricular nucleus of the hypothalamus, amygdala, cerebral cortex and cerebellum in the central nervous system ...
  • 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...
  • Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD), organism-specific biosystem (from REACTOME)
    Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD), organism-specific biosystemThe precursor peptide pro-opiomelanocortin (POMC) gives rise to many peptide hormones through cleavage. The cleavage products corticotropin (ACTH) and beta-lipotropin give rise to smaller peptides th...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases of metabolism, organism-specific biosystem (from REACTOME)
    Diseases of 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...
  • 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...
  • Metabolic disorders of biological oxidation enzymes, organism-specific biosystem (from REACTOME)
    Metabolic disorders of biological oxidation enzymes, organism-specific biosystemThe ability to process xenobiotica and many endogenous compounds is called biotransformation and is catalysed by enzymes mainly in the liver of higher organisms but also a number of other organs such...
  • 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
Products Interactant Other Gene Complex Source Pubs Description

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 
glucose homeostasis IEA
Inferred from Electronic Annotation
more info
 
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
 
regulation of corticosterone secretion IEA
Inferred from Electronic Annotation
more info
 
regulation of glycogen metabolic process IEA
Inferred from Electronic Annotation
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
PubMed 
NOT peroxisome IDA
Inferred from Direct Assay
more info
PubMed 
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
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-LPH
gamma-MSH
lipotropin beta
lipotropin gamma
melanotropin alpha
melanotropin beta
melanotropin gamma
met-enkephalin
opiomelanocortin prepropeptide
pro-ACTH-endorphin
proopiomelanocortin preproprotein

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

    See identical proteins and their annotated locations for NP_000930.1

    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
    NPP; Pro-opiomelanocortin, N-terminal region
    pfam00976
    Location:138176
    ACTH_domain; Corticotropin ACTH domain
    pfam08035
    Location:237265
    Op_neuropeptide; Opioids neuropeptide
  2. NM_001035256.1NP_001030333.1  pro-opiomelanocortin preproprotein

    See identical proteins and their annotated locations for NP_001030333.1

    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
    NPP; Pro-opiomelanocortin, N-terminal region
    pfam00976
    Location:138176
    ACTH_domain; Corticotropin ACTH domain
    pfam08035
    Location:237265
    Op_neuropeptide; Opioids neuropeptide

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p2 Primary Assembly

    Range
    25160853..25168871
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532917.1XP_011531219.1  

    See identical proteins and their annotated locations for XP_011531219.1

    Related
    ENSP00000384092, OTTHUMP00000119991, ENST00000405623, OTTHUMT00000211573
    Conserved Domains (3) summary
    pfam08384
    Location:2771
    NPP; Pro-opiomelanocortin, N-terminal region
    pfam00976
    Location:138176
    ACTH_domain; Corticotropin ACTH domain
    pfam08035
    Location:237265
    Op_neuropeptide; Opioids neuropeptide

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 Alternate CHM1_1.1

    Range
    25313607..25321447
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)