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    POMC proopiomelanocortin [ Homo sapiens (human) ]

    Gene ID: 5443, updated on 8-Jul-2021

    Summary

    Official Symbol
    POMCprovided by HGNC
    Official Full Name
    proopiomelanocortinprovided by HGNC
    Primary source
    HGNC:HGNC:9201
    See related
    Ensembl:ENSG00000115138 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; OBAIRH
    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, 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, Jan 2016]
    Expression
    Broad expression in testis (RPKM 2.4), pancreas (RPKM 2.0) and 19 other tissues See more
    Orthologs
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    Genomic context

    See POMC in Genome Data Viewer
    Location:
    2p23.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (25160860..25168580, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (25383729..25391449, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene EFR3 homolog B Neighboring gene SUCLA2 pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 3202 Neighboring gene POMC promoter region Neighboring gene POMC distal enhancer region Neighboring gene long intergenic non-protein coding RNA 1381

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.
    GeneReviews: Not available
    Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
    GeneReviews: Not available
    Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.
    GeneReviews: Not available
    Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.
    GeneReviews: Not available
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    GeneReviews: Not available
    Many sequence variants affecting diversity of adult human height.
    GeneReviews: Not available
    Obesity
    MedGen: C0028754 OMIM: 601665 GeneReviews: Not available
    Compare labs
    Proopiomelanocortin deficiency
    MedGen: C1857854 OMIM: 609734 GeneReviews: Not available
    Compare labs

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G protein-coupled receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables G protein-coupled receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables hormone activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables hormone activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables signaling receptor binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables type 1 melanocortin receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables type 1 melanocortin receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables type 3 melanocortin receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables type 4 melanocortin receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within calcium-mediated signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell-cell signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular pigmentation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in generation of precursor metabolites and energy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in glucose homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of tumor necrosis factor production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in neuropeptide signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cAMP-mediated signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of appetite IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of blood pressure ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of corticosterone secretion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of glycogen metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to melanocyte-stimulating hormone ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in secretory granule IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in secretory granule ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in secretory granule lumen TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    pro-opiomelanocortin
    Names
    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      4840..12838
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000939.4NP_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 3. Variants 1-4 encode the same protein.
      Source sequence(s)
      BC065832, CD108235, HY050419, T29537
      Consensus CDS
      CCDS1717.1
      UniProtKB/Swiss-Prot
      P01189
      Related
      ENSP00000379170.2, ENST00000395826.7
      Conserved Domains (3) summary
      pfam00976
      Location:218236
      ACTH_domain; Corticotropin ACTH domain
      pfam08035
      Location:237264
      Op_neuropeptide; Opioids neuropeptide
      pfam08384
      Location:2870
      NPP; Pro-opiomelanocortin, N-terminal region
    2. NM_001035256.3NP_001030333.1  pro-opiomelanocortin preproprotein

      See identical proteins and their annotated locations for NP_001030333.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 3. Variants 1-4 encode the same protein.
      Source sequence(s)
      BC065832, CD106168, HY050419, T29537
      Consensus CDS
      CCDS1717.1
      UniProtKB/Swiss-Prot
      P01189
      Related
      ENSP00000370171.1, ENST00000380794.5
      Conserved Domains (3) summary
      pfam00976
      Location:218236
      ACTH_domain; Corticotropin ACTH domain
      pfam08035
      Location:237264
      Op_neuropeptide; Opioids neuropeptide
      pfam08384
      Location:2870
      NPP; Pro-opiomelanocortin, N-terminal region
    3. NM_001319204.2NP_001306133.1  pro-opiomelanocortin preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript. Variants 1-4 encode the same protein.
      Source sequence(s)
      BC065832, CD106051, HY050419, T29537
      Consensus CDS
      CCDS1717.1
      UniProtKB/Swiss-Prot
      P01189
      Related
      ENSP00000264708.3, ENST00000264708.7
      Conserved Domains (3) summary
      pfam00976
      Location:218236
      ACTH_domain; Corticotropin ACTH domain
      pfam08035
      Location:237264
      Op_neuropeptide; Opioids neuropeptide
      pfam08384
      Location:2870
      NPP; Pro-opiomelanocortin, N-terminal region
    4. NM_001319205.2NP_001306134.1  pro-opiomelanocortin preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 3. Variants 1-4 encode the same protein.
      Source sequence(s)
      BC065832, HY050419, T29537
      Consensus CDS
      CCDS1717.1
      UniProtKB/Swiss-Prot
      P01189
      Related
      ENSP00000384092.1, ENST00000405623.5
      Conserved Domains (3) summary
      pfam00976
      Location:218236
      ACTH_domain; Corticotropin ACTH domain
      pfam08035
      Location:237264
      Op_neuropeptide; Opioids neuropeptide
      pfam08384
      Location:2870
      NPP; Pro-opiomelanocortin, N-terminal region

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      25160860..25168580 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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