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POMC proopiomelanocortin [ Homo sapiens (human) ]

Gene ID: 5443, updated on 14-Feb-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
109.20201120 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: Proopiomelanocortin Deficiency
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
G protein-coupled receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
signaling 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
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
cell-cell signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular pigmentation IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytokine-mediated signaling pathway 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
 
positive regulation of transcription by RNA polymerase II 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
secretory granule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
secretory granule ISS
Inferred from Sequence or Structural Similarity
more info
 
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 109.20201120

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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