POMC proopiomelanocortin [Homo sapiens (human)] - Gene

Summary

Official Symbol: POMCprovided by HGNC
Official Full Name: proopiomelanocortinprovided by HGNC
Primary source: HGNC:HGNC:9201
See related: Ensembl:ENSG00000115138 MIM:176830; AllianceGenome:HGNC:9201
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: mouse all
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Genomic context

Location:: 2p23.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (25160860..25168580, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (25195313..25203034, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (25383729..25391449, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Fluctuations in serum adrenocorticotropic hormone concentration may predict the onset of immune checkpoint inhibitor-related hypophysitis.
Title: Fluctuations in plasma adrenocorticotropic hormone concentration may predict the onset of immune checkpoint inhibitor-related hypophysitis.
Angiographic cross-filling between inferior petrosal sinuses and alteration of adrenocorticotropic hormone sampling results for tumor localization in Cushing disease.
Title: Angiographic cross-filling between inferior petrosal sinuses and alteration of adrenocorticotropic hormone sampling results for tumor localization in Cushing disease.
The role of breast milk beta-endorphin and relaxin-2 on infant colic.
Title: The role of breast milk beta-endorphin and relaxin-2 on infant colic.
Proopiomelanocortin and its potential functions in the pathological synovium of patients with osteoarthritis.
Title: Proopiomelanocortin and its potential functions in the pathological synovium of patients with osteoarthritis.
Isolated autoimmune adrenocorticotropic hormone deficiency: A positive predictor of survival among cancer patients treated with checkpoint inhibitors.
Title: Isolated autoimmune adrenocorticotropic hormone deficiency: A positive predictor of survival among cancer patients treated with checkpoint inhibitors.
Alpha-melanocyte stimulating hormone (alpha-MSH): biology, clinical relevance and implication in melanoma.
Title: Alpha-melanocyte stimulating hormone (α-MSH): biology, clinical relevance and implication in melanoma.
Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: Implication for MC4R agonist use.
Title: Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: Implication for MC4R agonist use.
Maternal glucose intolerance during pregnancy affects offspring POMC expression and results in adult metabolic alterations in a sex-dependent manner.
Title: Maternal glucose intolerance during pregnancy affects offspring POMC expression and results in adult metabolic alterations in a sex-dependent manner.
Functional characterization of all missense variants in LEPR, PCSK1, and POMC genes arising from single-nucleotide variants.
Title: Functional characterization of all missense variants in LEPR, PCSK1, and POMC genes arising from single-nucleotide variants.
alpha-MSH as a potential biomarker of severity and prognosis after intracerebral hemorrhage: A prospective cohort study.
Title: α-MSH as a potential biomarker of severity and prognosis after intracerebral hemorrhage: A prospective cohort study.

Submit: New GeneRIF Correction See all GeneRIFs (216)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Inherited obesity MedGen: C4054476 OMIM: 601665 GeneReviews: Not available	Compare labs
Obesity due to pro-opiomelanocortin deficiency MedGen: C1857854 OMIM: 609734 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC310777P14 (e-PCR)
- UniSTS:272681

PMC310777P15 (e-PCR)
- UniSTS:272682

PMC314306P6 (e-PCR)
- UniSTS:272938

MARC_6319-6320:997299547:3 (e-PCR)
- UniSTS:269634

GDB:181256 (e-PCR)
- UniSTS:155224

NoName (e-PCR)
- UniSTS:481926

RH79890 (e-PCR)
- UniSTS:89528

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled receptor binding	IBA Inferred from Biological aspect of Ancestor more info
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 adenylate cyclase-activating G protein-coupled receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of oxytocin production	IEA Inferred from Electronic Annotation 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
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
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
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

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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)

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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

NG_008997.1 RefSeqGene

Range

5111..12831

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000939.4 → NP_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, P78442, Q53T23, Q9UD39, Q9UD40

UniProtKB/TrEMBL

Q5TZZ7, Q6FHC8

Related

ENSP00000379170.2, ENST00000395826.7

Conserved Domains (3) summary

pfam00976
Location:218 → 236

ACTH_domain; Corticotropin ACTH domain

pfam08035
Location:237 → 264

Op_neuropeptide; Opioids neuropeptide

pfam08384
Location:28 → 70

NPP; Pro-opiomelanocortin, N-terminal region
NM_001035256.3 → NP_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, P78442, Q53T23, Q9UD39, Q9UD40

UniProtKB/TrEMBL

Q5TZZ7, Q6FHC8

Related

ENSP00000370171.1, ENST00000380794.5

Conserved Domains (3) summary

pfam00976
Location:218 → 236

ACTH_domain; Corticotropin ACTH domain

pfam08035
Location:237 → 264

Op_neuropeptide; Opioids neuropeptide

pfam08384
Location:28 → 70

NPP; Pro-opiomelanocortin, N-terminal region
NM_001319204.2 → NP_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, P78442, Q53T23, Q9UD39, Q9UD40

UniProtKB/TrEMBL

Q5TZZ7, Q6FHC8

Related

ENSP00000264708.3, ENST00000264708.7

Conserved Domains (3) summary

pfam00976
Location:218 → 236

ACTH_domain; Corticotropin ACTH domain

pfam08035
Location:237 → 264

Op_neuropeptide; Opioids neuropeptide

pfam08384
Location:28 → 70

NPP; Pro-opiomelanocortin, N-terminal region
NM_001319205.2 → NP_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, P78442, Q53T23, Q9UD39, Q9UD40

UniProtKB/TrEMBL

Q5TZZ7, Q6FHC8

Related

ENSP00000384092.1, ENST00000405623.5

Conserved Domains (3) summary

pfam00976
Location:218 → 236

ACTH_domain; Corticotropin ACTH domain

pfam08035
Location:237 → 264

Op_neuropeptide; Opioids neuropeptide

pfam08384
Location:28 → 70

NPP; Pro-opiomelanocortin, N-terminal region