Homo sapiens Gene: POMC
Summary
InnateDB Gene IDBG-34380.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol POMC
Gene Name proopiomelanocortin
Synonyms ACTH; CLIP; LPH; MSH; NPP; POC;
Species Homo sapiens
Ensembl Gene ENSG00000115138
Encoded Proteins
proopiomelanocortin
proopiomelanocortin
proopiomelanocortin
proopiomelanocortin
proopiomelanocortin
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:25160853-25168903
Strand Reverse strand
Band p23.3
Transcripts
ENST00000380794 ENSP00000370171
ENST00000264708 ENSP00000264708
ENST00000395826 ENSP00000379170
ENST00000405623 ENSP00000384092
ENST00000449220 ENSP00000387993
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 6 [view]
Protein-Protein 6 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0001664 G-protein coupled receptor binding
GO:0005102 receptor binding
GO:0005179 hormone activity
GO:0031781 type 3 melanocortin receptor binding
GO:0031782 type 4 melanocortin receptor binding
GO:0070996 type 1 melanocortin receptor binding
Biological Process
GO:0006091 generation of precursor metabolites and energy
GO:0007165 signal transduction
GO:0007218 neuropeptide signaling pathway
GO:0007267 cell-cell signaling
GO:0008217 regulation of blood pressure
GO:0016486 peptide hormone processing
GO:0032098 regulation of appetite
GO:0032720 negative regulation of tumor necrosis factor production
GO:0033059 cellular pigmentation
GO:0042593 glucose homeostasis
GO:0044267 cellular protein metabolic process
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0070873 regulation of glycogen metabolic process
GO:2000852 regulation of corticosterone secretion
Cellular Component
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005782 peroxisomal matrix
GO:0030141 secretory granule
GO:0034774 secretory granule lumen
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
G alpha (s) signalling events pathway
Metabolism of lipids and lipoproteins pathway
Class A/1 (Rhodopsin-like receptors) pathway
Signaling by GPCR pathway
Metabolism of steroid hormones and vitamin D pathway
Peptide ligand-binding receptors pathway
Opioid Signalling pathway
Signal Transduction pathway
GPCR downstream signaling pathway
G alpha (i) signalling events pathway
G-protein activation pathway
Cytochrome P450 - arranged by substrate type pathway
Metabolism of proteins pathway
Endogenous sterols pathway
Peptide hormone biosynthesis pathway
Androgen biosynthesis pathway
GPCR ligand binding pathway
Metabolism pathway
Peptide hormone metabolism pathway
Glucocorticoid biosynthesis pathway
Biological oxidations pathway
Phase 1 - Functionalization of compounds pathway
KEGG
Melanogenesis pathway
Adipocytokine signaling pathway pathway
INOH
GPCR signaling pathway
PID BIOCARTA
PID NCI
Glucocorticoid receptor regulatory network
Syndecan-3-mediated signaling events
Cross-References
SwissProt P01189
TrEMBL A6XND7 E9PHK5 K7QX47 K7QZC2 K7QZC9 K7R2I7 K7R2J5 Q53WY7
UniProt Splice Variant
Entrez Gene 5443
UniGene
RefSeq NM_001035256 NM_000939
HUGO HGNC:9201
OMIM 176830
CCDS CCDS1717
HPRD 01462
IMGT
EMBL AC012457 BC065832 CH471053 DQ884404 J00291 J00292 JX003302 JX003303 JX003304 JX003309 JX003311 JX003313 JX003314 JX003316 JX003317 JX003321 M25896 M38297 S76492 V01510
GenPept AAA35799 AAA60140 AAB59621 AAC60644 AAH65832 AAY24354 ABI63371 AFV77533 AFV77534 AFV77535 AFV77538 AFV77540 AFV77542 AFV77543 AFV77545 AFV77546 AFV77550 CAA24754 EAX00729 EAX00730
RNA Seq Atlas 5443