Homo sapiens Gene: POMC | |||||||||||||||||||||||||||||
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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
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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] |
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Gene Information | |||||||||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||||||||
Genomic Location | Chromosome 2:25160853-25168903 | ||||||||||||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||||||||||||
Band | p23.3 | ||||||||||||||||||||||||||||
Transcripts |
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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.
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Gene Ontology | |||||||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||||||||||||
NETPATH | |||||||||||||||||||||||||||||
REACTOME |
G alpha (i) signalling events pathway
G alpha (s) signalling events pathway
Peptide ligand-binding receptors pathway
Class A/1 (Rhodopsin-like receptors) pathway
G-protein activation pathway
Opioid Signalling pathway
Peptide hormone biosynthesis pathway
Glucocorticoid biosynthesis pathway
Androgen biosynthesis pathway
Endogenous sterols pathway
Metabolism of lipids and lipoproteins pathway
Signaling by GPCR pathway
Metabolism of steroid hormones and vitamin D pathway
Signal Transduction pathway
GPCR downstream signaling pathway
Cytochrome P450 - arranged by substrate type pathway
Metabolism of proteins pathway
GPCR ligand binding pathway
Metabolism pathway
Peptide hormone metabolism pathway
Biological oxidations pathway
Phase 1 - Functionalization of compounds pathway
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KEGG |
Adipocytokine signaling pathway pathway
Melanogenesis pathway
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INOH |
GPCR signaling pathway
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PID NCI |
Glucocorticoid receptor regulatory network
Syndecan-3-mediated signaling events
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Cross-References | |||||||||||||||||||||||||||||
SwissProt | P01189 | ||||||||||||||||||||||||||||
TrEMBL | A6XND7 E9PHK5 K7QX47 K7QZC2 K7QZC9 K7R2I7 K7R2J5 Q53WY7 | ||||||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||||||
Entrez Gene | 5443 | ||||||||||||||||||||||||||||
UniGene | |||||||||||||||||||||||||||||
RefSeq | NM_000939 NM_001035256 | ||||||||||||||||||||||||||||
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 | ||||||||||||||||||||||||||||