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MGP002369

UniProt Annotations

Entry Information
Gene Nameproopiomelanocortin
Protein EntryCOLI_HUMAN
UniProt IDP01189
SpeciesHuman
Comments
Comment typeDescription
DiseaseObesity (OBESITY) [MIM:601665]: A condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat. {ECO:0000269|PubMed:12165561}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry.
DiseasePro-opiomelanocortinin deficiency (POMCD) [MIM:609734]: Affected individuals present early-onset obesity, adrenal insufficiency and red hair. {ECO:0000269|PubMed:9620771}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionACTH stimulates the adrenal glands to release cortisol.
FunctionBeta-endorphin and Met-enkephalin are endogenous opiates.
FunctionMSH (melanocyte-stimulating hormone) increases the pigmentation of skin by increasing melanin production in melanocytes.
PtmO-glycosylated; reducing sugar is probably N- acetylgalactosamine.
PtmSpecific enzymatic cleavages at paired basic residues yield the different active peptides. {ECO:0000269|PubMed:2839146}.
SimilarityBelongs to the POMC family. {ECO:0000305}.
Subcellular LocationSecreted.
Tissue SpecificityACTH and MSH are produced by the pituitary gland.
Web ResourceName=Wikipedia; Note=Melanocyte-stimulating hormone entry; URL="http://en.wikipedia.org/wiki/Melanocyte-stimulating_hormone";
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