Human Gene POMC (ENST00000264708.7) from GENCODE V43
Description: Homo sapiens proopiomelanocortin (POMC), transcript variant 3, mRNA. (from RefSeq NM_001319204) RefSeq Summary (NM_001319204): 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]. Gencode Transcript: ENST00000264708.7 Gencode Gene: ENSG00000115138.11 Transcript (Including UTRs) Position: hg38 chr2:25,160,985-25,168,571 Size: 7,587 Total Exon Count: 4 Strand: - Coding Region Position: hg38 chr2:25,161,081-25,164,772 Size: 3,692 Coding Exon Count: 2
ID:COLI_HUMAN DESCRIPTION: RecName: Full=Pro-opiomelanocortin; Short=POMC; AltName: Full=Corticotropin-lipotropin; Contains: RecName: Full=NPP; Contains: RecName: Full=Melanotropin gamma; AltName: Full=Gamma-MSH; Contains: RecName: Full=Potential peptide; Contains: RecName: Full=Corticotropin; AltName: Full=Adrenocorticotropic hormone; Short=ACTH; Contains: RecName: Full=Melanotropin alpha; AltName: Full=Alpha-MSH; Contains: RecName: Full=Corticotropin-like intermediary peptide; Short=CLIP; Contains: RecName: Full=Lipotropin beta; AltName: Full=Beta-LPH; Contains: RecName: Full=Lipotropin gamma; AltName: Full=Gamma-LPH; Contains: RecName: Full=Melanotropin beta; AltName: Full=Beta-MSH; Contains: RecName: Full=Beta-endorphin; Contains: RecName: Full=Met-enkephalin; Flags: Precursor; FUNCTION: ACTH stimulates the adrenal glands to release cortisol. FUNCTION: MSH (melanocyte-stimulating hormone) increases the pigmentation of skin by increasing melanin production in melanocytes. FUNCTION: Beta-endorphin and Met-enkephalin are endogenous opiates. SUBCELLULAR LOCATION: Secreted. TISSUE SPECIFICITY: ACTH and MSH are produced by the pituitary gland. PTM: Specific enzymatic cleavages at paired basic residues yield the different active peptides. PTM: O-glycosylated; reducing sugar is probably N- acetylgalactosamine. DISEASE: Defects in POMC may be associated with susceptibility to obesity (OBESITY) [MIM:601665]. It is 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. DISEASE: Defects in POMC are the cause of pro-opiomelanocortinin deficiency (POMCD) [MIM:609734]. Affected individuals present early-onset obesity, adrenal insufficiency and red hair. SIMILARITY: Belongs to the POMC family. WEB RESOURCE: Name=Wikipedia; Note=Melanocyte-stimulating hormone entry; URL="http://en.wikipedia.org/wiki/Melanocyte-stimulating_hormone";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P01189
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006091 generation of precursor metabolites and energy GO:0007165 signal transduction GO:0007186 G-protein coupled receptor signaling pathway GO:0007218 neuropeptide signaling pathway GO:0007267 cell-cell signaling GO:0008217 regulation of blood pressure GO:0010469 regulation of receptor activity GO:0019221 cytokine-mediated signaling pathway GO:0031640 killing of cells of other organism GO:0032098 regulation of appetite GO:0032720 negative regulation of tumor necrosis factor production GO:0033059 cellular pigmentation GO:0035821 modification of morphology or physiology of other organism GO:0042593 glucose homeostasis GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0070873 regulation of glycogen metabolic process GO:0070965 positive regulation of neutrophil mediated killing of fungus GO:2000852 regulation of corticosterone secretion
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