QuickView for POMC (gene)

Gene Symbol:

POMC Homo sapiens

Full name:

proopiomelanocortin

Synonyms:

ACTH, CLIP, LPH, MSH, NPP, POC, pro-opiomelanocortin, 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

Genomic Location:

Chr 2: 25237226-25245063

Description:

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 biologi...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Bos taurus ,  Danio rerio ,  Canis lupus familiaris ,  Gallus gallus ,  Pan troglodytes

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TGGAAA_NFAT_Q4_01 ,  STAT1_03 ,  NRSF_01 ,  CAGGTG_E12_Q6 ,  NKX25_02 ,  TAATTA_CHX10_01 ,  TATA_01

Cytogenetic Map:

2p23.3

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