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].
The RefSeq Genes track shows known human protein-coding and
non-protein-coding genes taken from the NCBI RNA reference sequences
collection (RefSeq). The data underlying this track are updated weekly.
For more information on the different gene tracks, see our Genes FAQ.
Display Conventions and Configuration
This track follows the display conventions for
gene prediction tracks.
The color shading indicates the level of review the RefSeq record has
undergone: predicted (light), provisional (medium), reviewed (dark).
The item labels and display colors of features within this track can be
configured through the controls at the top of the track description page.
Label: By default, items are labeled by gene name. Click the
appropriate Label option to display the accession name instead of the gene
name, show both the gene and accession names, or turn off the label
completely.
Codon coloring: This track contains an optional codon coloring
feature that allows users to quickly validate and compare gene predictions.
To display codon colors, select the genomic codons option from the
Color track by codons pull-down menu. For more information about this
feature, go to the
Coloring Gene Predictions and Annotations by Codon page.
Hide non-coding genes: By default, both the protein-coding and
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Methods
RefSeq RNAs were aligned against the human genome using BLAT. Those
with an alignment of less than 15% were discarded. When a single RNA
aligned in multiple places, the alignment having the highest base identity
was identified. Only alignments having a base identity level within 0.1% of
the best and at least 96% base identity with the genomic sequence were kept.
Credits
This track was produced at UCSC from RNA sequence data generated by scientists
worldwide and curated by the NCBI
RefSeq project.