POMC
proopiomelanocortin
Tier: Cilia-Associated Genes
- Ensembl:
- ENSG00000115138
- UniProt:
- P01189
- OMIM:
- 176830
- Synonyms:
- ACTH, CLIP, LPH, MSH, NPP, POC
Ciliogenesis screen results (3 screens)
- Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
- Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
Phenotypes
- Mouse phenotype:
- preweaning lethality; incomplete penetrance; impaired glucose tolerance; abnormal spleen morphology; enlarged spleen
- Human ciliopathy phenotype:
- obesity due to pro-opiomelanocortin deficiency; obesity; Obesity
Subcellular localization
No ciliary localization reported (cilia-associated gene).
References: PMID:33188191
Functional category
- Motile cilium & axoneme; Ciliary assembly/disassembly
Function
Inhibition of ciliogenesis in POMC-expressing developing hypothalamic neurons, by depleting ciliogenic genes IFT88 and KIF3A, leads to adulthood obesity in mice. In contrast, adult-onset ciliary dysgenesis in POMC neurons causes no significant change in adiposity. In developing POMC neurons, abnormal cilia formation disrupts axonal projections through impaired lysosomal protein degradation. Notably, maternal nutrition and postnatal leptin surge have a profound impact on ciliogenesis in the hypothalamus of neonatal mice; through these effects they critically modulate the organization of hypothalamic feeding circuits(PMID: 33188191).