Neuronatin is a protein that in humans is encoded by the NNAT gene involved in mammalian brain development. It is located on Chromosome 20 in humans and is only expressed from the paternal allele in normal adults.[5]
The protein neuronatin, a proteolipid, that functions in the control of ion channels during brain development. Neuronatin begins the differentiation of pluripotent stem cells into cells with a neural fate by increasing their calcium levels.[6] Neuronatin expression in neural tissues throughout the brain contributes to development of the nervous system. It is also expressed in several tissues outside of the brain. For example, expression in skin cells controls the differentiation of keratinocytes. Neuronatin expression functions not only in development, but other processes throughout the body.
Clinical significanceedit
It also plays a direct and indirect role in diabetes. Increased expression in pancreatic islet beta cells causes the beta form of the protein to build an aggregate structure. This causes the cells to undergo apoptosis, thus leading to diabetes mellitus.[6] Its effects on glycogen metabolism through the dephosphorylation and activation of the enzyme glycogen synthase may also play an indirect role in contributing to the disease. A different type of malformation in the gene also has the potential to cause a variety of cancers. Contained within the promoter region of the gene are three CpG islands. These imprint regions function in the regulation of gene expression through the process of cytosine methylation. The loss of methylation within these areas triggers an irregular cell growth, resulting in embryonic neoplasms.[6]
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000053438 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000067786 - Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Numata S, Ye T, Hyde TM, Guitart-Navarro X, Tao R, Wininger M, et al. (February 2012). "DNA methylation signatures in development and aging of the human prefrontal cortex". American Journal of Human Genetics. 90 (2): 260–272. doi:10.1016/j.ajhg.2011.12.020. PMC3276664. PMID 22305529.
^ abcJoseph RM (15 December 2013). "Neuronatin gene: Imprinted and misfolded: Studies in Lafora disease, diabetes and cancer may implicate NNAT-aggregates as a common downstream participant in neuronal loss". Genomics. 103 (2–3): 183–188. doi:10.1016/j.ygeno.2013.12.001. PMID 24345642.
February 27, 2024
neuronatin, protein, that, humans, encoded, nnat, gene, involved, mammalian, brain, development, located, chromosome, humans, only, expressed, from, paternal, allele, normal, adults, nnatidentifiersaliasesnnat, peg5, neuronatinexternal, idsomim, 603106, 104716. Neuronatin is a protein that in humans is encoded by the NNAT gene involved in mammalian brain development It is located on Chromosome 20 in humans and is only expressed from the paternal allele in normal adults 5 NNATIdentifiersAliasesNNAT Peg5 neuronatinExternal IDsOMIM 603106 MGI 104716 HomoloGene 36176 GeneCards NNATGene location Human Chr Chromosome 20 human 1 Band20q11 23Start37 521 206 bp 1 End37 523 690 bp 1 Gene location Mouse Chr Chromosome 2 mouse 2 Band2 78 4 cM 2 H1Start157 401 998 bp 2 End157 404 442 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inganglionic eminencepituitary glandanterior pituitarynucleus accumbenscaudate nucleusamygdalaputamenprefrontal cortexorbitofrontal cortexBrodmann area 9Top expressed inmedian eminencesacculearcuate nucleusmedial ganglionic eminenceoptic nervesubiculumparaventricular nucleus of hypothalamusmaxillary prominencedorsomedial hypothalamic nucleushabenulaMore reference expression dataBioGPSn aOrthologsSpeciesHumanMouseEntrez482618111EnsemblENSG00000053438ENSMUSG00000067786UniProtQ16517Q61979RefSeq mRNA NM 181689NM 005386NM 001322802NM 001291128NM 001291129NM 001291130NM 010923NM 180960RefSeq protein NP 001309731NP 005377NP 859017NP 001278057NP 001278058NP 001278059NP 035053NP 851291Location UCSC Chr 20 37 52 37 52 MbChr 2 157 4 157 4 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseFunction editThe protein neuronatin a proteolipid that functions in the control of ion channels during brain development Neuronatin begins the differentiation of pluripotent stem cells into cells with a neural fate by increasing their calcium levels 6 Neuronatin expression in neural tissues throughout the brain contributes to development of the nervous system It is also expressed in several tissues outside of the brain For example expression in skin cells controls the differentiation of keratinocytes Neuronatin expression functions not only in development but other processes throughout the body Clinical significance editIt also plays a direct and indirect role in diabetes Increased expression in pancreatic islet beta cells causes the beta form of the protein to build an aggregate structure This causes the cells to undergo apoptosis thus leading to diabetes mellitus 6 Its effects on glycogen metabolism through the dephosphorylation and activation of the enzyme glycogen synthase may also play an indirect role in contributing to the disease A different type of malformation in the gene also has the potential to cause a variety of cancers Contained within the promoter region of the gene are three CpG islands These imprint regions function in the regulation of gene expression through the process of cytosine methylation The loss of methylation within these areas triggers an irregular cell growth resulting in embryonic neoplasms 6 References edit a b c GRCh38 Ensembl release 89 ENSG00000053438 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000067786 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Numata S Ye T Hyde TM Guitart Navarro X Tao R Wininger M et al February 2012 DNA methylation signatures in development and aging of the human prefrontal cortex American Journal of Human Genetics 90 2 260 272 doi 10 1016 j ajhg 2011 12 020 PMC 3276664 PMID 22305529 a b c Joseph RM 15 December 2013 Neuronatin gene Imprinted and misfolded Studies in Lafora disease diabetes and cancer may implicate NNAT aggregates as a common downstream participant in neuronal loss Genomics 103 2 3 183 188 doi 10 1016 j ygeno 2013 12 001 PMID 24345642 Retrieved from https en wikipedia org w index php title Neuronatin amp oldid 1191918642, wikipedia, wiki, book, books, library,
