词条 | C16orf46 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
释义 |
GeneAn alternative name for this gene is FLJ32702, however it is most commonly referred to as C16orf46.[2] LocationThe C16orf26 gene is found on chromosome 16q23.2 negative strand.[4] The promoter region is 1152 base pairs long.[3] It has three exons, one from 1-380 bp, the second from 381-1254 bp, and the third from 1255-1982 bp.[4] ExpressionC16orf46 is broadly expressed in the testis and thyroid as well as 18 other tissues.[5] These tissue expression patterns are found to be low to moderate (25-50%).[6] When looking at tissue profiles, the highest expression is in the adult mammalian kidney, liver, prefrontal cortex, cerebellum, heart, and brain.[7] ProteinProtein AnalysisThe full C16orf46 protein is 417 amino acids long.[9] It has no isoforms, and its most distant ortholog, Rhincodon typus (whale shark), also has no known isoforms.[10] The molecular weight was found to be 45.8 kdal.[11] The isoelectric point is 7.4, average for all proteins, and C16orf46 is electrically neutral.[12] C16orf46 is predicted to be found in the nucleus by all orthologs.[13] The secondary structure of C16orf46 has alternating alpha helices and beta sheets.[14] Protein Level RegulationIn C16orf46, there is N-linked glycosylation, O-linked glycosylation, and SUMOylation.[15][16] There are phosphorylation sites found with the kinases CKII, CKI, PKC, and cdc2.[17] A coronavirus cleavage site is predicted at the 235 amino acid position.[18] There are also tyrosine motif locations between amino acids 42-45 and 251-252.[19] Transcript Level RegulationmRNA folding on the 5' UTR predicts a stem loop twice in the area between base pairs 47-90.[20] HomologsOrthologsC16orf46 has over 50 orthologs ranging from primate to chordate.[21] The table below shows a representation of the diversity of C16orf46 by listing a selection of orthologs found using NCBI. When C16orf46 Homo sapiens was run through a multiple alignment sequence program, Clustal Omega, against 20 true orthologs and 16 distant orthologs, Trp74 and Pro212 were found to be conserved in all.[22]
ParalogsC16orf46 has no known paralogs.[21] MutationsC16orf46 has been compared against Fibrinogen, a protein which mutates rapidly, and Cytochrome C, a protein which mutates slowly. As can be seen below, when multiple species of the three proteins were plotted, C16orf46 more closely resembled that of Fibrinogen than Cytochrome C, suggesting a possible rapid mutation.[21] Interacting ProteinsC16orf46 interacts with FAT3 which has been linked to neurite interactions during development.[23] C16orf46 is thought to have coexpression with the [https://www.genecards.org/cgi-bin/carddisp.pl?gene=PLAC8L1 PLAC8L1] and [https://www.genecards.org/cgi-bin/carddisp.pl?gene=CFAP43&keywords=WDR96 CFAP43] gene, both of unknown function.[24] Clinical SignificanceThere are higher levels of C16orf46 expression in pancreatic adenocarcinoma tumor epithelia tissue compared to the control.[25] There is also higher gene expression in patients with small-cell carcinoma compared to the control.[26] References1. ^{{Cite web|url=https://zhanglab.ccmb.med.umich.edu/I-TASSER/output/S395210/|title=I-TASSER results|website=zhanglab.ccmb.med.umich.edu|access-date=2018-05-07}} 2. ^{{Cite web|url=https://www.genecards.org/cgi-bin/carddisp.pl?gene=C16orf46|title=C16orf46 Gene - GeneCards {{!}} CP046 Protein {{!}} CP046 Antibody|last=Database|first=GeneCards Human Gene|website=www.genecards.org|access-date=2018-05-07}} 3. ^{{Cite web|url=https://www.genomatix.de/|title=Genomatix - NGS Data Analysis & Personalized Medicine|website=www.genomatix.de|access-date=2018-05-07}} 4. ^1 {{Cite web|url=http://vega.archive.ensembl.org/Homo_sapiens/Gene/Summary?g=OTTHUMG00000137629;r=16:8105349|title=Gene: C16orf46 (OTTHUMG00000137629) - Summary - Homo sapiens - Vega Genome Browser 68|website=vega.archive.ensembl.org|language=en-gb|access-date=2018-05-07}} 5. ^1 {{Cite web|url=https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:26525|title=C16orf46 Symbol Report {{!}} HUGO Gene Nomenclature Committee|website=www.genenames.org|access-date=2018-05-01}} 6. ^{{Cite web|url=https://www.ncbi.nlm.nih.gov/geo/|title=Home - GEO - NCBI|last=geo|website=www.ncbi.nlm.nih.gov|language=en|access-date=2018-05-07}} 7. ^{{Cite web|url=https://bgee.org/?page=gene&gene_id=ENSG00000166455|title=Gene: C16orf46 - ENSG00000166455|website=bgee.org|language=en|access-date=2018-05-07}} 8. ^{{Cite web|url=https://www.sigmaaldrich.com/catalog/product/sigma/hpa041136?lang=en®ion=US|title=Anti-C16orf46 antibody produced in rabbit HPA041136|website=Immunohistochemistry, Immunofluorescence|access-date=2018-05-07}} 9. ^{{Cite web|url=https://www.ncbi.nlm.nih.gov/protein/XP_016878406.1|title=uncharacterized protein C16orf46 isoform X1 [Homo sapiens] - Protein - NCBI|website=www.ncbi.nlm.nih.gov|access-date=2018-05-07}} 10. ^{{Cite web|url=https://www.ncbi.nlm.nih.gov/protein/1160128351|title=uncharacterized protein C16orf46 homolog [Rhincodon typus] - Protein - NCBI|website=www.ncbi.nlm.nih.gov|access-date=2018-05-07}} 11. ^{{Cite web|url=http://isoelectric.org/calculate.php|title=CALCULATION OF PROTEIN ISOELECTRIC POINT|last=Kozlowski|first=Lukasz P.|website=isoelectric.org|language=en|access-date=2018-05-07}} 12. ^{{Cite web|url=https://www.ebi.ac.uk/Tools/seqstats/saps/|title=SAPS < Sequence Statistics < EMBL-EBI|last=EMBL-EBI|website=www.ebi.ac.uk|language=en|access-date=2018-05-06}} 13. ^{{Cite web|url=https://psort.hgc.jp/|title=PSORT WWW Server|website=psort.hgc.jp|access-date=2018-05-07}} 14. ^{{Cite web|url=https://toolkit.tuebingen.mpg.de/#/jobs/3627327|title=Bioinformatics Toolkit|website=toolkit.tuebingen.mpg.de|access-date=2018-05-07}} 15. ^{{Cite web|url=http://www.cbs.dtu.dk/services/NetNGlyc/|title=NetNGlyc 1.0 Server|website=www.cbs.dtu.dk|language=en|access-date=2018-05-07}} 16. ^{{Cite web|url=http://www.cbs.dtu.dk/services/NetOGlyc/|title=NetOGlyc 4.0 Server|website=www.cbs.dtu.dk|language=en|access-date=2018-05-07}} 17. ^{{Cite web|url=http://www.cbs.dtu.dk/services/NetPhos/|title=NetPhos 3.1 Server|website=www.cbs.dtu.dk|language=en|access-date=2018-05-07}} 18. ^{{Cite web|url=http://www.cbs.dtu.dk/services/NetCorona/|title=NetCorona 1.0 Server|website=www.cbs.dtu.dk|language=en|access-date=2018-05-07}} 19. ^{{Cite web|url=http://www.hprd.org/|title=Human Protein Reference Database|website=www.hprd.org|access-date=2018-05-07}} 20. ^{{Cite web|url=http://unafold.rna.albany.edu/?q=mfold|title=The Mfold Web Server {{!}} mfold.rit.albany.edu|website=unafold.rna.albany.edu|language=en|access-date=2018-05-07}} 21. ^1 2 {{Cite web|url=https://blast.ncbi.nlm.nih.gov/Blast.cgi|title=BLAST: Basic Local Alignment Search Tool|website=blast.ncbi.nlm.nih.gov|access-date=2018-05-07}} 22. ^{{Cite web|url=https://www.ebi.ac.uk/Tools/msa/clustalo/|title=Clustal Omega < Multiple Sequence Alignment < EMBL-EBI|last=EMBL-EBI|website=www.ebi.ac.uk|language=en|access-date=2018-05-07}} 23. ^{{Cite web|url=https://thebiogrid.org/|title=BioGRID {{!}} Database of Protein, Chemical, and Genetic Interactions|last=Lab|first=Mike Tyers|website=thebiogrid.org|language=en|access-date=2018-05-07}} 24. ^{{Cite web|url=https://string-db.org/cgi/network.pl?taskId=Tsisxb0h6voQ|title=C16orf46 protein (human) - STRING interaction network|website=string-db.org|language=en|access-date=2018-05-07}} 25. ^{{Cite web|url=https://www.ncbi.nlm.nih.gov/geo/tools/profileGraph.cgi?ID=GDS4103:230281_at|title=GDS4103 / 230281_at|website=www.ncbi.nlm.nih.gov|access-date=2018-05-07}} 26. ^{{Cite web|url=https://www.ncbi.nlm.nih.gov/geo/tools/profileGraph.cgi?ID=GDS4794:230281_at|title=GDS4794 / 230281_at|website=www.ncbi.nlm.nih.gov|access-date=2018-05-07}} 1 : Genes on human chromosome 16 |
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