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词条 C16orf46
释义

  1. Gene

      Location   Expression 

  2. Protein

      Protein Analysis    Protein Level Regulation  

  3. Transcript Level Regulation

  4. Homologs

      Orthologs    Paralogs  

  5. Mutations

  6. Interacting Proteins

  7. Clinical Significance

  8. References

{{Orphan|date=April 2019}}{{infobox_gene}}Chromosome 16 open reading frame 46 is a protein of yet to be determined function in Homo sapiens. It is encoded by the C16orf46 gene with NCBI accession number of [https://www.ncbi.nlm.nih.gov/nuccore/NM_001100873.1 NM_001100873]. It is a protein-coding gene with an overlapping locus.[2]

Gene

An alternative name for this gene is FLJ32702, however it is most commonly referred to as C16orf46.[2]

Location

The 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]

Expression

C16orf46 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]

Protein

Protein Analysis

The 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 Regulation

In 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 Regulation

mRNA folding on the 5' UTR predicts a stem loop twice in the area between base pairs 47-90.[20]

Homologs

Orthologs

C16orf46 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]

SpeciesCommon NameDivergence (MYA)Accession NumberIdentity
Homo sapiensHumans ---[https://www.ncbi.nlm.nih.gov/protein/XP_016878405.1?report=genbank&log$=prottop&blast_rank=1&RID=EGXTM4GY015 XP_016878405.1]100.0%
Ochotona princepsAmerican Pika90[https://www.ncbi.nlm.nih.gov/protein/XP_004584265.1?report=genbank&log$=prottop&blast_rank=1&RID=EGXTM4GY015 XP_004584265.1]52.7%
Octodon degusCommon Degu90[https://www.ncbi.nlm.nih.gov/protein/XP_004626040.1?report=genbank&log$=prottop&blast_rank=1&RID=EGXTM4GY015 XP_003434773.2]47.8%
Ursus maritimusPolar Bear96[https://www.ncbi.nlm.nih.gov/protein/XP_008687958.1?report=genbank&log$=prottop&blast_rank=1&RID=EGXTM4GY015 XP_008687958.1]67.5%
Leptonychotes weddelliiWeddell Seal96[https://www.ncbi.nlm.nih.gov/protein/XP_006748170.1?report=genbank&log$=prottop&blast_rank=1&RID=EH09PF0U014 XP_006748170.1]67.2%
Canis lupusGray Wolf96[https://www.ncbi.nlm.nih.gov/protein/XP_003434773.2?report=genbank&log$=prottop&blast_rank=1&RID=EGXTM4GY015 XP_003434773.2]65.8%
Pteropus vampyrusLarge Flying Fox96[https://www.ncbi.nlm.nih.gov/protein/XP_011354946.1?report=genbank&log$=prottop&blast_rank=1&RID=EGXTM4GY015 XP_011354946.1]63.5%
Sus scrofaWild Boar96[https://www.ncbi.nlm.nih.gov/protein/XP_020952705.1?report=genbank&log$=prottop&blast_rank=1&RID=EH09PF0U014 XP_020952705.1]61.5%
Bos indicusZebu96[https://www.ncbi.nlm.nih.gov/protein/XP_019835282.1?report=genbank&log$=prottop&blast_rank=2&RID=EGXTM4GY015 XP_019835282.1]60.2%
Erinaceus europaeusEuropean Hedgehog96[https://www.ncbi.nlm.nih.gov/protein/XP_007516703.1?report=genbank&log$=prottop&blast_rank=1&RID=EGXTM4GY015 XP_007516703.1]56.7%
Loxodonta africanaAfrican Bush Elephant105[https://www.ncbi.nlm.nih.gov/protein/XP_007516703.1?report=genbank&log$=prottop&blast_rank=1&RID=EGXTM4GY015 XP_010596137.1]60.9%
Sarcophilus harrisiiTasmanian Devil159[https://www.ncbi.nlm.nih.gov/protein/XP_003757901.1?report=genbank&log$=prottop&blast_rank=1&RID=EGXTM4GY015 XP_003757901.1]43.1%
Apteryx australisSouthern Brown Kiwi312[https://www.ncbi.nlm.nih.gov/protein/XP_013796688.1?report=genbank&log$=prottop&blast_rank=1&RID=EGXTM4GY015 XP_013796688.1]18.5%
Aptenodytes forsteriEmperor Penguin312[https://www.ncbi.nlm.nih.gov/protein/XP_019327074.1?report=genbank&log$=prottop&blast_rank=1&RID=EGXTM4GY015 XP_019327074.1]17.4%
Chelonia mydasGreen Sea Turtle312[https://www.ncbi.nlm.nih.gov/protein/XP_007059324.1?report=genbank&log$=prottop&blast_rank=1&RID=EGXTM4GY015 XP_007059324.1]29.7%
Gekko japonicusGekko Japonicus312[https://www.ncbi.nlm.nih.gov/protein/XP_015261305.1?report=genbank&log$=prottop&blast_rank=1&RID=EGXTM4GY015 XP_015261305.1]25.3%
Nanorana parkeriHigh Himalaya Frog352[https://www.ncbi.nlm.nih.gov/protein/XP_018410908.1?report=genbank&log$=prottop&blast_rank=1&RID=EGXTM4GY015 XP_018410908.1]22.4%
Pygocentrus nattereriRed Bellied Piranha435[https://www.ncbi.nlm.nih.gov/protein/XP_017578196.1?report=genbank&log$=prottop&blast_rank=1&RID=EH09PF0U014 XP_017578196.1]21.2%
Lepisosteus oculatusSpotted Gar435[https://www.ncbi.nlm.nih.gov/protein/XP_015223705.1?report=genbank&log$=prottop&blast_rank=1&RID=EGXTM4GY015 XP_015223705.1]20.6%
Callorhinchus miliiAustralian Ghost Shark473[https://www.ncbi.nlm.nih.gov/protein/XP_007887408.1?report=genbank&log$=prottop&blast_rank=1&RID=EGXTM4GY015 XP_007887408.1]22.7%

Paralogs

C16orf46 has no known paralogs.[21]

Mutations

C16orf46 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 Proteins

C16orf46 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 Significance

There 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]

References

1. ^{{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. ^{{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. ^{{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. ^{{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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