C6orf58: Difference between revisions
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'''C6orf58''' is a [[gene]] located at [[locus]] 6q22.33 of [[chromosome 6]] and encodes for the secreted [[protein]] known as UPF0762<ref name=NCBI>{{cite web|title=Homo sapiens chromosome 6 open reading frame 58 (C6orf58), mRNA|url=http://www.ncbi.nlm.nih.gov/nuccore/NM_001010905.1|publisher=National Center for Biotechnology Information|accessdate=26 April 2012}}</ref> . |
'''C6orf58''' is a [[gene]] located at [[locus]] 6q22.33 of [[chromosome 6]] and encodes for the secreted [[protein]] known as UPF0762<ref name=NCBI>{{cite web|title=Homo sapiens chromosome 6 open reading frame 58 (C6orf58), mRNA|url=http://www.ncbi.nlm.nih.gov/nuccore/NM_001010905.1|publisher=National Center for Biotechnology Information|accessdate=26 April 2012}}</ref> . |
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==Gene and mRNA== |
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The gene is 14644 base pairs in length and encodes for 6 [[exons]], which once spliced yields a transcript 1200 base pairs in length. While there are 3 splice variants of C6orf58, only one encodes for a good protein. In humans, C6orf58 expression is limited. Transcripts are predominantly observed in the [[larynx]], [[salivary glands]], and [[trachea]]. |
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==Protein== |
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===Properties === |
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The 1200 bp transcript encodes for the protein UPF0762, which is 330 amino acids in length. UPF0762 is predicted to have a [[molecular weight]] of 37925.9 Daltons and an [[isoelectric point]] of 5.78. However, [[mass spectrometry]] has shown that the observed molecular weight is 32kDa<ref>{{cite journal|last=Mangum|first=J.E.|coauthors=Crombie, F.A.; Kilpatrick, N; Manton, D.J.; Hubbard, M.J.|title=Surface Integrity Governs the Proteome of Hypomineralized Enamel|journal=Journal of Dental Research|year=2010|month=April|volume=89|issue=10|pages=1160-5|pmid=20651090|url=http://jdr.sagepub.com/content/89/10/1160.short}}</ref>. The protein is also predicted to have a [[signal peptide]] 20 amino acids in length. |
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=== Conserved Domains === |
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DUF781 is the singular [[protein domain|domain]] of the protein and spans the majority of the protein's 330 [[amino acids]]. The domain has been linked to [[liver]] development in [[zebrafish]]<ref>{{cite journal|last=Chang|first=Changqing|coauthors=Hu, Minjie; Zhu, Zhihui; Lo, Li Jan; Chen, Jun; Peng, Jinrong|title=liver-enriched gene 1a and 1b Encode Novel Secretory Proteins Essential for Normal Liver Development in Zebrafish|journal=PLoS ONE|year=2011|month=August|volume=6|issue=8|pmid=21857963|url=http://www.plosone.org/article/info:doi%2F10.1371%2Fjournal.pone.0022910|accessdate=21 April 2012}}</ref>. |
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=== Post-Translational Modifications === |
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Observed [[post-translational modifications]] includes [[N-linked glycosylation]] at amino acid 69<ref>{{cite journal|last=Ramachandran|first=Prasanna|coauthors=Boontheung, Pinmannee; Xie, Yongming; Sondej, Melissa; Wong, David; Loo, Joseph|title=Identification of N-linked glycoproteins in human saliva by glycoprotein capture and mass spectrometry|journal=Journal of Proteome Research|year=2006|month=May|volume=5|issue=6|pages=1493-1503|pmid=16740002|url=http://pubs.acs.org.ezp2.lib.umn.edu/doi/full/10.1021/pr050492k|accessdate=21 April 2012}}</ref>. |
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==Pathology== |
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Statistical analysis has shown C6orf58 to be associated with [[pancreatic cancer]] survival time. A [[missense mutation]] at amino acid 18 has been observed in liver cancer cells where [[serine]] becomes [[phenylalanine]]<ref>{{cite journal|last=Li|first=Meng|coauthors=Zhao, Heng; Zhang, Xiaosong; Wood, Laura|title=Inactivating mutations of the chromatin remodeling gene ARID2 in hepatocellular carcinoma|journal=Nature Genetics|year=2011|month=August|volume=43|issue=9|pages=828 - 829|doi=10.1038/ng.903|pmid=21822264|url=http://www.nature.com/ng/journal/v43/n9/full/ng.903.html|accessdate=26 April 2012}}</ref> . Analysis of the mutated protein sequence for a signal peptide shows cleavability at the regular amino acid 20 is lost. |
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==References== |
==References== |
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Revision as of 20:56, 26 April 2012
C6orf58 is a gene located at locus 6q22.33 of chromosome 6 and encodes for the secreted protein known as UPF0762[1] .
Gene and mRNA
The gene is 14644 base pairs in length and encodes for 6 exons, which once spliced yields a transcript 1200 base pairs in length. While there are 3 splice variants of C6orf58, only one encodes for a good protein. In humans, C6orf58 expression is limited. Transcripts are predominantly observed in the larynx, salivary glands, and trachea.
Protein
Properties
The 1200 bp transcript encodes for the protein UPF0762, which is 330 amino acids in length. UPF0762 is predicted to have a molecular weight of 37925.9 Daltons and an isoelectric point of 5.78. However, mass spectrometry has shown that the observed molecular weight is 32kDa[2]. The protein is also predicted to have a signal peptide 20 amino acids in length.
Conserved Domains
DUF781 is the singular domain of the protein and spans the majority of the protein's 330 amino acids. The domain has been linked to liver development in zebrafish[3].
Post-Translational Modifications
Observed post-translational modifications includes N-linked glycosylation at amino acid 69[4].
Pathology
Statistical analysis has shown C6orf58 to be associated with pancreatic cancer survival time. A missense mutation at amino acid 18 has been observed in liver cancer cells where serine becomes phenylalanine[5] . Analysis of the mutated protein sequence for a signal peptide shows cleavability at the regular amino acid 20 is lost.
References
- ^ "Homo sapiens chromosome 6 open reading frame 58 (C6orf58), mRNA". National Center for Biotechnology Information. Retrieved 26 April 2012.
- ^ Mangum, J.E. (2010). "Surface Integrity Governs the Proteome of Hypomineralized Enamel". Journal of Dental Research. 89 (10): 1160–5. PMID 20651090.
{{cite journal}}: Unknown parameter|coauthors=ignored (|author=suggested) (help); Unknown parameter|month=ignored (help) - ^ Chang, Changqing (2011). "liver-enriched gene 1a and 1b Encode Novel Secretory Proteins Essential for Normal Liver Development in Zebrafish". PLoS ONE. 6 (8). PMID 21857963. Retrieved 21 April 2012.
{{cite journal}}: Unknown parameter|coauthors=ignored (|author=suggested) (help); Unknown parameter|month=ignored (help) - ^ Ramachandran, Prasanna (2006). "Identification of N-linked glycoproteins in human saliva by glycoprotein capture and mass spectrometry". Journal of Proteome Research. 5 (6): 1493–1503. PMID 16740002. Retrieved 21 April 2012.
{{cite journal}}: Unknown parameter|coauthors=ignored (|author=suggested) (help); Unknown parameter|month=ignored (help) - ^ Li, Meng (2011). "Inactivating mutations of the chromatin remodeling gene ARID2 in hepatocellular carcinoma". Nature Genetics. 43 (9): 828–829. doi:10.1038/ng.903. PMID 21822264. Retrieved 26 April 2012.
{{cite journal}}: Unknown parameter|coauthors=ignored (|author=suggested) (help); Unknown parameter|month=ignored (help)