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==References in Scientific Papers== |
==References in Scientific Papers== |
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No papers specifically explore the function of C5orf36. There are however two papers that found the gene C5orf36 was disrupted by other genes. Schilts et. al found it was disrupted by the gene [[DGAP242]] in congenital hearing loss, but the paper suggests it is likely not the cause of the hearing loss.<ref>{{cite journal|last1=Schilit|first1=Samantha|last2=Curral|first2=Benjamin|last3=Yao|first3=Ruen|last4=Hanscom|first4=Carrie|last5=Pillalamarri|first5=Vamsee|last6=Lee|first6=Dong-Young|last7=Kammin|first7=Tammy|last8=Zepeda-Mendoza|first8=Cinthya|last9=Mononen|first9=Tarja|last10=Nolan|first10=Lisa|last11=Gusella|first11=James|last12=Talkowski|first12=Michael|last13=Shen|first13=Jun|last14=Morton|first14=Cynthia|title=Samantha LP Schilit, Benjamin B Currall, Ruen Yao, Carrie Hanscom, Ryan L Collins, Vamsee Pillalamarri, Dong-Young Lee, Tammy Kammin, Cinthya J Zepeda-Mendoza, Tarja Mononen, Lisa S Nolan, James F Gusella, Michael E Talkowski, Jun Shen and Cynthia C Morton A: go Springer Nature|journal=European Journal of Human Genetics|date=November 2016|volume=24|page=1622-1626|doi=10.1038/ejhg.2016.64|url=http://www.nature.com/ejhg/journal/v24/n11/full/ejhg201664a.html|accessdate=5 February 2017}}</ref> Crepel et al found it is disrupted in [[Autism Spectrum Disorder]] (ASD) along with [[CDH11]] and [[GFOD2]]. <ref>{{cite journal|last1=Crepel|first1=An|last2=De Wolf|first2=Veerle|last3=Brison|first3=Nathalie|last4=Ceulmans|first4=Berten|last5=Walleghem|first5=Didier|last6=Peutman|first6=Gilian|last7=Lambrechts|first7=Diether|last8=Steyaert|first8=Jean|last9=Noens|first9=Ilse|last10=Devriendt|first10=Koen|last11=Peeters|first11=Hilde|title=Association of CDH11 With Non-Syndromic ASD|journal=American Journal of Medical Genetics Part B: Neuropsychiatric Genetics|date=22 April 2014|volume=165|issue=5|page=391-398|accessdate=21 February 2017}}</ref> There is no indication though that it is the cause of ASD or responsible for any of the symptoms. The article does mention that it has a haploinsufficiency score of 93%. |
No papers specifically explore the function of C5orf36. There are however two papers that found the gene C5orf36 was disrupted by other genes. Schilts et. al found it was disrupted by the gene [[DGAP242]] in congenital hearing loss, but the paper suggests it is likely not the cause of the hearing loss.<ref>{{cite journal|last1=Schilit|first1=Samantha|last2=Curral|first2=Benjamin|last3=Yao|first3=Ruen|last4=Hanscom|first4=Carrie|last5=Pillalamarri|first5=Vamsee|last6=Lee|first6=Dong-Young|last7=Kammin|first7=Tammy|last8=Zepeda-Mendoza|first8=Cinthya|last9=Mononen|first9=Tarja|last10=Nolan|first10=Lisa|last11=Gusella|first11=James|last12=Talkowski|first12=Michael|last13=Shen|first13=Jun|last14=Morton|first14=Cynthia|title=Samantha LP Schilit, Benjamin B Currall, Ruen Yao, Carrie Hanscom, Ryan L Collins, Vamsee Pillalamarri, Dong-Young Lee, Tammy Kammin, Cinthya J Zepeda-Mendoza, Tarja Mononen, Lisa S Nolan, James F Gusella, Michael E Talkowski, Jun Shen and Cynthia C Morton A: go Springer Nature|journal=European Journal of Human Genetics|date=November 2016|volume=24|page=1622-1626|doi=10.1038/ejhg.2016.64|url=http://www.nature.com/ejhg/journal/v24/n11/full/ejhg201664a.html|accessdate=5 February 2017}}</ref> Crepel et al found it is disrupted in [[Autism Spectrum Disorder]] (ASD) along with [[CDH11]] and [[GFOD2]]. <ref>{{cite journal|last1=Crepel|first1=An|last2=De Wolf|first2=Veerle|last3=Brison|first3=Nathalie|last4=Ceulmans|first4=Berten|last5=Walleghem|first5=Didier|last6=Peutman|first6=Gilian|last7=Lambrechts|first7=Diether|last8=Steyaert|first8=Jean|last9=Noens|first9=Ilse|last10=Devriendt|first10=Koen|last11=Peeters|first11=Hilde|title=Association of CDH11 With Non-Syndromic ASD|journal=American Journal of Medical Genetics Part B: Neuropsychiatric Genetics|date=22 April 2014|volume=165|issue=5|page=391-398|accessdate=21 February 2017}}</ref> There is no indication though that it is the cause of ASD or responsible for any of the symptoms. The article does mention that it has a haploinsufficiency score of 93%. |
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C5orf36 is a protein that in humans is encoded by the gene of the same name, located on chromosome 5, 5q15. It is a relatively fast mutating gene, compared to other coding genes. There is however one region which is highly conserved across the species that have the gene, known as DUF4495. It is predicted to be a protein that travels between the nucleus and the cytoplasm. |
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=General Information= |
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C5orf36 has one common alias KIAA0825. The gene is about 478 kb long and contains 22 exons. It produces 10 differents variants: 9 alternatively spliced, and one un-spliced version. The longest mRNA is 7240 bp long and produces a protein 1275 amino acids long. The protein is predicted to weigh about 147.8kDal. It has orthologs in most animals including [[Aplysia californica|''Aplysia californica'']], but is not found outside [[animals]] with the possible exception of [[Clubroot|''Plasmodiophora brassicae'']]. |
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[[File:C5orf36 isoforms.png|thumb|The Isoforms of C5orf36]] |
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=Protein Information= |
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The protein has a predicted weight of 147.8 kDal. <ref>{{cite journal|last1=Brendel|first1=V|last2=Bucher|first2=P|last3=Nourbakhsh|first3=I. R|last4=Blaisdell|first4=B. E|last5=Karlin|first5=S|title=Methods and algorithms for statistical analysis of protein sequences|journal=Proc. Natl. Acad. Sci. U.S.A|date=1992|volume=89|pages=2002-2006}}</ref>,<ref>{{cite web|last1=Brendel|first1=Volker|url=http://workbench.sdsc.edu/|website=Biology Workbench|publisher=Stanford University|accessdate=4/28/2017}}</ref> It does not contain a known nuclear localization signal but does contain a nuclear export signal.<ref>{{cite journal|last1=la Cour|first1=Tanja|last2=Kiemer|first2=Lars|last3=Mølgaard|first3=Anne|last4=Gupta|first4=Ramneek|last5=Skriver|first5=Karen|last6=Brunak|first6=Søren|title=Analysis and prediction of leucine-rich nuclear export signals|journal=Protein Eng. Des. Sel.|date=2004|volume=17|issue=6|page=527-536}}</ref> The subcellular localization for the protein is predicted to be the nucleus and the cytoplasm, which suggests that the protein shuttles back and forth across the nuclear membrane. |
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=Expression= |
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The mRNA for C5orf36 is expressed at relatively low rates.ref>{{cite journal|last1=Úhlen|first1=M|last2=Fagerberg|first2=L|last3=Hallström|first3=B. M|last4=Lindskog|first4=C|last5=Oskvold|first5=P|last6=Mardinoglu|first6=A|title=Proteomics. Tissue-based map of the human proteome.|journal=Science|date=2015|volume=347|page=6220|doi=10.1126/science.1260419}}</ref> The protein however is expressed at relatively high rates, especially in parts of the brain as well as adrenal glands and the thyroid.ref>{{cite journal|last1=Úhlen|first1=M|last2=Fagerberg|first2=L|last3=Hallström|first3=B. M|last4=Lindskog|first4=C|last5=Oskvold|first5=P|last6=Mardinoglu|first6=A|title=Proteomics. Tissue-based map of the human proteome.|journal=Science|date=2015|volume=347|page=6220|doi=10.1126/science.1260419}}</ref> This would suggest that the protein is not readily degraded and remains in the cell for long periods of time. |
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=References= |
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C5orf36
C5orf36 is a protein that in humans is encoded by the gene C5orf36. It is also known as KIAA0825. The gene is located on chromosome 5, 5q15.[1] The gene is about 478 kb long and produces 8 differents variants: 7 alternatively spliced, and one un-spliced version.[2] The longest mRNA is 7240 bp long and produces a protein 1275 amino acids long.[3] It has orthologs in most animals including zebrafish, but is not found in in bacteria or plants with the exception of Plasmodiophora brassicae.
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Human chromosome 5 regions labeled.
Protein Structure
The protein contains no transmembrane or signal domains. It does contain one domain which is poorly understood, that belongs to the DUF4495 protein family.
References in Scientific Papers
No papers specifically explore the function of C5orf36. There are however two papers that found the gene C5orf36 was disrupted by other genes. Schilts et. al found it was disrupted by the gene DGAP242 in congenital hearing loss, but the paper suggests it is likely not the cause of the hearing loss.[4] Crepel et al found it is disrupted in Autism Spectrum Disorder (ASD) along with CDH11 and GFOD2. [5] There is no indication though that it is the cause of ASD or responsible for any of the symptoms. The article does mention that it has a haploinsufficiency score of 93%.
C5orf36 is a protein that in humans is encoded by the gene of the same name, located on chromosome 5, 5q15. It is a relatively fast mutating gene, compared to other coding genes. There is however one region which is highly conserved across the species that have the gene, known as DUF4495. It is predicted to be a protein that travels between the nucleus and the cytoplasm.
General Information
C5orf36 has one common alias KIAA0825. The gene is about 478 kb long and contains 22 exons. It produces 10 differents variants: 9 alternatively spliced, and one un-spliced version. The longest mRNA is 7240 bp long and produces a protein 1275 amino acids long. The protein is predicted to weigh about 147.8kDal. It has orthologs in most animals including Aplysia californica, but is not found outside animals with the possible exception of Plasmodiophora brassicae.
Protein Information
The protein has a predicted weight of 147.8 kDal. [6],[7] It does not contain a known nuclear localization signal but does contain a nuclear export signal.[8] The subcellular localization for the protein is predicted to be the nucleus and the cytoplasm, which suggests that the protein shuttles back and forth across the nuclear membrane.
Expression
The mRNA for C5orf36 is expressed at relatively low rates.ref>Úhlen, M; Fagerberg, L; Hallström, B. M; Lindskog, C; Oskvold, P; Mardinoglu, A (2015). "Proteomics. Tissue-based map of the human proteome". Science. 347: 6220. doi:10.1126/science.1260419.</ref> The protein however is expressed at relatively high rates, especially in parts of the brain as well as adrenal glands and the thyroid.ref>Úhlen, M; Fagerberg, L; Hallström, B. M; Lindskog, C; Oskvold, P; Mardinoglu, A (2015). "Proteomics. Tissue-based map of the human proteome". Science. 347: 6220. doi:10.1126/science.1260419.</ref> This would suggest that the protein is not readily degraded and remains in the cell for long periods of time.
References
- ^ Wikigenes https://www.wikigenes.org/e/gene/e/285600.html.
{{cite web}}: Missing or empty|title=(help) - ^ AceView entry for Homo sapiens gene KIAA0825 [1] accessed 2/5/2017
- ^ AceView https://www.ncbi.nlm.nih.gov/ieb/research/acembly/av.cgi?db=human&term=KIAA0825&submit=Go.
{{cite web}}: Missing or empty|title=(help) - ^ Schilit, Samantha; Curral, Benjamin; Yao, Ruen; Hanscom, Carrie; Pillalamarri, Vamsee; Lee, Dong-Young; Kammin, Tammy; Zepeda-Mendoza, Cinthya; Mononen, Tarja; Nolan, Lisa; Gusella, James; Talkowski, Michael; Shen, Jun; Morton, Cynthia (November 2016). "Samantha LP Schilit, Benjamin B Currall, Ruen Yao, Carrie Hanscom, Ryan L Collins, Vamsee Pillalamarri, Dong-Young Lee, Tammy Kammin, Cinthya J Zepeda-Mendoza, Tarja Mononen, Lisa S Nolan, James F Gusella, Michael E Talkowski, Jun Shen and Cynthia C Morton A: go Springer Nature". European Journal of Human Genetics. 24: 1622-1626. doi:10.1038/ejhg.2016.64. Retrieved 5 February 2017.
- ^ Crepel, An; De Wolf, Veerle; Brison, Nathalie; Ceulmans, Berten; Walleghem, Didier; Peutman, Gilian; Lambrechts, Diether; Steyaert, Jean; Noens, Ilse; Devriendt, Koen; Peeters, Hilde (22 April 2014). "Association of CDH11 With Non-Syndromic ASD". American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 165 (5): 391-398.
{{cite journal}}:|access-date=requires|url=(help) - ^ Brendel, V; Bucher, P; Nourbakhsh, I. R; Blaisdell, B. E; Karlin, S (1992). "Methods and algorithms for statistical analysis of protein sequences". Proc. Natl. Acad. Sci. U.S.A. 89: 2002–2006.
- ^ Brendel, Volker. Biology Workbench. Stanford University http://workbench.sdsc.edu/. Retrieved 4/28/2017.
{{cite web}}: Check date values in:|accessdate=(help); Missing or empty|title=(help) - ^ la Cour, Tanja; Kiemer, Lars; Mølgaard, Anne; Gupta, Ramneek; Skriver, Karen; Brunak, Søren (2004). "Analysis and prediction of leucine-rich nuclear export signals". Protein Eng. Des. Sel. 17 (6): 527-536.