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Coiled-coil domain-containing 78 (CCDC78) is a protein in humans encoded by the CCDC78 gene. It has several aliases including C16orf25, FLJ34512, CNM4, and JFP10.[1] It is located on chromosome 16 (16p13.3). The CCDC78 gene is 10892 base pairs long, and the protein contains 438 amino acids.[2] The protein weighs approximately 4.852 KDal.[3] There are several isoforms, including one indicated in disease.[4] Several expression profiles show it has ubiquitiuos expression. Although no paralogs exist, several orthologs do.
Function
[edit]This gene contains a coiled-coil domain-containing protein. The encoded protein is thought to play a role in skeletal muscle contraction. The gene product is found primarily in the perinuclear region, the sarcolemmal membrane, and in the reticular pattern of the sarcoplasm. But, it is also found in the cytoplasm.[4]
mRNA
[edit]General Properties [2]
- Genomic DNA length: 3,892 bp
- Most common mRNA length: 1,611 bp
- 5' Untranslated region: 447 bp
- 3' Untranslated region: 2188 bp
Transcript Variants [1] There are 13 known alternative splicing patterns. These can be seen in the image below. One of these is indicated in disease.[4]
Protein
[edit]General Properties:[3]
- Contains two coiled-coil domains
- Molecular Weight: 4.852 KDal
- Isoelectric Point: 8.27
Expression: When looking at EST profiles in humans, CCDC78 seems to show ubiquitous expression.[2]
Homology: CCDC78 has no known paralogs in the human genome. However, it has several orthologs in other organisms. Orthologs can be found throughout the animal kingdom. CCDC78 is highly conserved in mammals. [3]
Predicted post-translational modification: Phosphorylation of several serine residues has been predicted by using tools at ExPasy.[5]
Predicted secondary structure: Secondary structure of CCDC78 was predicted using the protein secondary structure prediction tool PELE. As would be expected with a coiled-coil domain containing protein, there are several α-helices.[3] The model was predicted to be 98% accurate to 65% of the protein. The predicted image can be seen below.
This predicted model is closely related to tropomyosin - a contractile protein.[6]
Clinical Relevance
[edit]A mutation in this gene has been shown to cause a unique congenital myopathy.[4] This mutation is caused by alternative splicing. CCDC78 has also been associated with an immune response to Hepatitis B.[7]
References
[edit]- ^ a b GeneCards. "CCDC78 Gene". The Human Gene Compendium. Retrieved 2 May 2013.
- ^ a b c "CCDC78". National Center for Biotechnology Information.
- ^ a b c d Biology WorkBench. San Diego Supercomputer Center http://seqtool.sdsc.edu/CGI/BW.cgi#!.
{{cite web}}: Missing or empty|title=(help) - ^ a b c d Majczenko, Karen; Davidson, Ann E.; Camelo-Piragua, Sandra; Agrawal, Pankaj B.; Manfready, Richard A.; Li, Xingli; Joshi, Sucheta; Xu, Jishu; Peng, Weiping; Beggs, Alan H.; Li, Jun Z.; Burmeister, Margit; Dowling, James J. (2012). "Dominant Mutation of CCDC78 in a Unique Congenital Myopathy with Prominent Internal Nuclei and Atypical Cores". The American Journal of Human Genetics. 91 (2): 365–371. doi:10.1016/j.ajhg.2012.06.012. PMC 3415545. PMID 22818856.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: date and year (link) - ^ ExPasy. Swiss Institute of Bioinformatics http://www.expasy.org/.
{{cite web}}: Missing or empty|title=(help) - ^ "Phyre2". Structural Bioinformatics Group.
- ^ Davila, S.; Froeling, F E M.; Tan, A.; Bonnard, C.; Boland, G. J.; Snippe, H.; Hibberd, M. L.; Seielstad, M. (2010). "New genetic associations detected in a host response study to hepatitis B vaccine". Genes Immun. 11 (3): 232–238. doi:10.1038/gene.2010.1. PMID 20237496. S2CID 11183658. Retrieved 2 May 2013.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: date and year (link)