ABHD18
 | This article, ABHD18, has recently been created via the Articles for creation process. Please check to see if the reviewer has accidentally left this template after accepting the draft and take appropriate action as necessary.
Reviewer tools: Inform author |
| Chromosome 4 open reading frame 29 | |
|---|---|
| Identifiers | |
| Symbol | ? |
| Other data | |
| Locus | Chr. 4 orf29 |
Chromosome 4 open reading frame 29 (C4orf29) is a protein that in Homo sapiens is encoded by the C4orf29 gene.[1]
Gene
C4orf29 is found on the positive strand of the human genome at 4q28.2. It is 74.4 kbp. The gene contains 16 exons. There are 16 discovered corresponding mRNA isoforms with the largest containing 13 exons[2] and 2200 base pairs in the human mRNA.
Homology
There have been 141 orthologs to C4orf29 discovered, with the most distant found in rice Oryza sativa, but not in fungi. Homologous regions were also found in select bacteria. The domain of unknown function, DUF2048, is found from amino acid residues 25 to 414 in the precursor C4orf29 human protein and is conserved in orthologs.
Protein
C4orf29 codes a 414 amino acid sequence of 46.9 kDa. The predicted pI is 9.37.[3] 16 isoforms have been discovered. 8 of these isoforms cover less than one third of the longest transcript. The domain of unknown function, DUF2048, is found from amino acid residues 25 to 414 in the precursor C4orf29 protein.[4] This domain is part of the alpha/beta hydrolase superfamily, enzymes that catalyze the breakdown of fats. A structural characteristic of this domain is 8 alpha helices. Post-translational modifications include N-linked and O-linked glycosylation, phosphorylation, and sumoylation.
Expression
A 811 bp promoter region was identified. In the non-CDS region, there was high conservation in primates, but no conservation outside of the group. The protein product of C4orf29 is predicted to be a secreted product and is ubiquitously expressed at low to moderate levels.[5] Especially high levels in tissues of the digestive tract and parathyroid gland[6] have been discovered. C4orf29 is also expressed in the granule layer of the cerebellum.[7]
Clinical Significance
C4orf29 has been identified as a protein containing highly variable numbers of Alu repeats. In further studies, a relative low number of Alu repeats were associated with increase prevalence of hepatocellular carcinoma (HCC).C4orf29 has been identified as a protein containing variable numbers of Alu repeats.[8] In further studies, a relative low number of Alu repeats were associated with increase prevalence of hepatocellular carcinoma (HCC).[9] The protein product of C4orf29 is predicted as a secreted protein and has been located in vast tissue types, but at especially high relative levels in tissues of the digestive tract and parathyroid gland. C4orf29 is part of the alpha/beta hydrolase family, and therefore likely contains a structural domain of 8 alpha helices connected to beta sheets. From the mutations that resulted in an amino acid change that changed chemistry, the most common change was from a basic to polar residue, occurring 4 times from the mutants analyzed. These changes could have structural consequences and effect folding of the tertiary protein (NCBI SNP). There are 3 known instances of nonsense mutations. These occurred at amino acid residues Gln241, Arg380, and Arg396. These shortened protein products correspond with previously found protein isoforms.[10]) Interactions identified in a swine muscle transcriptome analysis. In an analysis of fatty acid composition, C4orf29 was expressed twice as much in swine that had extreme low levels of fatty acids.[11]
References
- ^ "C4orf29". NCBI Gene.
- ^ "C4orf29". NCBI AceView.
- ^ "C4orf29 (human)". PhosphoSitePlus.
- ^ "uncharacterized protein C4orf29 precursor [Homo sapiens]". NCBI Protein.
- ^ "Large-scale analysis of the human transcriptome GDS596". NCBI GeoProfile.
- ^ "C4orf29". The Human Protein Atlas.
- ^ "3110057O12Rik". Allen Brain Atlas.
- ^ Osenberg, Sivan (21 Jun 2010). "Alu Sequences in Undifferentiated Human Embryonic Stem Cells Display High Levels of A-to-I RNA Editing". Plos One. doi:DOI: 10.1371/journal.pone.0011173.
{{cite journal}}: Check|doi=value (help) - ^ Clifford, Robert (23 Nov 2010). "Genetic variations at loci involved in the immune response are risk factors for hepatocellular carcinoma". Hepatology. 52 (6): 2034-2043. doi:10.1002/hep.23943.
- ^ [(http://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/index.html "C4orf29"]. NCBI AceView.
{{cite web}}: Check|url=value (help) - ^ Puig-Oliveras, A (June 2014). "Differences in muscle transcriptome among pigs phenotypically extreme for fatty acid composition". PLosOne. 13 (9): 6. doi:10.1371/journal.pone.0099720.
{{cite journal}}: CS1 maint: unflagged free DOI (link)