Biology:ABHD18
 Generic protein structure example |
| Chromosome 4 open reading frame 29 | |
|---|---|
| Identifiers | |
| Symbol | C4orf29 |
| NCBI gene | 80167 |
| HGNC | 26111 |
| RefSeq | NP_001034806.1 |
| UniProt | Q0P651 |
| Other data | |
| Locus | Chr. 4 q28.2 |
ABHD18 is a protein that in Homo sapiens is encoded by the ABHD18 gene.[1]
Gene
ABHD18 is found on the positive strand of the human genome at 4q28.2. It is 74.4 kbp. The gene contains 17 exons.[2] The longest mRNA transcript is composed of 13 exons and is 2200 base pairs.[1]
Homology
Orthologs
Many orthologs to human ABHD18 have been discovered, with the most distant ortholog with high (over 90%) coverage is found in rice Oryza sativa.[4] The protein is not found in fungi. Bacteria of the order Myxobacteria and genus Chitinimonas contain orthologous regions to the C4orf29 protein. The few bacterial homologs indicate a horizontal gene transfer event. The domain of unknown function, DUF2048, is conserved throughout orthologs.
| Organism | NCBI Accession Number | Divergence from Humans (Million Years) | Protein Length (Amino Acids) | Sequence Identity to Human | Sequence Similarity to Human |
|---|---|---|---|---|---|
| Human | NP_001034806.1 | 0 | 414 | 100% | 100% |
| Dog | XP_005631879.1 | 94.2 | 484 | 87% | 89% |
| Canary | XP_009094557.1 | 296 | 414 | 75% | 87% |
| Painted turtle | XP_005282815.1 | 296 | 464 | 73% | 83% |
| Ant | XP_011141314.1 | 782 | 468 | 46% | 64% |
| Flat Worm | NP_492206.1 | 937 | 378 | 33% | 50% |
| Rice | NP_001046183.1 | 1369 | 366 | 31% | 47% |
| Cystobacter violaceus | WP_043404439.1 | 2535 | 321 | 31% | 52% |
Protein
ABHD18 codes a 414 amino acid sequence of 46.9 kDa in humans. The predicted isoelectric point is 9.37.[6] The domain of unknown function, DUF2048, is found from amino acid residues 25 to 414 in the precursor C4orf29 protein.[7] This domain is part of the alpha/beta hydrolase superfamily, which comprises enzymes that catalyze fat metabolism. Predicted post-translational modifications include glycosylation at residues Ser287 and Ser319 [8] and sumoylation[9] at the motifs Phe240 to Gly243, Ala377 to Asp340, and Phe408 to Gly411.
Expression
The protein product of ABHD18 in humans is predicted to be a secreted product. It is ubiquitously expressed at low to moderate levels.[10] In humans, the protein is found at high levels the digestive tract and parathyroid gland.[11] The homologous mouse protein 3110057O12Rik is expressed at high levels in the granule layer of the cerebellum.[12]
Clinical significance
ABHD18 contains highly variable numbers of Alu repeats.[13] A low number of Alu repeats in the human ABHD18 protein is associated with increase prevalence of hepatocellular carcinoma (HCC) in Asian populations. This information is used as a genetic marker to determine genetic risk of HCC.[14] Swine muscle transcriptome analysis indicates high expression of ABHD18 in swine with extreme low levels of fatty acid composition.[15]
References
- ↑ 1.0 1.1 "C4orf29". NCBI. https://www.ncbi.nlm.nih.gov/gene/80167. Retrieved 5 May 2015.
- ↑ "C4orf29". https://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/index.html. Retrieved 2015-05-05.
- ↑ "C4orf29". https://www.genecards.org/.
- ↑ "NP_001034806". http://blast.ncbi.nlm.nih.gov/.
- ↑ Kelley, LA; Sternberg, MJE. "Protein structure prediction on the web: a case study using the Phyre server". http://www.sbg.bio.ic.ac.uk/phyre2/html/page.cgi?id=index. Retrieved 16 Apr 2015.
- ↑ "C4orf29 (human)". Phosphosite.org. http://www.phosphosite.org/proteinAction.do?id=24051&showAllSites=true#appletMsg. Retrieved 2015-05-05.
- ↑ "uncharacterized protein C4orf29 precursor [Homo sapiens"]. https://www.ncbi.nlm.nih.gov/protein/NP_001034806.1.
- ↑ "NetOGlyc4.0 C4orf29". http://www.cbs.dtu.dk/services/NetOGlyc/.
- ↑ "C4orf29 Sumoylation". http://www.abgent.com/sumoplot.
- ↑ "Large-scale analysis of the human transcriptome GDS596". https://www.ncbi.nlm.nih.gov/geo/tools/profileGraph.cgi?ID=GDS596:219980_at. Retrieved 2015-05-05.
- ↑ "C4orf29". http://www.proteinatlas.org/ENSG00000164074-C4orf29/tissue. Retrieved 2015-05-05.
- ↑ "3110057O12Rik". http://mouse.brain-map.org/. Retrieved 2015-05-05.
- ↑ "Alu sequences in undifferentiated human embryonic stem cells display high levels of A-to-I RNA editing". PLOS ONE 5 (6): e11173. June 2010. doi:10.1371/journal.pone.0011173. PMID 20574523.
- ↑ "Genetic variations at loci involved in the immune response are risk factors for hepatocellular carcinoma". Hepatology 52 (6): 2034–43. December 2010. doi:10.1002/hep.23943. PMID 21105107.
- ↑ "Differences in muscle transcriptome among pigs phenotypically extreme for fatty acid composition". PLOS ONE 9 (6): e99720. June 2014. doi:10.1371/journal.pone.0099720. PMID 24926690.
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