Leucine rich repeat containing 27 (LRRC27) isoform a is a protein which in humans is encoded by the LRRC27 gene.
Gene
editHomo sapiens gene Leucine Rich Repeat containing 27 (LRRC27) is a protein coding gene that is located on chromosome 10 at 10q26.3....[1] The gene is on the plus (+) strand, and is 8251 base pairs long. The gene has 9 exons[2]
Transcript
editLRRC27 has 45 transcript variants. Transcript variant 2 encodes isoform a in humans. The mRNA sequence for this variant is 8251 base pairs in length,[3] and all 9 exons are present.
The LRRC27 transcript has low and variable expression in many tissues, but with notable amounts of the transcript present in the brain, fetal brain, and testis[4][5]
Protein
editLRRC27 Isoform a in humans is 530 amino acids long with a predicted molecular weight of ~60 kDa and predicted isoelectric point around 9.[6] It is relatively poor in tyrosine compared to other proteins.[7] LRRC27 is also largely localized in the nucleus of a cell.[8]
Domains and Motifs
edit
The protein has 5 leucine rich regions and 2 disordered regions[9]
Structure
editLRRC27 structure is largely helical, with strands present in the leucine rich regions of the protein[10]
Post-Translational Modifications
editLRRC27 has several phosphorylation, o-linked glycosylation, and sumoylation sites that may change its structure post-translationally. [11][12]
Evolution
editParalogs
editParalogs for LRRC27 include LRRC7 (Leucine Rich Region Containing 7) and LRCH1 (Leucine Rich Repeats and Calponin Homology Domain Containing 1).[13]
Orthologs
editLRRC27 is widely conserved in mammals, and moderately conserved in certain reptiles, amphibians, fish and birds. There are no orthologs of this LRRC27 gene in invertebrates[14]
Phylogeny/History
editLRRC27 and LRCH1 are neither evolving as quickly as Fibrinogen Alpha nor as slowly as Cytochrome C. LRCH1 appears to also be changing at a slower rate compared to LRRC27.
Clinical Significance
editEnriched LRRC27 expression is present in preeclampsia (PE).[15] LRRC27 is overexpressed in platelets unique to PE, compared to a healthy pregnancy.
A single nucleotide polymorphism in LRRC27 is also significantly associated with the pathogenesis of primary open-angle glaucoma (POAG).[16] Increased expression of LRRC27 with SNP rs116121322 was shown to be associated with POAG.
Another study attempting to characterize the variable responses to weight loss treatment also found that the expression of several genes, including LRRC27, were highly variable between weight loss treatment responders and non-responder groups. [17]
References
edit- ^ NCBI (National Center for Biotechnology Information) Nucleotide. Homo sapiens leucine rich repeat containing 27 (LRRC27). https://www.ncbi.nlm.nih.gov/nuccore/https://www.ncbi.nlm.nih.gov/nuccore/NM_001143757.2 .
- ^ NCBI (National Center for Biotechnology Information) Gene. Homo sapiens leucine rich repeat containing 27 (LRRC27). https://www.ncbi.nlm.nih.gov/gene/80313
- ^ NCBI (National Center for Biotechnology Information) Nucleotide. Homo sapiens leucine rich repeat containing 27 (LRRC27). https://www.ncbi.nlm.nih.gov/nuccore/https://www.ncbi.nlm.nih.gov/nuccore/NM_001143757.2
- ^ National Center for Biotechnology Information. GEO Profile results for LRRC27 AND GDS3113. https://www.ncbi.nlm.nih.gov/geo/tools/profileGraph.cgi?ID=GDS3113:170833
- ^ Szabo, L., Morey, R., Palpant, N.J. et al. Statistically based splicing detection reveals neural enrichment and tissue-specific induction of circular RNA during human fetal development. Genome Biol 16, 126 (2015). https://doi.org/10.1186/s13059-015-0690-5
- ^ Expasy. Compute pI/Mw. (https://web.expasy.org/cgi-bin/compute_pi/pi_tool.cgi )
- ^ EMBL-EBI SAPS. Sequence Statistics. (https://www.ebi.ac.uk/jdispatcher/seqstats/saps/summary?jobId=saps-I20240722-031647-0802-84915747-p1m&js=pass )
- ^ PSORT II Results for LRRC27 protein
- ^ National Center for Biotechnology Information (NCBI) Nucleotide results for LRRC27. https://www.ncbi.nlm.nih.gov/nuccore/NM_001143757.2
- ^ Predict Protein. Secondary Structure results for LRRC27. (https://predictprotein.org/visual_results?req_id=$2y$10$Gx3aBD1BHu5Z5vq.cdU7/uOrEV216aOp5Otixb3XTdz4ugk/w6qZ2#JobRunDialogue )
- ^ DTU Health Tech. Bioinformatic Services. (https://services.healthtech.dtu.dk/ )
- ^ The Cuckoo Group. GPS SUMO. (https://sumo.biocuckoo.cn/showResult.php )
- ^ GeneCards. The Human Gene Database. LRRC27 Paralogs. https://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC27#paralogs
- ^ National Center for Biotechnology Information (NCBI) Ortholog results for LRRC27. https://www.ncbi.nlm.nih.gov/gene/80313/ortholog/?scope=7742
- ^ de Almeida, L. G. N., Young, D., Chow, L., Nicholas, J., Lee, A., Poon, M. C., Dufour, A., & Agbani, E. O. (2022). Proteomics and Metabolomics Profiling of Platelets and Plasma Mediators of Thrombo-Inflammation in Gestational Hypertension and Preeclampsia. Cells, 11(8), 1256. https://doi.org/10.3390/cells11081256
- ^ Kim, Y. W., Kim, Y. J., Cheong, H. S., Shiga, Y., Hashimoto, K., Song, Y. J., Kim, S. H., Choi, H. J., Nishiguchi, K. M., Kawai, Y., Nagasaki, M., Nakazawa, T., Park, K. H., Kim, D. M., & Jeoung, J. W. (2020). Exploring the Novel Susceptibility Gene Variants for Primary Open-Angle Glaucoma in East Asian Cohorts: The GLAU-GENDISK Study. Scientific reports, 10(1), 221. https://doi.org/10.1038/s41598-019-57066-7
- ^ Keller, M., Yaskolka Meir, A., Bernhart, S. H., Gepner, Y., Shelef, I., Schwarzfuchs, D., Tsaban, G., Zelicha, H., Hopp, L., Müller, L., Rohde, K., Böttcher, Y., Stadler, P. F., Stumvoll, M., Blüher, M., Kovacs, P., & Shai, I. (2020). DNA methylation signature in blood mirrors successful weight-loss during lifestyle interventions: The CENTRAL trial. Genome Medicine, 12(1), 97. https://doi.org/10.1186/s13073-020-00794-7
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