• Source: Leucine rich repeat containing 27

Leucine rich repeat containing 27 (LRRC27) isoform a is a protein which in humans is encoded by the LRRC27 gene.




Gene


Homo sapiens gene Leucine Rich Repeat containing 27 (LRRC27) is a protein coding gene that is located on chromosome 10 at 10q26.3.... The gene is on the plus (+) strand, and is 8251 base pairs long. The gene has 9 exons




Transcript


LRRC27 has 45 transcript variants. Transcript variant 2 encodes isoform a in humans. The mRNA sequence for this variant is 8251 base pairs in length, 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




Protein


LRRC27 Isoform a in humans is 530 amino acids long with a predicted molecular weight of ~60 kDa and predicted isoelectric point around 9. It is relatively poor in tyrosine compared to other proteins. LRRC27 is also largely localized in the nucleus of a cell.




= Domains and Motifs

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The protein has 5 leucine rich regions and 2 disordered regions




= Structure

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LRRC27 structure is largely helical, with strands present in the leucine rich regions of the protein




= Post-Translational Modifications

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LRRC27 has several phosphorylation, o-linked glycosylation, and sumoylation sites that may change its structure post-translationally.




Evolution






= Paralogs

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Paralogs for LRRC27 include LRRC7 (Leucine Rich Region Containing 7) and LRCH1 (Leucine Rich Repeats and Calponin Homology Domain Containing 1).




= Orthologs

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LRRC27 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




= Phylogeny/History

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LRRC27 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


Enriched LRRC27 expression is present in preeclampsia (PE). 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). 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.




References

Kata Kunci Pencarian:

• Inflamasom
• Leucine rich repeat containing 27
• NOD-like receptor
• LRRC25
• Leucine-rich repeat receptor like protein kinase
• LGR5
• Chromosome 1
• LINGO1
• LRRC57
• ISLR
• LINGO2