Leucine rich repeat containing 27

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

LRRC27
Identifiers
Aliases	LRRC27, leucine rich repeat containing 27
External IDs	MGI: 1923862; HomoloGene: 19268; GeneCards: LRRC27; OMA:LRRC27 - orthologs
Gene location (Human) Chr. Chromosome 10 (human)[1] Band 10q26.3 Start 132,332,154 bp[1] End 132,381,508 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7|7 F4 Start 138,792,904 bp[2] End 138,822,895 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sperm left testis right testis right uterine tube ventricular zone anterior pituitary ganglionic eminence granulocyte right frontal lobe cingulate gyrus Top expressed in spermatid testicle spermatocyte granulocyte islet of Langerhans white adipose tissue neural layer of retina zygote secondary oocyte epiblast More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 80313 76612 Ensembl ENSG00000148814 ENSMUSG00000015980 UniProt Q9C0I9 Q80YS5 RefSeq (mRNA) NM_001143757 NM_001143758 NM_001143759 NM_001309474 NM_030626 NM_001143755 NM_027164 RefSeq (protein) NP_001137229 NP_001137230 NP_001137231 NP_001296403 NP_085129 NP_001137227 NP_081440 Location (UCSC) Chr 10: 132.33 – 132.38 Mb Chr 7: 138.79 – 138.82 Mb PubMed search [3] [4]
Wikidata
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Gene

Homo sapiens gene Leucine Rich Repeat containing 27 (LRRC27) is a protein coding gene that is located on chromosome 10 at 10q26.3....^[5] The gene is on the plus (+) strand, and is 8251 base pairs long. The gene has 9 exons^[6]

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,^[7] 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^[8][9]

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.^[10] It is relatively poor in tyrosine compared to other proteins.^[11] LRRC27 is also largely localized in the nucleus of a cell.^[12]

Domains and Motifs

AlphaFold depiction of LRRC27.

The protein has 5 leucine rich regions and 2 disordered regions^[13]

Structure

LRRC27 structure is largely helical, with strands present in the leucine rich regions of the protein^[14]

BioCuckoo Illustrator for Biological Sequences annotated linear depiction of LRRC27 with experimental PTM sites.

Post-Translational Modifications

LRRC27 has several phosphorylation, o-linked glycosylation, and sumoylation sites that may change its structure post-translationally.^[15][16]

Evolution

Paralogs

Paralogs for LRRC27 include LRRC7 (Leucine Rich Region Containing 7) and LRCH1 (Leucine Rich Repeats and Calponin Homology Domain Containing 1).^[17]

Presence of the LRRC27 gene in classes Mammalia, Reptilia, Aves, Amphibian, and Fish are shown. Median date of Divergence from Homo sapiens, sequence identity, and sequence similarly to the human protein are included.

Orthologs

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^[18]

Corrected Sequence Divergence vs Estimated Date of Divergence of LRRC27, LRCH1, Cytochrome C, and Fibrinogen Alpha. Blue indicates LRRC27, red indicates Cytochrome C. Green indicates Fibrinogen Alpha and purple indicates LRCH1.

Phylogeny/History

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).^[19] 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).^[20] 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.^[21]