GeneID: 165



Names

Common Name: PRELP Type: Gene
Chromosome: 1 (NC_000001.11) Locus: N/A
HUGO Symbol: PRELP Full Name: proline/arginine-rich end leucine-rich repeat protein
Exons: 3 Introns: 2

Description:
PRELP is a glycoprotein of the leucine-rich repeat (LRR) family that is normally expressed in the extracellular matrix of connective tissues. The LRR domain binds to collagen, whereas the N-terminal domain, which is composed of arginine and proline residues providing it with a net positive charge, binds to hepararin and heparan sulfate proteoglycans found on basement membranes. Therefore, PRELP funtions as an anchoring molecule, involved in connecting the basement membrane to the connective tissue. This protein has been shown to bind type I collagen to basement membranes and type II collagen to cartilage. Dysregulated expression of PRELP has been linked to progeroid diseases, such as Hutchinson-Gilford progeria. Polymorphisms in this gene associated to an elevated tricuspid regurgitant jet velocity (TRV) and a greater risk of pulmonary hypertension in individuals with sickle cell disease. Alternatively spliced transcript variants encoding the same protein have been observed.

Synonyms: MST161 , SLRR2A , MSTP161

Comments:
N/A

Sequence Viewer

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Publications / Origin

  1. Lewis M, PRELP, collagen, and a theory of Hutchinson-Gilford progeria., Ageing Res. Rev. , 2(1), 95-105, 2003 PubMed
  2. McEwan PA, Scott PG, Bishop PN, Bella J, Structural correlations in the family of small leucine-rich repeat proteins and proteoglycans., J. Struct. Biol. , 155(2), 294-305, 2006 PubMed
  3. Desai AA, Zhou T, Ahmad H, Zhang W, Mu W, Trevino S, Wade MS, Raghavachari N, Kato GJ, Peters-Lawrence MH, Thiruvoipati T, Turner K, Artz N, Huang Y, Patel AR, Yuan JX, Gordeuk VR, Lang RM, Garcia JG, Machado RF, A novel molecular signature for elevated tricuspid regurgitation velocity in sickle cell disease., Am. J. Respir. Crit. Care Med. , 186(4), 359-68, 2012 PubMed
  4. Mikaelsson E, Österborg A, Jeddi-Tehrani M, Kokhaei P, Ostadkarampour M, Hadavi R, Gholamin M, Akhondi M, Shokri F, Rabbani H, Mellstedt H, A proline/arginine-rich end leucine-rich repeat protein (PRELP) variant is uniquely expressed in chronic lymphocytic leukemia cells., PLoS ONE , 8(6), e67601, 2013 PubMed
Created on 2016-07-20 16:17:17, Last reviewed on 2016-07-21 09:20:00 (Show full history)


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