Prolargin

Prolargin is a protein that in humans is encoded by the PRELP gene.[5]

PRELP
Identifiers
Aliases	PRELP, MST161, MSTP161, SLRR2A, proline/arginine-rich end leucine-rich repeat protein, proline and arginine rich end leucine rich repeat protein
External IDs	OMIM: 601914 MGI: 2151110 HomoloGene: 2041 GeneCards: PRELP
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q32.1 Start 203,475,806 bp[1] End 203,491,352 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1 E4|1 58.02 cM Start 133,910,304 bp[2] End 133,921,414 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • heparin binding • extracellular matrix structural constituent • extracellular matrix structural constituent conferring compression resistance Cellular component • extracellular matrix • Golgi lumen • extracellular vesicle • lysosomal lumen • extracellular exosome • extracellular • proteinaceous extracellular matrix • extracellular region • collagen-containing extracellular matrix Biological process • skeletal system development • cell aging • keratan sulfate biosynthetic process • keratan sulfate catabolic process • axonogenesis Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	5549	116847
Ensembl	ENSG00000188783	ENSMUSG00000041577
UniProt	P51888	Q9JK53
RefSeq (mRNA)	NM_201348 NM_002725	NM_054077
RefSeq (protein)	NP_002716 NP_958505	NP_473418
Location (UCSC)	Chr 1: 203.48 – 203.49 Mb	Chr 1: 133.91 – 133.92 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

The protein encoded by this gene is a leucine-rich repeat protein present in connective tissue extracellular matrix. This protein functions as a molecule anchoring basement membranes to the underlying connective tissue. This protein has been shown to bind type I collagen to basement membranes and type II collagen to cartilage. It also binds the basement membrane heparan sulfate proteoglycan perlecan. This protein is suggested to be involved in the pathogenesis of Hutchinson–Gilford progeria (HGP), which is reported to lack the binding of collagen in basement membranes and cartilage. Alternatively spliced transcript variants encoding the same protein have been observed.[5]

References

1. GRCh38: Ensembl release 89: ENSG00000188783 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000041577 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: PRELP proline/arginine-rich end leucine-rich repeat protein".

Further reading

• Lewis M (2003). "PRELP, collagen, and a theory of Hutchinson–Gilford progeria". Ageing Res. Rev. 2 (1): 95–105. doi:10.1016/S1568-1637(02)00044-2. PMID 12437997.
• Bengtsson E, Neame PJ, Heinegård D, Sommarin Y (1995). "The primary structure of a basic leucine-rich repeat protein, PRELP, found in connective tissues". J. Biol. Chem. 270 (43): 25639–44. doi:10.1074/jbc.270.43.25639. PMID 7592739.
• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
• Grover J, Chen XN, Korenberg JR, et al. (1997). "The gene organization, chromosome location, and expression of a 55-kDa matrix protein (PRELP) of human articular cartilage". Genomics. 38 (2): 109–17. doi:10.1006/geno.1996.0605. PMID 8954791.
• Grover J, Roughley PJ (1999). "Characterization of the human proline/arginine-rich end leucine-rich repeat protein (PRELP) gene promoter and identification of a repressor element". Biochem. J. 336 (1): 77–82. PMC 1219844. PMID 9806887.
• Bengtsson E, Mörgelin M, Sasaki T, et al. (2002). "The leucine-rich repeat protein PRELP binds perlecan and collagens and may function as a basement membrane anchor". J. Biol. Chem. 277 (17): 15061–8. doi:10.1074/jbc.M108285200. PMID 11847210.
• Wistow G, Bernstein SL, Wyatt MK, et al. (2002). "Expressed sequence tag analysis of human RPE/choroid for the NEIBank Project: over 6000 non-redundant transcripts, novel genes and splice variants". Mol. Vis. 8: 205–20. PMID 12107410.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
• Johnson JM, Young TL, Rada JA (2006). "Small leucine rich repeat proteoglycans (SLRPs) in the human sclera: identification of abundant levels of PRELP". Mol. Vis. 12: 1057–66. PMID 17093390.
• Grover J, Lee ER, Mounkes LC, et al. (2007). "The consequence of PRELP overexpression on skin". Matrix Biol. 26 (2): 140–3. doi:10.1016/j.matbio.2006.10.005. PMID 17123807.