MMRN1

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Multimerin 1
Identifiers
Symbols MMRN1 ; ECM; EMILIN4; GPIa*; MMRN
External IDs Template:OMIM5 Template:MGI HomoloGene49134
RNA expression pattern
File:PBB GE MMRN1 205612 at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species Human Mouse
Entrez n/a n/a
Ensembl n/a n/a
UniProt n/a n/a
RefSeq (mRNA) n/a n/a
RefSeq (protein) n/a n/a
Location (UCSC) n/a n/a
PubMed search n/a n/a

Multimerin 1, also known as MMRN1, is a human gene.[1]

Multimerin is a massive, soluble protein found in platelets and in the endothelium of blood vessels. It is comprised of subunits linked by interchain disulfide bonds to form large, variably sized homomultimers. Multimerin is a factor V/Va-binding protein and may function as a carrier protein for platelet factor V. It may also have functions as an extracellular matrix or adhesive protein. Recently, patients with an unusual autosomal-dominant bleeding disorder (factor V Quebec/Quebec Platelet Disorder) were found to have a deficiency of platelet multimerin.[1]

References

  1. 1.0 1.1 "Entrez Gene: MMRN1 multimerin 1".

Further reading

  • Hayward CP (1997). "Multimerin: a bench-to-bedside chronology of a unique platelet and endothelial cell protein--from discovery to function to abnormalities in disease". Clinical and investigative medicine. Médecine clinique et experimentale. 20 (3): 176–87. PMID 9189649.
  • Hayward CP, Kelton JG (1998). "Multimerin". Curr. Opin. Hematol. 2 (5): 339–44. PMID 9372017.
  • Hayward CP, Hassell JA, Denomme GA; et al. (1995). "The cDNA sequence of human endothelial cell multimerin. A unique protein with RGDS, coiled-coil, and epidermal growth factor-like domains and a carboxyl terminus similar to the globular domain of complement C1q and collagens type VIII and X.". J. Biol. Chem. 270 (31): 18246–51. PMID 7629143.
  • Hayward CP, Bainton DF, Smith JW; et al. (1993). "Multimerin is found in the alpha-granules of resting platelets and is synthesized by a megakaryocytic cell line". J. Clin. Invest. 91 (6): 2630–9. PMID 8514871.
  • Hayward CP, Rivard GE, Kane WH; et al. (1996). "An autosomal dominant, qualitative platelet disorder associated with multimerin deficiency, abnormalities in platelet factor V, thrombospondin, von Willebrand factor, and fibrinogen and an epinephrine aggregation defect". Blood. 87 (12): 4967–78. PMID 8652809.
  • Hayward CP, Cramer EM, Song Z; et al. (1998). "Studies of multimerin in human endothelial cells". Blood. 91 (4): 1304–17. PMID 9454761.
  • Polgár J, Magnenat E, Wells TN, Clemetson KJ (1999). "Platelet glycoprotein Ia* is the processed form of multimerin--isolation and determination of N-terminal sequences of stored and released forms". Thromb. Haemost. 80 (4): 645–8. PMID 9798985.
  • Torres MD, Van Tuinen P, Kroner PA (2000). "The human multimerin gene MMRN maps to chromosome 4q22". Cytogenet. Cell Genet. 88 (3–4): 275–7. PMID 10828608.
  • 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. PMID 12477932.
  • Gevaert K, Goethals M, Martens L; et al. (2004). "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides". Nat. Biotechnol. 21 (5): 566–9. doi:10.1038/nbt810. PMID 12665801.
  • Jeimy SB, Woram RA, Fuller N; et al. (2005). "Identification of the MMRN1 binding region within the C2 domain of human factor V.". J. Biol. Chem. 279 (49): 51466–71. doi:10.1074/jbc.M409866200. PMID 15452129.
  • 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. PMID 15489334.
  • Hayward CP, Fuller N, Zheng S; et al. (2005). "Human platelets contain forms of factor V in disulfide-linkage with multimerin". Thromb. Haemost. 92 (6): 1349–57. doi:10.1267/THRO04061349. PMID 15583744.
  • Lewandrowski U, Moebius J, Walter U, Sickmann A (2006). "Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach". Mol. Cell Proteomics. 5 (2): 226–33. doi:10.1074/mcp.M500324-MCP200. PMID 16263699.
  • Liu T, Qian WJ, Gritsenko MA; et al. (2006). "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry". J. Proteome Res. 4 (6): 2070–80. doi:10.1021/pr0502065. PMID 16335952.
  • Adam F, Zheng S, Joshi N; et al. (2006). "Analyses of cellular multimerin 1 receptors: in vitro evidence of binding mediated by alphaIIbbeta3 and alphavbeta3". Thromb. Haemost. 94 (5): 1004–11. doi:10.1160/TH05-05-1004. PMID 16363244.

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