From Wikipedia, the free encyclopedia
Multimerin 1 , also known as elastin microfibril interfacer 4 (EMILIN-4 ), is a protein that, in humans , is encoded by the MMRN1 gene .[ 5] [ 6] [ 7]
Multimerin is a massive, soluble protein found in platelets and in the endothelium of blood vessels . It is composed 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.[ 7]
References
^ a b c GRCh38: Ensembl release 89: ENSG00000138722 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000054641 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ Hayward CP, Hassell JA, Denomme GA, Rachubinski RA, Brown C, Kelton JG (Sep 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. doi :10.1074/jbc.270.31.18246 PMID 7629143 . ^ Torres MD, Van Tuinen P, Kroner PA (Jun 2000). "The human multimerin gene MMRN maps to chromosome 4q22". Cytogenet Cell Genet . 88 (3–4): 275–7. doi :10.1159/000015537 . PMID 10828608 . ^ a b "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. doi :10.1097/00062752-199502050-00003 . PMID 9372017 . 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. doi :10.1172/JCI116502 . PMC 443327 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. doi :10.1182/blood.V87.12.4967.bloodjournal87124967 PMID 8652809 . Hayward CP; Cramer EM; Song Z; et al. (1998). "Studies of multimerin in human endothelial cells" . Blood . 91 (4): 1304–17. doi :10.1182/blood.V91.4.1304 PMID 9454761 . Maurer-Spurej E, Kahr WH, Carter CJ, Pittendreigh C, Cameron M, Cyr TD (2008). "The value of proteomics for the diagnosis of a platelet-related bleeding disorder". Platelets . 19 (5): 342–51. doi :10.1080/09537100802010547 . PMID 18791940 . 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 . 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 . 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 . PMC 528928 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 :10.1160/TH03-02-0123 . 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 . PMC 1850943 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/TH05-02-0140 . PMID 16363244 .
