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MMRN1
Identifiers
Aliases	MMRN1, ECM, EMILIN4, GPIa*, MMRN, multimerin 1
External IDs	OMIM: 601456; MGI: 1918195; HomoloGene: 49134; GeneCards: MMRN1; OMA:MMRN1 - orthologs
Gene location (Human) Chr. Chromosome 4 (human) Band 4q22.1 Start 89,879,532 bp End 89,954,629 bp
Gene location (Mouse) Chr. Chromosome 6 (mouse) Band 6 B3|6 29.22 cM Start 60,901,960 bp End 60,966,362 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in pericardium right lobe of thyroid gland left uterine tube gallbladder left lobe of thyroid gland testicle decidua ectocervix Achilles tendon canal of the cervix Top expressed in carotid body Paneth cell blood gastrula intercostal muscle dermis esophagus conjunctival fornix proximal straight tubule skin of abdomen More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding calcium ion binding extracellular matrix structural constituent Cellular component extracellular region platelet alpha granule lumen extracellular matrix collagen-containing extracellular matrix Biological process platelet degranulation cell adhesion blood coagulation positive regulation of cell-substrate adhesion Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 22915 70945 Ensembl ENSG00000138722 ENSMUSG00000054641 UniProt Q13201 B2RPV6 RefSeq (mRNA) NM_007351 NM_001371403 NM_001163507 NM_027613 RefSeq (protein) NP_031377 NP_001358332 NP_001156979 NP_081889 Location (UCSC) Chr 4: 89.88 – 89.95 Mb Chr 6: 60.9 – 60.97 Mb PubMed search
Wikidata
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Multimerin 1, also known as elastin microfibril interfacer 4 (EMILIN-4), is a protein that, in humans, is encoded by the MMRN1 gene.

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.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000138722 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000054641 – 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. 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.
6. 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. S2CID 39874017.
7. ^ "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. 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. S2CID 220574123.
• Hayward CP, Bainton DF, Smith JW, Horsewood P, Stead RH, Podor TJ, 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, Drouin J, Zheng S, Moore JC, 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, Zheng S, Fung R, Massé JM, 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. S2CID 31920329.
• 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, Derge JG, Klausner RD, Collins FS, 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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR, 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. S2CID 23783563.
• Jeimy SB, Woram RA, Fuller N, Quinn-Allen MA, Nicolaes GA, Dahlbäck B, 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, Shenmen CM, Grouse LH, Schuler G, 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, Adam F, Jeimy SB, Horsewood I, 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. S2CID 3935661.
• 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, Camp DG, Monroe ME, Moore RJ, 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, Kelton DS, Sandhu A, Suehiro Y, 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. S2CID 84366459.

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