Multimerin 1

MMRN1

Identifiers

MMRN1, ECM, EMILIN4, GPIa*, MMRN, multimerin 1

External IDs

OMIM: 601456 MGI: 1918195 HomoloGene: 49134 GeneCards: MMRN1

Gene location (Human)

Chr.	Chromosome 4 (human)^[1]

Band	4q22.1	Start	89,879,532 bp^[1]
Band	4q22.1	End	89,954,629 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 6 (mouse)^[2]

Band	6 B3\|6 29.22 cM	Start	60,901,960 bp^[2]
Band	6 B3\|6 29.22 cM	End	60,966,362 bp^[2]

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

Achilles tendon

canal of the cervix

right lung

rectum

upper lobe of left lung

Top expressed in

carotid body

Paneth cell

blood

intercostal muscle

dermis

esophagus

conjunctival fornix

proximal straight tubule

skin of abdomen

thoracic diaphragm

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

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

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. S2CID 39874017.
^ ^a ^b "Entrez Gene: MMRN1 multimerin 1".

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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This page was last edited on 27 January 2024, at 09:53

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References

Further reading