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Multimerin 1

From Wikipedia, the free encyclopedia

MMRN1
Identifiers
AliasesMMRN1, ECM, EMILIN4, GPIa*, MMRN, multimerin 1
External IDsOMIM: 601456; MGI: 1918195; HomoloGene: 49134; GeneCards: MMRN1; OMA:MMRN1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr 6: 60.9 – 60.97 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000138722Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000054641Ensembl, 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. ^ a b "Entrez Gene: MMRN1 multimerin 1".

Further reading

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