MMRN1
Identifiers
AliasesMMRN1, ECM, EMILIN4, GPIa*, MMRN, multimerin 1
External IDsOMIM: 601456 MGI: 1918195 HomoloGene: 49134 GeneCards: MMRN1
Orthologs
SpeciesHumanMouse
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 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

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000138722 - Ensembl, May 2017
  2. 1 2 3 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. 1 2 "Entrez Gene: MMRN1 multimerin 1".

Further reading


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