Multimerin 1

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]

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)[1] Band 4q22.1 Start 89,879,532 bp[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] 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 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 [3] [4]
Wikidata
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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]