MMRN1 Gene Summary [Human]

Multimerin is a massive, soluble protein found in platelets and in the endothelium of blood vessels. It is comprised 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) were found to have a deficiency of platelet multimerin. [provided by RefSeq, Jul 2008]

Details

Type
Protein Coding
Official Symbol
MMRN1
Official Name
multimerin 1 [Source:HGNC Symbol;Acc:HGNC:7178]
Ensembl ID
ENSG00000138722
Bio databases IDs NCBI: 22915 Ensembl: ENSG00000138722
Aliases multimerin 1, glycoprotein Ia*
Synonyms 4921530G03Rik, ECM, EMILIN4, GPIa*, MMRN, Multimerin, multimerin 1
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MMRN1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • helix-rich Mycoplasma protein
  • EMI domain
  • EGF domain
  • protein binding
  • EGF_CA
  • C1q domain

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • insomnia
  • COVID-19
  • papillary thyroid cancer
  • Parkinson disease
  • diabetic nephropathy
  • thyroid carcinoma
  • epithelial thyroid cancer
  • irritable bowel syndrome
  • ulcerative colitis
regulated by
role in cell
  • activation
  • adhesion
  • function
  • aggregation

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Extracellular Space
  • detergent resistant lipid raft fraction
  • Cytoplasm
  • cell surface
  • perinuclear region
  • granules
  • alpha granules
  • fibrils
  • secretory granules
  • extracellular matrix
  • dense core granules

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human MMRN1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • negative regulation of wound healing
  • cell adhesion mediated by integrin
  • cell adhesion
  • blood coagulation

Cellular Component

Where in the cell the gene product is active
  • platelet alpha granule lumen
  • platelet alpha granule
  • extracellular region

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • calcium ion binding
  • extracellular matrix constituent conferring elasticity
  • extracellular matrix structural constituent

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