2. Gene
  3. MMRN1 - multimerin 1 Gene

MMRN1 - multimerin 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as ECM; MMRN; GPIa*; EMILIN4

Gene ID: 22915 | Gene type: protein coding

About MMRN1

Cytogenetic location: 4q22.1 Genomic coordinates (GRCh38): 4:89,879,511-89,954,614 (from NCBI)

This gene has 4 transcripts (splice variants), 124 orthologues and 4 paralogues. Broad expression in placenta (RPKM 19.8), gall bladder (RPKM 14.4) and 19 other tissues.

Summary

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]

MMRN1 Products(3)

mRNA Protein Name
NM_001371403.1 NP_001358332.1 multimerin-1 isoform 1 precursor
NM_001410735.1 NP_001397664.1 multimerin-1 isoform 2
NM_007351.3 NP_031377.2 multimerin-1 isoform 1 precursor

MMRN1 Protein Structure

EMI

EMI: EMI domain (207 - 278)

EGF

EGF: EGF-like domain (1045 - 1075)

C1q

C1q: C1q domain (1102 - 1225)

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  • 1228 a.a.
Protein Preferred Names Protein Names

multimerin-1

elastin microfibril interface located protein 4

Related Diseases

Diseases Alias
Quebec Platelet Disorder

Factor V Quebec

QPD

Bdplt5

Bleeding Disorder, Platelet-Type, 5

Platelet-Type Bleeding Disorder 5

Bleeding Disorder Platelet-Type 5

Platelet Disorder, Quebec
Blood Platelet Disease

Platelet Disorder

Blood Platelet Disorders

Thrombocytopathy

Platelet Dysfunction

Platelet Disorders

Qualitative Platelet Deficiency
Thrombocytopenia With Beta-Thalassemia, X-Linked

XLTT

Thrombocytopenia, Platelet Dysfunction, Hemolysis, And Imbalanced Globin Synthesis

Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome

Gata1-Related X-Linked Cytopenia

X-Linked Thrombocytopenia With Beta-Thalassemia

Thrombocytopenia Platelet Dysfunction Hemolysis And Imbalanced Globin Synthesis
Multicentric Carpotarsal Osteolysis Syndrome

Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy

MCTO

Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy

Idiopathic Multicentric Osteolysis With Or Without Nephropathy

Autosomal Dominant Multicentric Osteolysis

Hereditary Osteolysis Of Carpal Bones With Or Without Nephropathy

Multicentric Osteolysis, Autosomal Dominant

Multicentric Osteolysis Nephropathy

Osteolysis, Carpotarsal, Multicentric Syndrome

Lytic Lesion
Vascular Disease

Vascular Diseases

Aneurysm

Spinal Cord Ischemia

Vascular Anomaly

Spinal Cord Vascular Diseases

Vascular Tissue Disease
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS08560 MMRN1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta MMRN1 VGNC VGNC:74904
Canis familiaris MMRN1 VGNC VGNC:43291
Rattus norvegicus MMRN1 RGD RGD:1587248
Mus musculus MMRN1 MGD MGI:1918195
Felis catus MMRN1 VGNC VGNC:68293
Bos taurus MMRN1 VGNC VGNC:31532