InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MMRN1

Summary

InnateDB Protein

IDBP-240478.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MMRN1

Protein Name

multimerin 1

Synonyms

ECM; EMILIN4; GPIa*; MMRN;

Species

Homo sapiens

Ensembl Protein

ENSP00000378431

InnateDB Gene

IDBG-30170 (MMRN1)

Protein Structure

UniProt Annotation

Function

Carrier protein for platelet (but not plasma) factor V/Va. Plays a role in the storage and stabilization of factor V in platelets. Upon release following platelet activation, may limit platelet and plasma factor Va-dependent thrombin generation. Ligand for integrin alpha-IIb/beta-3 and integrin alpha-V/beta-3 on activated platelets, and may function as an extracellular matrix or adhesive protein. {ECO:0000269PubMed:16363244, ECO:0000269PubMed:19132231, ECO:0000269PubMed:7629143}.

Subcellular Localization

Secreted {ECO:0000305}.

Disease Associations

Note=Deficiency in multimerin-1 due to proteolytic degradation within the platelet alpha granules is associated with an autosomal dominant bleeding disorder (factor V Quebec). {ECO:0000269PubMed:8652809}.

Tissue Specificity

Synthesized by endothelial cells and megakaryocytes. Stored in platelet alpha granules and endothelial cell Weibel-Palade bodies, following activation of these cells, it is released and attached to megakaryocytes, platelets, endothelium and subendothelium of blood vessels. Not found in plasma. Found in vascular tissues such as placenta, lung, and liver. {ECO:0000269PubMed:7629143, ECO:0000269PubMed:8514871}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005509	calcium ion binding
GO:0005515	protein binding

Biological Process

GO:0002576	platelet degranulation
GO:0007155	cell adhesion
GO:0007596	blood coagulation
GO:0030168	platelet activation

Cellular Component

GO:0005576	extracellular region
GO:0031093	platelet alpha granule lumen

Protein Structure and Domains

PDB ID

InterPro

IPR000742 Epidermal growth factor-like domain
IPR001073 Complement C1q protein
IPR001881 EGF-like calcium-binding domain
IPR008983 Tumour necrosis factor-like domain
IPR011489 EMI domain

PFAM

PF00008
PF00386
PF07645
PF07546

PRINTS

PR00007

PIRSF

SMART

SM00181
SM00110
SM00179

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt