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FLASH GENE

Symbol

MMRN1

contributors: mct/npt - updated : 16-05-2009

HGNC name	multimerin 1
HGNC id	7178

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	4q22.1      Physical location : 90.816.051 - 90.875.778
Synonym name	glycoprotein Ia
	endothelial cell multimerin
	elastin microfibril interface located protein 4
	elastin microfibril interfacer 4
Synonym symbol(s)	ECM, MMRN, EMILIN4, GPIa*

DNA

TYPE	functioning gene
STRUCTURE	59.73 kb     8 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D4S1534 - D4S1563 - SNCA - MMRN1 - D4S1557 - qter
Authors	Gene Map (98)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed MMRN1 8 - 4973 138 1228 - Leimeister (2002)

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Digestive intestine small intestine     highly   liver         Respiratory lung           respiratory tract trachea     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Connective adipose     highly

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic megakaryocyte Blood/Hematopoietic platelet Cardiovascular endothelial cell

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES		globular
STRUCTURE

motifs/domains	RGDS coiled coil domain
	EGF-like domain
	C1 and C2 domains (extended MMRN1 binding site in the C1 and C2 domains is important for the storage of FV-MMRN1 complexes in platelets)(Jeimy 2008)
	a C terminus similar to the globular domain of C1q, COLVIII, X, also containing 23 N-glycosylation sites

conjugated

GlycoP , Other

mono polymer

heteromer , trimer

HOMOLOGY

Homologene

FAMILY

CATEGORY

adhesion

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic,granule
text	Weibel-Palade bodies of endothelial cells ; alpha-granules

basic FUNCTION	binds factor V in platelets, playing a role in delivering and localizing factor V onto platelets prior to prothrombinase assembly
	released following activation and binding to endothelial cells and the extracellular matrix
	polymeric, factor V (FV) binding protein that is stored in platelet and endothelial cell secretion granules but is undetectable in normal plasma (Jeimy 2008)

CELLULAR PROCESS

cell organization/biogenesis

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	large soluble protein forming homotrimers and larger heteropolymers
	EMILIN / multimerin / EMILIN2

INTERACTION

DNA

RNA

small molecule

protein	factor V (interact with the factor V light chain)
	high affinity binding of FV to MMRN1 may facilitate the costorage of the two proteins in platelet alpha-granules (MMRN1 release during platelet activation may limit platelet dependent thrombin generation) (Jeimy 2008)

cell & other

REGULATION

ASSOCIATED DISORDERS

ANIMAL & CELL MODELS