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FLASH GENE

Symbol

EFEMP1

contributors: mct/npt/shn - updated : 24-07-2010

HGNC name	EGF-containing fibulin-like extracellular matrix protein 1
HGNC id	3218

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DHRD Doyne honeycomb retinal dystrophy
Location	2p16.1      Physical location : 56.093.102 - 56.150.932
Synonym name	fibrillin-like
	fibulin 3
	extracellular protein S1-5
Synonym symbol(s)	FBNL, DHRD, DRAD, MLVT, FBLN3, MTLV, S1-5, FLJ35535, MGC111353, FIBL-3

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem
STRUCTURE	57.83 kb     12 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site   HRE
text structure	proximal promoter within 425 bp upstream of exon 1, regulatory elements include three Sp1-binding sites, a Tat motif (trans-activating) and an estrogen response element (ERE) binding site (trans-repressing)

MAPPING

cloned

Y

linked

N

status

confirmed

Map	pter - D2S2251 - D2S2153 - EFEMP1 - D2S378 - D2S2279 - cen

RNA

TRANSCRIPTS	type	messenger

text	alternative splicing in the 5'UTR region resulting in three transcript variants transcript variants encoding the same product

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004105 (transcript variant 1) 11 splicing 2936 NP_004096 54 493 - Lim (2006) 11 exons tramscript lacking exon 1 containing exon 2a (longer than 2b) encoding for the same product as variants 2 & 3 NM_001039348 (transcript variant 2) 12 splicing 2741 NP_001034437 56 493 - Lim (2006) 12 exons tramscript containing exon 2b (shorter than 2a) encoding for the same product as variants 1 & 3 NM_001039349 (transcript variant 3) 11 splicing 2700 NP_001034438 54 493 - Lim (2006) 11 exons tramscript lacking exon 2 encoding for the same product as variants 1 & 2

EXPRESSION

Type	ubiquitous

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       moderately Digestive intestine small intestine     highly   intestine large intestine colon   highly   liver       lowly Endocrine pancreas       lowly Lymphoid/Immune spleen       highly   thymus       highly Reproductive female system placenta     highly   female system ovary     highly   male system testis     moderately   male system prostate     highly Respiratory lung       highly Urinary kidney       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal   moderately

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic leukocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	tandemly repeated epidermal growth factor-like repeats
	a C-terminus fibulin-type domain

conjugated

GlycoP

isoforms

Precursor

a 1,9 kDA signal peptide

HOMOLOGY

interspecies	homolog to Efemp1, Rattus norvegicus
	ortholog to Efemp1, Mus musculus

Homologene

FAMILY

fibulin family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION

basic FUNCTION	has a role in retinal drusen formation
	involved in etiology of macular degeneration
	involved in Malattia Leventiness
	R345W substitution leading to maculopathy
	upregulated gene in the epiphyseal region, that reduces angiogenic sprouting, inhibits matrix metalloproteinase expression and activity, and stimulates tissue inhibitor of metalloproteinase expression (Shapiro 2009)
	important negative regulator in chondrocyte differentiation, may play an important role as a negative regulator of chondrocyte differentiation (Wakabayashi 2010)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

sensory transduction/vision

a component

constituent of extracellular matrix

INTERACTION

DNA

RNA

small molecule

other,

having calcium ion binding activity

protein

Tissue inhibitor of metalloproteinases-3, TIMP-3 (Klenotic et al, 2004)

cell & other

REGULATION

Other

regulated by estrogen

ASSOCIATED DISORDERS

corresponding disease(s)

DHRD

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   reduced the expression of SOX5 and SOX6, while it maintained the expression of SOX9 (Wakabayashi 2010) tumoral     --over   uniquely upregulated in malignant gliomas and promotes tumor cell motility and invasion (Hu 2009)

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target	could be a potential target against tumor progression in gliomas (Hu 2009)
	promising candidate for assessing prognosis and individualizing therapy in a clinical tumor setting (Seeliger 2009)

ANIMAL & CELL MODELS

	Efemp1(-/-) mice exhibit reduced reproductivity, early onset of aging-associated phenotypes including reduced lifespan, decreased body mass, lordokyphosis, reduced hair growth, and generalized fat, muscle and organ atrophy (McLaughlin et al, 2007)
	Efemp1(-/-) mice on a C57BL/6 genetic background develop multiple large hernias with inguinal hernias, pelvic prolapse and protrusions of the xiphoid process whereas Efemp1(-/-) mice on a BALB/c background rarely have any forms of hernias (McLaughlin et al, 2007)
	Efemp1-R345W knockin mice develop deposits of material between Bruch's membrane and the RPE, which resemble basal deposits in patients with Age-related macular degeneration (Fu et al, 2007)
	heterozygous and homozygous mice Efemp1 knock-in mice (R345W) develop small isolated sub-RPE deposits at 4 months of age (Marmorstein et al, 2007)