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FLASH GENE

Symbol

EMILIN3

contributors: mct - updated : 28-11-2017

HGNC name	elastin microfibril interfacer 3
HGNC id	16123

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	6.89 kb     4 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_052846 4 - 3827 NP_443078 - 766 - 2004 14706625

EXPRESSION

Type

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 Digestive esophagus         Homo sapiens Fetal

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	perichondrium cells of developing limbs

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a characteristic N-terminal cysteine-rich EMI domain , spanning &
	8764;80 amino acids and characterized by the presence of highly conserved cysteine residues located at regular positions
	lacking the gC1q domain in its C-terminal region

HOMOLOGY

Homologene

FAMILY

(EMILIN)/Multimerin family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm

basic FUNCTION	playing a significant role in the process of osteogenesis and in skeletal development
	might play important roles in carcinogenesis of esophageal cancer
	may potentially participate in the modulation in the extracellular space of the availability and distribution of other secreted factors known to be regulated by heparan sulfate proteoglycans
	EMILIN3 modulates the availability of HH ligands by interacting with the permissive factor SCUBE2 in the notochord sheath
	EMILIN1, EMILIN2, and EMILIN3 are microfibril-associated glycoproteins known to modulate cell behaviour, growth factor activity, and ECM assembly
	role of EMILINs in dentinogenesis, pulp biology, and inflammation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

forms disulfide-bonded homotrimers and higher order oligomers

INTERACTION

DNA

RNA

small molecule

protein

binds heparin with high affinity and that this binding is mediated by the EMI domain (

cell & other

REGULATION

ASSOCIATED DISORDERS

ANIMAL & CELL MODELS