EMILIN1

EMILIN1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2KA3, 2OII
Identifiers
Aliases	EMILIN1, EMI, EMILIN, gp115, elastin microfibril interfacer 1
External IDs	OMIM: 130660 MGI: 1926189 HomoloGene: 5117 GeneCards: EMILIN1
Gene location (Human) Chr. Chromosome 2 (human) Band 2p23.3 Start 27,078,615 bp End 27,086,403 bp
Gene location (Mouse) Chr. Chromosome 5 (mouse) Band 5|5 B1 Start 31,070,746 bp End 31,078,621 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right coronary artery left uterine tube ascending aorta left coronary artery stromal cell of endometrium canal of the cervix popliteal artery gastric mucosa upper lobe of left lung myometrium Top expressed in glomerulus glomerular basement membrane yolk sac calvaria serosa of urinary bladder molar placenta lamina propria of urinary bladder lip islet of Langerhans More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding extracellular matrix constituent conferring elasticity identical protein binding integrin binding involved in cell-matrix adhesion extracellular matrix structural constituent Cellular component collagen extracellular region extracellular exosome extracellular space extracellular matrix integrin alpha4-beta1 complex EMILIN complex collagen-containing extracellular matrix Biological process cell adhesion cell-matrix adhesion cell migration protein homotrimerization aortic valve morphogenesis positive regulation of gene expression negative regulation of gene expression positive regulation of cell-substrate adhesion negative regulation of angiogenesis extracellular matrix organization negative regulation of transforming growth factor beta receptor signaling pathway negative regulation of vascular endothelial growth factor receptor signaling pathway negative regulation of collagen biosynthetic process elastic fiber assembly negative regulation of cell activation negative regulation of pathway-restricted SMAD protein phosphorylation negative regulation of ERK1 and ERK2 cascade positive regulation of extracellular matrix assembly negative regulation of collagen fibril organization negative regulation of macrophage migration Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 11117 100952 Ensembl ENSG00000138080 ENSMUSG00000029163 UniProt Q9Y6C2 Q99K41 RefSeq (mRNA) NM_007046 NM_133918 RefSeq (protein) NP_008977 NP_598679 Location (UCSC) Chr 2: 27.08 – 27.09 Mb Chr 5: 31.07 – 31.08 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

For other uses, see Emilin.

Elastin microfibril interfacer 1 (EMILIN-1) is a protein that in humans is encoded by the EMILIN1 gene. It is the best characterized member of the EMILIN family of extracellular matrix glycoproteins.

Further reading

• Doliana R, Mongiat M, Bucciotti F, Giacomello E, Deutzmann R, Volpin D, Bressan GM, Colombatti A (1999). "EMILIN, a component of the elastic fiber and a new member of the C1q/tumor necrosis factor superfamily of proteins". J. Biol. Chem. 274 (24): 16773–81. doi:10.1074/jbc.274.24.16773. hdl:11365/443350. PMID 10358019.
• Doliana R, Canton A, Bucciotti F, Mongiat M, Bonaldo P, Colombatti A (2000). "Structure, chromosomal localization, and promoter analysis of the human elastin microfibril interfase located proteIN (EMILIN) gene". J. Biol. Chem. 275 (2): 785–92. doi:10.1074/jbc.275.2.785. PMID 10625608.
• Mongiat M, Mungiguerra G, Bot S, Mucignat MT, Giacomello E, Doliana R, Colombatti A (2000). "Self-assembly and supramolecular organization of EMILIN". J. Biol. Chem. 275 (33): 25471–80. doi:10.1074/jbc.M001426200. PMID 10821830.
• Sterzel RB, Hartner A, Schlötzer-Schrehardt U, Voit S, Hausknecht B, Doliana R, Colombatti A, Gibson MA, Braghetta P (2000). "Elastic fiber proteins in the glomerular mesangium in vivo and in cell culture". Kidney Int. 58 (4): 1588–602. doi:10.1046/j.1523-1755.2000.00320.x. PMID 11012893.
• Doliana R, Bot S, Mungiguerra G, Canton A, Cilli SP, Colombatti A (2001). "Isolation and characterization of EMILIN-2, a new component of the growing EMILINs family and a member of the EMI domain-containing superfamily". J. Biol. Chem. 276 (15): 12003–11. doi:10.1074/jbc.M011591200. PMID 11278945.
• Spessotto P, Cervi M, Mucignat MT, Mungiguerra G, Sartoretto I, Doliana R, Colombatti A (2003). "beta 1 Integrin-dependent cell adhesion to EMILIN-1 is mediated by the gC1q domain". J. Biol. Chem. 278 (8): 6160–7. doi:10.1074/jbc.M208322200. PMID 12456677.
• Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, Wagner L, Shenmen CM, Schuler GD (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Verdone G, Colebrooke SA, Boyd J, Viglino P, Corazza A, Doliana R, Mungiguerra G, Colombatti A, Esposito G (2004). "Sequence-specific backbone NMR assignments for the C-terminal globular domain of EMILIN-1". J. Biomol. NMR. 29 (1): 91–2. doi:10.1023/B:JNMR.0000019460.94913.6a. PMID 15017143. S2CID 38779069.
• Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Wang L, Zhu YF, Guo XJ, Huo R, Ma X, Lin M, Zhou ZM, Sha JH (2006). "A two-dimensional electrophoresis reference map of human ovary". J. Mol. Med. 83 (10): 812–21. doi:10.1007/s00109-005-0676-y. PMID 16021519. S2CID 6644433.
• Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
• Lewandrowski U, Moebius J, Walter U, Sickmann A (2006). "Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach". Mol. Cell. Proteomics. 5 (2): 226–33. doi:10.1074/mcp.M500324-MCP200. PMID 16263699. S2CID 7856143.
• Otsuki T, Ota T, Nishikawa T, Hayashi K, Suzuki Y, Yamamoto J, Wakamatsu A, Kimura K, Sakamoto K (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Res. 12 (2): 117–26. doi:10.1093/dnares/12.2.117. PMID 16303743.