EMILIN1

EMILIN1
Identifiers
Aliases	EMILIN1, EMI, EMILIN, gp115, elastin microfibril interfacer 1
External IDs	OMIM: 130660; MGI: 1926189; GeneCards: EMILIN1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2KA3, 2OII
Gene location (Human)
Chr.	Chromosome 2 (human)
End	27,086,403 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	31,078,621 bp
RNA expression pattern
	Top expressed in
	right coronary artery; ; body of uterus; ; left uterine tube; ; right ovary; ; muscle layer of sigmoid colon; ; ascending aorta; ; Descending thoracic aorta; ; left ovary; ; left coronary artery; ; stromal cell of endometrium;
	Top expressed in
	glomerulus; ; glomerular basement membrane; ; yolk sac; ; body wall; ; calvaria; ; serosa of urinary bladder; ; granulocyte; ; right kidney; ; embryo; ; molar;
	More reference expression data
	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
Databases	NCBI: entry; OMA: entry
	11117
	100952
	ENSG00000138080
	ENSMUSG00000029163
	Q9Y6C2
	Q99K41
	NM_007046
	NM_133918
	NP_008977
	NP_598679
	Wikidata
View/Edit Human	View/Edit Mouse

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.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000138080 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000029163 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Entrez Gene: EMILIN1 elastin microfibril interfacer 1".

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.

External links

This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000138080 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000029163 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: EMILIN1 elastin microfibril interfacer 1".

EMILIN1

References

Further reading

External links