EMILIN1

Protein-coding gene in the species Homo sapiens
EMILIN1
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

2KA3, 2OII

Identifiers
AliasesEMILIN1, EMI, EMILIN, gp115, elastin microfibril interfacer 1
External IDsOMIM: 130660; MGI: 1926189; HomoloGene: 5117; GeneCards: EMILIN1; OMA:EMILIN1 - orthologs
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for EMILIN1
Genomic location for EMILIN1
Band2p23.3Start27,078,615 bp[1]
End27,086,403 bp[1]
Gene location (Mouse)
Chromosome 5 (mouse)
Chr.Chromosome 5 (mouse)[2]
Chromosome 5 (mouse)
Genomic location for EMILIN1
Genomic location for EMILIN1
Band5|5 B1Start31,070,746 bp[2]
End31,078,621 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 5: 31.07 – 31.08 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Elastin microfibril interfacer 1 (EMILIN-1) is a protein that in humans is encoded by the EMILIN1 gene.[5] It is the best characterized member of the EMILIN family of extracellular matrix glycoproteins.


References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000138080 – Ensembl, May 2017
  2. ^ a b c 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.
  5. ^ "Entrez Gene: EMILIN1 elastin microfibril interfacer 1".

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.

External links


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