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Gene Review:

Emilin1 - elastin microfibril interfacer 1

Mus musculus

Synonyms: 5830419M17Rik, AW229038, BB105748, EMILIN-1, Elastin microfibril interface-located protein 1, ...

Fabbro, C. et al., Zacchigna, L. et al., Keller, P.M. et al., Braghetta, P. et al., Colombatti, A. et al., et al.

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Disease relevance of Emilin1

Of 10 monoclonal antibodies which can immunoprecipitate intracellular VZV antigens and virion glycoproteins, 1 (termed gA) reacted with gp105, 1 (termed gB) reacted with gp115 (intracellular only), gp62, and gp57, and 8 (termed gC) reacted with gp92, gp83, gp52, and gp45 [1].
Further analysis of the localization of the epitope was obtained by CNBr cleavage and partial digestion of gp 115 with Staphylococcus aureus V8 protease and alpha-chymotrypsin digestion [2].

High impact information on Emilin1

Emilin1 knockout animals display increased blood pressure, increased peripheral vascular resistance, and reduced vessel size [3].
Mechanistically, we found that Emilin1 inhibits TGF-beta signaling by binding specifically to the proTGF-beta precursor and preventing its maturation by furin convertases in the extracellular space [3].
Analysis of regulatory regions of Emilin1 gene and their combinatorial contribution to tissue-specific transcription [4].
The 8.7-kb segment contains the 5'-end of the putative 2310015E02Rik gene and the sequence that separates it from Emilin1, whereas the 0.6-kb fragment covers the region between Emilin1 and Ketohexokinase genes [4].
An emilin family extracellular matrix protein identified in the cochlear basilar membrane [5].

Biological context of Emilin1

The data suggest that EMILIN-1 may have a function in placenta formation and initial organogenesis and a later role in interstitial connective tissue [6].

Anatomical context of Emilin1

EMILIN-1 mRNA is detectable in morula and blastocyst by RT-PCR [6].

Associations of Emilin1 with chemical compounds

It was designated Emu1 since it shares an N-terminal cysteine-rich domain with Emilin1/2 and Multimerin [7].

Analytical, diagnostic and therapeutic context of Emilin1

To gain insight into the function of this gene family, EMILIN-1 has been inactivated in the mouse by gene targeting [8].
In situ hybridization has revealed that the EMILIN/Multimerin genes are particularly expressed in the cardio-vascular system and in mesenchymal cells [9].

References

Three major glycoprotein genes of varicella-zoster virus whose products have neutralization epitopes. Keller, P.M., Neff, B.J., Ellis, R.W. J. Virol. (1984) [Pubmed]
Monoclonal antibodies against chick gp 115, a matrix glycoprotein with broad distribution. Colombatti, A., Bressan, G.M., Volpin, D., Castellani, I. Coll. Relat. Res. (1985) [Pubmed]
Emilin1 links TGF-beta maturation to blood pressure homeostasis. Zacchigna, L., Vecchione, C., Notte, A., Cordenonsi, M., Dupont, S., Maretto, S., Cifelli, G., Ferrari, A., Maffei, A., Fabbro, C., Braghetta, P., Marino, G., Selvetella, G., Aretini, A., Colonnese, C., Bettarini, U., Russo, G., Soligo, S., Adorno, M., Bonaldo, P., Volpin, D., Piccolo, S., Lembo, G., Bressan, G.M. Cell (2006) [Pubmed]
Analysis of regulatory regions of Emilin1 gene and their combinatorial contribution to tissue-specific transcription. Fabbro, C., de Gemmis, P., Braghetta, P., Colombatti, A., Volpin, D., Bonaldo, P., Bressan, G.M. J. Biol. Chem. (2005) [Pubmed]
An emilin family extracellular matrix protein identified in the cochlear basilar membrane. Amma, L.L., Goodyear, R., Faris, J.S., Jones, I., Ng, L., Richardson, G., Forrest, D. Mol. Cell. Neurosci. (2003) [Pubmed]
Expression of the EMILIN-1 gene during mouse development. Braghetta, P., Ferrari, A., de Gemmis, P., Zanetti, M., Volpin, D., Bonaldo, P., Bressan, G.M. Matrix Biol. (2002) [Pubmed]
Developmental expression and biochemical characterization of Emu family members. Leimeister, C., Steidl, C., Schumacher, N., Erhard, S., Gessler, M. Dev. Biol. (2002) [Pubmed]
EMILIN-1 deficiency induces elastogenesis and vascular cell defects. Zanetti, M., Braghetta, P., Sabatelli, P., Mura, I., Doliana, R., Colombatti, A., Volpin, D., Bonaldo, P., Bressan, G.M. Mol. Cell. Biol. (2004) [Pubmed]
Overlapping, complementary and site-specific expression pattern of genes of the EMILIN/Multimerin family. Braghetta, P., Ferrari, A., De Gemmis, P., Zanetti, M., Volpin, D., Bonaldo, P., Bressan, G.M. Matrix Biol. (2004) [Pubmed]

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