U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    EMILIN1 elastin microfibril interfacer 1 [ Homo sapiens (human) ]

    Gene ID: 11117, updated on 27-Aug-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Cancer-associated fibroblast spatial heterogeneity and EMILIN1 expression in the tumor microenvironment modulate TGF-beta activity and CD8[+] T-cell infiltration in breast cancer.

    Cancer-associated fibroblast spatial heterogeneity and EMILIN1 expression in the tumor microenvironment modulate TGF-β activity and CD8(+) T-cell infiltration in breast cancer.
    Honda CK, Kurozumi S, Fujii T, Pourquier D, Khellaf L, Boissiere F, Horiguchi J, Oyama T, Shirabe K, Colinge J, Yokobori T, Turtoi A., Free PMC Article

    03/22/2024
    Integrated machine learning-driven disulfidptosis profiling: CYFIP1 and EMILIN1 as therapeutic nodes in neuroblastoma.

    Integrated machine learning-driven disulfidptosis profiling: CYFIP1 and EMILIN1 as therapeutic nodes in neuroblastoma.
    Mengzhen Z, Xinwei H, Zeheng T, Nan L, Yang Y, Huirong Y, Kaisi F, Xiaoting D, Liucheng Y, Kai W., Free PMC Article

    03/5/2024
    The role of EMILIN-1 in the osteo/odontogenic differentiation of dental pulp stem cells.

    The role of EMILIN-1 in the osteo/odontogenic differentiation of dental pulp stem cells.
    Deng P, Huang J, Zhang Q, Li Y, Li J., Free PMC Article

    04/10/2023
    EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.

    EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.
    Adamo CS, Beyens A, Schiavinato A, Keene DR, Tufa SF, Mörgelin M, Brinckmann J, Sasaki T, Niehoff A, Dreiner M, Pottie L, Muiño-Mosquera L, Gulec EY, Gezdirici A, Braghetta P, Bonaldo P, Wagener R, Paulsson M, Bornaun H, De Rycke R, De Bruyne M, Baeke F, Devine WP, Gangaram B, Tam A, Balasubramanian M, Ellard S, Moore S, Symoens S, Shen J, Cole S, Schwarze U, Holmes KW, Hayflick SJ, Wiszniewski W, Nampoothiri S, Davis EC, Sakai LY, Sengle G, Callewaert B., Free PMC Article

    12/10/2022
    EMILIN-1 deficiency promotes chronic inflammatory disease through TGFbeta signaling alteration and impairment of the gC1q/alpha4beta1 integrin interaction.

    EMILIN-1 deficiency promotes chronic inflammatory disease through TGFβ signaling alteration and impairment of the gC1q/α4β1 integrin interaction.
    Pivetta E, Capuano A, Vescovo M, Scanziani E, Cappelleri A, Rampioni Vinciguerra GL, Vecchione A, Doliana R, Mongiat M, Spessotto P.

    09/17/2022
    Elastin MIcrofibriL INterfacer1 (EMILIN-1) is an alternative prosurvival VLA-4 ligand in chronic lymphocytic leukemia.

    Elastin MIcrofibriL INterfacer1 (EMILIN-1) is an alternative prosurvival VLA-4 ligand in chronic lymphocytic leukemia.
    Tissino E, Pivetta E, Capuano A, Capasso G, Bomben R, Caldana C, Rossi FM, Pozzo F, Benedetti D, Boldorini R, Gaidano G, Rossi D, Zamò A, Hartmann TN, Doliana R, Colombatti A, Gattei V, Spessotto P, Zucchetto A.

    04/16/2022
    Data provide evidence that the novel "regulatory structural" role of EMILIN-1 in the lymphangiogenic process is played by the integrin binding site within its gC1q domain.

    Integrin binding site within the gC1q domain orchestrates EMILIN-1-induced lymphangiogenesis.
    Capuano A, Pivetta E, Baldissera F, Bosisio G, Wassermann B, Bucciotti F, Colombatti A, Sabatelli P, Doliana R, Spessotto P.

    05/16/2020
    EMILIN1 induces anti-tumor effects by up-regulating TSPAN9 expression in gastric cancer. Hence, membrane proteins TSPAN9 and EMILIN1 may represent novel therapeutic targets for the treatment of gastric cancer.

    TSPAN9 and EMILIN1 synergistically inhibit the migration and invasion of gastric cancer cells by increasing TSPAN9 expression.
    Qi Y, Lv J, Liu S, Sun L, Wang Y, Li H, Qi W, Qiu W., Free PMC Article

    12/7/2019
    Report reduced EMILIN-1 and enhanced myogenic tone, dependent on increased TGF-beta-EGFR signaling, in resistance arteries from hypertensive patients.

    Loss of EMILIN-1 Enhances Arteriolar Myogenic Tone Through TGF-β (Transforming Growth Factor-β)-Dependent Transactivation of EGFR (Epidermal Growth Factor Receptor) and Is Relevant for Hypertension in Mice and Humans.
    Carnevale D, Facchinello N, Iodice D, Bizzotto D, Perrotta M, De Stefani D, Pallante F, Carnevale L, Ricciardi F, Cifelli G, Da Ros F, Casaburo M, Fardella S, Bonaldo P, Innocenzi G, Rizzuto R, Braghetta P, Lembo G, Bressan GM.

    08/10/2019
    Study discloses a novel mechanism of interaction occurring between the trimeric gC1q domain of EMILIN1 and the alpha4beta1 integrin and determines that the three E933 residues (one from each monomer) are all required for ligand binding. Furthermore, R904 was identified as a synergistic residue for cell adhesion.

    The α4β1/EMILIN1 interaction discloses a novel and unique integrin-ligand type of engagement.
    Capuano A, Fogolari F, Bucciotti F, Spessotto P, Nicolosi PA, Mucignat MT, Cervi M, Esposito G, Colombatti A, Doliana R.

    12/22/2018
    This study is the first to identify EMILIN-1 and ILK as prospective markers of islet regenerative function in human mesenchymal stem cells.

    Brief Report: Elastin Microfibril Interface 1 and Integrin-Linked Protein Kinase Are Novel Markers of Islet Regenerative Function in Human Multipotent Mesenchymal Stromal Cells.
    Lavoie JR, Creskey MM, Muradia G, Bell GI, Sherman SE, Gao J, Stewart DJ, Cyr TD, Hess DA, Rosu-Myles M.

    12/16/2017
    These findings collectively suggest that EMILIN1 may represent a new disease gene associated with an autosomal-dominant connective tissue disorder.

    Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue Disease.
    Capuano A, Bucciotti F, Farwell KD, Tippin Davis B, Mroske C, Hulick PJ, Weissman SM, Gao Q, Spessotto P, Colombatti A, Doliana R., Free PMC Article

    10/22/2016
    Data suggested mechanisms for homo- and hetero-typic EMILINs multimers formation: EMILIN1 or EMILIN2 alone can form trimers and multimers in the absence of each other or they can co-polymerize in a head-to-tail fashion to form hetero-typic multimers.

    Multiple-interactions among EMILIN1 and EMILIN2 N- and C-terminal domains.
    Bot S, Andreuzzi E, Capuano A, Schiavinato A, Colombatti A, Doliana R.

    10/10/2015
    The present findings highlight the peculiar activity of PMN elastase in disabling EMILIN1 suppressor function.

    Neutrophil elastase-dependent cleavage compromises the tumor suppressor role of EMILIN1.
    Pivetta E, Danussi C, Wassermann B, Modica TM, Del Bel Belluz L, Canzonieri V, Colombatti A, Spessotto P.

    01/3/2015
    All three SNPs in introns 1 and 5 (rs2289360, rs2011616 and rs7424556) of EMILIN1 were in strong pair-wise linkage disequilibrium and were significantly associated with hypertension.

    Association of intronic single-nucleotide polymorphisms in the EMILIN1 gene with essential hypertension in a Chinese population.
    Oh VM, Chua BM, Heng CK, Yeo SB, Yim OS, Yap EP.

    01/26/2013
    Emilin-1 produced by vascular smooth muscle cells acts as a main regulator of resting blood pressure levels by controlling the myogenic response in resistance arteries through TGF-beta.

    Vascular smooth muscle Emilin-1 is a regulator of arteriolar myogenic response and blood pressure.
    Litteri G, Carnevale D, D'Urso A, Cifelli G, Braghetta P, Damato A, Bizzotto D, Landolfi A, Ros FD, Sabatelli P, Facchinello N, Maffei A, Volpin D, Colombatti A, Bressan GM, Lembo G.

    11/3/2012
    There were significant associations of rs2011616 and rs2304682 polymorphisms in the EMILIN1 gene with hypertension among Japanese.

    Pooled analyses of the associations of polymorphisms in the GRK4 and EMILIN1 genes with hypertension risk.
    Liu C, Xi B., Free PMC Article

    09/22/2012
    EMILIN-1 may regulate the formation of oxytalan fibers and play a role in their homeostasis.

    EMILIN-1 regulates the amount of oxytalan fiber formation in periodontal ligaments in vitro.
    Nakatomi Y, Tsuruga E, Nakashima K, Sawa Y, Ishikawa H.

    07/23/2011
    rs2289360, rs2011616, and rs2304682 in the human EMILIN1 gene, as well as the haplotype constructed using rs2536512, rs2011616, and rs17881426, are useful genetic markers of essential hypertension in Japanese men.

    Association study of the elastin microfibril interfacer 1 (EMILIN1) gene in essential hypertension.
    Shimodaira M, Nakayama T, Sato N, Naganuma T, Yamaguchi M, Aoi N, Sato M, Izumi Y, Soma M, Matsumoto K, Shimodaira M, Nakayama T, Sato N, Naganuma T, Yamaguchi M, Aoi N, Sato M, Izumi Y, Soma M, Matsumoto K.

    07/26/2010
    Our findings don't support positive association of Emilin1 gene with EH, but the interaction of age and genotype variation of rs3754734 and rs2011616 might increase the risk to hypertension

    Emilin1 gene and essential hypertension: a two-stage association study in northern Han Chinese population.
    Shen C, Lu X, Li Y, Zhao Q, Liu X, Hou L, Wang L, Chen S, Huang J, Gu D, Shen C, Lu X, Li Y, Zhao Q, Liu X, Hou L, Wang L, Chen S, Huang J, Gu D., Free PMC Articles: PMC2785781, PMC2785781

    01/21/2010
    EMILIN1 gC1q-alpha4beta1 represents a unique ligand/receptor system, with a requirement for a 3-fold arrangement of the interaction site.

    The solution structure of EMILIN1 globular C1q domain reveals a disordered insertion necessary for interaction with the alpha4beta1 integrin.
    Verdone G, Doliana R, Corazza A, Colebrooke SA, Spessotto P, Bot S, Bucciotti F, Capuano A, Silvestri A, Viglino P, Campbell ID, Colombatti A, Esposito G.

    01/21/2010
    EMILIN1 is a novel local regulator of lymphangiogenesis

    Emilin1 deficiency causes structural and functional defects of lymphatic vasculature.
    Danussi C, Spessotto P, Petrucco A, Wassermann B, Sabatelli P, Montesi M, Doliana R, Bressan GM, Colombatti A., Free PMC Article

    01/21/2010
    Observational study of gene-disease association. (HuGE Navigator)See all PubMed (3) articles

    Association study of the elastin microfibril interfacer 1 (EMILIN1) gene in essential hypertension.
    Shimodaira M, Nakayama T, Sato N, Naganuma T, Yamaguchi M, Aoi N, Sato M, Izumi Y, Soma M, Matsumoto K, Shimodaira M, Nakayama T, Sato N, Naganuma T, Yamaguchi M, Aoi N, Sato M, Izumi Y, Soma M, Matsumoto K.

    Emilin1 gene and essential hypertension: a two-stage association study in northern Han Chinese population.
    Shen C, Lu X, Li Y, Zhao Q, Liu X, Hou L, Wang L, Chen S, Huang J, Gu D, Shen C, Lu X, Li Y, Zhao Q, Liu X, Hou L, Wang L, Chen S, Huang J, Gu D.

    Candidate gene analysis in primary lymphedema.
    Ferrell RE, Kimak MA, Lawrence EC, Finegold DN.

    07/2/2008
    EMILIN1 interacts with anthrax protective antigen and inhibits toxin action in vitro. EMILIN1 may be a potential target and/or a protein useful for countermeasures against B. anthracis toxin lethality.

    EMILINs interact with anthrax protective antigen and inhibit toxin action in vitro.
    Doliana R, Veljkovic V, Prljic J, Veljkovic N, De Lorenzo E, Mongiat M, Ligresti G, Marastoni S, Colombatti A.

    01/21/2010
    beta1 Integrin-dependent cell adhesion to this protein is mediated by its gC1q domain

    beta 1 Integrin-dependent cell adhesion to EMILIN-1 is mediated by the gC1q domain.
    Spessotto P, Cervi M, Mucignat MT, Mungiguerra G, Sartoretto I, Doliana R, Colombatti A.

    01/21/2010
    firstprevious page of 2 nextlast