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    SMOC1 SPARC related modular calcium binding 1 [ Homo sapiens (human) ]

    Gene ID: 64093, updated on 2-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Downregulation of SMOC1 is associated with progression of colorectal traditional serrated adenomas.

    Downregulation of SMOC1 is associated with progression of colorectal traditional serrated adenomas.
    Aoki H, Takasawa A, Yamamoto E, Niinuma T, Yamano HO, Harada T, Kubo T, Yorozu A, Kitajima H, Ishiguro K, Kai M, Katanuma A, Shinohara T, Nakase H, Sugai T, Osanai M, Suzuki H., Free PMC Article

    03/14/2024
    SPARC-related modular calcium binding 1 regulates aortic valve calcification by disrupting BMPR-II/p-p38 signalling.

    SPARC-related modular calcium binding 1 regulates aortic valve calcification by disrupting BMPR-II/p-p38 signalling.
    Wang Y, Gu J, Du A, Zhang S, Deng M, Zhao R, Lu Y, Ji Y, Shao Y, Sun W, Kong X., Free PMC Article

    04/9/2022
    SMOC1 and IL-4 and IL-13 Cytokines Interfere with Ca(2+) Mobilization in Primary Human Keratinocytes.

    SMOC1 and IL-4 and IL-13 Cytokines Interfere with Ca(2+) Mobilization in Primary Human Keratinocytes.
    Lyubchenko T, Collins HK, Vang KA, Leung DYM, Goleva E., Free PMC Article

    11/27/2021
    Secreted modular calcium-binding protein 1 binds and activates thrombin to account for platelet hyperreactivity in diabetes.

    Secreted modular calcium-binding protein 1 binds and activates thrombin to account for platelet hyperreactivity in diabetes.
    Delgado Lagos F, Elgheznawy A, Kyselova A, Meyer Zu Heringdorf D, Ratiu C, Randriamboavonjy V, Mann AW, Fisslthaler B, Siragusa M, Fleming I.

    08/28/2021
    Exome sequencing identified two variants in the SMOC1 gene, each inherited from one of the parents: c.709G>T - p.(Glu237*) on exon 8 and c.1223G>A - p.(Cys408Tyr) on exon 11, both predicted to be pathogenic by different bioinformatics software. Brain histopathology showed an abnormal cortical neuronal migration, which could be related to the SMOC1 protein function, given its role in cellular signaling

    A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants.
    Mancini C, Zonta A, Botta G, Breda Klobus A, Valbonesi S, Pasini B, Giorgio E, Viora E, Brusco A, Brussino A.

    02/8/2020
    Missense mutation in exon 3 of SMOC1 segregated with the Waardenburg anophthalmia syndrome in the Iranian family.

    A novel mutation in SMOC1 and variable phenotypic expression in two patients with Waardenburg anophthalmia syndrome.
    Jamshidi J, Abdollahi S, Ghaedi H, Alehabib E, Tafakhori A, Alinaghi S, Chapi M, Johari AH, Darvish H.

    01/13/2018
    This is the first report of Waardenburg anophthalmia syndrome (WAS) caused by a SMOC1 variant in a Pakistani population. The mutation identified in the present investigation extends the body of evidence implicating the gene SMOC-1 in causing WAS.

    A novel homozygous variant in the SMOC1 gene underlying Waardenburg anophthalmia syndrome.
    Ullah A, Umair M, Ahmad F, Muhammad D, Basit S, Ahmad W.

    12/2/2017
    SMOC binds to Pro-EGF, but does not induce Erk phosphorylation via the EGFR.

    SMOC Binds to Pro-EGF, but Does Not Induce Erk Phosphorylation via the EGFR.
    Thomas JT, Chhuy-Hy L, Andrykovich KR, Moos M Jr., Free PMC Article

    03/18/2017
    IL-17A but not IL-22 suppresses the replication of hepatitis B virus by inducing the expression of MxA and OAS.

    IL-17A but not IL-22 suppresses the replication of hepatitis B virus mediated by over-expression of MxA and OAS mRNA in the HepG2.2.15 cell line.
    Wang B, Zhao XP, Fan YC, Zhang JJ, Zhao J, Wang K.

    09/14/2013
    SMOC1 provides a link between prenatal hormone exposure and digit ratio.

    Genetic association suggests that SMOC1 mediates between prenatal sex hormones and digit ratio.
    Lawrance-Owen AJ, Bargary G, Bosten JM, Goodbourn PT, Hogg RE, Mollon JD.

    05/4/2013
    Homozygosity mapping and subsequent targeted mutation analysis of a locus on 14q24.2 identified homozygous mutations in SMOC1 (SPARC-related modular calcium binding 1) in eight unrelated families with Waardenburg Anophthalmia syndrome.

    Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice.
    Rainger J, van Beusekom E, Ramsay JK, McKie L, Al-Gazali L, Pallotta R, Saponari A, Branney P, Fisher M, Morrison H, Bicknell L, Gautier P, Perry P, Sokhi K, Sexton D, Bardakjian TM, Schneider AS, Elcioglu N, Ozkinay F, Koenig R, Mégarbané A, Semerci CN, Khan A, Zafar S, Hennekam R, Sousa SB, Ramos L, Garavelli L, Furga AS, Wischmeijer A, Jackson IJ, Gillessen-Kaesbach G, Brunner HG, Wieczorek D, van Bokhoven H, Fitzpatrick DR., Free PMC Article

    02/25/2012
    The present study thus identified SPARC related modular calcium binding 1 as a new cancer-associated protein capable of interacting with tenascin-C in vitro

    SMOC1 is a tenascin-C interacting protein over-expressed in brain tumors.
    Brellier F, Ruggiero S, Zwolanek D, Martina E, Hess D, Brown-Luedi M, Hartmann U, Koch M, Merlo A, Lino M, Chiquet-Ehrismann R.

    08/27/2011
    Waardenburg anophthalmia syndrome is genetically heterogeneous; a second was locus found on chromosome 14, and mutations in SMOC1 were shown also cause this syndrome.

    Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome.
    Abouzeid H, Boisset G, Favez T, Youssef M, Marzouk I, Shakankiry N, Bayoumi N, Descombes P, Agosti C, Munier FL, Schorderet DF., Free PMC Article

    02/5/2011
    these findings indicate that SMOC1/Smoc1 is essential for ocular and limb development in both humans and mice.

    SMOC1 is essential for ocular and limb development in humans and mice.
    Okada I, Hamanoue H, Terada K, Tohma T, Megarbane A, Chouery E, Abou-Ghoch J, Jalkh N, Cogulu O, Ozkinay F, Horie K, Takeda J, Furuichi T, Ikegawa S, Nishiyama K, Miyatake S, Nishimura A, Mizuguchi T, Niikawa N, Hirahara F, Kaname T, Yoshiura K, Tsurusaki Y, Doi H, Miyake N, Furukawa T, Matsumoto N, Saitsu H., Free PMC Article

    02/5/2011
    Analyzed the secretory protein profiles of BMSCs grown in osteogenic medium (OSM) and identified SPARC-related modular calcium-binding protein 1 (SMOC1), a member of the SPARC family, as a regulator of osteoblast differentiation of BMSCs.

    Secretome analysis of human BMSCs and identification of SMOC1 as an important ECM protein in osteoblast differentiation.
    Choi YA, Lim J, Kim KM, Acharya B, Cho JY, Bae YC, Shin HI, Kim SY, Park EK.

    11/27/2010
    isolation of the novel gene SMOC-1 encoding a secreted modular protein containing an EF-hand calcium-binding domain; localization within basement membranes in kidney and skeletal muscle and expression in the zona pellucida surrounding the oocyte

    Characterization of SMOC-1, a novel modular calcium-binding protein in basement membranes.
    Vannahme C, Smyth N, Miosge N, Gösling S, Frie C, Paulsson M, Maurer P, Hartmann U.

    01/21/2010
    SMOC-1 is of physiological interest because it codes a secreted glycoprotein with five domains, each containing regions homologous to those on other proteins that mediate cell-matrix interactions.

    A whole genome scan for pulse pressure/stroke volume ratio in African Americans: the HyperGEN study.
    Sherva R, Miller MB, Lynch AI, Devereux RB, Rao DC, Oberman A, Hopkins PN, Kitzman DW, Atwood LD, Arnett DK., Free PMC Article

    01/21/2010
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