Gene Symbol: SMOC1
Description: SPARC related modular calcium binding 1
Alias: OAS, SPARC-related modular calcium-binding protein 1, secreted modular calcium-binding protein 1
- Characterization of SMOC-1, a novel modular calcium-binding protein in basement membranesChristian Vannahme
Institute for Biochemistry, Medical Faculty, University of Cologne, Joseph Stelzmann Strasse 52, D 50931 Cologne, Germany
J Biol Chem 277:37977-86. 2002..Immunogold electron microscopy confirmed the localization of SMOC-1 within basement membranes in kidney and skeletal muscle as well as its expression in the zona pellucida surrounding the oocyte...
- Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndromeHana Abouzeid
IRO Institute for Research in Ophthalmology, 1950 Sion, Switzerland Jules Gonin Eye Hospital, University of Lausanne, 1003 Lausanne
Am J Hum Genet 88:92-8. 2011..23 locus, whose two affected children have a homozygous mutation in SMOC1. Knockdown experiments of the zebrafish smoc1 revealed that smoc1 is important in eye development and that it is ..
- SMOC1 is essential for ocular and limb development in humans and miceIppei Okada
Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3 9 Fukuura, Kanazawa Ku, Yokohama 236 0004, Japan
Am J Hum Genet 88:30-41. 2011..site) mutations in the SPARC (secreted protein acidic and rich in cysteine)-related modular calcium binding 1 (SMOC1) in three families...
- A novel homozygous variant in the SMOC1 gene underlying Waardenburg anophthalmia syndromeAsmat Ullah
a Department of Biochemistry, Faculty of Biological Sciences, Quaid i Azam University, Islamabad, Pakistan
Ophthalmic Genet . 2017..Clinical features of the syndrome include malformation of the eyes and the skeleton. Mostly, WAS is caused by mutations in the SMOC-1 gene...
- Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and miceJoe Rainger
Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, UK
PLoS Genet 7:e1002114. 2011..2 identified homozygous mutations in SMOC1 (SPARC-related modular calcium binding 1) in eight unrelated families...
- Genome-wide association study of ancestry-specific TB risk in the South African Coloured populationEmile R Chimusa
Department of Clinical Laboratory Sciences, Institute of Infectious Disease and Molecular Medicine, University of Cape Town, Cape Town, South Africa
Hum Mol Genet 23:796-809. 2014..This study provides insights into identifying disease genes and ancestry-specific disease risk in multi-way admixed populations. ..
- Multistage genome-wide association meta-analyses identified two new loci for bone mineral densityLei Zhang
Center of System Biomedical Sciences, University of Shanghai for Science and Technology, Shanghai, China
Hum Mol Genet 23:1923-33. 2014..0 × 10(-8)) level: 14q24.2 (rs227425, P-value 3.98 × 10(-13), SMOC1) in the combined sample of males and females and 21q22.13 (rs170183, P-value 4...
- Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disabilityBarbara Oehl-Jaschkowitz
Practice of Human Genetics, Homburg Saar, Germany
Am J Med Genet A 164:620-6. 2014..interval (ACTN1, DCAF5, EXD2, GALNTL1, ERH, SLC39A9, PLEKHD1, CCDC177, KIAA0247, LOC100289511, SRSF5, SLC10A1, SMOC1, SLC8A3, ADAM21P1, COX16, SYNJ2BP, SYNJ2BP-COX16, ADAM21) was responsible for these manifestations, but apart from ..
- Role of secreted modular calcium-binding protein 1 (SMOC1) in transforming growth factor β signalling and angiogenesisKhader Awwad
Institute for Vascular Signalling, Centre for Molecular Medicine, Goethe University, Theodor Stern Kai 7, 60596 Frankfurt am Main, Germany
Cardiovasc Res 106:284-94. 2015Secreted modular calcium-binding protein 1 (SMOC1) is a matricellular protein that potentially interferes with growth factor receptor signalling...
- SMOC Binds to Pro-EGF, but Does Not Induce Erk Phosphorylation via the EGFRJ Terrig Thomas
FDA Center for Biologics Evaluation and Research, Division of Cellular and Gene Therapies Office of Cellular, Tissue, and Gene Therapies, Silver Spring, MD, United States of America
PLoS ONE 11:e0154294. 2016..SMOC does not appear to potentiate or inhibit MAPK signaling in response to pro-EGF, but the interaction could provide a mechanism for retaining soluble pro-EGF at the cell surface. ..
- Genomic Integration of High-Risk HPV Alters Gene Expression in Oropharyngeal Squamous Cell CarcinomaHeather M Walline
Cancer Biology Program, Program in the Biomedical Sciences, Rackham Graduate School, University of Michigan, Ann Arbor, Michigan Department of Otolaryngology Head and Neck Surgery, University of Michigan, Ann Arbor, Michigan
Mol Cancer Res 14:941-952. 2016..complex HPV integration patterns into cancer-associated genes, including TNFRSF13B, SCN2A, SH2B1, UBE2V2, SMOC1, NFIA, and SEMA6D Disrupted cellular transcripts were identified in the region of integration in four of the seven ..
- Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomaliesYukiko Kondo
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa Ku, Yokohama, Japan
Am J Med Genet A 161:1543-6. 2013..Recently, we and others successfully identified SMOC1 as the causative gene for MLA...
- Mutations in ALDH1A3 cause microphthalmiaM A Aldahmesh
Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
Clin Genet 84:128-31. 2013..the other branch of the original family was found to segregate anophthalmia/syndactyly with a novel homozygous SMOC1 variant...
- A genome-wide SNP scan reveals two loci associated with the chicken resistance to Marek's diseaseD F Li
National Engineering Laboratory for Animal Breeding and MOA Key Laboratory of Animal Genetics and Breeding, College of Animal Science and Technology, China Agricultural University, Beijing, China
Anim Genet 44:217-22. 2013..01) was located in the SPARC-related modular calcium-binding 1 (SMOC1) gene on GGA5. The other one, GGaluGA156129, reaching genome-wide significance (P < 0...
- Genetic association suggests that SMOC1 mediates between prenatal sex hormones and digit ratioAdam J Lawrance-Owen
Department of Experimental Psychology, University of Cambridge, Downing Street, Cambridge CB2 3EB, UK
Hum Genet 132:415-21. 2013..study of 979 healthy adults, we find that digit ratio is strongly associated with variation upstream of SMOC1 (rs4902759: P = 1.41 × 10(-8)) and a meta-analysis of this and an independent study shows a probability of P = 1...
- 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 lineBing Wang
Department of Hepatology, Qilu Hospital of Shandong University, Wenhuaxi Road 107, Jinan 250012, China
Antiviral Res 97:285-92. 2013..The expression of antiviral proteins, including myxovirus resistance A (MxA) and oligoadenylate synthetase (OAS), was enhanced by IL-17A. IL-22 and anti-human IL-22 receptor (IL-22R) antibody did not change any indexes...
- The heparin-binding activity of secreted modular calcium-binding protein 1 (SMOC-1) modulates its cell adhesion propertiesMarina Klemenčič
Department of Chemistry and Biochemistry, Faculty of Chemistry and Chemical Technology, University of Ljubljana, Ljubljana, Slovenia
PLoS ONE 8:e56839. 2013....
- Eye development genes and known syndromesAnne M Slavotinek
Department of Pediatrics, Division of Genetics, University of California, San Francisco, San Francisco, CA 94143 0748, USA
Mol Genet Metab 104:448-56. 2011..abnormalities, polysyndactyly caused by BMP4 mutations and Waardenburg anophthalmia caused by mutations in SMOC1. In addition, we briefly discuss the ocular and extraocular phenotypes associated with several other important eye ..
- SMOC1 is a tenascin-C interacting protein over-expressed in brain tumorsFlorence Brellier
Friedrich Miescher Institute for Biomedical Research, Novartis Research Foundation, Basel, Switzerland
Matrix Biol 30:225-33. 2011..revealed phosphoglycerate kinase 1, clusterin, fibronectin, SPARC-related modular calcium-binding protein 1 (SMOC1) and nidogen-2 as potential interactors of tenascin-C...
- Secretome analysis of human BMSCs and identification of SMOC1 as an important ECM protein in osteoblast differentiationYoung Ae Choi
Department of Oral Pathology, School of Dentistry, BK21, IHBR, Kyungpook National University, Daegu, Korea
J Proteome Res 9:2946-56. 2010..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...
- Rapid interactome profiling by massive sequencingRoberto Di Niro
Department of Life Sciences, University of Trieste, Trieste, Italy
Nucleic Acids Res 38:e110. 2010..Within the identified clones, three had been previously described as interacting proteins (fibronectin, SMOC1 and GSTO2), while all the others were new...
- Developmental expression of Smoc1 and Smoc2 suggests potential roles in fetal gonad and reproductive tract differentiationDorothy E Pazin
Genetics Program, Department of Medicine, and Graduate Program in Genetics and Genomics, Boston University School of Medicine, Boston, Massachusetts 02118, USA
Dev Dyn 238:2877-90. 2009b>SMOC1 and SMOC2 are matricellular proteins thought to influence growth factor signaling, migration, proliferation, and angiogenesis...
- Nitric oxide inhibits glomerular TGF-beta signaling via SMOC-1Ellen Dreieicher
Pharmazentrum frankfurt ZAFES, Klinikum der Johann Wolfgang Goethe Universitat, Frankfurt am Main, Germany
J Am Soc Nephrol 20:1963-74. 2009..In summary, these data suggest that NO attenuates SMOC-1 expression in acute glomerular inflammation, thereby limiting TGF-beta-mediated profibrotic signaling...
- Characterization of Smoc-1 uncovers two transcript variants showing differential tissue and age specific expression in Bubalus bubalisJyoti Srivastava
Molecular Genetics Laboratory, National Institute of Immunology, Aruna Asaf Ali Marg, New Delhi 110 067, India
BMC Genomics 8:436. 2007..The main objective of this study was to gain an insight into its structural and functional organization, and expressional status of Smoc-1 in water buffalo, Bubalus bubalis...
- A whole genome scan for pulse pressure/stroke volume ratio in African Americans: the HyperGEN studyRichard Sherva
University of Minnesota, Minneapolis, Minnesota, USA
Am J Hypertens 20:398-402. 2007..Linkage analysis has identified genomic regions that likely harbor genes contributing to its phenotypic expression. We sought to identify loci contributing to arterial stiffness in a large group of African-American hypertensive families...
- Secreted modular calcium-binding protein-1 localization during mouse embryogenesisNikolaus Gersdorff
Department of Prosthodontics, Georg August Universitat Gottingen, 37075 Gottingen, Germany
Histochem Cell Biol 126:705-12. 2006..This broad and organ-specific distribution suggests multifunctional roles of SMOC-1 during mouse embryogenesis...
- Identification of astrocytoma associated genes including cell surface markersKathy Boon
Department of Neurosurgery, Mason F, Lord Bldg, Center Tower, 5th Floor, 5200 Eastern Avenue, Baltimore MD 21224, USA
BMC Cancer 4:39. 2004..SAGE tag counts can be easily added to public expression databases and quickly disseminated to research efforts worldwide...
- Genetic analysis of congenital diaphragmatic herniaAnne Slavotinek; Fiscal Year: 2006..abstract_text> ..