SMOC1

Summary

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
Species: human

Top Publications

  1. ncbi Characterization of SMOC-1, a novel modular calcium-binding protein in basement membranes
    Christian Vannahme
    Institute for Biochemistry, Medical Faculty, University of Cologne, Joseph Stelzmann Strasse 52, D 50931 Cologne, Germany
    J Biol Chem 277:37977-86. 2002
  2. pmc Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome
    Hana 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
  3. pmc SMOC1 is essential for ocular and limb development in humans and mice
    Ippei 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
  4. doi A novel homozygous variant in the SMOC1 gene underlying Waardenburg anophthalmia syndrome
    Asmat Ullah
    a Department of Biochemistry, Faculty of Biological Sciences, Quaid i Azam University, Islamabad, Pakistan
    Ophthalmic Genet . 2017
  5. pmc Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice
    Joe Rainger
    Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, UK
    PLoS Genet 7:e1002114. 2011
  6. pmc Genome-wide association study of ancestry-specific TB risk in the South African Coloured population
    Emile 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
  7. pmc Multistage genome-wide association meta-analyses identified two new loci for bone mineral density
    Lei Zhang
    Center of System Biomedical Sciences, University of Shanghai for Science and Technology, Shanghai, China
    Hum Mol Genet 23:1923-33. 2014
  8. doi Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability
    Barbara Oehl-Jaschkowitz
    Practice of Human Genetics, Homburg Saar, Germany
    Am J Med Genet A 164:620-6. 2014
  9. doi Role of secreted modular calcium-binding protein 1 (SMOC1) in transforming growth factor β signalling and angiogenesis
    Khader 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. 2015
  10. pmc SMOC Binds to Pro-EGF, but Does Not Induce Erk Phosphorylation via the EGFR
    J 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

Research Grants

  1. Genetic analysis of congenital diaphragmatic hernia
    Anne Slavotinek; Fiscal Year: 2006

Scientific Experts

  • Kathy Boon
  • Jyoti Srivastava
  • Adam J Lawrance-Owen
  • A M Slavotinek
  • Florence Brellier
  • Andre Megarbane
  • Ippei Okada
  • Asmat Ullah
  • J Terrig Thomas
  • Heather M Walline
  • Khader Awwad
  • Barbara Oehl-Jaschkowitz
  • Lei Zhang
  • Emile R Chimusa
  • Yukiko Kondo
  • M A Aldahmesh
  • Marina Klemenčič
  • D F Li
  • Bing Wang
  • Hiroshi Doi
  • Yoshinori Tsurusaki
  • Kiyomi Nishiyama
  • Noriko Miyake
  • Naomichi Matsumoto
  • Haruka Hamanoue
  • Satoko Miyatake
  • Hirotomo Saitsu
  • Ingrid Fleming
  • Josef Pfeilschifter
  • Hana Abouzeid
  • Joe Rainger
  • Ferda Ozkinay
  • Young Ae Choi
  • Roberto Di Niro
  • Dorothy E Pazin
  • Ellen Dreieicher
  • Ursula Hartmann
  • Richard Sherva
  • Nikolaus Gersdorff
  • Nicolai Miosge
  • Dost Muhammad
  • Sulman Basit
  • Wasim Ahmad
  • Farooq Ahmad
  • Muhammad Umair
  • Lina Chhuy-Hy
  • Malcolm Moos
  • Christine M Komarck
  • Gregory T Wolf
  • Kristin R Andrykovich
  • Carol R Bradford
  • Jonathan B McHugh
  • Thomas E Carey
  • J Chad Brenner
  • Francis P Worden
  • Erin L McKean
  • Emily L Bellile
  • Mark E Prince
  • Douglas B Chepeha
  • Randa Abdel Malik
  • Nina Zippel
  • Nicole Mangels
  • Johannes A Eble
  • Lei Shi
  • Rüdiger Popp
  • Jiong Hu
  • Beate Fisslthaler
  • Olivier M Vanakker
  • Eugene McCloskey
  • Hongyi Deng
  • Graeme Jones
  • Shuanglin Xiang
  • Paul J Leo
  • John A Eisman
  • Elizabeth A Streeten
  • Fernando Rivadeneira
  • Hui Shen
  • Xiangding Chen
  • Yong Lin
  • Philip N Sambrook
  • Eileen G Hoal
  • Yuan Chen
  • Nam H Cho
  • Andre G Uitterlinden
  • Yan Fang Guo
  • Fei Yan Deng
  • Yu Ping Wang
  • Tian Hu
  • Christian Vannahme
  • Alexander Christmann

Detail Information

Publications27

  1. ncbi Characterization of SMOC-1, a novel modular calcium-binding protein in basement membranes
    Christian 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...
  2. pmc Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome
    Hana 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 ..
  3. pmc SMOC1 is essential for ocular and limb development in humans and mice
    Ippei 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...
  4. doi A novel homozygous variant in the SMOC1 gene underlying Waardenburg anophthalmia syndrome
    Asmat 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...
  5. pmc Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice
    Joe 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...
  6. pmc Genome-wide association study of ancestry-specific TB risk in the South African Coloured population
    Emile 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. ..
  7. pmc Multistage genome-wide association meta-analyses identified two new loci for bone mineral density
    Lei 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...
  8. doi Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability
    Barbara 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 ..
  9. doi Role of secreted modular calcium-binding protein 1 (SMOC1) in transforming growth factor β signalling and angiogenesis
    Khader 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. 2015
    Secreted modular calcium-binding protein 1 (SMOC1) is a matricellular protein that potentially interferes with growth factor receptor signalling...
  10. pmc SMOC Binds to Pro-EGF, but Does Not Induce Erk Phosphorylation via the EGFR
    J 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. ..
  11. pmc Genomic Integration of High-Risk HPV Alters Gene Expression in Oropharyngeal Squamous Cell Carcinoma
    Heather 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 ..
  12. doi Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies
    Yukiko 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...
  13. doi Mutations in ALDH1A3 cause microphthalmia
    M 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...
  14. doi A genome-wide SNP scan reveals two loci associated with the chicken resistance to Marek's disease
    D 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...
  15. doi Genetic association suggests that SMOC1 mediates between prenatal sex hormones and digit ratio
    Adam 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...
  16. doi 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
    Bing 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...
  17. pmc The heparin-binding activity of secreted modular calcium-binding protein 1 (SMOC-1) modulates its cell adhesion properties
    Marina Klemenčič
    Department of Chemistry and Biochemistry, Faculty of Chemistry and Chemical Technology, University of Ljubljana, Ljubljana, Slovenia
    PLoS ONE 8:e56839. 2013
    ....
  18. pmc Eye development genes and known syndromes
    Anne 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 ..
  19. doi SMOC1 is a tenascin-C interacting protein over-expressed in brain tumors
    Florence 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...
  20. doi Secretome analysis of human BMSCs and identification of SMOC1 as an important ECM protein in osteoblast differentiation
    Young 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...
  21. pmc Rapid interactome profiling by massive sequencing
    Roberto 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...
  22. pmc Developmental expression of Smoc1 and Smoc2 suggests potential roles in fetal gonad and reproductive tract differentiation
    Dorothy 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. 2009
    b>SMOC1 and SMOC2 are matricellular proteins thought to influence growth factor signaling, migration, proliferation, and angiogenesis...
  23. pmc Nitric oxide inhibits glomerular TGF-beta signaling via SMOC-1
    Ellen 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...
  24. pmc Characterization of Smoc-1 uncovers two transcript variants showing differential tissue and age specific expression in Bubalus bubalis
    Jyoti 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...
  25. pmc A whole genome scan for pulse pressure/stroke volume ratio in African Americans: the HyperGEN study
    Richard 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...
  26. ncbi Secreted modular calcium-binding protein-1 localization during mouse embryogenesis
    Nikolaus 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...
  27. pmc Identification of astrocytoma associated genes including cell surface markers
    Kathy 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...

Research Grants1

  1. Genetic analysis of congenital diaphragmatic hernia
    Anne Slavotinek; Fiscal Year: 2006
    ..abstract_text> ..