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FLASH GENE
Symbol SMOC1 contributors: mct - updated : 05-02-2011
HGNC name SPARC related modular calcium binding 1
HGNC id 20318
Corresponding disease
OPACS2 ophthalmo-acromelic syndrome 2
Location 14q24.1      Physical location : 70.346.142 - 70.499.083
Synonym name secreted modular calcium-binding protein 1
DNA
TYPE functioning gene
STRUCTURE 152.94 kb     12 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
12 - 3684 48.3 435 - 2002 12130637
12 - 3681 48.2 434 - 2002 12130637
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Digestiveliver    
Lymphoid/Immunethymus    
Nervousbrain    
Reproductivefemale systemovary  highly Homo sapiens
Urinarykidney     Homo sapiens
Visualeye     Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow    Homo sapiens
Connectivebone    Homo sapiens
Membranebasement membrane    Homo sapiens
Muscularstriatumskeletal   Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Reproductiveoocyte Homo sapiens
Skeletonosteoblast Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text brain
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a follistatin-like domain
  • a SMOC domain
  • two thyroglobulin-like domains
  • one extracellular calcium binding domain with two EF-hand motifs
  • three potential N-glycosylation sites
  • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to murine Smoc1
    Homologene
    FAMILY
  • SPARC family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION extracellular
    text extracellular matrix
    basic FUNCTION
  • with SMOC2 are matricellular proteins thought to influence growth factor signaling, migration, proliferation, and angiogenesis
  • may mediate intercellular signaling and cell type-specific differentiation during gonad and reproductive tract development
  • regulator of osteoblast differentiation of bone marrow derived mesenchymal stem cells
  • essential player in both ocular and limb development and give further support to the crucial roles of BMP signaling in these systems
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+ binding
  • protein
    cell & other
    REGULATION
    Other calcium-dependent conformation
    ASSOCIATED DISORDERS
    corresponding disease(s) OPACS2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Smoc1 null mice recapitulated MLA phenotypes, including aplasia or hypoplasia of optic nerves, hypoplastic fibula and bowed tibia, and syndactyly in limbs