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FLASH GENE
Symbol OSR1 contributors: mct/pgu/shn - updated : 31-07-2013
HGNC name odd-skipped related 1 (Drosophila)
HGNC id 8111
Location 2p24.1      Physical location : 19.551.246 - 19.558.372
Synonym name
  • odd-skipped homolog (Drosophila)
  • odd-skipped (Drosophila) homolog
  • odd-skipped homolog
  • protein odd-skipped-related 1
  • Synonym symbol(s) ODD, Odd 1
    DNA
    TYPE functioning gene
    STRUCTURE 7.13 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   transcription factor
    text structure several Runx2 and Ikzf1 binding sites in the promoter
    MAPPING cloned Y linked N status provisional
    Map pter - D2S387 - D2S305 - OSR1 - D2S1358 - D2S2233 - cen
    RNA
    TRANSCRIPTS type messenger
    text OSR1(rs12329305(T)) allele disturbs OSR1 mRNA expression in renal progenitor cells PMID: 21821672
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 1911 - 266 - 2002 12119563
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Visualeyelens    Homo sapiens
    cell lineage
    cell lines expressed in human mesenchymal stem cells, the blastemal component of Wilms tumors and CD24+/CD133+ progenitor cells isolated from the mature kidney
    fluid/secretion
    at STAGE
    physiological period embryo, fetal
    Text During mouse early embryogenesis Osr1 is expressed in the intermediate mesoderm and in a dynamic pattern during limb and branchial arch development
  • restricted to the central dorsal domain of the mouse atrial myocardium during normal heart development
  • PROTEIN
    PHYSICAL PROPERTIES basic
    STRUCTURE
    motifs/domains
  • three C2H2-type zinc fingers, a tyrosine phosphorylation site (Tyr 203), and several putative PXXP SH3 binding motifs
  • kinase domain (aa17291); PF1 domain (aa292344), with the putative caspase 3 recognized sequence DEFD at the end (aa434527), PF2 domain
  • PF1 domain is essential for OSR1 kinase activity
  • HOMOLOGY
    interspecies ortholog to drosophila odd
    ortholog to Osr1, Mus musculus
    ortholog to Osr1, Rattus norvegicus
    ortholog to osr1, Danio rerio
    ortholog to OSR1, pan troglodytes
    intraspecies homolog to OSR2
    Homologene
    FAMILY odd-skipped (odd) protein
    CATEGORY transcription factor , transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • plays an important role in establishing kidney precursor cells, and in regulating their differentiation into kidney tubular tissue
  • required to limit endoderm differentiation from mesendoderm
  • zinc finger transcription factor
  • playing important roles in embryonic heart and urogenital development
  • OSR1 and OSR2 function is required for maintenance of expression of signaling molecules critical for joint formation, including GDF5, WNT4 and WNT9B
  • OSR1 and OSR2 function redundantly to control synovial joint formation
  • STK39 and OSR1 may be critical factors in the regulation of depolarizing GABA-mediated processes in the developing brain
  • involved in SLC12A3 phosphorylation with SPAK kinases
  • STK39 and OSR1 regulate sodium-chloride co-transporters SLC12A3, and SLC12A1 in a nephron-specific manner
  • STK39 and OSR1 associate with membranes as peripheral proteins and exhibited distinct subcellular and region-specific expression profiles throughout the lens
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS electron transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • ion Zn2+ binding
  • protein
  • WNK1 affects ion transport in part through activation of OSR1 and STK39
  • WNK1 activation of the OSR1 signaling cascade is likely an essential pathway that regulates angiogenesis and cardiac formation during development
  • separation of functions for the WNK1-activated protein kinases OSR1 and STK39 in mediating proliferation, invasion, and gene expression in endothelial cells and an unanticipated link between WNK1 and SNAI2 that is important for angiogenesis
  • both, STK39 and OSR1, are negative regulators of the creatine transporter SLC6A8
  • WNK1 and WNK4 are the targets for the KLHL3-CUL3 complex and modulate the activity of SLC12A5 by means of intermediary Ste20-type kinases known as STK39 or OSR1
  • cell & other
    REGULATION
    activated by WNK1 and WNK4
    Phosphorylated by WNK1
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in gastric cancer
    Susceptibility OSR1(rs12329305(T)) allele is associated with reduction of newborn kidney size and function
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Odd 1(-/-) mutant mouse embryos fail to form atrial septum, display dilated atria with hypoplastic venous valves, and exhibit blood backflow from the heart into systemic veins
  • homozygous Odd 1(-/-) mutant mouse embryos exhibit complete agenesis of adrenal glands, metanephric kidneys, gonads, and defects in pericardium formation
  • Knockdown of osr1 in zebrafish embryos resulted in a complete, segment-specific loss of anterior kidney progenitors and a compensatory increase in the number of angioblast cells in the same trunk region
  • Osr1(-/-) mutant mice died at midgestation