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FLASH GENE
Symbol SRR contributors: mct - updated : 01-07-2011
HGNC name serine racemase
HGNC id 14398
Location 17p13.3      Physical location : 2.207.247 - 2.228.553
Synonym name
  • D-serine ammonia-lyase
  • D-serine dehydratase
    • Synonym symbol(s) ILV1, ISO1
    EC.number 4.3.1.17
    DNA
    TYPE functioning gene
    STRUCTURE 21.30 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 2477 - 340 - 2000 11054547
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Nervousbraindiencephalonamygdala highly Homo sapiens
     braindiencephalonthalamus highly Homo sapiens
     brainforebraincerebral cortex   Homo sapiens
    Reproductivefemale systembreastmammary gland highly Homo sapiens
    Visualeyeretina  moderately Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousastrocyte Homo sapiens
    Nervousneuron Homo sapiens
    Nervouspyramidal cell Homo sapiens
    VisualMuller cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period perinatal
    Text
  • high levels detected in retina during the early postnatal period, but diminishing considerably in the mature retina (
    • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    		N terminal pyridoxal phosphate attachment sequence
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • catalyzing synthesis of D serine from L serine
  • playing a role in neuronal activity and a potential biological role in the regulation of N-methyl-D-aspartate (NMDA) receptor activity in these peripheral organs as well
  • important contribution of neuronal D-serine during retinal development
  • involved in the regulation of synaptic plasticity, neural network formation, and neurodegenerative disorders
  • plays a key role in the regulation of brain functions under physiological and pathological conditions via the production of the neuromodulator D-serine
  • responsible for the synthesis of D-serine, an endogenous co-agonist for N-methyl-D-aspartate receptor-type glutamate receptors (NMDARs)
  • physiologic coagonist at NMDA receptors, having a role in NMDA receptor-mediated neurotoxicity and stroke
  • catalyzes the racemization between l- and d-serine
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    aberrant Srr function and diminished d-serine may contribute to schizophrenia pathogenesis
    constitutional     --over  
    increased expression in the hippocampus in schizophrenia (
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    psychiatryschizophrenia 
    promising target for the treatment of disorders related to NMDAR dysfunction
    ANIMAL & CELL MODELS
  • mutant Srr mice displayed behaviors relevant to schizophrenia, including impairments in prepulse inhibition, sociability and spatial discrimination