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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
    Physical map
    SKIP 17p13 similar to Rap1 GTPase-activating protein 1 (Rap1GAP) PITPN 17p13.3 phosphotidylinositol transfer protein MGC34680 17p13.3 hypothetical protein MGC34680 RILP 17p13.3 hypothetical protein MGC34680 SCARF1 17p13.3 scavenger receptor class F, member 1 PRPF8 17p13.3 PRP8 pre-mRNA processing factor 8 homolog (yeast) LOC388317 17 LOC388317 MGC14376 17p13.3 hypothetical protein MGC14376 LOC388318 17 LOC388318 FLJ33817 17p13.3 hypothetical protein FLJ33817 SERPINF2 17p13 serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 SERPINF1 17p13.3 serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 KIAA1936 17p13.3 KIAA1936 protein RPA1 17p13.3 replication protein A1, 70kDa NGRH2 LOC388319 17 LOC388319 DPH2L1 17p13.3 diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae) OVCA2 17p13.3 diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae) HIC1 17p13.3 hypermethylated in cancer 1 C17orf31 17p13.3 chromosome 17 open reading frame 31 SRR 17q13.3 serine racemase LOC388320 17 similar to Heterogeneous nuclear ribonucleoprotein A1 (Helix-destabilizing protein) (Single-strand binding protein) (hnRNP core protein A1) (HDP-1) (Topoisomerase-inhibitor suppressed) FLJ10534 17p13.3 hypothetical protein FLJ10534 KIAA0397 17p13.3 hypothetical protein FLJ10534 MNT 17p13.3 MAX binding protein MGC3329 17p13.3 hypothetical protein MGC3329 LOC390755 17 similar to eukaryotic translation initiation factor 4A1; initiation factor eIF-4A long form PAFAH1B1 17p13.3 platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa KIAA0664 17q13.3 platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa LOC388321 17 similar to Rap1 GTPase-activating protein 1 (Rap1GAP) OR1D5 17p13.3 olfactory receptor, family 1, subfamily D, member 5
    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