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FLASH GENE
Symbol PRSS12 contributors: mct - updated : 18-11-2013
HGNC name protease, serine, 12 (neurotrypsin, motopsin)
HGNC id 9477
Corresponding disease
MRAR2 non syndromic mental retardation 2
Location 4q26      Physical location : 119.201.193 - 119.273.922
Synonym name
  • motopsin
  • leydin
  • brain-specific serine protease 3
  • neurotrypsin
  • serine protease 12
  • Synonym symbol(s) BSSP3, BSSP-3, MGC12722, MOTOPSIN, MRT1
    EC.number 3.4.21.-
    DNA
    TYPE functioning gene
    STRUCTURE 71.51 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC344978 4q26 similar to actinin, alpha 4 MGC26568 NT5C3P1 4q26 5'-nucleotidase, cytosolic III pseudogene 1 NDST3 4q26 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 PRSS12 4q24-q25 protease, serine, 12 (neurotrypsin, motopsin) MGC26143 4q27 hypothetical protein MGC26143 LOC389220 4 LOC389220 LOC391690 4 similar to capicua homolog KIAA1627 4q27 KIAA1627 protein SEC24D 4q26 SEC24 related gene family, member D (S. cerevisiae) SYNPO2 4q26 synaptopodin 2 MYOZ2 4q26-q27 myozenin 2 MRPL42P1 4q27 myozenin 2 KIAA1350 FABP2 4q28-q31 fatty acid binding protein 2, intestinal LOC201989 4q27 similar to Glycerol kinase, testis specific 1 (ATP:glycerol 3-phosphotransferase) (Glycerokinase) (GK) LOC389221 4 similar to hypothetical protein LOC349114 LOC389222 4 LOC389222 LOC152972 4q27 similar to bA291L22.2 (similar to CDC10 (cell division cycle 10, S. cerevisiae, homolog)) PDE5A 4q26 phosphodiesterase 5A, cGMP-specific LOC391691 4 similar to ARHGAP20 protein MAD2L1 4q27 MAD2 mitotic arrest deficient-like 1 (yeast)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 3351 - 875 - 1998 9540828
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbraindiencephalonamygdala  
     brainlimbic systemhippocampus   Homo sapiens
     spinal cordanterior horn  predominantly Homo sapiens
    Reproductivemale systemtestis   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    ReproductiveLeydig cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a signal peptide
  • a proline-rich segment
  • a kringle domain,followed by four scavenger receptor cysteine rich-domains
  • a serine protease domain
  • three scavenger receptor cysteine-rich domains
  • a protease domain at the C-terminal
  • HOMOLOGY
    Homologene
    FAMILY
  • peptidase S1 family
  • PRS protease subfamily S, serine,PRSS domain
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic,vesicle
    text presynaptic membrane and presynaptic active zone of both asymmetrical(excitatory) and symmetrical (inhibitory) synapses
    basic FUNCTION
  • playing a role in neuronal plasticity and the proteolytic action
  • may be crucial for adaptative synaptic functions, such as those required to establish and/or maintain higher cognitive functions
  • mosaic serine proteases having several domains in the proenzyme fragment, which modulate proteolytic function
  • multidomain protein that serves as a brain-specific serine protease
  • preferentially affects social behaviors, and modulates the functions of hippocampal neurons
  • plays a significant role in cognitive function and the development of the brain, since the loss of motopsin function causes severe mental retardation
  • is activity-dependently secreted from neuronal cells, is captured around the synaptic cleft
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • neurotrypsin/agrin system implicated in the regulation of adaptive reorganizations of the synaptic circuitry in the context of cognitive functions, such as learning and memory
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • cleaves a proteoglycan, agrin
  • SEZ6 bound to the proline-rich/kringle domain of motopsin, and interaction of motopsin and SEZ6 modulates the neuronal cell morphology
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MRAR2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    causes nonsyndromic mental retardation
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS