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FLASH GENE
Symbol SP4 contributors: mct - updated : 08-04-2011
HGNC name Sp4 transcription factor
HGNC id 11209
Location 7p15.3      Physical location : 21.467.688 - 21.554.149
Synonym symbol(s) SPR-1, HF1B, MGC130008, MGC130009
DNA
TYPE functioning gene
STRUCTURE 86.47 kb     6 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
6 - 5811 - 784 - 2000 10814800
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Hearing/Equilibriumearinnercochlea highly
Nervousbrain     Homo sapiens
 brainlimbic systemhippocampus highly Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervouscentral    Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron Homo sapiens
Visualcone photoreceptor
Visualrod photoreceptor
cell lineage
cell lines
fluid/secretion
at STAGE
Text expressed restrictively in the developing nervous system
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • long serine/threonine and glutamine rich region (transactivation domain) at the N terminus
  • a buttonhead (BTD) box CXCPXC, just N-terminal to the zinc fingers
  • a DNA binding domain with three zinc fingers of the Cys2/His2 type near the C terminus
  • HOMOLOGY
    Homologene
    FAMILY
  • SP1 C2H2-type zinc-finger protein family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    text expressed in various neurons of all retinal layers
    basic FUNCTION
  • transcriptional activator playing an essential role for hippocampal integrity
  • controlling with CRX the photoreceptor-specific gene transcription
  • controls dendritic patterning during cerebellar development by limiting branch formation and promoting activity-dependent pruning
  • recognizes GC-rich sequences readily identified in the ‘CpG islands’ around the promoters of a variety of genes
  • may be involved in post-transcriptional regulation of GRIN1 expression, such as Y-box proteins which function as both DNA- and RNA-binding proteins
  • regulates dendritic patterning during cerebellar granule neuron development by limiting branching and promoting activity-dependent pruning
  • during cerebellar granule neuron development, SP4-dependent repression of NTF3 is required to limit dendritic branching and thereby promote acquisition of the mature dendritic pattern
  • SP4 molecular pathway could play an important role for a range of psychiatric and neurological diseases (Alzheimer disease) characterized by abnormal NMDA neurotransmission
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding to GT box
    RNA
    small molecule
    protein
  • functional synergy of SP1, SP3, SP4 with the photoreceptor-enriched CRX transcriptional regulator on the rod opsin promoter but not the beta-PDE promoter, although SP4-mediated activation was the most significant
  • co-localizes or overlaps with multiple retina-restricted and -enriched genes, its putative targets
  • bound to the NTF3 promoter, supporting a direct role for SP4 as a repressor of NTF3 expression
  • cell & other
  • activating both the rod opsin and beta-PDE promoters
  • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    sporadically in schizophrenia patients
    constitutional     --low  
    dramatically decreased the expression of NMDAR1, markedly reduced long-term potentiation (LTP) in hippocampal CA1 and impaired the formation of spatial memory
    Susceptibility to schizophrenia and other psychiatric disorders
    Variant & Polymorphism other
  • polymorphisms are associated with schizophrenia and other psychiatric disorders
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • hypomorphic Sp4 mice display hippocampal vacuolization and concomitant deficits in memory and sensorimotor gating
  • Sp4 hypomorphic mouse represent a novel hypoglutamatergic model for psychiatric diseases, including schizophrenia