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FLASH GENE
Symbol NIPA1 contributors: npt/mct/shn - updated : 21-10-2013
HGNC name non-imprinted in Prader-Willi/Angelman syndrome 1
HGNC id 17043
Corresponding disease
SPG6 spastic paraplegia 6
Location 15q11.2      Physical location : 23.043.280 - 23.086.843
Synonym name
  • spastic paraplegia 6 (autosomal dominant)
  • magnesium transporter NIPA1
  • non-imprinted in Prader-Willi/Angelman syndrome 1
  • non-imprinted in Prader-Willi/Angelman syndrome region protein 1
  • spastic paraplegia 6 protein
    • Synonym symbol(s) FSP3, MGC35570, MGC102724, SPG6
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem
    text located in tandem with NIPA2 on chromosome 15q
    STRUCTURE 43.16 kb     5 Exon(s)
    MAPPING cloned Y linked N status provisional
    Map cen - D15S1035 - NIPA1 - D15S646 - D15S817 - qter
    regionally located located between BP1 and BP2 in the WPS/AS critical region
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 6386 27.3 254 - -
    5 splicing 6565 34.6 329 - -
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   lowly Homo sapiensAdult
    Digestiveliver   moderately Homo sapiensAdult
    Endocrinepancreas   moderately Homo sapiensAdult
    Nervousbrain   highly Homo sapiensAdult
     brainforebraincerebral lobetemporal lobehighly Homo sapiensAdult
     brainforebraincerebral lobefrontal lobehighly Homo sapiensAdult
     brainforebraincerebral lobeoccipital lobehighly Homo sapiensAdult
     brainhindbrainmedulla oblongata highly Homo sapiensAdult
     brainforebraincerebral cortex highly Homo sapiensAdult
     brainhindbraincerebellum highly Homo sapiensAdult
     brainbasal nucleiputamen highly Homo sapiensAdult
     spinal cord   moderately Homo sapiensAdult
    Reproductivefemale systemplacenta  moderately Homo sapiensAdult
    Respiratorylung   moderately Homo sapiensAdult
    Urinarykidney   moderately Homo sapiensAdult
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal moderately Homo sapiensAdult
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text expressed in fetal heart
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two polyadenylation signals
  • nine predicted transmembrane domains
    • HOMOLOGY
    interspecies ortholog to Nipa1, Mus musculus
    ortholog to Nipa1, Rattus norvegicus
    ortholog to nipa1, Danio rerio
    ortholog to NIPA1, Pan troglodytes
    Homologene
    FAMILY
  • NIPA family
    • CATEGORY receptor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,endosome
    text
  • accumulation at the peripheral membrane in response to changes in magnesium
  • localize to the endosomal membrane traffic compartment, suggesting that the long axons of the corticospinal tract may be especially vulnerable to endosomal dysfunction (Tsang 2009)
    • basic FUNCTION
  • playing a role in nervous system development and maintenance
  • mediating Mg2+ transport and regulated by magnesium, indicating that it may play a role in control of cellular magnesium homeostasis
  • inhibitor of BMP signalling in neuronal and non-neuronal cells (Tsang 2009)
  • important role of NIPA1 in ALS pathogenesis and as a modulator of disease progression
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with the type II BMP receptor (BMPR2) and promotes its degradation through endocytosis and lysosomal degradation
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SPG6
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    in congenital heart disease
    constitutional       loss of function
    mutations or NIPA1 polyalanine expansions may result in defects in synapse and axon development
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • transgenic rats expressing a human NIPA1/SPG6 mutation in neurons show marked early onset behavioral and electrophysiologic abnormalities, accumulation of tubulovesicular organelles with endosomal features that start at axonal and dendritic terminals, followed by multifocal vacuolar degeneration in both the central nervous system and peripheral nerves