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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
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