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FLASH GENE
Symbol SNCAIP contributors: mct - updated : 02-10-2013
HGNC name synuclein, alpha interacting protein (synphilin)
HGNC id 11139
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 - 3569 - 919 - 2004 15322916
  • synphilin
  • 10 - 2588 - 603 present in Lewy bodies of Parkinson's disease and Diffuse Lewy Body disease 2004 15322916
  • synphilin-1A
  • having enhanced aggregatory properties and causing neurotoxicity
  • binding to alpha-synuclein and inducing dopaminergic cells
  • overexpression in neurons results in striking cellular toxicity attenuated by the formation of synphilin-1A inclusions, which recruit alpha-synuclein
  • contributing to neuronal degeneration in alpha-synucleinopathies and providing important insights into the role of inclusion bodies in neurodegenerative disorders
  • inhibits SIAH and modulates SNCA monoubiquitylation and inclusion formation (Szargel 2009)
  • EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestivemouth   highly
    Hearing/Equilibriumearinnercochlea highly
    Nervousbrain   highly
    Reproductivemale systemtestis  moderately
    Respiratorylung   moderately
     respiratory tractlarynx  highly
     respiratory tracttrachea  moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connective   lowly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta highly
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a central domain
  • six ankyrin-like (ANK) repeats
  • a central coiled-coil domain that specifically interacts with the N-terminal stretch of SNCA
  • an ATP/GTP binding domain
  • a protein-protein interaction domain
  • HOMOLOGY
    interspecies homolog to rattus Sncaip (86.18 pc)
    homolog to murine Sncaip (86.97 pc)
    Homologene
    FAMILY
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleolus
    text neuropil
    basic FUNCTION
  • promoting formation of cytosolic inclusions in neurons
  • protecting the neurons against cellular stress
  • synaptic partner of SNCA, may be mediating synaptic roles attributed to SNCA
  • role in synaptic function and protein degradation and in the molecular mechanisms leading to neurodegeneration in Parkinson disease
  • SNCAIP inhibition of the proteasomal pathway of degradation of SNCA may help to understand the pathophysiological changes occurring in Parkinson disease and other synucleinopathies
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to SNCA and PARK2 in neurons
  • interacting with PSMC4
  • interacting with the E3 ubiquitin -ligase SIAH1 and SIAH2
  • ubiquitylated by RNF19 in Parkinson disease
  • ubiquitination by parkin may be involved in the formation of Lewy body inclusions associated with Parkinson disease
  • PPHLN1 is a novel interactor of SNCAIP
  • the specific interaction between SNCA and SNCAIP provides mechanistic insights into the inclusion-body formation in cells and pathological implication in Parkinson disease
  • interacts with alpha-synuclein (SNCA), promoting its aggregation
  • NUB1 is a SNCAIP-binding protein, also accumulating in Lewy bodies
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PARK25
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in Parkinson disease (component of Lewy bodies in brain)
    constitutional     --over  
    and accumulated in brain lesions in which SNCA is a major component
    tumoral somatic mutation      
    SNCAIP duplication is a somatic event highly specific to Group 4 medulloblastoma
    Susceptibility
    Variant & Polymorphism other R621C mutation increase the risk of Parkinson disease
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS