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FLASH GENE
Symbol SNCAIP last update : 08-08-2007
HGNC name synuclein, alpha interacting protein (synphilin)
HGNC id 11139
Location 5q23.2
Synonym name synphilin 1
Synonym symbol(s) SYPH1
DNA RNA EXP/sub-loc PROTEIN PATHOLOGY
DNA
TYPE functioning gene
STRUCTURE 151.00 kb     11 Exon(s)
10 Kb 5' upstream gene genomic sequence study
motif repetitive sequence
text structure GT repeat polymorphic
MAPPING cloned Y linked N status confirmed
Physical map
FLJ33977 5q23.1 hypothetical protein FLJ33977 PTMAP2 5 prothymosin, alpha pseudogene 2 (gene sequence 32) LOC391822 5 similar to chromosome 20 open reading frame 147 DMXL1 5q22 Dmx-like 1 GG2-1 LOC389318 5 LOC389318 HSD17B4 5q2 hydroxysteroid (17-beta) dehydrogenase 4 LOC391823 5 similar to 60S RIBOSOMAL PROTEIN L21 LOC340069 5q23.2 hypothetical protein LOC340069 LOC391824 5 similar to tubulin, alpha 6; tubulin alpha 6 LOC348958 5q23.2 mitochondrial ribosomal protein L10 pseudogene LOC51334 5q23.2 mesenchymal stem cell protein DSC54 LOC391825 5 similar to 60S ribosomal protein L23a LOC256233 5q23.2 similar to ribosomal protein L18; 60S ribosomal protein L18 MTF mitochondrial ferritin FLJ25286 5q23.2 hypothetical protein FLJ25286 LOX 5q23.3-q31.2 lysyl oxidase LOC133923 5q23.2 similar to RIKEN cDNA 4933409D10 LOC153441 5q23.2 similar to RIKEN cDNA 4933409D10 SNCAIP 5q23.1-q23.3 synuclein, alpha interacting protein (synphilin) SNX2 5q23 sorting nexin 2 SNX24 5q23.2 sorting nexing 24 PPIC 5q23.2 peptidylprolyl isomerase C (cyclophilin C) PRDM6 5q21-q23 PR domain containing 6 LOC391826 5 similar to Ubiquitin-like protein SMT3C precursor (Ubiquitin-homology domain protein PIC1) (Ubiquitin-like protein UBL1) (Ubiquitin-related protein SUMO-1) (GAP modifying protein 1) (GMP1) (Sentrin) FLJ36090 5q23.2 hypothetical protein FLJ36090 CSNK1G3 5q23 casein kinase 1, gamma 3 LOC391827 5 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) KIAA1281 5q23.2 KIAA1281 protein LOC391828 5 similar to ribosomal protein L28 LOC391829 5 similar to High mobility group protein 1-like 10 (HMG-1L10) LOC389319 5 LOC389319 NS3TP2 5q23.3 HCV NS3-transactivated protein 2 ALDH7A1 5q31 aldehyde dehydrogenase 7 family, member A1 PHAX 5q23.3 likely ortholog of mouse phosphorylated adaptor for RNA export LOC133609 5q23.3 similar to 60S acidic ribosomal protein P1 LOC389320 5 hypothetical gene supported by AK131015 LOC285008 5q23.3 hypothetical gene supported by BC028282; BC028282; BC028282 LMNB1 5q23.3-q31.1 lamin B1 LOC389321 5 LOC389321 MGC48332 5q23.3 hypothetical protein MGC48332
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
kDaAAspecific expressionauthor
synphilin - - 3569
- 919 - Eyal
-
synphilin-1A - - 2564
- 603 present in Lewy bodies of Parkinson's disease and Diffuse Lewy Body disease Eyal
  • 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 / SUBCELLULAR LOCALIZATION
    EXPRESSION (based on citations) ubiquitous
    constitutive of
       expressed in
    organ(s)
    SystemOrgan 1organ 2organ 3organ 4level
    Cardiovascularheart   highly
    Digestivemouth   highly
    Hearing/Equilibriumearinnercochlea highly
    Nervousbrain   highly
    Reproductivemale systemtestis  moderately
    Respiratorylung   moderately
     respiratory tractlarynx  highly
     respiratory tracttrachea  moderately
    tissue
    SystemTissueS_TissueSs_Tissuelevel
    Connective   lowly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta highly
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    text neuropil
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a central domain
  • six ankyrin-like (ANK) repeats
  • a coiled coil domain
  • 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)
    homolog to chicken SNCAIP (75.72 pc)
    intraspecies
     
    Homologene
    FAMILY
    CATEGORY structural protein
    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
    • implicated in a
    process
    cellular process
    physiological
    pathway
    metabolism
    signaling
    a component
    structural
    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
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    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
    Susceptibility
    Variant & Polymorphism other R621C mutation increase the risk of Parkinson disease
    Candidate gene
    Therapy target
    animal or cellular model