SNCAIP (synuclein alpha interacting protein)

2008-12-01  

Identity

HGNC
LOCATION
5q23.2
LOCUSID
ALIAS
SYPH1,Sph1
FUSION GENES

Other Information

Locus ID:

NCBI: 9627
MIM: 603779
HGNC: 11139
Ensembl: ENSG00000064692

Variants:

dbSNP: 9627
ClinVar: 9627
TCGA: ENSG00000064692
COSMIC: SNCAIP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000064692ENST00000261367Q9Y6H5
ENSG00000064692ENST00000261368Q9Y6H5
ENSG00000064692ENST00000379538Q9Y6H5
ENSG00000064692ENST00000395466Q6L981
ENSG00000064692ENST00000395469Q9Y6H5
ENSG00000064692ENST00000414317Q6L980
ENSG00000064692ENST00000504884Q6L981
ENSG00000064692ENST00000506272D6RFL3
ENSG00000064692ENST00000508017Q6L982
ENSG00000064692ENST00000508681D6RBR2
ENSG00000064692ENST00000509023Q6L980
ENSG00000064692ENST00000509154D6R9G8
ENSG00000064692ENST00000509652D6RHX3
ENSG00000064692ENST00000510658Q6L982
ENSG00000064692ENST00000512146Q6L983
ENSG00000064692ENST00000512385Q6L982
ENSG00000064692ENST00000514467D6RD29
ENSG00000064692ENST00000514497D6REC1
ENSG00000064692ENST00000515215Q6L982
ENSG00000064692ENST00000542191Q6L983

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
Parkinson's diseaseKEGGhsa05012
Metabolism of proteinsREACTOMER-HSA-392499
Amyloid fiber formationREACTOMER-HSA-977225

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
157288402005Parkin mediates nonclassical, proteasomal-independent ubiquitination of synphilin-1: implications for Lewy body formation.212
146276982004Aggresomes formed by alpha-synuclein and synphilin-1 are cytoprotective.108
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
186355532008Triggering aggresome formation. Dissecting aggresome-targeting and aggregation signals in synphilin 1.39
145062612003Siah-1 facilitates ubiquitination and degradation of synphilin-1.34
129154592003Gene expression changes presage neurodegeneration in a Drosophila model of Parkinson's disease.31
146452182004Casein kinase II-mediated phosphorylation regulates alpha-synuclein/synphilin-1 interaction and inclusion body formation.29
127610372003Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease.26
183352622008Differential expression of alpha-synuclein, parkin, and synphilin-1 isoforms in Lewy body disease.23
168773562006NUB1 suppresses the formation of Lewy body-like inclusions by proteasomal degradation of synphilin-1.20

Citation

Dessen P

SNCAIP (synuclein alpha interacting protein)

Atlas Genet Cytogenet Oncol Haematol. 2008-12-01

Online version: http://atlasgeneticsoncology.org/gene/50484/sncaip