Homo sapiens Protein: SNCAIP | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-38786.5 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | SNCAIP | ||||||||||||||||||||||
Protein Name | synuclein, alpha interacting protein | ||||||||||||||||||||||
Synonyms | Sph1; SYPH1; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000261367 | ||||||||||||||||||||||
InnateDB Gene | IDBG-38780 (SNCAIP) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | Isoform 2 inhibits the ubiquitin ligase activity of SIAH1 and inhibits proteasomal degradation of target proteins. Isoform 2 inhibits autoubiquitination and proteasomal degradation of SIAH1, and thereby increases cellular levels of SIAH. Isoform 2 modulates SNCA monoubiquitination by SIAH1. {ECO:0000269PubMed:16595633, ECO:0000269PubMed:19224863}. | ||||||||||||||||||||||
Subcellular Localization | Cytoplasm {ECO:0000269PubMed:10319874, ECO:0000269PubMed:15064394, ECO:0000269PubMed:16595633, ECO:0000269PubMed:19762560}. Note=Detected in cytoplasmic inclusion bodies, together with SNCA. | ||||||||||||||||||||||
Disease Associations | Parkinson disease (PARK) [MIM:168600]: A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia. The pathology of Parkinson disease involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. The disease is progressive and usually manifests after the age of 50 years, although early-onset cases (before 50 years) are known. The majority of the cases are sporadic suggesting a multifactorial etiology based on environmental and genetic factors. However, some patients present with a positive family history for the disease. Familial forms of the disease usually begin at earlier ages and are associated with atypical clinical features. {ECO:0000269PubMed:12761037}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | Detected in brain (at protein level). Widely expressed, with highest levels in brain, heart and placenta. {ECO:0000269PubMed:10319874, ECO:0000269PubMed:16595633}. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 44 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR002110
Ankyrin repeat IPR020683 Ankyrin repeat-containing domain |
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PFAM |
PF00023
PF13606 PF11929 PF12796 |
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PRINTS |
PR01415
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PIRSF | |||||||||||||||||||||||
SMART |
SM00248
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q9Y6H5 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q9Y6H5 | ||||||||||||||||||||||
TrEMBL | D6RFL3 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 9627 | ||||||||||||||||||||||
UniGene | Hs.740149 | ||||||||||||||||||||||
RefSeq | XP_005272195 | ||||||||||||||||||||||
HUGO | HGNC:11139 | ||||||||||||||||||||||
OMIM | 603779 | ||||||||||||||||||||||
CCDS | |||||||||||||||||||||||
HPRD | 04804 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AB110788 AB110789 AB110790 AC022101 AC113349 AC119150 AF076929 AF167301 AF167302 AF167303 AF167304 AF167305 AF167306 BC033743 BC040552 BC094759 CH471086 DQ227317 | ||||||||||||||||||||||
GenPept | AAD30362 AAG17478 AAH33743 AAH40552 AAH94759 ABB51162 BAD19017 BAD19018 BAD19019 EAW48889 EAW48890 | ||||||||||||||||||||||