Homo sapiens Protein: SNCAIP
Summary
InnateDB Protein IDBP-38782.6
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 ENSP00000261368
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.
Experimentally validated
Total 44 [view]
Protein-Protein 44 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0031625 ubiquitin protein ligase binding
GO:0042802 identical protein binding
Biological Process
GO:0008219 cell death
GO:0042417 dopamine metabolic process
GO:0046928 regulation of neurotransmitter secretion
GO:0090083 regulation of inclusion body assembly
Cellular Component
GO:0005737 cytoplasm
GO:0042734 presynaptic membrane
GO:0043025 neuronal cell body
Protein Structure and Domains
PDB ID
InterPro IPR002110 Ankyrin repeat
IPR020683 Ankyrin repeat-containing domain
PFAM PF00023
PF13606
PF11929
PF12796
PRINTS PR01415
PIRSF
SMART SM00248
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9Y6H5
PhosphoSite PhosphoSite-Q9Y6H5
TrEMBL D6RD29
UniProt Splice Variant
Entrez Gene 9627
UniGene Hs.740149
RefSeq NP_005451
HUGO HGNC:11139
OMIM 603779
CCDS CCDS4131
HPRD 04804
IMGT
EMBL AB110788 AB110789 AB110790 AC022101 AC113349 AC119150 AF076929 AF167301 AF167302 AF167303 AF167304 AF167305 AF167306 AK299687 BC033743 BC040552 BC094759 CH471086 DQ227317
GenPept AAD30362 AAG17478 AAH33743 AAH40552 AAH94759 ABB51162 BAD19017 BAD19018 BAD19019 BAH13102 EAW48889 EAW48890