SNCAIP

Synphilin-1 is a protein that in humans is encoded by the SNCAIP gene.^[5][6] SNCAIP stands for "synuclein, alpha interacting protein" and can be signified by SNCAP_HUMAN, synphilin 1, synuclein, alpha interacting protein (synphilin), and SYPH1.

SNCAIP
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2KES
Identifiers
Aliases	SNCAIP, SYPH1, Sph1, synuclein alpha interacting protein
External IDs	OMIM: 603779; MGI: 1915097; HomoloGene: 3987; GeneCards: SNCAIP; OMA:SNCAIP - orthologs
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5q23.2 Start 122,311,354 bp[1] End 122,464,219 bp[1]
Gene location (Mouse) Chr. Chromosome 18 (mouse)[2] Band 18|18 D1 Start 52,900,781 bp[2] End 53,049,007 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ventricular zone ganglionic eminence germinal epithelium periodontal fiber endometrium parietal pleura stromal cell of endometrium epithelium of bronchus bronchial epithelial cell myometrium Top expressed in genital tubercle ventricular zone ganglionic eminence lumbar subsegment of spinal cord external carotid artery saccule internal carotid artery neural tube Rostral migratory stream renal corpuscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding ubiquitin protein ligase binding identical protein binding Cellular component cytoplasm cytosol soma presynaptic membrane synaptic vesicle nucleoplasm cytoplasmic ribonucleoprotein granule Biological process regulation of inclusion body assembly dopamine metabolic process cell death regulation of neurotransmitter secretion Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9627 67847 Ensembl ENSG00000064692 ENSMUSG00000024534 UniProt Q9Y6H5 Q99ME3 RefSeq (mRNA) NM_001242935 NM_001308100 NM_001308105 NM_001308106 NM_001308107 NM_001308108 NM_001308109 NM_005460 NM_001199151 NM_001199153 NM_001199154 NM_026408 RefSeq (protein) NP_001229864 NP_001295029 NP_001295034 NP_001295035 NP_001295036 NP_001295037 NP_001295038 NP_005451 NP_001186080 NP_001186082 NP_001186083 NP_080684 NP_001390575 NP_001390576 NP_001390577 Location (UCSC) Chr 5: 122.31 – 122.46 Mb Chr 18: 52.9 – 53.05 Mb PubMed search [3] [4]
Wikidata
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Function

This gene encodes a protein containing several protein-protein interaction domains, including ankyrin-like repeats, a coiled-coil domain, and an ATP/GTP-binding motif. The encoded protein interacts with alpha-synuclein in neuronal tissue and may play a role in the formation of cytoplasmic inclusions and neurodegeneration. A mutation in this gene has been associated with Parkinson's disease. Alternatively spliced transcript variants encoding different isoforms of this gene have been described, but their full-length nature has yet to be determined.^[6]

The SNCAIP gene provides instructions for making a protein called synphilin-1 and a slightly different version of this protein called synphilin-1A. These proteins are produced in the brain. They are usually located in specialized structures called presynaptic terminals, found at the tips of nerve cells. In nerve cells, synphilin-1 and synphilin-1A interact with another protein called alpha-synuclein. The functions of synphilin-1 and synphilin-1A, however, are unknown.

Interactions

SNCAIP has been shown to interact with:

• Alpha-synuclein^[5][7][8][9] and
• Parkin (ligase).^[10]