Synuclein Alpha Interacting Protein 1 (SNCaIP1)

SYPH1; Sph1; Synphilin 1; Alpha-synuclein-interacting protein

SPN	T998
HGNC	11139
MGI	1915097
PubMed	11331421
RGD	1309283
UniProt	Q9Y6H5
Wiki	SNCAIP

Synphilin-1 is 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. Widely expressed, with highest levels in brain, heart and placenta.

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.

Reference

"Synphilin-1 associates with alpha-synuclein and promotes the formation of cytosolic inclusions."
Nat. Genet. 22:110-114(1999) [PubMed] [Europe PMC] [Abstract]

"Organization of the human synphilin-1 gene, a candidate for Parkinson's disease."
Mamm. Genome 11:763-766(2000) [PubMed] [Europe PMC] [Abstract]

"Synphilin-1A: an aggregation-prone isoform of synphilin-1 that causes neuronal death and is present in aggregates from alpha-synucleinopathy patients."
Proc. Natl. Acad. Sci. U.S.A. 103:5917-5922(2006) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Parkin ubiquitinates the alpha-synuclein-interacting protein, synphilin-1: implications for Lewy-body formation in Parkinson disease."
Nat. Med. 7:1144-1150(2001) [PubMed] [Europe PMC] [Abstract]

"Dorfin localizes to Lewy bodies and ubiquitylates synphilin-1."
J. Biol. Chem. 278:29106-29114(2003) [PubMed] [Europe PMC] [Abstract]

"Siah-1 facilitates ubiquitination and degradation of synphilin-1."
J. Biol. Chem. 278:51504-51514(2003) [PubMed] [Europe PMC] [Abstract]

"Ubiquitylation of synphilin-1 and alpha-synuclein by SIAH and its presence in cellular inclusions and Lewy bodies imply a role in Parkinson's disease."
Proc. Natl. Acad. Sci. U.S.A. 101:5500-5505(2004) [PubMed] [Europe PMC] [Abstract]

"Synphilin-1A inhibits seven in absentia homolog (SIAH) and modulates alpha-synuclein monoubiquitylation and inclusion formation."
J. Biol. Chem. 284:11706-11716(2009) [PubMed] [Europe PMC] [Abstract]

"Interaction with synphilin-1 promotes inclusion formation of alpha-synuclein: mechanistic insights and pathological implication."
FASEB J. 24:196-205(2010) [PubMed] [Europe PMC] [Abstract]

"Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease."
Hum. Mol. Genet. 12:1223-1231(2003) [PubMed] [Europe PMC] [Abstract]

"Genetic association study of synphilin-1 in idiopathic Parkinson's disease."
BMC Med. Genet. 9:19-19(2008) [PubMed] [Europe PMC] [Abstract]