SNCAIP

Also known as SYPH1, Sph1, synuclein alpha interacting protein

Synphilin-1 is a protein that in humans is encoded by the SNCAIP gene. SNCAIP stands for "synuclein, alpha interacting protein".

Gene data

SNCAIP

Name: synuclein alpha interacting protein
Type: protein-coding
Position: 122,311,354–122,464,224 (+)
Aliases: SYPH1, Sph1
Ensembl: ENSG00000064692
RefSeq RNA: NM_001242935.3, NM_001308100.2, NM_001308105.1, NM_001308106.1, NM_001308107.2
RefSeq protein: NP_001229864.1, NP_001295029.1, NP_001295034.1, NP_001295035.1, NP_001295036.1

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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015].

Gene Ontology

Biological process

cell death dopamine metabolic process regulation of neurotransmitter secretion regulation of inclusion body assembly

Molecular function

protein binding ubiquitin protein ligase binding ubiquitin protein ligase binding identical protein binding

Cellular component

cytoplasm cytoplasm cytoplasm cytosol synaptic vesicle cytoplasmic ribonucleoprotein granule presynaptic membrane neuronal cell body

Pathways

Parkinson disease - Homo sapiens (human)Pathways of neurodegeneration - multiple diseases - Homo sapiens (human)Metabolism of proteins Amyloid fiber formation Parkin-Ubiquitin Proteasomal System pathway Parkinson,s disease pathway

via MyGene.info

Gene · Ensembl

synuclein alpha interacting protein

Symbol: SNCAIP
Biotype: Protein coding
Organism: Homo sapiens
Location: 5:122,311,354-122,464,224
Strand: Forward (+)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Show 5 more facts

HomoloGene ID: 3987
exact match: identifiers.org/ncbigene/9627
genomic end: 121799914
genomic start: 121647049
cytogenetic location: 5q23.2

Sources (3)

via Wikidata · CC0

~4 min read

Article

7 sections

Contents

Structure
Function
Ubiquitination
Clinical significance
Interactions
References
Further reading

Synphilin-1 is a protein that in humans is encoded by the SNCAIP gene. SNCAIP stands for "synuclein, alpha interacting protein".

Synphilin-1 is a cytosolic protein first identified in 1999 as a novel binding partner of α-synuclein, localized within Lewy bodies in Parkinson's disease brain tissue. Experimental studies in mammalian cells and yeast demonstrated that co-expression of synphilin-1 with α-synuclein promotes the formation of cytoplasmic inclusions resembling Lewy bodies.