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FLASH GENE

Symbol

SNCAIP

contributors: mct - updated : 02-10-2013

HGNC name	synuclein, alpha interacting protein (synphilin)
HGNC id	11139

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	PARK25 Parkinson disease 25
Location	5q23.2      Physical location : 121.647.819 - 121.799.794
Synonym name	synphilin 1
Synonym symbol(s)	SYPH1, SPH1

DNA

TYPE	functioning gene
STRUCTURE	151.97 kb     11 Exon(s)

10 Kb 5' upstream gene genomic sequence study

motif	repetitive sequence
text structure	GT repeat polymorphic

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005460 11 - 3569 NP_005451 - 919 - 2004 15322916 synphilin NM_001242935 10 - 2588 NP_001229864 - 603 present in Lewy bodies of Parkinson's disease and Diffuse Lewy Body disease 2004 15322916 synphilin-1A having enhanced aggregatory properties and causing neurotoxicity binding to alpha-synuclein and inducing dopaminergic cells overexpression in neurons results in striking cellular toxicity attenuated by the formation of synphilin-1A inclusions, which recruit alpha-synuclein contributing to neuronal degeneration in alpha-synucleinopathies and providing important insights into the role of inclusion bodies in neurodegenerative disorders inhibits SIAH and modulates SNCA monoubiquitylation and inclusion formation (Szargel 2009)

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Digestive mouth       highly Hearing/Equilibrium ear inner cochlea   highly Nervous brain       highly Reproductive male system testis     moderately Respiratory lung       moderately   respiratory tract larynx     highly   respiratory tract trachea     moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective       lowly

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text	placenta highly

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a central domain
	six ankyrin-like (ANK) repeats
	a central coiled-coil domain that specifically interacts with the N-terminal stretch of SNCA
	an ATP/GTP binding domain
	a protein-protein interaction domain

HOMOLOGY

interspecies	homolog to rattus Sncaip (86.18 pc)
	homolog to murine Sncaip (86.97 pc)

Homologene

FAMILY

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus,nucleolus
text	neuropil

basic FUNCTION	promoting formation of cytosolic inclusions in neurons
	protecting the neurons against cellular stress
	synaptic partner of SNCA, may be mediating synaptic roles attributed to SNCA
	role in synaptic function and protein degradation and in the molecular mechanisms leading to neurodegeneration in Parkinson disease
	SNCAIP inhibition of the proteasomal pathway of degradation of SNCA may help to understand the pathophysiological changes occurring in Parkinson disease and other synucleinopathies

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	binding to SNCA and PARK2 in neurons
	interacting with PSMC4
	interacting with the E3 ubiquitin -ligase SIAH1 and SIAH2
	ubiquitylated by RNF19 in Parkinson disease
	ubiquitination by parkin may be involved in the formation of Lewy body inclusions associated with Parkinson disease
	PPHLN1 is a novel interactor of SNCAIP
	the specific interaction between SNCA and SNCAIP provides mechanistic insights into the inclusion-body formation in cells and pathological implication in Parkinson disease
	interacts with alpha-synuclein (SNCA), promoting its aggregation
	NUB1 is a SNCAIP-binding protein, also accumulating in Lewy bodies

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

PARK25

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       in Parkinson disease (component of Lewy bodies in brain) constitutional     --over   and accumulated in brain lesions in which SNCA is a major component tumoral somatic mutation       SNCAIP duplication is a somatic event highly specific to Group 4 medulloblastoma

Susceptibility

Variant & Polymorphism other	R621C mutation increase the risk of Parkinson disease

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS