Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9627
Gene name	Synuclein alpha interacting protein
Gene symbol	SNCAIP
Synonyms (NCBI Gene)	SYPH1Sph1
Chromosome	5
Chromosome location	5q23.2
Summary	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 ro

Show/Hide all (84)

miRTarBase ID	miRNA	Experiments
MIRT1375424	hsa-miR-300	CLIP-seq
MIRT1375425	hsa-miR-381	CLIP-seq
MIRT1375426	hsa-miR-4666-3p	CLIP-seq
MIRT1375427	hsa-miR-4789-5p	CLIP-seq
MIRT1375428	hsa-miR-548n	CLIP-seq
MIRT2628930	hsa-miR-1252	CLIP-seq
MIRT2628931	hsa-miR-1321	CLIP-seq
MIRT2628932	hsa-miR-149	CLIP-seq
MIRT2628933	hsa-miR-1913	CLIP-seq
MIRT2628934	hsa-miR-2110	CLIP-seq
MIRT2628935	hsa-miR-218	CLIP-seq
MIRT2628936	hsa-miR-24	CLIP-seq
MIRT2628937	hsa-miR-28-5p	CLIP-seq
MIRT2628938	hsa-miR-3064-5p	CLIP-seq
MIRT2628939	hsa-miR-3115	CLIP-seq
MIRT2628940	hsa-miR-3139	CLIP-seq
MIRT2628941	hsa-miR-3153	CLIP-seq
MIRT2628942	hsa-miR-3159	CLIP-seq
MIRT2628943	hsa-miR-3160-3p	CLIP-seq
MIRT2628944	hsa-miR-3167	CLIP-seq
MIRT2628945	hsa-miR-324-3p	CLIP-seq
MIRT2628946	hsa-miR-3661	CLIP-seq
MIRT2628947	hsa-miR-3675-5p	CLIP-seq
MIRT2628948	hsa-miR-3908	CLIP-seq
MIRT2628949	hsa-miR-4271	CLIP-seq
MIRT2628950	hsa-miR-4284	CLIP-seq
MIRT2628951	hsa-miR-4522	CLIP-seq
MIRT2628952	hsa-miR-4659a-3p	CLIP-seq
MIRT2628953	hsa-miR-4659b-3p	CLIP-seq
MIRT2628954	hsa-miR-4663	CLIP-seq
MIRT2628955	hsa-miR-4695-3p	CLIP-seq
MIRT2628956	hsa-miR-4705	CLIP-seq
MIRT2628957	hsa-miR-4718	CLIP-seq
MIRT2628958	hsa-miR-4725-3p	CLIP-seq
MIRT2628959	hsa-miR-4728-3p	CLIP-seq
MIRT2628960	hsa-miR-4739	CLIP-seq
MIRT2628961	hsa-miR-4756-5p	CLIP-seq
MIRT2628962	hsa-miR-4762-5p	CLIP-seq
MIRT2628963	hsa-miR-4766-3p	CLIP-seq
MIRT2628964	hsa-miR-4794	CLIP-seq
MIRT2628965	hsa-miR-491-3p	CLIP-seq
MIRT2628966	hsa-miR-545	CLIP-seq
MIRT2628967	hsa-miR-548p	CLIP-seq
MIRT2628968	hsa-miR-631	CLIP-seq
MIRT2628969	hsa-miR-636	CLIP-seq
MIRT2628970	hsa-miR-708	CLIP-seq
MIRT2628971	hsa-miR-876-5p	CLIP-seq
MIRT2628930	hsa-miR-1252	CLIP-seq
MIRT2628931	hsa-miR-1321	CLIP-seq
MIRT2628932	hsa-miR-149	CLIP-seq
MIRT2628933	hsa-miR-1913	CLIP-seq
MIRT2628934	hsa-miR-2110	CLIP-seq
MIRT2628935	hsa-miR-218	CLIP-seq
MIRT2628936	hsa-miR-24	CLIP-seq
MIRT2628937	hsa-miR-28-5p	CLIP-seq
MIRT2628938	hsa-miR-3064-5p	CLIP-seq
MIRT2628939	hsa-miR-3115	CLIP-seq
MIRT2628940	hsa-miR-3139	CLIP-seq
MIRT2628941	hsa-miR-3153	CLIP-seq
MIRT2628943	hsa-miR-3160-3p	CLIP-seq
MIRT2628945	hsa-miR-324-3p	CLIP-seq
MIRT2628946	hsa-miR-3661	CLIP-seq
MIRT2628947	hsa-miR-3675-5p	CLIP-seq
MIRT2628948	hsa-miR-3908	CLIP-seq
MIRT2628949	hsa-miR-4271	CLIP-seq
MIRT2628950	hsa-miR-4284	CLIP-seq
MIRT2628951	hsa-miR-4522	CLIP-seq
MIRT2628954	hsa-miR-4663	CLIP-seq
MIRT2628955	hsa-miR-4695-3p	CLIP-seq
MIRT2628956	hsa-miR-4705	CLIP-seq
MIRT2628957	hsa-miR-4718	CLIP-seq
MIRT2628958	hsa-miR-4725-3p	CLIP-seq
MIRT2628959	hsa-miR-4728-3p	CLIP-seq
MIRT2628960	hsa-miR-4739	CLIP-seq
MIRT2628961	hsa-miR-4756-5p	CLIP-seq
MIRT2628962	hsa-miR-4762-5p	CLIP-seq
MIRT2628963	hsa-miR-4766-3p	CLIP-seq
MIRT2628964	hsa-miR-4794	CLIP-seq
MIRT2628965	hsa-miR-491-3p	CLIP-seq
MIRT2628966	hsa-miR-545	CLIP-seq
MIRT2628967	hsa-miR-548p	CLIP-seq
MIRT2628968	hsa-miR-631	CLIP-seq
MIRT2628969	hsa-miR-636	CLIP-seq
MIRT2628970	hsa-miR-708	CLIP-seq

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	10319874, 11590439, 11956199, 12044636, 12364339, 16595633, 19762560, 23284848, 32814053
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	14506261
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	10319874
GO:0005829	Component	Cytosol	TAS
GO:0008021	Component	Synaptic vesicle	TAS	21563316
GO:0008219	Process	Cell death	IDA	16595633
GO:0031625	Function	Ubiquitin protein ligase binding	IBA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	15728840
GO:0036464	Component	Cytoplasmic ribonucleoprotein granule	IDA
GO:0042417	Process	Dopamine metabolic process	IDA	14506261
GO:0042734	Component	Presynaptic membrane	NAS	11956199
GO:0042802	Function	Identical protein binding	IPI	19762560
GO:0043025	Component	Neuronal cell body	NAS	11956199
GO:0046928	Process	Regulation of neurotransmitter secretion	IDA	14506261
GO:0090083	Process	Regulation of inclusion body assembly	IDA	15603737

MIM	HGNC	e!Ensembl
603779	11139	ENSG00000064692

Q9Y6H5

Protein name

Synphilin-1 (Sph1) (Alpha-synuclein-interacting protein)

Protein 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

PDB

2KES

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12796	Ank_2	322 → 416	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	406 → 487	Ankyrin repeats (3 copies)	Repeat
PF16700	SNCAIP_SNCA_bd	512 → 557	Synphilin-1 alpha-Synuclein-binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Detected in brain (at protein level). Widely expressed, with highest levels in brain, heart and placenta. {ECO:0000269|PubMed:10319874, ECO:0000269|PubMed:16595633}.

Sequence

MEAPEYLDLDEIDFSDDISYSVTSLKTIPELCRRCDTQNEDRSVSSSSWNCGISTLITNT
QKPTGIADVYSKFRPVKRVSPLKHQPETLENNESDDQKNQKVVEYQKGGESDLGPQPQEL
GPGDGVGGPPGKSSEPSTSLGELEHYDLDMDEILDVPYIKSSQQLASFTKVTSEKRILGL
CTTINGLSGKACSTGSSESSSSNMAPFCVLSPVKSPHLRKASAVIHDQHKLSTEETEISP
PLVKCGSAYEPENQSKDFLNKTFSDPHGRKVEKTTPDCQLRAFHLQSSAAESKPEEQVSG
LNRTSSQGPEERSEYLKKVKSILNIVKEGQISLLPHLAADNLDKIHDENGNNLLHIAASQ
GHAECLQHLTSLMGEDCLNERNTEKLTPAGLAIKNGQLECVRWMVSETEAIAELSCSKDF
PSLIHYAGCYGQEKILLWLLQFMQEQGISLDEVDQDGNSAVHVASQHGYLGCIQTLVEYG
ANVTMQNHAGEKPSQSAERQGHTLCSRYLVVVETCMSLASQVVKLTKQLKEQTVERVTLQ
NQLQQFLEAQKSEGKSLPSSPSSPSSPASRKSQWKSPDADDDSVAKSKPGVQEGIQVLGS
LSASSRARPKAKDEDSDKILRQLLGKEISENVCTQEKLSLEFQDAQASSRNSKKIPLEKR
ELKLARLRQLMQRSLSESDTDSNNSEDPKTTPVRKADRPRPQPIVESVESMDSAESLHLM
IKKHTLASGGRRFPFSIKASKSLDGHSPSPTSESSEPDLESQYPGSGSIPPNQPSGDPQQ
PSPDSTAAQKVATSPKSALKSPSSKRRTSQNLKLRVTFEEPVVQMEQPSLELNGEKDKDK
GRTLQRTSTSNESGDQLKRPFGAFRSIMETLSGNQNNNNNYQAANQLKTSTLPLTSLGRK
TDAKGNPASSASKGKNKAA

Sequence length

919

Interactions

View interactions

	KEGG		Reactome
	Parkinson disease Pathways of neurodegeneration - multiple diseases		Amyloid fiber formation

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Parkinson Disease, Dominant/Recessive	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	rs28937592, rs886059823, rs147594642, rs55770446, rs113042472, rs536468779, rs886059826, rs187197845, rs192969505, rs886059825, rs144384727, rs377374083, rs139256839, rs149180835, rs886059828 View all (57 more)	RCV000314385 RCV000407696 RCV000323147 RCV000291899 RCV000401765 RCV000301656 RCV000324710 RCV000381580 RCV000311066 RCV000262434 RCV000376801 RCV000345780 RCV000355225 RCV000270655 RCV000292977 RCV000333388 RCV000284525 RCV000288151 RCV000394460 RCV000349136 RCV000298051 RCV000262821 RCV000358844 RCV000328101 RCV000384882 RCV000388219 RCV000368102 RCV000276029 RCV000354899 RCV000319782 RCV000380243 RCV000371260 RCV000402264 RCV000267258 RCV000350048 RCV001152414 RCV001157889 RCV001157890 RCV001157892 RCV001152415 RCV001152416 RCV001152417 RCV001152418 RCV001152419 RCV001153689 RCV001156296 RCV001156297 RCV001156300 RCV001157972 RCV001157974 RCV001157975 RCV001157976 RCV001157977 RCV001152512 RCV001153784 RCV001153785 RCV001153786 RCV001153787 RCV001153788 RCV001153789 RCV001156413 RCV001156414 RCV001156415 RCV001158079 RCV001158080 RCV001158081 RCV001158082 RCV001157891 RCV001156298 RCV001156299 RCV001157973 RCV001158083
Parkinson disease, late-onset	Likely benign	rs28937592	RCV000006451

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Associate	35633541
Carcinoma Renal Cell	Associate	33062672
Drug Related Side Effects and Adverse Reactions	Associate	14627698
Hyperphagia	Associate	25545246
Lewy Body Disease	Associate	11331421, 15728840, 16174773, 18366718, 26465922
Medulloblastoma	Associate	22832581
Multiple System Atrophy	Associate	26465922
Neoplasms	Associate	35633541
Neurodegenerative Diseases	Associate	33562355
Obesity	Associate	25545246
Parkinson Disease	Associate	11331421, 14756800, 15728840, 16595633, 18366718, 18635553, 20604806, 21130735, 22832581, 26465922, 34148545, 39766295, 40369541
Plaque Amyloid	Associate	21130735
Spinocerebellar Degenerations	Associate	19211984
Synucleinopathies	Associate	16595633, 26465922
Urologic Diseases	Associate	34573432

SNCAIP (synuclein alpha interacting protein)