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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
DIABETIC NEPHROPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease, Dominant/Recessive	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson disease, late-onset	Likely benign	ClinVar CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Show/Hide Text Mining Associations (30)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute Cerebrovascular Accidents	Stroke	BEFREE	31804702		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35633541	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33062672	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	17467279, 18335262		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	10660265		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	31804702		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	11331421, 15728840, 16174773, 18366718, 26465922	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	16595633, 18335262, 21937912		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	22832581	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	26465922	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	19229105, 30316984		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	33562355	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	16595633, 16969096		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	LHGDN	16595633		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	25545246	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	GWASCAT_DG	27047539		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	10967135, 11300726, 11331421, 11427316, 11590439, 11744167, 11784370, 11958831, 12423244, 12750386, 12761037, 12846976, 14639662, 14756800, 15064394 View all (24 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	11331421, 14756800, 15728840, 16595633, 18366718, 18635553, 20604806, 21130735, 22832581, 26465922, 34148545, 39766295, 40369541	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	LHGDN	12750386, 12761037, 12915459, 15322916, 15728840, 15894486, 18292964		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	CTD_human_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	17467279, 18335262		★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	BEFREE	11134398		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	BEFREE	31804702		★★★★★ ★☆☆☆☆ Found in Text Mining only

SNCAIP (synuclein alpha interacting protein)