• Gene id: 9627

Gene Summary

• Gene Symbol: SNCAIP   Gene   UCSC   Ensembl
• Aliases: SYPH1, Sph1
• Gene name: synuclein alpha interacting protein
• Alternate names: synphilin-1,
• Gene location: 5q23.2 (14774896: 14518556)     Exons: 15     NC_000010.11
• Gene summary(Entrez): 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
• OMIM: 603779

Protein Summary

• Protein general information: Q9Y6H5  
  • Name: Synphilin 1 (Sph1) (Alpha synuclein interacting protein)
  • Length: 919  
  • Mass: 100409
  • Tissue specificity: Detected in brain (at protein level). Widely expressed, with highest levels in brain, heart and placenta. {ECO
• Sequence:

  MEAPEYLDLDEIDFSDDISYSVTSLKTIPELCRRCDTQNEDRSVSSSSWNCGISTLITNTQKPTGIADVYSKFRP
  VKRVSPLKHQPETLENNESDDQKNQKVVEYQKGGESDLGPQPQELGPGDGVGGPPGKSSEPSTSLGELEHYDLDM
  DEILDVPYIKSSQQLASFTKVTSEKRILGLCTTINGLSGKACSTGSSESSSSNMAPFCVLSPVKSPHLRKASAVI
  HDQHKLSTEETEISPPLVKCGSAYEPENQSKDFLNKTFSDPHGRKVEKTTPDCQLRAFHLQSSAAESKPEEQVSG
  LNRTSSQGPEERSEYLKKVKSILNIVKEGQISLLPHLAADNLDKIHDENGNNLLHIAASQGHAECLQHLTSLMGE
  DCLNERNTEKLTPAGLAIKNGQLECVRWMVSETEAIAELSCSKDFPSLIHYAGCYGQEKILLWLLQFMQEQGISL
  DEVDQDGNSAVHVASQHGYLGCIQTLVEYGANVTMQNHAGEKPSQSAERQGHTLCSRYLVVVETCMSLASQVVKL
  TKQLKEQTVERVTLQNQLQQFLEAQKSEGKSLPSSPSSPSSPASRKSQWKSPDADDDSVAKSKPGVQEGIQVLGS
  LSASSRARPKAKDEDSDKILRQLLGKEISENVCTQEKLSLEFQDAQASSRNSKKIPLEKRELKLARLRQLMQRSL
  SESDTDSNNSEDPKTTPVRKADRPRPQPIVESVESMDSAESLHLMIKKHTLASGGRRFPFSIKASKSLDGHSPSP
  TSESSEPDLESQYPGSGSIPPNQPSGDPQQPSPDSTAAQKVATSPKSALKSPSSKRRTSQNLKLRVTFEEPVVQM
  EQPSLELNGEKDKDKGRTLQRTSTSNESGDQLKRPFGAFRSIMETLSGNQNNNNNYQAANQLKTSTLPLTSLGRK
  TDAKGNPASSASKGKNKAA

• Structural information:
  • Interpro: IPR002110  IPR020683  IPR036770  IPR040133  IPR032027  
  • Prosite: PS50297 PS50088
  • PDB: 2KES
  • PDBsum: 2KES
  • DIP: 61155
  • STRING: ENSP00000261368
• Other Databases: GeneCards:  SNCAIP  Malacards:  SNCAIP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008021	synaptic vesicle	TAS	cellular component
GO:0008219	cell death	IDA	biological process
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0046928	regulation of neurotransmitter secretion	IDA	biological process
GO:0042417	dopamine metabolic process	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0044267	cellular protein metabolic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0090083	regulation of inclusion body assembly	IDA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0036464	cytoplasmic ribonucleoprotein granule	IDA	cellular component
GO:0042734	presynaptic membrane	NAS	cellular component
GO:0043025	neuronal cell body	NAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05012	Parkinson disease

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray