• Gene id: 9751

Gene Summary

• Gene Symbol: SNPH   Gene   UCSC   Ensembl
• Gene name: syntaphilin
• Alternate names: syntaphilin,
• Gene location: 20p13 (1266291: 1309326)     Exons: 7     NC_000020.11
• Gene summary(Entrez): Syntaxin-1, synaptobrevin/VAMP, and SNAP25 interact to form the SNARE complex, which is required for synaptic vesicle docking and fusion. The protein encoded by this gene is membrane-associated and inhibits SNARE complex formation by binding free syntaxin
• OMIM: 604942

Protein Summary

• Protein general information: O15079  
  • Name: Syntaphilin
  • Length: 494  
  • Mass: 53537
  • Tissue specificity: Brain specific. Found in synapses. {ECO
• Sequence:

  MAMSLPGSRRTSAGSRRRTSPPVSVRDAYGTSSLSSSSNSGSYKGSDSSPTPRRSMKYTLCSDNHGIKPPTPEQY
  LTPLQQKEVCIRHLKARLKDTQDRLQDRDTEIDDLKTQLSRMQEDWIEEECHRVEAQLALKEARKEIKQLKQVID
  TVKNNLIDKDKGLQKYFVDINIQNKKLETLLHSMEVAQNGMAKEDGTGESAGGSPARSLTRSSTYTKLSDPAVCG
  DRQPGDPSSGSAEDGADSGFAAADDTLSRTDALEASSLLSSGVDCGTEETSLHSSFGLGPRFPASNTYEKLLCGM
  EAGVQASCMQERAIQTDFVQYQPDLDTILEKVTQAQVCGTDPESGDRCPELDAHPSGPRDPNSAVVVTVGDELEA
  PEPITRGPTPQRPGANPNPGQSVSVVCPMEEEEEAAVAEKEPKSYWSRHYIVDLLAVVVPAVPTVAWLCRSQRRQ
  GQPIYNISSLLRGCCTVALHSIRRISCRSLSQPSPSPAGGGSQL

• Structural information:
  • Interpro: IPR026196  IPR028197  
  • STRING: ENSP00000371297
• Other Databases: GeneCards:  SNPH  Malacards:  SNPH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008017	microtubule binding	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0005881	cytoplasmic microtubule	IBA	cellular component
GO:0030182	neuron differentiation	IBA	biological process
GO:0005881	cytoplasmic microtubule	IDA	cellular component
GO:0017075	syntaxin-1 binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043005	neuron projection	IEA	cellular component
GO:0042734	presynaptic membrane	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0030182	neuron differentiation	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0016081	synaptic vesicle docking	NAS	biological process
GO:0017075	syntaxin-1 binding	NAS	molecular function
GO:0007269	neurotransmitter secretion	NAS	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq