• Gene id: 10815

Gene Summary

• Gene Symbol: CPLX1   Gene   UCSC   Ensembl
• Aliases: CPX-I, CPX1, EIEE63
• Gene name: complexin 1
• Alternate names: complexin-1, CPX I, complexin I, synaphin 2,
• Gene location: 4p16.3 (18099026: 18058993)     Exons: 20     NC_000019.10
• Gene summary(Entrez): Proteins encoded by the complexin/synaphin gene family are cytosolic proteins that function in synaptic vesicle exocytosis. These proteins bind syntaxin, part of the SNAP receptor. The protein product of this gene binds to the SNAP receptor complex and
• OMIM: 605032

Protein Summary

• Protein general information: O14810  
  • Name: Complexin 1 (Complexin I) (CPX I) (Synaphin 2)
  • Length: 134  
  • Mass: 15030
  • Tissue specificity: Nervous system. In hippocampus and cerebellum, expressed mainly by inhibitory neurons. Overexpressed in substantia nigra from patients with Parkinson disease. {ECO
• Sequence:

  MEFVMKQALGGATKDMGKMLGGDEEKDPDAAKKEEERQEALRQAEEERKAKYAKMEAEREAVRQGIRDKYGIKKK
  EEREAEAQAAMEANSEGSLTRPKKAIPPGCGDEVEEEDESILDTVIKYLPGPLQDMLKK

• Structural information:
  • Interpro: IPR008849  
  • PDB: 3RK3 3RL0
  • PDBsum: 3RK3 3RL0
  • DIP: 56109
  • STRING: ENSP00000305613
• Other Databases: GeneCards:  CPLX1  Malacards:  CPLX1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017157	regulation of exocytosis	TAS	biological process
GO:0070554	synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex	TAS	cellular component
GO:0046928	regulation of neurotransmitter secretion	IBA	biological process
GO:0043195	terminal bouton	IBA	cellular component
GO:0031201	SNARE complex	IBA	cellular component
GO:0017075	syntaxin-1 binding	IBA	molecular function
GO:0016079	synaptic vesicle exocytosis	IBA	biological process
GO:0000149	SNARE binding	IBA	molecular function
GO:0006836	neurotransmitter transport	IEA	biological process
GO:0019905	syntaxin binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006836	neurotransmitter transport	IEA	biological process
GO:0006887	exocytosis	IEA	biological process
GO:0007268	chemical synaptic transmission	TAS	biological process
GO:0006887	exocytosis	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: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:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0007269	neurotransmitter secretion	TAS	biological process
GO:0014047	glutamate secretion	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0099003	vesicle-mediated transport in synapse	IEA	biological process
GO:0098967	exocytic insertion of neurotransmitter receptor to postsynaptic membrane	IEA	biological process
GO:0098793	presynapse	IEA	cellular component
GO:0044305	calyx of Held	IEA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0000149	SNARE binding	IEA	molecular function
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0098794	postsynapse	IEA	cellular component
GO:0098685	Schaffer collateral - CA1 synapse	IEA	cellular component
GO:0031630	regulation of synaptic vesicle fusion to presynaptic active zone membrane	IEA	biological process
GO:0031201	SNARE complex	IEA	cellular component
GO:0030073	insulin secretion	IEA	biological process
GO:0016079	synaptic vesicle exocytosis	IEA	biological process
GO:0005326	neurotransmitter transmembrane transporter activity	IEA	molecular function
GO:0098794	postsynapse	IEA	cellular component
GO:0070032	synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex	IEA	cellular component
GO:0032991	protein-containing complex	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0017075	syntaxin-1 binding	IEA	molecular function
GO:0016079	synaptic vesicle exocytosis	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0043204	perikaryon	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04721	Synaptic vesicle cycle

Diseases

Associated diseases	References
Early infantile epileptic encephalopathy	KEGG:H00606
4p deletion syndrome	KEGG:H01773
Early infantile epileptic encephalopathy	KEGG:H00606
4p deletion syndrome	KEGG:H01773
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray