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	10815
Gene name	Complexin 1
Gene symbol	CPLX1
Synonyms (NCBI Gene)	CPX-ICPX1DEE63EIEE63
Chromosome	4
Chromosome location	4p16.3
Summary	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

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Show/Hide all (100)

miRTarBase ID	miRNA	Experiments	Reference
MIRT489947	hsa-miR-3141	PAR-CLIP	23592263
MIRT489946	hsa-miR-7112-5p	PAR-CLIP	23592263
MIRT489945	hsa-miR-6749-5p	PAR-CLIP	23592263
MIRT489943	hsa-miR-6499-5p	PAR-CLIP	23592263
MIRT489944	hsa-miR-6132	PAR-CLIP	23592263
MIRT489942	hsa-miR-6836-5p	PAR-CLIP	23592263
MIRT489941	hsa-miR-2277-5p	PAR-CLIP	23592263
MIRT489940	hsa-miR-3960	PAR-CLIP	23592263
MIRT489939	hsa-miR-8072	PAR-CLIP	23592263
MIRT489938	hsa-miR-4767	PAR-CLIP	23592263
MIRT489937	hsa-miR-1207-5p	PAR-CLIP	23592263
MIRT489936	hsa-miR-4763-3p	PAR-CLIP	23592263
MIRT489935	hsa-miR-4467	PAR-CLIP	23592263
MIRT489934	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT489933	hsa-miR-3178	PAR-CLIP	23592263
MIRT489947	hsa-miR-3141	PAR-CLIP	23592263
MIRT489946	hsa-miR-7112-5p	PAR-CLIP	23592263
MIRT489945	hsa-miR-6749-5p	PAR-CLIP	23592263
MIRT489943	hsa-miR-6499-5p	PAR-CLIP	23592263
MIRT489944	hsa-miR-6132	PAR-CLIP	23592263
MIRT489942	hsa-miR-6836-5p	PAR-CLIP	23592263
MIRT489941	hsa-miR-2277-5p	PAR-CLIP	23592263
MIRT489940	hsa-miR-3960	PAR-CLIP	23592263
MIRT489939	hsa-miR-8072	PAR-CLIP	23592263
MIRT489938	hsa-miR-4767	PAR-CLIP	23592263
MIRT489937	hsa-miR-1207-5p	PAR-CLIP	23592263
MIRT489936	hsa-miR-4763-3p	PAR-CLIP	23592263
MIRT489935	hsa-miR-4467	PAR-CLIP	23592263
MIRT489934	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT489933	hsa-miR-3178	PAR-CLIP	23592263
MIRT906243	hsa-miR-135a	CLIP-seq
MIRT906244	hsa-miR-135b	CLIP-seq
MIRT906245	hsa-miR-1538	CLIP-seq
MIRT906246	hsa-miR-15a	CLIP-seq
MIRT906247	hsa-miR-15b	CLIP-seq
MIRT906248	hsa-miR-16	CLIP-seq
MIRT906249	hsa-miR-1915	CLIP-seq
MIRT906250	hsa-miR-195	CLIP-seq
MIRT906251	hsa-miR-3065-5p	CLIP-seq
MIRT906252	hsa-miR-34b	CLIP-seq
MIRT906253	hsa-miR-3943	CLIP-seq
MIRT906254	hsa-miR-421	CLIP-seq
MIRT906255	hsa-miR-424	CLIP-seq
MIRT906256	hsa-miR-4270	CLIP-seq
MIRT906257	hsa-miR-4272	CLIP-seq
MIRT906258	hsa-miR-4324	CLIP-seq
MIRT906259	hsa-miR-4434	CLIP-seq
MIRT906260	hsa-miR-4441	CLIP-seq
MIRT906261	hsa-miR-4480	CLIP-seq
MIRT906262	hsa-miR-4516	CLIP-seq
MIRT906263	hsa-miR-4679	CLIP-seq
MIRT906264	hsa-miR-4687-3p	CLIP-seq
MIRT906265	hsa-miR-4694-5p	CLIP-seq
MIRT906266	hsa-miR-4729	CLIP-seq
MIRT906267	hsa-miR-4745-3p	CLIP-seq
MIRT906268	hsa-miR-497	CLIP-seq
MIRT906269	hsa-miR-518a-5p	CLIP-seq
MIRT906270	hsa-miR-527	CLIP-seq
MIRT906271	hsa-miR-647	CLIP-seq
MIRT1968598	hsa-miR-1293	CLIP-seq
MIRT1968599	hsa-miR-1343	CLIP-seq
MIRT1968600	hsa-miR-1469	CLIP-seq
MIRT1968601	hsa-miR-3124-5p	CLIP-seq
MIRT1968602	hsa-miR-3180	CLIP-seq
MIRT1968603	hsa-miR-3180-3p	CLIP-seq
MIRT1968604	hsa-miR-3196	CLIP-seq
MIRT1968605	hsa-miR-323-5p	CLIP-seq
MIRT1968606	hsa-miR-4483	CLIP-seq
MIRT1968607	hsa-miR-4508	CLIP-seq
MIRT1968608	hsa-miR-4731-5p	CLIP-seq
MIRT1968609	hsa-miR-541	CLIP-seq
MIRT1968610	hsa-miR-615-5p	CLIP-seq
MIRT1968611	hsa-miR-637	CLIP-seq
MIRT1968612	hsa-miR-654-5p	CLIP-seq
MIRT1968613	hsa-miR-744	CLIP-seq
MIRT1968614	hsa-miR-938	CLIP-seq
MIRT2204681	hsa-miR-1914	CLIP-seq
MIRT2204682	hsa-miR-3689d	CLIP-seq
MIRT2204683	hsa-miR-4255	CLIP-seq
MIRT2204684	hsa-miR-4283	CLIP-seq
MIRT2204685	hsa-miR-4449	CLIP-seq
MIRT1968613	hsa-miR-744	CLIP-seq
MIRT2204686	hsa-miR-765	CLIP-seq
MIRT1968608	hsa-miR-4731-5p	CLIP-seq
MIRT2508126	hsa-miR-3119	CLIP-seq
MIRT2508127	hsa-miR-3120-5p	CLIP-seq
MIRT2508128	hsa-miR-346	CLIP-seq
MIRT2508129	hsa-miR-4288	CLIP-seq
MIRT2508130	hsa-miR-4421	CLIP-seq
MIRT2508131	hsa-miR-4487	CLIP-seq
MIRT2508132	hsa-miR-632	CLIP-seq
MIRT2508133	hsa-miR-767-3p	CLIP-seq
MIRT2508126	hsa-miR-3119	CLIP-seq
MIRT2508127	hsa-miR-3120-5p	CLIP-seq
MIRT2508128	hsa-miR-346	CLIP-seq
MIRT2508129	hsa-miR-4288	CLIP-seq
MIRT2508130	hsa-miR-4421	CLIP-seq
MIRT2508131	hsa-miR-4487	CLIP-seq
MIRT2508132	hsa-miR-632	CLIP-seq
MIRT2508133	hsa-miR-767-3p	CLIP-seq

Show/Hide all (39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000149	Function	SNARE binding	IBA
GO:0000149	Function	SNARE binding	IEA
GO:0005515	Function	Protein binding	IPI	21785412, 21785414
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006836	Process	Neurotransmitter transport	IEA
GO:0006887	Process	Exocytosis	IEA
GO:0006887	Process	Exocytosis	TAS	7553862
GO:0007268	Process	Chemical synaptic transmission	TAS	7553862
GO:0016079	Process	Synaptic vesicle exocytosis	IBA
GO:0016079	Process	Synaptic vesicle exocytosis	IEA
GO:0017075	Function	Syntaxin-1 binding	IEA
GO:0017157	Process	Regulation of exocytosis	IEA
GO:0017157	Process	Regulation of exocytosis	TAS	15217342
GO:0019905	Function	Syntaxin binding	IEA
GO:0030073	Process	Insulin secretion	IEA
GO:0030425	Component	Dendrite	IEA
GO:0031201	Component	SNARE complex	IBA
GO:0031201	Component	SNARE complex	IEA
GO:0031630	Process	Regulation of synaptic vesicle fusion to presynaptic active zone membrane	IBA
GO:0031630	Process	Regulation of synaptic vesicle fusion to presynaptic active zone membrane	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043195	Component	Terminal bouton	IBA
GO:0043204	Component	Perikaryon	IEA
GO:0044305	Component	Calyx of Held	IEA
GO:0045202	Component	Synapse	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	IBA
GO:0070032	Component	Synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex	IEA
GO:0070554	Component	Synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex	IEA
GO:0070554	Component	Synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex	TAS	15217342
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098793	Component	Presynapse	IEA
GO:0098793	Component	Presynapse	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099145	Process	Regulation of exocytic insertion of neurotransmitter receptor to postsynaptic membrane	IEA

MIM	HGNC	e!Ensembl
605032	2309	ENSG00000168993

O14810

Protein name

Complexin-1 (Complexin I) (CPX I) (Synaphin-2)

Protein function

Positively regulates a late step in exocytosis of various cytoplasmic vesicles, such as synaptic vesicles and other secretory vesicles (PubMed:21785414). Organizes the SNAREs into a cross-linked zigzag topology that, when interposed between the

PDB

3RK3 , 3RL0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05835	Synaphin	1 → 133	Synaphin protein	Family

Tissue specificity

TISSUE SPECIFICITY: Nervous system. In hippocampus and cerebellum, expressed mainly by inhibitory neurons. Overexpressed in substantia nigra from patients with Parkinson disease. {ECO:0000269|PubMed:11483314, ECO:0000269|PubMed:15526345, ECO:0000269|PubMe

Sequence

MEFVMKQALGGATKDMGKMLGGDEEKDPDAAKKEEERQEALRQAEEERKAKYAKMEAERE
AVRQGIRDKYGIKKKEEREAEAQAAMEANSEGSLTRPKKAIPPGCGDEVEEEDESILDTV
IKYLPGPLQDMLKK

Sequence length

134

Interactions

View interactions

	KEGG		Reactome
	Synaptic vesicle cycle		Serotonin Neurotransmitter Release Cycle Norepinephrine Neurotransmitter Release Cycle Glutamate Neurotransmitter Release Cycle Dopamine Neurotransmitter Release Cycle Acetylcholine Neurotransmitter Release Cycle GABA synthesis, release, reuptake and degradation

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal brain morphology	Likely pathogenic	rs1060499735	RCV000454222
Developmental and epileptic encephalopathy, 63	Likely pathogenic; Pathogenic	rs2475059446, rs1060499735, rs1553851860	RCV002283755 RCV000627075 RCV000627076

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
4p partial monosomy syndrome	Conflicting classifications of pathogenicity	rs371709824	RCV005357827
CPLX1-related disorder	Benign; Likely benign	rs376378419, rs749055234, rs369493468, rs541047416, rs573107948, rs374943037	RCV003956387 RCV003923590 RCV003918904 RCV003942049 RCV003947247 RCV003943231
Primary ciliary dyskinesia 18	Benign	rs2306250	RCV001544049

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Inhibit	31699905
Ataxia	Associate	28422131
Atrial Fibrillation	Associate	37960721
Brain Diseases	Associate	28422131
Central Nervous System Vascular Malformations	Associate	26539891
Cerebellar Diseases	Associate	28422131
Dementia	Inhibit	22832958
Developmental Disabilities	Associate	28422131
Diabetes Gestational	Associate	35721735
Epilepsies Myoclonic	Associate	28422131
general anxiety disorder	Associate	36344488
Heredodegenerative Disorders Nervous System	Associate	26539891
Insulin Resistance	Associate	32100372
Obesity	Associate	32100372
Obsessive Compulsive Disorder	Associate	36344488
Parkinson Disease	Associate	28108469
REM Sleep Behavior Disorder	Associate	28108469
Tooth Migration	Associate	28422131
Vasculitis	Associate	36797040

CPLX1 (complexin 1)