UniProtKB - O14810 (CPLX1_HUMAN)
Protein
Complexin-1
Gene
CPLX1
Organism
Homo sapiens (Human)
Status
Functioni
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 vesicle and plasma membranes, is incompatible with fusion, thereby preventing SNAREs from releasing neurotransmitters until an action potential arrives at the synapse (PubMed:21785414). Also involved in glucose-induced secretion of insulin by pancreatic beta-cells. Essential for motor behavior.By similarity1 Publication
GO - Molecular functioni
- neurotransmitter transmembrane transporter activity Source: Ensembl
- SNARE binding Source: GO_Central
- syntaxin-1 binding Source: GO_Central
GO - Biological processi
- chemical synaptic transmission Source: ProtInc
- exocytosis Source: ProtInc
- glutamate secretion Source: Reactome
- insulin secretion Source: Ensembl
- neurotransmitter secretion Source: Reactome
- regulation of exocytosis Source: ParkinsonsUK-UCL
- regulation of neurotransmitter secretion Source: GO_Central
- synaptic vesicle exocytosis Source: GO_Central
Keywordsi
Biological process | Exocytosis, Neurotransmitter transport, Transport |
Enzyme and pathway databases
PathwayCommonsi | O14810 |
Reactomei | R-HSA-181429, Serotonin Neurotransmitter Release Cycle R-HSA-181430, Norepinephrine Neurotransmitter Release Cycle R-HSA-210500, Glutamate Neurotransmitter Release Cycle R-HSA-212676, Dopamine Neurotransmitter Release Cycle R-HSA-264642, Acetylcholine Neurotransmitter Release Cycle R-HSA-888590, GABA synthesis, release, reuptake and degradation |
Names & Taxonomyi
Protein namesi | Recommended name: Complexin-1Alternative name(s): Complexin I Short name: CPX I Synaphin-2 |
Gene namesi | Name:CPLX1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000168993.14 |
HGNCi | HGNC:2309, CPLX1 |
MIMi | 605032, gene |
neXtProti | NX_O14810 |
Subcellular locationi
Cytosol
- cytosol By similarity
Other locations
- Perikaryon By similarity
- presynapse By similarity
Note: Enriched at synaptic-releasing sites in mature neurons.By similarity
Cytosol
- cytosol Source: Reactome
Other locations
- calyx of Held Source: Ensembl
- dendrite Source: Ensembl
- perikaryon Source: UniProtKB-SubCell
- postsynapse Source: Ensembl
- SNARE complex Source: GO_Central
- synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex Source: Ensembl
- synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex Source: ParkinsonsUK-UCL
- terminal bouton Source: GO_Central
Keywords - Cellular componenti
Cell junction, Cell projection, Cytoplasm, SynapsePathology & Biotechi
Involvement in diseasei
Epileptic encephalopathy, early infantile, 63 (EIEE63)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE63 is an autosomal recessive disease with onset in infancy.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_080795 | 105 – 134 | Missing in EIEE63. 1 PublicationAdd BLAST | 30 | |
Natural variantiVAR_080796 | 108 – 134 | Missing in EIEE63. 1 PublicationAdd BLAST | 27 | |
Natural variantiVAR_080797 | 128 | L → M in EIEE63; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs371709824EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease mutation, EpilepsyOrganism-specific databases
DisGeNETi | 10815 |
GeneReviewsi | CPLX1 |
MalaCardsi | CPLX1 |
MIMi | 617976, phenotype |
OpenTargetsi | ENSG00000168993 |
Orphaneti | 352582, Familial infantile myoclonic epilepsy |
PharmGKBi | PA26826 |
Miscellaneous databases
Pharosi | O14810, Tbio |
Polymorphism and mutation databases
BioMutai | CPLX1 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000144870 | 1 – 134 | Complexin-1Add BLAST | 134 |
Proteomic databases
EPDi | O14810 |
MassIVEi | O14810 |
MaxQBi | O14810 |
PaxDbi | O14810 |
PeptideAtlasi | O14810 |
PRIDEi | O14810 |
ProteomicsDBi | 48251 |
PTM databases
iPTMneti | O14810 |
PhosphoSitePlusi | O14810 |
Expressioni
Tissue specificityi
Nervous system. In hippocampus and cerebellum, expressed mainly by inhibitory neurons. Overexpressed in substantia nigra from patients with Parkinson disease.3 Publications
Gene expression databases
Bgeei | ENSG00000168993, Expressed in lateral nuclear group of thalamus and 153 other tissues |
ExpressionAtlasi | O14810, baseline and differential |
Genevisiblei | O14810, HS |
Organism-specific databases
HPAi | ENSG00000168993, Tissue enriched (brain) |
Interactioni
Subunit structurei
Binds to the SNARE core complex containing SNAP25, VAMP2 and STX1A.
1 PublicationBinary interactionsi
O14810
With | #Exp. | IntAct |
---|---|---|
SNAP25 - isoform 2 [P60880-2] | 6 | EBI-2691813,EBI-12177361 |
GO - Molecular functioni
- SNARE binding Source: GO_Central
- syntaxin-1 binding Source: GO_Central
Protein-protein interaction databases
BioGRIDi | 116028, 37 interactors |
CORUMi | O14810 |
DIPi | DIP-56109N |
IntActi | O14810, 12 interactors |
MINTi | O14810 |
STRINGi | 9606.ENSP00000305613 |
Miscellaneous databases
RNActi | O14810, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | O14810 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 48 – 70 | Interaction with the SNARE complexBy similarityAdd BLAST | 23 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 29 – 69 | Sequence analysisAdd BLAST | 41 |
Sequence similaritiesi
Belongs to the complexin/synaphin family.Curated
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | ENOG502S3I2, Eukaryota |
GeneTreei | ENSGT00950000182938 |
InParanoidi | O14810 |
OMAi | VMKFIPT |
OrthoDBi | 1556534at2759 |
PhylomeDBi | O14810 |
TreeFami | TF315172 |
Family and domain databases
InterProi | View protein in InterPro IPR008849, Synaphin |
PANTHERi | PTHR16705, PTHR16705, 1 hit |
Pfami | View protein in Pfam PF05835, Synaphin, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All
O14810-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MEFVMKQALG GATKDMGKML GGDEEKDPDA AKKEEERQEA LRQAEEERKA
60 70 80 90 100
KYAKMEAERE AVRQGIRDKY GIKKKEEREA EAQAAMEANS EGSLTRPKKA
110 120 130
IPPGCGDEVE EEDESILDTV IKYLPGPLQD MLKK
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketD6RI11 | D6RI11_HUMAN | Complexin-1 | CPLX1 | 113 | Annotation score: | ||
D6RAG3 | D6RAG3_HUMAN | Complexin-1 | CPLX1 | 110 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_080795 | 105 – 134 | Missing in EIEE63. 1 PublicationAdd BLAST | 30 | |
Natural variantiVAR_080796 | 108 – 134 | Missing in EIEE63. 1 PublicationAdd BLAST | 27 | |
Natural variantiVAR_080797 | 128 | L → M in EIEE63; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs371709824EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF022383 mRNA Translation: AAB72108.1 KJ534815 mRNA Translation: AHW56455.1 BT007029 mRNA Translation: AAP35676.1 AB593095 mRNA Translation: BAJ84035.1 AK311921 mRNA Translation: BAG34862.1 AC139887 Genomic DNA No translation available. CH471131 Genomic DNA Translation: EAW82648.1 CH471131 Genomic DNA Translation: EAW82649.1 BC002471 mRNA Translation: AAH02471.1 |
CCDSi | CCDS46995.1 |
RefSeqi | NP_006642.1, NM_006651.3 |
Genome annotation databases
Ensembli | ENST00000304062; ENSP00000305613; ENSG00000168993 |
GeneIDi | 10815 |
KEGGi | hsa:10815 |
UCSCi | uc003gbi.4, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF022383 mRNA Translation: AAB72108.1 KJ534815 mRNA Translation: AHW56455.1 BT007029 mRNA Translation: AAP35676.1 AB593095 mRNA Translation: BAJ84035.1 AK311921 mRNA Translation: BAG34862.1 AC139887 Genomic DNA No translation available. CH471131 Genomic DNA Translation: EAW82648.1 CH471131 Genomic DNA Translation: EAW82649.1 BC002471 mRNA Translation: AAH02471.1 |
CCDSi | CCDS46995.1 |
RefSeqi | NP_006642.1, NM_006651.3 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
3RK3 | X-ray | 3.50 | E | 26-83 | [»] | |
3RL0 | X-ray | 3.80 | g/h/i/j/k/l/m/n | 26-83 | [»] | |
SMRi | O14810 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 116028, 37 interactors |
CORUMi | O14810 |
DIPi | DIP-56109N |
IntActi | O14810, 12 interactors |
MINTi | O14810 |
STRINGi | 9606.ENSP00000305613 |
PTM databases
iPTMneti | O14810 |
PhosphoSitePlusi | O14810 |
Polymorphism and mutation databases
BioMutai | CPLX1 |
Proteomic databases
EPDi | O14810 |
MassIVEi | O14810 |
MaxQBi | O14810 |
PaxDbi | O14810 |
PeptideAtlasi | O14810 |
PRIDEi | O14810 |
ProteomicsDBi | 48251 |
Protocols and materials databases
Antibodypediai | 22160, 165 antibodies |
DNASUi | 10815 |
Genome annotation databases
Ensembli | ENST00000304062; ENSP00000305613; ENSG00000168993 |
GeneIDi | 10815 |
KEGGi | hsa:10815 |
UCSCi | uc003gbi.4, human |
Organism-specific databases
CTDi | 10815 |
DisGeNETi | 10815 |
EuPathDBi | HostDB:ENSG00000168993.14 |
GeneCardsi | CPLX1 |
GeneReviewsi | CPLX1 |
HGNCi | HGNC:2309, CPLX1 |
HPAi | ENSG00000168993, Tissue enriched (brain) |
MalaCardsi | CPLX1 |
MIMi | 605032, gene 617976, phenotype |
neXtProti | NX_O14810 |
OpenTargetsi | ENSG00000168993 |
Orphaneti | 352582, Familial infantile myoclonic epilepsy |
PharmGKBi | PA26826 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502S3I2, Eukaryota |
GeneTreei | ENSGT00950000182938 |
InParanoidi | O14810 |
OMAi | VMKFIPT |
OrthoDBi | 1556534at2759 |
PhylomeDBi | O14810 |
TreeFami | TF315172 |
Enzyme and pathway databases
PathwayCommonsi | O14810 |
Reactomei | R-HSA-181429, Serotonin Neurotransmitter Release Cycle R-HSA-181430, Norepinephrine Neurotransmitter Release Cycle R-HSA-210500, Glutamate Neurotransmitter Release Cycle R-HSA-212676, Dopamine Neurotransmitter Release Cycle R-HSA-264642, Acetylcholine Neurotransmitter Release Cycle R-HSA-888590, GABA synthesis, release, reuptake and degradation |
Miscellaneous databases
BioGRID-ORCSi | 10815, 3 hits in 840 CRISPR screens |
GeneWikii | CPLX1 |
GenomeRNAii | 10815 |
Pharosi | O14810, Tbio |
PROi | PR:O14810 |
RNActi | O14810, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000168993, Expressed in lateral nuclear group of thalamus and 153 other tissues |
ExpressionAtlasi | O14810, baseline and differential |
Genevisiblei | O14810, HS |
Family and domain databases
InterProi | View protein in InterPro IPR008849, Synaphin |
PANTHERi | PTHR16705, PTHR16705, 1 hit |
Pfami | View protein in Pfam PF05835, Synaphin, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CPLX1_HUMAN | |
Accessioni | O14810Primary (citable) accession number: O14810 Secondary accession number(s): A6NI80 F1T0G1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 15, 1999 |
Last sequence update: | January 1, 1998 | |
Last modified: | December 2, 2020 | |
This is version 152 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 4
Human chromosome 4: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations