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Protein

Complexin-1

Gene

CPLX1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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 transporter activity Source: Ensembl
  • SNARE binding Source: GO_Central
  • syntaxin-1 binding Source: Ensembl

GO - Biological processi

Keywordsi

Biological processExocytosis, Neurotransmitter transport, Transport

Enzyme and pathway databases

ReactomeiR-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-1
Alternative name(s):
Complexin I
Short name:
CPX I
Synaphin-2
Gene namesi
Name:CPLX1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000168993.14
HGNCiHGNC:2309 CPLX1
MIMi605032 gene
neXtProtiNX_O14810

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & 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.
See also OMIM:617976
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080795105 – 134Missing in EIEE63. 1 PublicationAdd BLAST30
Natural variantiVAR_080796108 – 134Missing in EIEE63. 1 PublicationAdd BLAST27
Natural variantiVAR_080797128L → M in EIEE63; unknown pathological significance. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi10815
MalaCardsiCPLX1
MIMi617976 phenotype
OpenTargetsiENSG00000168993
Orphaneti352582 Familial infantile myoclonic epilepsy
PharmGKBiPA26826

Polymorphism and mutation databases

BioMutaiCPLX1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001448701 – 134Complexin-1Add BLAST134

Proteomic databases

EPDiO14810
MaxQBiO14810
PaxDbiO14810
PeptideAtlasiO14810
PRIDEiO14810
ProteomicsDBi48251

PTM databases

iPTMnetiO14810
PhosphoSitePlusiO14810

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

BgeeiENSG00000168993 Expressed in 137 organ(s), highest expression level in lateral nuclear group of thalamus
CleanExiHS_CPLX1
ExpressionAtlasiO14810 baseline and differential
GenevisibleiO14810 HS

Organism-specific databases

HPAiHPA071191

Interactioni

Subunit structurei

Binds to the SNARE core complex containing SNAP25, VAMP2 and STX1A.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
SNAP25P60880-26EBI-2691813,EBI-12177361

GO - Molecular functioni

Protein-protein interaction databases

BioGridi116028, 37 interactors
CORUMiO14810
DIPiDIP-56109N
IntActiO14810, 5 interactors
STRINGi9606.ENSP00000305613

Structurei

Secondary structure

1134
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliO14810
SMRiO14810
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni48 – 70Interaction with the SNARE complexBy similarityAdd BLAST23

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili29 – 69Sequence analysisAdd BLAST41

Sequence similaritiesi

Belongs to the complexin/synaphin family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IWGS Eukaryota
ENOG4111MX0 LUCA
GeneTreeiENSGT00490000043416
HOGENOMiHOG000017716
HOVERGENiHBG062792
InParanoidiO14810
KOiK15294
OMAiTVMKFIP
OrthoDBiEOG091G0WGX
PhylomeDBiO14810
TreeFamiTF315172

Family and domain databases

InterProiView protein in InterPro
IPR008849 Synaphin
PANTHERiPTHR16705 PTHR16705, 1 hit
PfamiView protein in Pfam
PF05835 Synaphin, 1 hit

Sequence (1+)i

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
« Hide
        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
Length:134
Mass (Da):15,030
Last modified:January 1, 1998 - v1
Checksum:iA7A52F17F10D28A4
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RAG3D6RAG3_HUMAN
Complexin-1
CPLX1
110Annotation score:
D6RI11D6RI11_HUMAN
Complexin-1
CPLX1
113Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080795105 – 134Missing in EIEE63. 1 PublicationAdd BLAST30
Natural variantiVAR_080796108 – 134Missing in EIEE63. 1 PublicationAdd BLAST27
Natural variantiVAR_080797128L → M in EIEE63; unknown pathological significance. 1 Publication1

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
CCDSiCCDS46995.1
RefSeqiNP_006642.1, NM_006651.3
UniGeneiHs.478930

Genome annotation databases

EnsembliENST00000304062; ENSP00000305613; ENSG00000168993
GeneIDi10815
KEGGihsa:10815
UCSCiuc003gbi.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
CCDSiCCDS46995.1
RefSeqiNP_006642.1, NM_006651.3
UniGeneiHs.478930

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3RK3X-ray3.50E26-83[»]
3RL0X-ray3.80g/h/i/j/k/l/m/n26-83[»]
ProteinModelPortaliO14810
SMRiO14810
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116028, 37 interactors
CORUMiO14810
DIPiDIP-56109N
IntActiO14810, 5 interactors
STRINGi9606.ENSP00000305613

PTM databases

iPTMnetiO14810
PhosphoSitePlusiO14810

Polymorphism and mutation databases

BioMutaiCPLX1

Proteomic databases

EPDiO14810
MaxQBiO14810
PaxDbiO14810
PeptideAtlasiO14810
PRIDEiO14810
ProteomicsDBi48251

Protocols and materials databases

DNASUi10815
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000304062; ENSP00000305613; ENSG00000168993
GeneIDi10815
KEGGihsa:10815
UCSCiuc003gbi.4 human

Organism-specific databases

CTDi10815
DisGeNETi10815
EuPathDBiHostDB:ENSG00000168993.14
GeneCardsiCPLX1
HGNCiHGNC:2309 CPLX1
HPAiHPA071191
MalaCardsiCPLX1
MIMi605032 gene
617976 phenotype
neXtProtiNX_O14810
OpenTargetsiENSG00000168993
Orphaneti352582 Familial infantile myoclonic epilepsy
PharmGKBiPA26826
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IWGS Eukaryota
ENOG4111MX0 LUCA
GeneTreeiENSGT00490000043416
HOGENOMiHOG000017716
HOVERGENiHBG062792
InParanoidiO14810
KOiK15294
OMAiTVMKFIP
OrthoDBiEOG091G0WGX
PhylomeDBiO14810
TreeFamiTF315172

Enzyme and pathway databases

ReactomeiR-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

ChiTaRSiCPLX1 human
GeneWikiiCPLX1
GenomeRNAii10815
PROiPR:O14810
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000168993 Expressed in 137 organ(s), highest expression level in lateral nuclear group of thalamus
CleanExiHS_CPLX1
ExpressionAtlasiO14810 baseline and differential
GenevisibleiO14810 HS

Family and domain databases

InterProiView protein in InterPro
IPR008849 Synaphin
PANTHERiPTHR16705 PTHR16705, 1 hit
PfamiView protein in Pfam
PF05835 Synaphin, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCPLX1_HUMAN
AccessioniPrimary (citable) accession number: O14810
Secondary accession number(s): A6NI80
, B2R4R5, D3DVN3, F1T0G1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: January 1, 1998
Last modified: November 7, 2018
This is version 135 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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