CPLX1
Complexin-1
Also known as: CPLX1_HUMAN, CPX-I
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O14810
- Gene
- CPLX1
- Ensembl
- ENSG00000168993
- Chromosome
- 4
- Canonical length
- 134 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Vesicles
OverviewNCBI Gene
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 disrupts it, allowing transmitter release. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
134 residues, UniProt reviewed canonical sequence.
>O14810|CPLX1
1 MEFVMKQALG GATKDMGKML GGDEEKDPDA AKKEEERQEA LRQAEEERKA KYAKMEAERE
61 AVRQGIRDKY GIKKKEEREA EAQAAMEANS EGSLTRPKKA IPPGCGDEVE EEDESILDTV
121 IKYLPGPLQD MLKKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CPLX1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.56
- Highest tissue expression
- 231 nTPM
Expression across tissuesHPA
Tissue
- cerebral cortex: 231 nTPM
- basal ganglia: 200 nTPM
- cerebellum: 151 nTPM
- hippocampal formation: 86 nTPM
- amygdala: 76 nTPM
- midbrain: 72 nTPM
Single-cell type
- retinal ganglion cells: 151 nCPM
- brain inhibitory neurons: 89 nCPM
- retinal amacrine cells: 68 nCPM
- brain excitatory neurons: 64 nCPM
- neuroendocrine cells: 45 nCPM
- vascular endothelial cells: 43 nCPM
Immune cell
- plasmacytoid DC: 0.3 nTPM
- MAIT T-cell: 0.1 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
Brain region
- cerebral cortex: 773 nTPM
- pons: 488 nTPM
- thalamus: 464 nTPM
- medulla oblongata: 425 nTPM
- white matter: 384 nTPM
- hypothalamus: 342 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CPLX1.
Disease | AllUniProt
Conditions CPLX1 is implicated in, by any mechanism.
- Developmental and epileptic encephalopathy 63 (DEE63) MIM:617976
Disease | GeneticClinVar
3 pathogenic / likely-pathogenic of 88 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Developmental and epileptic encephalopathy, 63
- Abnormal brain morphology
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.52
- gnomAD pLI
- 0.82
- gnomAD missense Z
- -0.35
- DepMap mean gene effect
- 0.06
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- chemical synaptic transmission
- exocytosis
- insulin secretion
- modulation of chemical synaptic transmission
- regulation of exocytosis
- regulation of synaptic vesicle fusion to presynaptic active zone membrane
- synaptic vesicle exocytosis
- regulation of exocytic insertion of neurotransmitter receptor to postsynaptic membrane
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CPLX1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CPLX1 as an antibody target. Whether an autoantibody or antibody against CPLX1 could matter depends on whether native CPLX1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CPLX1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label CPLX1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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