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CPLX1 complexin 1 [ Homo sapiens (human) ]

Gene ID: 10815, updated on 5-Jul-2025
Official Symbol
CPLX1provided by HGNC
Official Full Name
complexin 1provided by HGNC
Primary source
HGNC:HGNC:2309
See related
Ensembl:ENSG00000168993 MIM:605032; AllianceGenome:HGNC:2309
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CPX1; CPX-I; DEE63; EIEE63
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 disrupts it, allowing transmitter release. [provided by RefSeq, Jul 2008]
Expression
Biased expression in brain (RPKM 19.8), fat (RPKM 3.8) and 5 other tissues See more
Orthologs
mouse all
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See CPLX1 in Genome Data Viewer
Location:
4p16.3
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (784957..826129, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (782738..823932, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (778745..819917, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene polycomb group ring finger 3 Neighboring gene uncharacterized LOC124900644 Neighboring gene chloride intracellular channel protein 6-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:759135-759682 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21134 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:762535-763476 Neighboring gene PCGF3 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:774752-775469 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:775470-776186 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:776187-776904 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:778899-779770 Neighboring gene uncharacterized LOC105374339 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:781743-782244 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:782245-782744 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:783251-783750 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:784983-785792 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15110 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21135 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21136 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21137 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:793259-793758 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15111 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:823745-824262 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:824263-824778 Neighboring gene uncharacterized LOC105374340 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:860125-861324 Neighboring gene uncharacterized LOC105374341 Neighboring gene cyclin G associated kinase

Go to nucleotide: Graphics FASTA GenBank

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Related articles in PubMed

  1. A clamping mechanism involved in SNARE-dependent exocytosis. Giraudo CG, et al. Science, 2006 Aug 4. PMID 16794037
  2. Proteome analysis of human substantia nigra in Parkinson's disease. Basso M, et al. Proteomics, 2004 Dec. PMID 15526345
  3. Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID. Redler S, et al. Eur J Hum Genet, 2017 Jun. PMID 28422131, Free PMC Article
  4. Re-visiting the trans insertion model for complexin clamping. Krishnakumar SS, et al. Elife, 2015 Apr 2. PMID 25831964, Free PMC Article
  5. Complexins: small but capable. Mohrmann R, et al. Cell Mol Life Sci, 2015 Nov. PMID 26245303, Free PMC Article

See all (42) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Synergistic roles of Synaptotagmin-1 and complexin in calcium-regulated neuronal exocytosis.
    Title: Synergistic roles of Synaptotagmin-1 and complexin in calcium-regulated neuronal exocytosis.
  2. Findings do not support microRNA137 (MIR137) and complexin 1 (CPLX1) conferring susceptibility to schizophrenia in Han Chinese.
    Title: Genetic association analysis of microRNA137 and its target complex 1 with schizophrenia in Han Chinese.
  3. data define CPLX1 as a PD risk factor and provide functional insights into the role and regulation of blood SNCA levels. The new blood biomarkers of PARK4 in this Turkish family might become useful for PD prediction
    Title: Blood RNA biomarkers in prodromal PARK4 and rapid eye movement sleep behavior disorder show role of complexin 1 loss for risk of Parkinson's disease.
  4. Homozygous CPLX1 variants were identified in three patients with severe infantile myoclonic epilepsy and ID.
    Title: Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID.
  5. This study demonstrated that complexin-I influence cognitive function in early and late stages of Alzheimer's disease.
    Title: Presynaptic proteins complexin-I and complexin-II differentially influence cognitive function in early and late stages of Alzheimer's disease.
  6. Study showed for the first time that neuro-Behcet's disease and Behcet's disease patients are inclined to display the GG genotype of the CPLX1 rs936551 polymorphism and to exhibit increased CPLX1 expression levels
    Title: Increased complexin-1 and decreased miR-185 expression levels in Behçet's disease with and without neurological involvement.
  7. Collectively these results demonstrate that CPX-1 is a secreted collagen-binding glycoprotein and provide a foundation for future studies investigating the function of CPX-1.
    Title: Carboxypeptidase X-1 (CPX-1) is a secreted collagen-binding glycoprotein.
  8. Studies indicate the role of the small regulatory factor complexin in Ca(2+)-dependent vesicle fusion and exocytosis.
    Title: Complexins: small but capable.
  9. Data support the the trans insertion model for complexin clamping.
    Title: Re-visiting the trans insertion model for complexin clamping.
  10. Together with synaptotagmin 1, complexin synchronizes and stimulates rapid fusion of accumulated docked vesicles in response to physiological Ca(2+) concentrations.
    Title: Complexin arrests a pool of docked vesicles for fast Ca2+-dependent release.
Submit: New GeneRIF Correction See all GeneRIFs (18)

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
4p partial monosomy syndrome
MedGen: C1956097 OMIM: 194190 GeneReviews: Not available
Compare labs
Developmental and epileptic encephalopathy, 63
MedGen: C4693810 OMIM: 617976 GeneReviews: Not available
Compare labs

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables SNARE binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables SNARE binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables syntaxin binding IEA
Inferred from Electronic Annotation
more info
  
enables syntaxin-1 binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in chemical synaptic transmission TAS
Traceable Author Statement
more info
 PubMed 
involved_in exocytosis IEA
Inferred from Electronic Annotation
more info
  
involved_in exocytosis TAS
Traceable Author Statement
more info
 PubMed 
involved_in insulin secretion IEA
Inferred from Electronic Annotation
more info
  
involved_in modulation of chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in neurotransmitter transport IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of exocytic insertion of neurotransmitter receptor to postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of exocytosis IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of exocytosis TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of synaptic vesicle fusion to presynaptic active zone membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of synaptic vesicle fusion to presynaptic active zone membrane IEA
Inferred from Electronic Annotation
more info
  
involved_in synaptic vesicle exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in synaptic vesicle exocytosis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of SNARE complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of SNARE complex IEA
Inferred from Electronic Annotation
more info
  
is_active_in Schaffer collateral - CA1 synapse IEA
Inferred from Electronic Annotation
more info
  
is_active_in calyx of Held IEA
Inferred from Electronic Annotation
more info
  
located_in cell projection IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in dendrite IEA
Inferred from Electronic Annotation
more info
  
is_active_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
  
located_in neuronal cell body IEA
Inferred from Electronic Annotation
more info
  
located_in perikaryon IEA
Inferred from Electronic Annotation
more info
  
is_active_in postsynapse IEA
Inferred from Electronic Annotation
more info
  
is_active_in presynapse IEA
Inferred from Electronic Annotation
more info
  
located_in presynapse IEA
Inferred from Electronic Annotation
more info
  
part_of protein-containing complex IEA
Inferred from Electronic Annotation
more info
  
located_in synapse IEA
Inferred from Electronic Annotation
more info
  
part_of synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex IEA
Inferred from Electronic Annotation
more info
  
part_of synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex IEA
Inferred from Electronic Annotation
more info
  
part_of synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex TAS
Traceable Author Statement
more info
 PubMed 
is_active_in terminal bouton IBA
Inferred from Biological aspect of Ancestor
more info
  
Preferred Names
complexin-1
Names
CPX I
complexin I
synaphin 2

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_006651.4 → NP_006642.1  complexin-1

    See identical proteins and their annotated locations for NP_006642.1

    Status: REVIEWED

    Source sequence(s)
    AC139887
    Consensus CDS
    CCDS46995.1
    UniProtKB/Swiss-Prot
    A6NI80, B2R4R5, D3DVN3, F1T0G1, O14810
    UniProtKB/TrEMBL
    D6RAG3
    Related
    ENSP00000305613.6, ENST00000304062.11
    Conserved Domains (1) summary
    pfam05835
    Location:1 → 133
    Synaphin; Synaphin protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    784957..826129 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513391.2 → XP_011511693.1  complexin-1 isoform X1

    UniProtKB/TrEMBL
    D6RAG3
    Related
    ENSP00000421947.1, ENST00000504062.1
    Conserved Domains (1) summary
    pfam05835
    Location:1 → 118
    Synaphin; Synaphin protein

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    782738..823932 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054348798.1 → XP_054204773.1  complexin-1 isoform X1

    UniProtKB/TrEMBL
    D6RAG3
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O14810.1 GenPept UniProtKB/Swiss-Prot:O14810

Gene LinkOut

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