CPLX1 complexin 1 [Homo sapiens (human)] - Gene

Summary

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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Genomic context

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_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
Studies indicate the role of the small regulatory factor complexin in Ca(2+)-dependent vesicle fusion and exocytosis.
Title: Complexins: small but capable.
Data support the the trans insertion model for complexin clamping.
Title: Re-visiting the trans insertion model for complexin clamping.
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)

Phenotypes

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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH78792 (e-PCR)
- UniSTS:67922

RH18288 (e-PCR)
- UniSTS:41332

D4S1270 (e-PCR)
- UniSTS:67705

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables SNARE binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables syntaxin 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	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 regulation of exocytic insertion of neurotransmitter receptor to postsynaptic membrane	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 synaptic vesicle exocytosis	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of SNARE complex	IBA Inferred from Biological aspect of Ancestor more info
located_in Schaffer collateral - CA1 synapse	IEA Inferred from Electronic Annotation more info
located_in calyx of Held	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in perikaryon	IEA Inferred from Electronic Annotation more info
located_in postsynapse	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

General protein information

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Preferred Names: complexin-1

Names: CPX I; complexin I; synaphin 2

NCBI Reference Sequences (RefSeq)

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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)

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

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

784957..826129 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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