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Aliases for CPLX1 Gene

Aliases for CPLX1 Gene

  • Complexin 1 2 3 5
  • Complexin I 3 4
  • CPX I 3 4
  • Complexin-1 3
  • Synaphin 2 3
  • Synaphin-2 4
  • CPX-I 3
  • CPX1 3

External Ids for CPLX1 Gene

Previous GeneCards Identifiers for CPLX1 Gene

  • GC04M000804
  • GC04M000769
  • GC04M000770
  • GC04M000771
  • GC04M000749

Summaries for CPLX1 Gene

Entrez Gene Summary for CPLX1 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]

GeneCards Summary for CPLX1 Gene

CPLX1 (Complexin 1) is a Protein Coding gene. Diseases associated with CPLX1 include Wolf-Hirschhorn Syndrome. Among its related pathways are Neurotransmitter Release Cycle and Neuroscience. GO annotations related to this gene include syntaxin binding and syntaxin-1 binding. An important paralog of this gene is CPLX2.

UniProtKB/Swiss-Prot for CPLX1 Gene

  • 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.

Gene Wiki entry for CPLX1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CPLX1 Gene

Genomics for CPLX1 Gene

Regulatory Elements for CPLX1 Gene

Enhancers for CPLX1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G000780 1.3 ENCODE dbSUPER 17.3 +44.1 44064 3.6 HDGF PKNOX1 FOXA2 CREB3L1 AGO1 WRNIP1 ARID4B SIN3A DMAP1 YY1 PCGF3 CRIPAK CPLX1 LOC100129917 LOC105374339
GH04G000791 1.3 Ensembl ENCODE dbSUPER 12.7 +33.9 33905 1.8 HDGF PKNOX1 RELB IKZF2 CREM CBFB USF2 TBX21 NR2F2 IKZF1 PCGF3 CPLX1 LOC105374339
GH04G000794 1.1 FANTOM5 ENCODE dbSUPER 12.7 +32.0 31974 0.2 PKNOX1 EED KLF4 PCGF3 CPLX1 LOC105374339
GH04G000784 0.8 dbSUPER 17.2 +41.5 41488 1.0 SOX13 DRAP1 TFAP4 FOXA2 SAP130 SUZ12 ARID4B CEBPG ZNF644 TEAD3 PCGF3 CPLX1 LOC100129917 LOC105374339
GH04G000795 0.9 FANTOM5 dbSUPER 13.4 +30.4 30408 0.2 KLF1 SMARCA4 POLR2A SUZ12 CBX2 ZBTB33 EZH2 CPLX1 LOC105374339
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CPLX1 on UCSC Golden Path with GeneCards custom track

Promoters for CPLX1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000164714 198 401 RB1 SAP130 SUZ12 ZMYM3 SIN3A E2F1 CREM EZH2 ZNF263 ZNF280D

Genomic Location for CPLX1 Gene

Chromosome:
4
Start:
784,957 bp from pter
End:
826,198 bp from pter
Size:
41,242 bases
Orientation:
Minus strand

Genomic View for CPLX1 Gene

Genes around CPLX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CPLX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CPLX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CPLX1 Gene

Proteins for CPLX1 Gene

  • Protein details for CPLX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14810-CPLX1_HUMAN
    Recommended name:
    Complexin-1
    Protein Accession:
    O14810
    Secondary Accessions:
    • A6NI80
    • B2R4R5
    • D3DVN3
    • F1T0G1

    Protein attributes for CPLX1 Gene

    Size:
    134 amino acids
    Molecular mass:
    15030 Da
    Quaternary structure:
    • Binds to the SNARE core complex containing SNAP25, VAMP2 and STX1A.

    Three dimensional structures from OCA and Proteopedia for CPLX1 Gene

neXtProt entry for CPLX1 Gene

Post-translational modifications for CPLX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CPLX1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CPLX1 (CPLX1)
  • Cloud-Clone Corp. Antibodies for CPLX1

No data available for DME Specific Peptides for CPLX1 Gene

Domains & Families for CPLX1 Gene

Protein Domains for CPLX1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CPLX1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O14810

UniProtKB/Swiss-Prot:

CPLX1_HUMAN :
  • Belongs to the complexin/synaphin family.
Family:
  • Belongs to the complexin/synaphin family.
genes like me logo Genes that share domains with CPLX1: view

No data available for Gene Families for CPLX1 Gene

Function for CPLX1 Gene

Molecular function for CPLX1 Gene

UniProtKB/Swiss-Prot Function:
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.

Gene Ontology (GO) - Molecular Function for CPLX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005326 neurotransmitter transporter activity IEA --
GO:0017075 syntaxin-1 binding IEA --
GO:0019905 syntaxin binding IEA --
genes like me logo Genes that share ontologies with CPLX1: view
genes like me logo Genes that share phenotypes with CPLX1: view

Human Phenotype Ontology for CPLX1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CPLX1 Gene

MGI Knock Outs for CPLX1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CPLX1 Gene

Localization for CPLX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CPLX1 Gene

Cytoplasm, cytosol. Note=Enriched at synaptic-releasing sites in mature neurons. {ECO:0000250 UniProtKB:P63040}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CPLX1 gene
Compartment Confidence
cytosol 5
nucleus 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CPLX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0030425 dendrite IEA --
GO:0031201 SNARE complex IEA --
GO:0043025 neuronal cell body IEA --
genes like me logo Genes that share ontologies with CPLX1: view

Pathways & Interactions for CPLX1 Gene

genes like me logo Genes that share pathways with CPLX1: view

Pathways by source for CPLX1 Gene

Gene Ontology (GO) - Biological Process for CPLX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006836 neurotransmitter transport IEA --
GO:0006887 exocytosis TAS 7553862
GO:0007268 chemical synaptic transmission TAS 7553862
GO:0007269 neurotransmitter secretion TAS --
genes like me logo Genes that share ontologies with CPLX1: view

No data available for SIGNOR curated interactions for CPLX1 Gene

Transcripts for CPLX1 Gene

Unigene Clusters for CPLX1 Gene

Complexin 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CPLX1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c
SP1: - -
SP2: - -
SP3: -
SP4:

Relevant External Links for CPLX1 Gene

GeneLoc Exon Structure for
CPLX1
ECgene alternative splicing isoforms for
CPLX1

Expression for CPLX1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CPLX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CPLX1 Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (x6.0), Brain - Cortex (x5.4), Brain - Frontal Cortex (BA9) (x5.3), Brain - Caudate (basal ganglia) (x4.3), and Brain - Anterior cingulate cortex (BA24) (x4.2).

Protein differential expression in normal tissues from HIPED for CPLX1 Gene

This gene is overexpressed in Frontal cortex (41.2) and Brain (17.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CPLX1 Gene



Protein tissue co-expression partners for CPLX1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CPLX1 Gene:

CPLX1

SOURCE GeneReport for Unigene cluster for CPLX1 Gene:

Hs.478930

mRNA Expression by UniProt/SwissProt for CPLX1 Gene:

O14810-CPLX1_HUMAN
Tissue specificity: Nervous system. In hippocampus and cerebellum, expressed mainly by inhibitory neurons. Overexpressed in substantia nigra from patients with Parkinson disease.

Evidence on tissue expression from TISSUES for CPLX1 Gene

  • Nervous system(4.8)
  • Eye(4.3)
genes like me logo Genes that share expression patterns with CPLX1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CPLX1 Gene

Orthologs for CPLX1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CPLX1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CPLX1 34
  • 94.03 (n)
oppossum
(Monodelphis domestica)
Mammalia CPLX1 35
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CPLX1 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CPLX1 34 35
  • 93.53 (n)
rat
(Rattus norvegicus)
Mammalia Cplx1 34
  • 88.31 (n)
mouse
(Mus musculus)
Mammalia Cplx1 34 16 35
  • 87.06 (n)
chicken
(Gallus gallus)
Aves CPLX1 35
  • 89 (a)
OneToOne
CPLX2 34
  • 79.85 (n)
lizard
(Anolis carolinensis)
Reptilia CPLX1 35
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cplx1 34
  • 72.68 (n)
zebrafish
(Danio rerio)
Actinopterygii CPLX1 (2 of 2) 35
  • 84 (a)
OneToMany
LOC563082 34
  • 82.46 (n)
cplx2l 35
  • 74 (a)
OneToMany
wufc97e10 34
Species where no ortholog for CPLX1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CPLX1 Gene

ENSEMBL:
Gene Tree for CPLX1 (if available)
TreeFam:
Gene Tree for CPLX1 (if available)

Paralogs for CPLX1 Gene

Paralogs for CPLX1 Gene

(1) SIMAP similar genes for CPLX1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with CPLX1: view

Variants for CPLX1 Gene

Sequence variations from dbSNP and Humsavar for CPLX1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs1000057244 -- 816,207(+) TTCTC(C/T)GTGAA intron-variant
rs1000080660 -- 810,346(+) GCCCG(G/T)CCTTG intron-variant
rs1000094746 -- 810,240(+) GAGAC(A/G)GGGTT intron-variant
rs1000118786 -- 797,234(+) GTTGT(C/T)TGTTT intron-variant
rs1000123879 -- 792,719(+) ATCCA(C/T)TCGAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CPLX1 Gene

Variant ID Type Subtype PubMed ID
dgv2700n106 CNV deletion 24896259
dgv8879n54 CNV loss 21841781
esv2354094 CNV deletion 18987734
esv2661833 CNV deletion 23128226
esv2726709 CNV deletion 23290073
esv2726710 CNV deletion 23290073
esv2726711 CNV deletion 23290073
esv2726712 CNV deletion 23290073
esv2726713 CNV deletion 23290073
esv2759217 CNV loss 17122850
esv32803 CNV gain 17666407
esv3350824 CNV duplication 20981092
esv3569240 CNV loss 25503493
esv3569241 CNV loss 25503493
esv3569242 CNV loss 25503493
esv3575660 CNV gain 25503493
esv3599381 CNV gain 21293372
esv990610 CNV deletion 20482838
esv996415 CNV deletion 20482838
nsv1003219 CNV gain 25217958
nsv1008352 CNV gain 25217958
nsv10419 CNV loss 18304495
nsv1073713 CNV deletion 25765185
nsv1111263 CNV tandem duplication 24896259
nsv1142595 CNV deletion 24896259
nsv461147 CNV loss 19166990
nsv469998 CNV loss 18288195
nsv515844 CNV loss 19592680
nsv520136 CNV gain 19592680
nsv521402 CNV loss 19592680
nsv526780 CNV loss 19592680
nsv593223 CNV loss 21841781
nsv818207 CNV gain 17921354
nsv822425 CNV loss 20364138
nsv822427 CNV gain 20364138
nsv950325 CNV deletion 24416366
nsv950326 CNV deletion 24416366

Variation tolerance for CPLX1 Gene

Residual Variation Intolerance Score: 27.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.54; 11.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CPLX1 Gene

Human Gene Mutation Database (HGMD)
CPLX1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CPLX1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CPLX1 Gene

Disorders for CPLX1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CPLX1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
wolf-hirschhorn syndrome
  • 4p deletion syndrome
- elite association - COSMIC cancer census association via MalaCards
Search CPLX1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CPLX1

Genetic Association Database (GAD)
CPLX1
Human Genome Epidemiology (HuGE) Navigator
CPLX1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CPLX1
genes like me logo Genes that share disorders with CPLX1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CPLX1 Gene

Publications for CPLX1 Gene

  1. No association of complexin1 and complexin2 genes with schizophrenia in a Japanese population. (PMID: 16442780) Kishi T. … Iwata N. (Schizophr. Res. 2006) 3 22 46 64
  2. Complexins: cytosolic proteins that regulate SNAP receptor function. (PMID: 7553862) McMahon H.T. … Suedhof T.C. (Cell 1995) 2 3 4 64
  3. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. (PMID: 24722188) Corominas R. … Iakoucheva L.M. (Nat. Commun. 2014) 3 4 64
  4. Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. (PMID: 21697133) Oshikawa M. … Kato S. (Invest. Ophthalmol. Vis. Sci. 2011) 3 4 64
  5. Complexin cross-links prefusion SNAREs into a zigzag array. (PMID: 21785414) Kummel D. … Reinisch K.M. (Nat. Struct. Mol. Biol. 2011) 3 4 64

Products for CPLX1 Gene

Sources for CPLX1 Gene

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