Human Gene CPLX1 (ENST00000304062.11_7) from GENCODE V47lift37
  Description: complexin 1 (from RefSeq NM_006651.4)
Gencode Transcript: ENST00000304062.11_7
Gencode Gene: ENSG00000168993.15_10
Transcript (Including UTRs)
   Position: hg19 chr4:778,745-819,917 Size: 41,173 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr4:780,289-818,310 Size: 38,022 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:778,745-819,917)mRNA (may differ from genome)Protein (134 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CPLX1_HUMAN
DESCRIPTION: RecName: Full=Complexin-1; AltName: Full=Complexin I; Short=CPX I; AltName: Full=Synaphin-2;
FUNCTION: Positively regulates a late step in synaptic vesicle exocytosis. 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. Also involved in glucose-induced secretion of insulin by pancreatic beta-cells (By similarity).
SUBUNIT: Binds to the SNARE core complex containing SNAP25, VAMP2 and STX1A.
SUBCELLULAR LOCATION: Cytoplasm, cytosol (By similarity). Note=Enriched at synaptic-releasing sites in mature neurons (By similarity).
TISSUE SPECIFICITY: Nervous system. In hippocampus and cerebellum, expressed mainly by inhibitory neurons. Overexpressed in substantia nigra from patients with Parkinson disease.
SIMILARITY: Belongs to the complexin/synaphin family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 137.20 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 1230.54 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -56.10163-0.344 Picture PostScript Text
3' UTR -657.301544-0.426 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008849 - Synaphin

Pfam Domains:
PF05835 - Synaphin protein

SCOP Domains:
58038 - SNARE fusion complex

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3RK3 - X-ray MuPIT 3RL0 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on O14810
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000149 SNARE binding
GO:0005326 neurotransmitter transporter activity
GO:0005515 protein binding
GO:0017075 syntaxin-1 binding
GO:0019905 syntaxin binding

Biological Process:
GO:0006836 neurotransmitter transport
GO:0006887 exocytosis
GO:0007268 chemical synaptic transmission
GO:0016079 synaptic vesicle exocytosis
GO:0017157 regulation of exocytosis
GO:0030073 insulin secretion

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0030425 dendrite
GO:0031201 SNARE complex
GO:0032991 macromolecular complex
GO:0043025 neuronal cell body
GO:0045202 synapse
GO:0070032 synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex
GO:0070554 synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex
GO:0098793 presynapse


-  Descriptions from all associated GenBank mRNAs
  AB593095 - Homo sapiens CPLX1 mRNA for complexin-1, complete cds, clone: HP06406-RBb63D03.
BC002471 - Homo sapiens complexin 1, mRNA (cDNA clone MGC:3097 IMAGE:3349779), complete cds.
AK126578 - Homo sapiens cDNA FLJ44615 fis, clone BRACE2012838, moderately similar to Complexin 1.
AF022383 - Homo sapiens complexin I mRNA, complete cds.
BT007029 - Homo sapiens complexin 1 mRNA, complete cds.
AK311921 - Homo sapiens cDNA, FLJ92188, Homo sapiens complexin 1 (CPLX1), mRNA.
KJ893142 - Synthetic construct Homo sapiens clone ccsbBroadEn_02536 CPLX1 gene, encodes complete protein.
KJ534815 - Homo sapiens clone CPLX1_iso-A_adult-A01 complexin 1 isoform A (CPLX1) mRNA, partial cds, alternatively spliced.
JD227955 - Sequence 208979 from Patent EP1572962.
JD227214 - Sequence 208238 from Patent EP1572962.
JD557904 - Sequence 538928 from Patent EP1572962.
JD290140 - Sequence 271164 from Patent EP1572962.
JD398310 - Sequence 379334 from Patent EP1572962.
JD205823 - Sequence 186847 from Patent EP1572962.
JD039778 - Sequence 20802 from Patent EP1572962.
JD192463 - Sequence 173487 from Patent EP1572962.
JD393409 - Sequence 374433 from Patent EP1572962.
JD166912 - Sequence 147936 from Patent EP1572962.
JD408422 - Sequence 389446 from Patent EP1572962.
JD474722 - Sequence 455746 from Patent EP1572962.
JD391702 - Sequence 372726 from Patent EP1572962.
JD320862 - Sequence 301886 from Patent EP1572962.
JD508305 - Sequence 489329 from Patent EP1572962.
JD100508 - Sequence 81532 from Patent EP1572962.
JD443167 - Sequence 424191 from Patent EP1572962.
JD191252 - Sequence 172276 from Patent EP1572962.
JD442593 - Sequence 423617 from Patent EP1572962.
JD264376 - Sequence 245400 from Patent EP1572962.
JD260184 - Sequence 241208 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O14810 (Reactome details) participates in the following event(s):

R-HSA-210426 Glutamate synaptic vesicle docking and priming
R-HSA-372505 Acetylcholine synaptic vesicle docking and priming
R-HSA-374922 Noradrenalin synaptic vesicle docking and priming
R-HSA-380574 Dopamine synaptic vesicle docking and priming
R-HSA-380905 Serotonin loaded synaptic vesicle docking and priming
R-HSA-917744 GABA loaded synaptic vesicle Docking and Priming
R-HSA-210430 release of L-Glutamate at the synapse
R-HSA-372529 Release of acetylcholine at the synapse
R-HSA-374899 Release of noradrenaline at the synapse
R-HSA-380869 Release of docked dopamine loaded synaptic vesicle
R-HSA-380901 Release of docked serotonin loaded synaptic vesicle
R-HSA-888589 Release of GABA at the synapse
R-HSA-210500 Glutamate Neurotransmitter Release Cycle
R-HSA-264642 Acetylcholine Neurotransmitter Release Cycle
R-HSA-181430 Norepinephrine Neurotransmitter Release Cycle
R-HSA-212676 Dopamine Neurotransmitter Release Cycle
R-HSA-181429 Serotonin Neurotransmitter Release Cycle
R-HSA-888590 GABA synthesis, release, reuptake and degradation
R-HSA-112310 Neurotransmitter release cycle
R-HSA-112315 Transmission across Chemical Synapses
R-HSA-112316 Neuronal System

-  Other Names for This Gene
  Alternate Gene Symbols: A6NI80, B2R4R5, CPLX1_HUMAN, D3DVN3, ENST00000304062.1, ENST00000304062.10, ENST00000304062.2, ENST00000304062.3, ENST00000304062.4, ENST00000304062.5, ENST00000304062.6, ENST00000304062.7, ENST00000304062.8, ENST00000304062.9, F1T0G1, NM_006651, O14810, uc317nix.1, uc317nix.2
UCSC ID: ENST00000304062.11_7
RefSeq Accession: NM_006651.4
Protein: O14810 (aka CPLX1_HUMAN or CLX1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.