CPLX1 (complexin 1)

2016-10-01 Affiliation

Identity

HGNC

CPLX1

LOCATION

4p16.3

LOCUSID

10815

ALIAS

CPX-I,CPX1,DEE63,EIEE63

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 10815
MIM: 605032
HGNC: 2309
Ensembl: ENSG00000168993

Variants:

dbSNP: 10815
ClinVar: 10815
TCGA: ENSG00000168993
COSMIC: CPLX1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000168993	ENST00000304062	O14810
ENSG00000168993	ENST00000504062	D6RAG3
ENSG00000168993	ENST00000505203	D6RI11

Expression (GTEx)

100

150

200

250

300

350

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Synaptic vesicle cycle	KEGG	ko04721
Synaptic vesicle cycle	KEGG	hsa04721
Neuronal System	REACTOME	R-HSA-112316
Transmission across Chemical Synapses	REACTOME	R-HSA-112315
Neurotransmitter Release Cycle	REACTOME	R-HSA-112310
Norepinephrine Neurotransmitter Release Cycle	REACTOME	R-HSA-181430
Serotonin Neurotransmitter Release Cycle	REACTOME	R-HSA-181429
Glutamate Neurotransmitter Release Cycle	REACTOME	R-HSA-210500
Dopamine Neurotransmitter Release Cycle	REACTOME	R-HSA-212676
Acetylcholine Neurotransmitter Release Cycle	REACTOME	R-HSA-264642
GABA synthesis, release, reuptake and degradation	REACTOME	R-HSA-888590

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
32401194	2020	Synergistic roles of Synaptotagmin-1 and complexin in calcium-regulated neuronal exocytosis.	22
32401194	2020	Synergistic roles of Synaptotagmin-1 and complexin in calcium-regulated neuronal exocytosis.	22
27866231	2017	Presynaptic proteins complexin-I and complexin-II differentially influence cognitive function in early and late stages of Alzheimer's disease.	21
28108469	2017	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.	12
28422131	2017	Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID.	18
29118371	2017	Genetic association analysis of microRNA137 and its target complex 1 with schizophrenia in Han Chinese.	2
27866231	2017	Presynaptic proteins complexin-I and complexin-II differentially influence cognitive function in early and late stages of Alzheimer's disease.	21
28108469	2017	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.	12
28422131	2017	Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID.	18
29118371	2017	Genetic association analysis of microRNA137 and its target complex 1 with schizophrenia in Han Chinese.	2
26577184	2016	Increased complexin-1 and decreased miR-185 expression levels in Behçet's disease with and without neurological involvement.	4
26577184	2016	Increased complexin-1 and decreased miR-185 expression levels in Behçet's disease with and without neurological involvement.	4
25831964	2015	Re-visiting the trans insertion model for complexin clamping.	24
26245303	2015	Complexins: small but capable.	34
26603934	2015	Carboxypeptidase X-1 (CPX-1) is a secreted collagen-binding glycoprotein.	11

Citation

Dessen P

CPLX1 (complexin 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56183/favicon/gene-fusions/?id=56183