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FLASH GENE

Symbol

CPLX1

contributors: mct/npt/pgu - updated : 18-12-2018

HGNC name	complexin 1
HGNC id	2309

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	EIEE63 epileptic encephalopathy, early infantile, 63
Location	4p16.3      Physical location : 778.745 - 819.945
Synonym name	synaphin 2
	complexin I
Synonym symbol(s)	CLX1, CPX1, CPX-I

DNA

TYPE	functioning gene
STRUCTURE	41.20 kb     4 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006651 4 - 2200 NP_006642 14.9 134 - 2008 18240322

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain       moderately   nerve cranial nerve     highly Visual eye       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central       Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Nervous optic nerve

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	eye, lens, retina, optic nerve, choroid, RPE, anterior segment

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

highly charged protein, rich in Glu, Asp, Lys, Arg

HOMOLOGY

interspecies	homolog to rattus Cplx1 (97 pc)
	homolog to murine Cplx1 (96.3 pc)

Homologene

FAMILY

complexin/synaphin family

CATEGORY

regulatory , transport

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic,vesicle
text	enriched at synaptic-releasing sites in mature neurons
	localized in and/or around the acrosome

basic FUNCTION	SNARE regulatory protein, regulating positively a late step in synaptic vesicle exocytosis
	also involved in glucose-induced secretion of insulin by pancreatic beta-cells
	playing a necessary role for the acrosome reaction in sperm
	presynaptic protein that modulate neurotransmitter release and are used as markers of inhibitory synapses
	is required for faithful processing of sound onset and offset in the cochlear nucleus
	organizes the SNAREs into a zigzag topology that, when interposed between the vesicle and plasma membranes, is incompatible with fusion
	with SYT1, CPLX1 synchronizes and stimulates rapid fusion of accumulated docked vesicles in response to physiological Ca(2+) concentrations
	is a small, SNARE-associated protein believed to regulate fast, calcium-triggered exocytosis
	role of CPLX1 and CPLX2 in facilitating vesicle priming, suggesting that Cplxs may synchronize vesicle release by promoting coupling between secretory vesicles and calcium channels
	because both SNCA and CPLX1 modulate vesicle release, likely presynaptic dysfunction is an early event in Parkinson disease pathology
	CPLX1 utilizes distinct mechanisms for synchronization of Ca(2+)-triggered fusion and inhibition of spontaneous fusion
	small synaptic protein that cooperate with SNARE-complexes in the control of synaptic vesicle (SV) fusion
	presynaptic proteins CPLX1 and CPLX2 differentially influence cognitive function in early and late stages of Alzheimer disease
	CPLX1 generates a focused clamp for the neuronal SNARE complex in a linker-open conformation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

exocytosis transport

text	neurotransmitter transport

PATHWAY

metabolism

signaling

neurotransmission

late step in Ca2+-dependent neurotransmitter release regulating a step immediately preceding vesicle fusion

a component

component of exocytotic core complex

INTERACTION

DNA

RNA

small molecule

protein	binding to syntaxin within the SNAP receptor (SNARE) core complex
	CPLX1, CPLX2 facilitate and inhibit neurotransmitter release through distinct domains, and their function was proposed to be coupled to the Ca(2+) sensor synaptotagmin-1 (SYT1)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EIEE63

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   increases during synaptic maturation in dorsolateral prefrontal cortex and an increase in the influence of inhibitory synapses relative to that of excitatory synapses occurs during development in this cortical region

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS