CPLX1
entrez
10815
canonical
uniprot
O14810
canonical
ensembl
ENSG00000168993
resolver
ensp
ENSP00000305613
resolver
ensp
ENSP00000421947
resolver
ensp
ENSP00000562322
resolver
ensp
ENSP00000562323
resolver
ensp
ENSP00000562324
resolver
ensp
ENSP00000562325
resolver
ensp
ENSP00000562326
resolver
ensp
ENSP00000614821
resolver
enst
ENST00000304062
resolver
enst
ENST00000892263
resolver
enst
ENST00000892264
resolver
enst
ENST00000892265
resolver
enst
ENST00000892266
resolver
enst
ENST00000892267
resolver
enst
ENST00000944762
resolver
genesymbol
CPLX1
resolver
hgnc
HGNC:2309
resolver
uniprot
A6NI80
resolver
uniprot
B2R4R5
resolver
uniprot
D3DVN3
resolver
uniprot
F1T0G1
resolver
uniprot_entry
CPLX1_HUMAN
resolver
uniprot_sec
A6NI80
resolver
uniprot_sec
B2R4R5
resolver
uniprot_sec
D3DVN3
resolver
uniprot_sec
F1T0G1
resolver
amino_acid_sequence
MEFVMKQALGGATKDMGKMLGGDEEKDPDAAKKEEERQEALRQAEEERKAKYAKMEAEREAVRQGIRDKYGIKKKEEREAEAQAAMEANSEGSLTRPKKAIPPGCGDEVEEEDESILDTVIKYLPGPLQDMLKK
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 63 (DEE63) [MIM:617976]: A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE63 is an autosomal recessive disease with onset in infancy. {ECO:0000269|PubMed:26539891, ECO:0000269|PubMed:28422131}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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. {ECO:0000250|UniProtKB:P63040, ECO:0000269|PubMed:21785414}.
uniprot
proteins
mass_dalton
15030
uniprot
proteins
protein_family
Complexin/synaphin family
uniprot
proteins
pubmed
11483314
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15526345
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
21697133
uniprot
proteins
pubmed
21785414
uniprot
proteins
pubmed
24722188
uniprot
proteins
pubmed
26539891
uniprot
proteins
pubmed
28422131
uniprot
proteins
pubmed
7553862
uniprot
proteins
pubmed
9853440
uniprot
proteins
sequence_length
134
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250|UniProtKB:P63040}. Perikaryon {ECO:0000250|UniProtKB:P63040}. Presynapse {ECO:0000250|UniProtKB:P63040}. Note=Enriched at synaptic-releasing sites in mature neurons. {ECO:0000250|UniProtKB:P63040}.
uniprot
proteins