CPLX1 - complexin 1 Gene

Also Known as CPX1; CPX-I; DEE63; EIEE63

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10815

About CPLX1

Cytogenetic location: 4p16.3 Genomic coordinates (GRCh38): 4:784,957-826,129 (from NCBI)

This gene has 4 transcripts (splice variants), 115 orthologues, 3 paralogues and is associated with 4 phenotypes. Biased expression in brain (RPKM 19.8), fat (RPKM 3.8) and 5 other tissues.

Summary

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]

CPLX1 Products (1)

mRNA Protein Name
NM_006651.4 NP_006642.1 complexin-1
Molecular Function GO Annotation Evidence Références Source
enables protein binding IPI
IPI: Inferred from physical interaction
21785412 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CPLX1 Protein Structure

Synaphin

Synaphin: Synaphin protein (1 - 134)

  • 0
  • 100
  • 134 a.a.
Protein Preferred Names Protein Names

complexin-1

  • CPX I

CPLX1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
Intra
CPLX1 O14810 SNAP25 Homo sapiens P60880-2 21785412
Intra
CPLX1 O14810 SNAP25 Homo sapiens P60880-2 21785414
Intra
CPLX1 O14810 SNAP25 Homo sapiens P60880-2 21785414
Intra
CPLX1 O14810 SNAP25 Homo sapiens P60880-2
GMS
21785412
Intra
CPLX1 O14810 SNAP25 Homo sapiens P60880-2
GMS
21785414
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Developmental And Epileptic Encephalopathy 63
  • DEE63

  • Epileptic Encephalopathy, Early Infantile, 63

  • Eiee63

  • Developmental And Epileptic Encephalopathy, 63

  • Early Infantile Epileptic Encephalopathy 63

  • Encephalopathy, Epileptic, Early Infantile, Type 63

Myoclonic Epilepsy, Familial Infantile
  • Familial Infantile Myoclonic Epilepsy

  • FIME

  • Eim

  • Myoclonic Epilepsy, Infantile, Familial

  • Familial Infantile Myoclonus Epilepsy

  • Epilepsy, Myoclonic, Infantile, Familial

  • Epilepsy, Myoclonic, Infantile

Chromosome 4p Deletion
  • 4p Partial Monosomy Syndrome

  • Chromosome 4 Short Arm Deletion

  • 4p Deletion

  • 4p Monosomy

  • Deletion 4p

  • Monosomy 4p

  • Partial Monosomy 4p

  • Wolf-Hirschhorn Syndrome

  • Chromosome 4 Short Arm Deletion Syndrome

  • Deletion Of Short Arm Of Chromosome 4

Wolf-Hirschhorn Syndrome
  • Pitt-Rogers-Danks Syndrome

  • WHS

  • Chromosome 4p16.3 Deletion Syndrome

  • Wittwer Syndrome

  • 4p- Syndrome

  • Pitt Syndrome

  • 4p Deletion Syndrome

  • Distal Deletion 4p

  • Distal Monosomy 4p

  • Telomeric Deletion 4p

  • Prds

  • 4p Syndrome

  • Chromosome 4p Syndrome

  • Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation

  • Wolf Syndrome

  • Chromosome 4p Deletion Syndrome

  • Chromosome 4p Monosomy

  • Del Syndrome

  • Monosomy 4p

  • Partial Monosomy 4p

  • Chromosome 4 Short Arm Deletion

Developmental And Epileptic Encephalopathy
  • Encephalopathy, Developmental And Epileptic

Schizophrenia
  • SCZD

  • Schizophrenia With Or Without An Affective Disorder

  • Schizophrenia 12

  • Schizophrenia, Susceptibility To

  • Schizophrenia-1

  • Dementia Praecox

  • Schizophrenia 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta CPLX1 VGNC VGNC:71460
Rattus norvegicus CPLX1 RGD RGD:70944
Bos taurus CPLX1 VGNC VGNC:58459
Canis familiaris CPLX1 VGNC VGNC:39555
Mus musculus CPLX1 MGD MGI:104727
Felis catus CPLX1 VGNC VGNC:107321