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  2. CPLX1 - complexin 1 Gene

CPLX1 - complexin 1 Gene

Homo sapiens

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

Gene ID: 10815 | Gene type: protein coding

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

CPLX1 Protein Structure

Synaphin

Synaphin: Synaphin protein (1 - 134)

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

complexin-1

CPX I

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