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  2. CPLX1 - complexin 1 Gene

CPLX1 - complexin 1 Gene

中文名称:络合物 1

种属: Homo sapiens

同用名: CPX1; CPX-I; DEE63; EIEE63

基因 ID: 10815 | 基因类型: protein coding

关于 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.

功能概要

由复合蛋白/突触蛋白基因家族编码的蛋白质是在突触小泡胞吐作用中起作用的胞质蛋白。这些蛋白质结合 syntaxin,SNAP 受体的一部分。该基因的蛋白质产物与 SNAP 受体复合体结合并破坏它,从而允许递质释放。[RefSeq 提供,2008 年 7 月]

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 基因产物(1)

mRNA Protein Name
NM_006651.4 NP_006642.1 complexin-1
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
21785412 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

CPLX1 蛋白结构

Synaphin

Synaphin: Synaphin protein (1 - 134)

  • 0
  • 100
  • 134 a.a.
蛋白主名 其他名称

complexin-1

CPX I

CPLX1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
CPLX1 O14810 SNAP25 Homo sapiens P60880-2 21785412
种属内
CPLX1 O14810 SNAP25 Homo sapiens P60880-2 21785414
种属内
CPLX1 O14810 SNAP25 Homo sapiens P60880-2 21785414
种属内
CPLX1 O14810 SNAP25 Homo sapiens P60880-2
GMS
21785412
种属内
CPLX1 O14810 SNAP25 Homo sapiens P60880-2
GMS
21785414
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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