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  2. SYNGR1 - synaptogyrin 1 Gene

SYNGR1 - synaptogyrin 1 Gene

中文名称:突触蛋白 1

种属: Homo sapiens

基因 ID: 9145 | 基因类型: protein coding

关于 SYNGR1

Cytogenetic location: 22q13.1 Genomic coordinates (GRCh38): 22:39,349,991-39,385,575 (from NCBI)

This gene has 7 transcripts (splice variants), 242 orthologues and 3 paralogues. Biased expression in brain (RPKM 53.1), ovary (RPKM 17.1) and 11 other tissues.

功能概要

该基因编码与神经元细胞中突触前小泡相关的完整膜蛋白。这种蛋白质的确切功能尚不清楚,但对类似鼠类蛋白质的研究表明,它在突触可塑性中发挥作用,而不是突触传递所必需的。该基因产物属于突触蛋白基因家族。已经鉴定出编码三种不同亚型的三种可变剪接变体。[RefSeq 提供,2008 年 7 月]

This gene encodes an integral membrane protein associated with presynaptic vesicles in neuronal cells. The exact function of this protein is unclear, but studies of a similar murine protein suggest that it functions in synaptic plasticity without being required for synaptic transmission. The gene product belongs to the synaptogyrin gene family. Three alternatively spliced variants encoding three different isoforms have been identified. [provided by RefSeq, Jul 2008]

SYNGR1 基因产物(3)

mRNA Protein Name
NM_004711.5 NP_004702.2 synaptogyrin-1 isoform 1a
NM_145731.4 NP_663783.1 synaptogyrin-1 isoform 1b
NM_145738.3 NP_663791.1 synaptogyrin-1 isoform 1c
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
25416956 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

SYNGR1 蛋白结构

MARVEL

MARVEL: Membrane-associating domain (21 - 167)

  • 0
  • 100
  • 200
  • 233 a.a.
蛋白主名 其他名称

synaptogyrin-1

SYNGR1 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
SYNGR1 O43759 FATE1 Homo sapiens Q969F0 25416956
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
Microcephaly, Seizures, And Developmental Delay

MCSZ

Developmental And Epileptic Encephalopathy 10

Epileptic Encephalopathy, Early Infantile, 10

Eiee10

Dee10

Early Infantile Epileptic Encephalopathy 10

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
Mus musculus SYNGR1 MGD MGI:1328323
Bos taurus SYNGR1 VGNC VGNC:35524
Rattus norvegicus SYNGR1 RGD RGD:3801
Macaca mulatta SYNGR1 VGNC VGNC:78068