1. Gene
  2. SYBU - syntabulin Gene

SYBU - syntabulin Gene

中文名称:合成蛋白

种属: Homo sapiens

同用名: OCSYN; SNPHL; GOLSYN

基因 ID: 55638 | 基因类型: protein coding

关于 SYBU

Cytogenetic location: 8q23.2 Genomic coordinates (GRCh38): 8:109,573,978-109,691,600 (from NCBI)

This gene has 38 transcripts (splice variants), 209 orthologues and 1 paralogue. Broad expression in brain (RPKM 10.5), fat (RPKM 7.9) and 21 other tissues.

功能概要

Syntabulin/GOLSYN 是驱动蛋白电机-适配器复合体的一部分,它对活性区成分的顺行轴突运输至关重要,并有助于神经元发育过程中依赖于活动的突触前组装 (Cai 等人,2007 [PubMed 17611281]) 。[已提供 OMIM,2008 年 3 月]

Syntabulin/GOLSYN is part of a Kinesin motor-adaptor complex that is critical for the anterograde axonal transport of active zone components and contributes to activity-dependent presynaptic assembly during neuronal development (Cai et al., 2007 [PubMed 17611281]).[supplied by OMIM, Mar 2008]

SYBU 基因产物(17)

mRNA Protein Name
NM_001099743.2 NP_001093213.1 syntabulin isoform b
NM_001099744.2 NP_001093214.1 syntabulin isoform a
NM_001099745.2 NP_001093215.1 syntabulin isoform a
NM_001099746.2 NP_001093216.1 syntabulin isoform d
NM_001099747.2 NP_001093217.1 syntabulin isoform b
NM_001099748.2 NP_001093218.1 syntabulin isoform a
NM_001099749.2 NP_001093219.1 syntabulin isoform d
NM_001099750.2 NP_001093220.1 syntabulin isoform a
NM_001099751.2 NP_001093221.1 syntabulin isoform b
NM_001099752.2 NP_001093222.1 syntabulin isoform a
NM_001099753.2 NP_001093223.1 syntabulin isoform b
NM_001099754.2 NP_001093224.1 syntabulin isoform a
NM_001099755.2 NP_001093225.1 syntabulin isoform d
NM_001099756.1 NP_001093226.1 syntabulin isoform c
NM_001330596.2 NP_001317525.1 syntabulin isoform e
NM_001363032.2 NP_001349961.1 syntabulin isoform f
NM_017786.6 NP_060256.3 syntabulin isoform b
基因本体论
  • 分子功能
  • 细胞组分
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
15459722 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
colocalizes with microtubule IDA
IDA: 通过直接分析推断
15459722 GOA
colocalizes with vesicle IDA
IDA: 通过直接分析推断
15459722 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

SYBU 蛋白结构

Syntaphilin

Syntaphilin: Golgi-localised syntaxin-1-binding clamp (210 - 507)

  • 0
  • 200
  • 400
  • 600
  • 663 a.a.
蛋白主名 其他名称

syntabulin

GOLSYN A protein

SYBU 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
SYBU Q9NX95 DTNBP1 Homo sapiens Q96EV8
Y2H
17043677
种属内
SYBU Q9NX95 ATXN1 Homo sapiens P54253
Y2H
16713569
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
Type C Thymoma

Thymoma, Type C

Developmental And Epileptic Encephalopathy 4

DEE4

Epileptic Encephalopathy, Early Infantile, 4

Eiee4

Early Infantile Epileptic Encephalopathy 4

Stxbp1-Related Early-Onset Encephalopathy

Early Myoclonic Encephalopathy

Developmental And Epileptic Encephalopathy, 4

Stxbp1 Disorders

Stxbp1 Encephalopathy

Developmental And Epileptic Encephalopathy, Type 4

Early-Infantile Epileptic Encephalopathy 4

Stxbp1 Encephalopathy With Epilepsy

Stxbp1 Epileptic Encephalopathy

Stxbp1-Related Developmental And Epileptic Encephalopathy

Stxbp1-Related Epileptic Encephalopathy

Eme

Neonatal Epilepsy With Suppression-Burst Pattern

Encephalopathy, Epileptic, Early Infantile, Type 4

Persistent Hyperplastic Primary Vitreous

Congenital Retinal Detachment

Ncrna Disease

Non-Syndromic Congenital Retinal Non-Attachment

Pfvs

Phpv

Persistent Fetal Vasculature Syndrome

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 SYBU VGNC VGNC:78218
Canis familiaris SYBU VGNC VGNC:47013
Bos taurus SYBU VGNC VGNC:35503
Rattus norvegicus SYBU RGD RGD:1564335
Felis catus SYBU VGNC VGNC:65871
Mus musculus SYBU MGD MGI:2442392