1. Gene
  2. SYDE1 - synapse defective Rho GTPase homolog 1 Gene

SYDE1 - synapse defective Rho GTPase homolog 1 Gene

中文名称:突触缺陷型 Rho GTPase 同系物 1

种属: Homo sapiens

同用名: 7h3; SYD1

基因 ID: 85360 | 基因类型: protein coding

关于 SYDE1

Cytogenetic location: 19p13.12 Genomic coordinates (GRCh38): 19:15,107,401-15,114,974 (from NCBI)

This gene has 5 transcripts (splice variants), 188 orthologues and 4 paralogues. Ubiquitous expression in fat (RPKM 9.3), placenta (RPKM 9.2) and 23 other tissues.

功能概要

该基因编码的蛋白质是一种在胎盘中高度表达的 Rho GTPase 激活蛋白。编码的蛋白质参与细胞骨架重塑和滋养层细胞迁移。该基因表达减少与宫内生长受限 (IUGR) 有关。[RefSeq 提供,2017 年 2 月]

The protein encoded by this gene is a Rho GTPase-activating protein highly expressed in placenta. The encoded protein is involved in cytoskeletal remodeling and trophoblast cell migration. Decreased expression of this gene has been associated with intrauterine growth restriction (IUGR). [provided by RefSeq, Feb 2017]

SYDE1 基因产物(2)

mRNA Protein Name
NM_001300910.2 NP_001287839.1 rho GTPase-activating protein SYDE1 isoform 2
NM_033025.6 NP_149014.3 rho GTPase-activating protein SYDE1 isoform 1
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables GTPase activator activity IDA
IDA: 通过直接分析推断
27917469 GOA
enables GTPase activator activity IMP
IMP: 通过突变表型推断
27917469 GOA
enables GTPase regulator activity IDA
IDA: 通过直接分析推断
27917469 GOA
enables GTPase regulator activity IMP
IMP: 通过突变表型推断
27917469 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within actin cytoskeleton organization IDA
IDA: 通过直接分析推断
27917469 GOA
acts upstream of or within cell migration IDA
IDA: 通过直接分析推断
27917469 GOA
acts upstream of or within cell migration IMP
IMP: 通过突变表型推断
27917469 GOA
involved in positive regulation of trophoblast cell migration IMP
IMP: 通过突变表型推断
27917469 GOA
involved in regulation of cytoskeleton organization IMP
IMP: 通过突变表型推断
27917469 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

SYDE1 蛋白结构

RhoGAP

RhoGAP: RhoGAP domain (414 - 566)

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

rho GTPase-activating protein SYDE1

protein syd-1 homolog 1

关联疾病

疾病名称 别名
Autosomal Dominant Wolfram 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
Rattus norvegicus SYDE1 RGD RGD:1305857
Canis familiaris SYDE1 VGNC VGNC:47020
Bos taurus SYDE1 VGNC VGNC:35510
Mus musculus SYDE1 MGD MGI:1918959
Felis catus SYDE1 VGNC VGNC:80729