2. Gene
  3. RASGEF1B - RasGEF domain family member 1B Gene

RASGEF1B - RasGEF domain family member 1B Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：RasGEF 域家族成员 1B

种属: Homo sapiens

同用名: GPIG4

基因 ID: 153020 | 基因类型: protein coding

关于 RASGEF1B

Cytogenetic location: 4q21.21 Genomic coordinates (GRCh38): 4:81,426,393-81,471,907 (from NCBI)

This gene has 13 transcripts (splice variants), 281 orthologues and 24 paralogues. Ubiquitous expression in skin (RPKM 10.2), bone marrow (RPKM 8.3) and 24 other tissues.

功能概要

启用胍基核苷酸交换因子活性。预测参与调节催化活性和小 GTPase 介导的信号转导。预计位于早期核内体；晚期内体；和中体。 [由基因组资源联盟提供，2022 年 4 月]

Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in regulation of catalytic activity and small GTPase mediated signal transduction. Predicted to be located in early endosome; late endosome; and midbody. [provided by Alliance of Genome Resources, Apr 2022]

RASGEF1B 基因产物(3)

mRNA Protein Name
NM_001300735.2 NP_001287664.1 ras-GEF domain-containing family member 1B isoform 2
NM_001300736.2 NP_001287665.1 ras-GEF domain-containing family member 1B isoform 3
NM_152545.3 NP_689758.1 ras-GEF domain-containing family member 1B isoform 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 guanyl-nucleotide exchange factor activity IDA
IDA: 通过直接分析推断
19645719 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 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

RASGEF1B 蛋白结构

RasGEF_N

RasGEF_N: RasGEF N-terminal motif (39 - 135)

RasGEF

RasGEF: RasGEF domain (205 - 403)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 473 a.a.
蛋白主名 其他名称

ras-GEF domain-containing family member 1B

GPI gamma-4

关联疾病

疾病名称 别名
Dystonia 24

DYT24

Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement

Dystonia-24

Dystonia, Type 24
Chromosome 4q21 Deletion Syndrome

4q21 Microdeletion Syndrome

Monosomy 4q21

Del(4)(Q21)

Chromosome Deletion Syndrome 4q21
Malignant Hemangioma
Ileum Cancer

Ileal Neoplasm

Malignant Neoplasm Of Ileum

Ileal Cancer

Ileal Neoplasms
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS11689 RASGEF1B Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris RASGEF1B VGNC VGNC:45368
Felis catus RASGEF1B VGNC VGNC:64500
Macaca mulatta RASGEF1B VGNC VGNC:76532
Mus musculus RASGEF1B MGD MGI:2443755
Bos taurus RASGEF1B VGNC VGNC:33744
Rattus norvegicus RASGEF1B RGD RGD:1562220
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