2. Gene
  3. ABR - ABR activator of RhoGEF and GTPase Gene

ABR - ABR activator of RhoGEF and GTPase Gene

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

中文名称：RhoGEF 和 GTPase 的 ABR 激活因子

种属: Homo sapiens

同用名: MDB

基因 ID: 29 | 基因类型: protein coding

关于 ABR

Cytogenetic location: 17p13.3 Genomic coordinates (GRCh38): 17:1,003,519-1,229,722 (from NCBI)

This gene has 36 transcripts (splice variants), 1 gene allele, 204 orthologues and 1 paralogue. Ubiquitous expression in brain (RPKM 31.0), heart (RPKM 11.9) and 23 other tissues.

功能概要

该基因编码的蛋白质类似于位于 22 号染色体上的断点簇区域基因编码的蛋白质。该基因编码的蛋白质包含 GTP 酶激活蛋白结构域，该结构域存在于 GTP 结合的 Rho 家族成员中蛋白质。对小鼠的功能研究确定这种蛋白质在前庭形态发生中起作用。已经报道了该基因的可变剪接转录物变体。[RefSeq 提供，2012 年 2 月]

This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012]

ABR 基因产物(8)

mRNA Protein Name
NM_001092.5 NP_001083.2 active breakpoint cluster region-related protein isoform b
NM_001159746.3 NP_001153218.1 active breakpoint cluster region-related protein isoform c
NM_001256847.3 NP_001243776.1 active breakpoint cluster region-related protein isoform d
NM_001282149.2 NP_001269078.1 active breakpoint cluster region-related protein isoform e
NM_001322840.2 NP_001309769.1 active breakpoint cluster region-related protein isoform c
NM_001322841.2 NP_001309770.1 active breakpoint cluster region-related protein isoform f
NM_001322842.2 NP_001309771.1 active breakpoint cluster region-related protein isoform g
NM_021962.5 NP_068781.2 active breakpoint cluster region-related protein isoform a
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
7479768 GOA
enables guanyl-nucleotide exchange factor activity IDA
IDA: 通过直接分析推断
7479768 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
20962234 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in activation of GTPase activity IDA
IDA: 通过直接分析推断
7479768 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

ABR 蛋白结构

RhoGEF

RhoGEF: RhoGEF domain (99 - 283)

PH

PH: PH domain (303 - 459)

C2

C2: C2 domain (506 - 588)

RhoGAP

RhoGAP: RhoGAP domain (661 - 809)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 859 a.a.
蛋白主名 其他名称

active breakpoint cluster region-related protein

ABR, RhoGEF and GTPase activating protein

关联疾病

疾病名称 别名
Outlet Dysfunction Constipation
Taylor'S Syndrome

Pelvic Congestion Syndrome

Congestion-Fibrosis Syndrome

Taylor Syndrome
Gastrointestinal Anthrax
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

Approval
生物活性分子 (1)
目录号 产品名 作用方式
纯度 是否罕见病
HY-13010 Laquinimod 99.46% 是
Clinical Phase
生物活性分子 (3)
目录号 产品名 作用方式
纯度 Phase
HY-10528 Tasquinimod Modulator 99.70% Phase 3
HY-13743 Roquinimex Inhibitor 99.69% Phase 3
HY-100442 Paquinimod Inhibitor 99.90% Phase 2
Pre-clinical Phase
生物活性分子 (9)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-141537 ABR-238901 Inhibitor 98.92% 否
HY-100442S1 Paquinimod-d5-1 Inhibitor 98.19% 否
HY-10528S Tasquinimod-d3 Modulator 99.34% 否
HY-13010S Laquinimod-d5 Inhibitor 98.25% 否
HY-W062904 Laquinimod sodium Inhibitor / 否
HY-RS00110 ABR Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-100442S Paquinimod-d5 Inhibitor / 否
HY-RS17572 Abr Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS24032 Abr Rat Pre-designed siRNA Set A Pre-designed Set / 否
抗体抑制剂 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-P99436 Anatumomab mafenatox Inhibitor / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus ABR VGNC VGNC:25511
Mus musculus ABR MGD MGI:107771
Felis catus ABR VGNC VGNC:68613
Canis familiaris ABR VGNC VGNC:37481
Rattus norvegicus ABR RGD RGD:1306279
Macaca mulatta ABR VGNC VGNC:69589
Macaca fascicularis ABR NCBI NCBI:102126046
Others ABR NCBI
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