2. Gene
  3. ARHGDIA - Rho GDP dissociation inhibitor alpha Gene

ARHGDIA - Rho GDP dissociation inhibitor alpha Gene

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

中文名称：Rho GDP 解离抑制因子 α

种属: Homo sapiens

同用名: GDIA1; NPHS8; RHOGDI; RHOGDI-1; HEL-S-47e

基因 ID: 396 | 基因类型: protein coding

关于 ARHGDIA

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:81,867,721-81,871,337 (from NCBI)

This gene has 17 transcripts (splice variants), 278 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in colon (RPKM 69.2), fat (RPKM 67.4) and 25 other tissues.

功能概要

该基因编码的蛋白质在通过 Rho GTP 酶调节信号传导中起着关键作用。编码的蛋白质抑制 Rho 家族成员与 GDP (鸟嘌呤二磷酸) 的解离，从而使这些因子保持在非活性状态。这种蛋白质的活性在多种细胞过程中很重要，并且这种基因的表达可能在肿瘤中发生改变。在患有 8 型肾病综合征的个体中发现了该基因的突变。交替剪接导致多个转录变体。[RefSeq 提供，2014 年 7 月]

This gene encodes a protein that plays a key role in the regulation of signaling through Rho GTPases. The encoded protein inhibits the disassociation of Rho family members from GDP (guanine diphosphate), thereby maintaining these factors in an inactive state. Activity of this protein is important in a variety of cellular processes, and expression of this gene may be altered in tumors. Mutations in this gene have been found in individuals with nephrotic syndrome, type 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

ARHGDIA 基因产物(7)

mRNA Protein Name
NM_001185077.3 NP_001172006.1 rho GDP-dissociation inhibitor 1 isoform a
NM_001185078.3 NP_001172007.1 rho GDP-dissociation inhibitor 1 isoform b
NM_001301240.2 NP_001288169.1 rho GDP-dissociation inhibitor 1 isoform c
NM_001301241.2 NP_001288170.1 rho GDP-dissociation inhibitor 1 isoform c
NM_001301242.2 NP_001288171.1 rho GDP-dissociation inhibitor 1 isoform d
NM_001301243.2 NP_001288172.1 rho GDP-dissociation inhibitor 1 isoform e
NM_004309.6 NP_004300.1 rho GDP-dissociation inhibitor 1 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 protein binding IPI
IPI: 通过物理相互作用推断
10489445 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in regulation of Rho protein signal transduction IMP
IMP: 通过突变表型推断
8262133 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

ARHGDIA 蛋白结构

Rho_GDI

Rho_GDI: RHO protein GDP dissociation inhibitor (1 - 201)

  • 0
  • 100
  • 204 a.a.
蛋白主名 其他名称

rho GDP-dissociation inhibitor 1

GDP-dissociation inhibitor, aplysia RAS-related 1

关联疾病

疾病名称 别名
Nephrotic Syndrome, Type 8

NPHS8

Nephrotic Syndrome Type 8

Nephrotic Syndrome 8
Genetic Steroid-Resistant Nephrotic Syndrome

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Genetic Srns

Hereditary Steroid-Resistant Nephrotic Syndrome

Familial Idiopathic Nephrotic Syndrome

Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive

Srn1
Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome

Ns - [Nephrotic Syndrome]

Nephrosis Syndrome

Nephrosis Nos

Glomerular Lesion Nephrosis
Diffuse Mesangial Sclerosis

Familial Mesangial Sclerosis

Mesangial Sclerosis, Diffuse

Dms

Diffuse Isolated Mesangial Sclerosis

Isolated Diffuse Mesangial Sclerosis

Nephrotic Syndrome, Early Onset With Diffuse Mesangial Sclerosis
Osteogenesis Imperfecta, Type Xxi

OI21

Osteogenesis Imperfecta Type 21

Osteogenesis Imperfecta, Type 21

Osteogenesis Imperfecta Type Xxi

Osteogenesis Imperfecta 21
Articulation Disorder

Phonological Disorder

Articulation Disorders

Articulation Impairment

Speech Sound Disorders
Stuttering

Stammering

Familial Persistent Stuttering

Stuttering, Familial Persistent 1
Speech Disorder

Speech Disorders
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-RS00943 ARHGDIA Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus ARHGDIA VGNC VGNC:26101
Rattus norvegicus ARHGDIA RGD RGD:1359547
Macaca mulatta ARHGDIA VGNC VGNC:70010
Canis familiaris ARHGDIA VGNC VGNC:38069
Mus musculus ARHGDIA MGD MGI:2178103
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