ARHGAP26 - Rho GTPase activating protein 26 Gene

中文名称：Rho GTP 酶激活蛋白 26

种属: Homo sapiens

同用名: GRAF; GRAF1; OPHN1L; OPHN1L1

基因 ID: 23092 | 基因类型: protein coding

关于 ARHGAP26

Cytogenetic location: 5q31.3 Genomic coordinates (GRCh38): 5:142,770,377-143,229,011 (from NCBI)

This gene has 23 transcripts (splice variants), 210 orthologues, 3 paralogues and is associated with 76 phenotypes. Ubiquitous expression in brain (RPKM 7.0), gall bladder (RPKM 4.5) and 24 other tissues.

功能概要

细胞与细胞外基质的相互作用触发整合素细胞表面受体开始信号级联反应，调节肌动蛋白-细胞骨架的组织。这些级联中涉及的蛋白质之一是粘着斑激酶。该基因编码的蛋白质是一种 GTP 酶激活蛋白，可与粘着斑激酶结合并介导 GTP 结合蛋白 RhoA 和 Cdc42 的活性。该基因的缺陷是导致幼年型粒单核细胞白血病 (JMML) 的原因。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供，2017 年 3 月]

Interaction of a cell with the extracellular matrix triggers Integrin cell surface receptors to begin signaling cascades that regulate the organization of the actin-cytoskeleton. One of the proteins involved in these cascades is focal adhesion kinase. The protein encoded by this gene is a GTPase activating protein that binds to focal adhesion kinase and mediates the activity of the GTP binding proteins RhoA and Cdc42. Defects in this gene are a cause of juvenile myelomonocytic leukemia (JMML). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2017]

ARHGAP26 基因产物(3)

mRNA	Protein	Name
NM_001135608.3	NP_001129080.1	rho GTPase-activating protein 26 isoform b
NM_001349547.2	NP_001336476.1	rho GTPase-activating protein 26 isoform c
NM_015071.6	NP_055886.1	rho GTPase-activating protein 26 isoform a

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables phospholipid binding	IDA IDA: 通过直接分析推断	18954304	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	11432776	GOA
enables protein-macromolecule adaptor activity	IDA IDA: 通过直接分析推断	38081847	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in mitophagy	IDA IDA: 通过直接分析推断	38081847	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cytosol	IDA IDA: 通过直接分析推断	32344433	GOA
located in endosome membrane	IDA IDA: 通过直接分析推断	32344433	GOA
is active in mitochondrion	IDA IDA: 通过直接分析推断	38081847	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

ARHGAP26 蛋白结构

IMD

RhoGAP

SH3_9

0
200
400
600
814 a.a.

蛋白主名

其他名称

rho GTPase-activating protein 26

GTPase regulator associated with focal adhesion kinase pp125(FAK)

ARHGAP26 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	ARHGAP26	Q9UNA1	PKN3	Homo sapiens	Q6P5Z2	Pull Down	11432776
种属内	ARHGAP26	Q9UNA1	CDC42EP2	Homo sapiens	O14613	Validated Y2H	25416956
种属内	ARHGAP26	Q9UNA1	CDC42EP2	Homo sapiens	O14613	Y2H Array	25416956

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

Juvenile Myelomonocytic Leukemia

Leukemia, Juvenile Myelomonocytic	JMML
Leukemia, Juvenile Myelomonocytic, Somatic	Juvenile Chronic Myelomonocytic Leukemia
Juvenile Chronic Myelogenous Leukemia	Leukemia, Myelomonocytic, Juvenile
Juvenile Myelomonocytic Leukaemia Without Mention Of Remission

Myelodysplastic Syndrome

Myelodysplastic Syndromes	Myelodysplasia
MDS	Myelodysplastic Syndrome Included
Myelodysplastic Syndrome, Susceptibility To, Included	Myelodysplastic Syndrome, Somatic
Myelodysplastic Syndrome, Susceptibility To

Alpha-Thalassemia

Alpha Thalassemia	Alpha Thalassaemia
Alpha Plus Thalassemia	Thalassemia, Alpha-
Thalassemias, Alpha-	A-Thalassemia
Α-Thalassemia	A-THAL
Thalassemia	Alpha Thalassaemia Syndrome

Diffuse Gastric Cancer

Hereditary Diffuse Gastric Adenocarcinoma	Hereditary Diffuse Gastric Cancer
Signet Cell Adenocarcinoma	Signet Ring Cell Carcinoma
Signet Ring Cell Gastric Carcinoma	Signet Ring Gastric Carcinoma
Fdgc	Familial Diffuse Cancer Of Stomach
Familial Diffuse Gastric Cancer	Gastric Cancer, Familial Diffuse
Gastric Cancer, Hereditary Diffuse	Hdgc
Hereditary Diffuse Cancer Of Stomach	Diffuse Gastric Cancer Syndrome
Cancer, Gastric, Diffuse	Carcinoma, Signet Ring Cell
Gastric Signet Ring Carcinoma

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS00926	ARHGAP26 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	ARHGAP26	RGD	RGD:1310923
Canis familiaris	ARHGAP26	VGNC	VGNC:38054
Macaca mulatta	ARHGAP26	VGNC	VGNC:69846
Mus musculus	ARHGAP26	MGD	MGI:1918552
Bos taurus	ARHGAP26	VGNC	VGNC:26084
Felis catus	ARHGAP26	VGNC	VGNC:59883

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