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  2. RASA4 - RAS p21 protein activator 4 Gene

RASA4 - RAS p21 protein activator 4 Gene

中文名称:RAS p21 蛋白激活因子 4

种属: Homo sapiens

同用名: GAPL; CAPRI

基因 ID: 10156 | 基因类型: protein coding

关于 RASA4

Cytogenetic location: 7q22.1 Genomic coordinates (GRCh38): 7:102,579,646-102,616,758 (from NCBI)

This gene has 16 transcripts (splice variants), 158 orthologues and 10 paralogues. Ubiquitous expression in endometrium (RPKM 14.7), spleen (RPKM 11.8) and 24 other tissues.

功能概要

该基因编码 GTPase 激活蛋白 GAP1 家族的成员,该蛋白抑制 Ras/丝裂原活化蛋白激酶通路以响应 Ca (2+) 。增加细胞内 Ca (2+) 水平的刺激会导致该蛋白质易位至质膜,并在此处激活 Ras GTPase 活性。因此,Ras 从活性 GTP 结合状态转变为非活性 GDP 结合状态,不再激活调节基因表达、细胞生长和分化的下游通路。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2008 年 7 月]

This gene encodes a member of the GAP1 family of GTPase-activating proteins that suppresses the Ras/mitogen-activated protein kinase pathway in response to Ca(2+). Stimuli that increase intracellular Ca(2+) levels result in the translocation of this protein to the plasma membrane, where it activates Ras GTPase activity. Consequently, Ras is converted from the active GTP-bound state to the inactive GDP-bound state and no longer activates downstream pathways that regulate gene expression, cell growth, and differentiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

RASA4 基因产物(2)

mRNA Protein Name
NM_001079877.2 NP_001073346.2 ras GTPase-activating protein 4 isoform 2
NM_006989.6 NP_008920.5 ras GTPase-activating protein 4 isoform 1

RASA4 蛋白结构

C2

C2: C2 domain (7 - 88)

C2

C2: C2 domain (135 - 215)

RasGAP

RasGAP: GTPase-activator protein for Ras-like GTPase (323 - 512)

BTK

BTK: BTK motif (681 - 710)

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  • 803 a.a.
蛋白主名 其他名称

ras GTPase-activating protein 4

Ca2+-promoted Ras inactivator

关联疾病

疾病名称 别名
Trachea Carcinoma

Pancoast Tumor

Carcinoma Of The Trachea

Pancoast'S Tumor

Malignant Superior Sulcus Tumor

Malignant Superior Sulcus Tumour

Pancoast Tumour

Pancoast'S Syndrome

Pancoast'S Tumour

Pulmonary Sulcus Tumor

Pulmonary Sulcus Tumour

Superior Pulmonary Sulcus Syndrome

Pancoast 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
Mus musculus RASA4 MGD MGI:1858600