RASGRP1

This gene is a member of a family of genes characterized by the presence of a Ras superfamily guanine nucleotide exchange factor (GEF) domain. It functions as a diacylglycerol (DAG)-regulated nucleotide exchange factor specifically activating Ras through the exchange of bound GDP for GTP. It activates the Erk/MAP kinase cascade and regulates T-cells and B-cells development, homeostasis and differentiation. Alternatively spliced transcript variants encoding different isoforms have been identified. Altered expression of the different isoforms of this protein may be a cause of susceptibility to systemic lupus erythematosus (SLE). [provided by RefSeq, Jul 2008]

RAS Guanyl Releasing Protein 1

Functions as a calcium- and diacylglycerol (DAG)-regulated nucleotide exchange factor specifically activating Ras through the exchange of bound GDP for GTP (PubMed:15899849, PubMed:23908768, PubMed:27776107, PubMed:29155103).
Activates the Erk/MAP kinase cascade (PubMed:15899849).
Regulates T-cell/B-cell development, homeostasis and differentiation by coupling T-lymphocyte/B-lymphocyte antigen receptors to Ras (PubMed:10807788, PubMed:12839994, PubMed:27776107, PubMed:29155103).
Regulates NK cell cytotoxicity and ITAM-dependent cytokine production by activation of Ras-mediated ERK and JNK pathways (PubMed:19933860).
Functions in mast cell degranulation and cytokine secretion, regulating FcERI-evoked allergic responses. May also function in differentiation of other cell types (PubMed:12845332).

Biological Process activation of GTPase activityManual Assertion Based On ExperimentIDA:CACAO
Biological Process B cell activationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process B cell proliferationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process cell differentiationIEA:UniProtKB-KW
Biological Process inflammatory response to antigenic stimulusIEA:Ensembl
Biological Process mast cell degranulationIEA:Ensembl
Biological Process natural killer cell activationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process positive regulation of ERK1 and ERK2 cascadeManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process positive regulation of granulocyte macrophage colony-stimulating factor productionManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process positive regulation of GTPase activityManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process positive regulation of interferon-gamma productionManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process positive regulation of JNK cascadeManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process positive regulation of MAP kinase activityManual Assertion Based On ExperimentIMP:CACAO
Biological Process positive regulation of natural killer cell differentiationIEA:Ensembl
Biological Process positive regulation of natural killer cell mediated cytotoxicityManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process positive regulation of protein phosphorylationManual Assertion Based On ExperimentIDA:CACAO
Biological Process positive regulation of Ras protein signal transductionManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process positive regulation of T cell differentiation in thymusIEA:Ensembl
Biological Process positive regulation of tumor necrosis factor productionManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process Ras protein signal transductionManual Assertion Based On ExperimentIBA:GO_Central
Biological Process regulation of ERK1 and ERK2 cascadeManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process regulation of phosphatidylinositol 3-kinase signalingIEA:Ensembl
Biological Process secretory granule localizationIEA:Ensembl
Biological Process signal transductionManual Assertion Based On ExperimentTAS:ProtInc
Biological Process T cell activationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process T cell proliferationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process vesicle transport along microtubuleIEA:Ensembl

Cytoplasm, cytosol
Cell membrane
Golgi apparatus membrane
Endoplasmic reticulum membrane
Found both in the cytosol and associated with membranes. Relocalization to the cell membrane upon activation is F-actin-dependent. Translocates to the Golgi in response to phorbol ester or nerve growth factor. Localizes to somata and dendrites but not to axons of hippocampal pyramidal cells (By similarity).

Systemic lupus erythematosus (SLE):
A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow.
Immunodeficiency 64 (IMD64):
An autosomal recessive primary immunodeficiency characterized by recurrent bacterial, viral and fungal infections, variably decreased numbers of T cells, deficiencies of B and NK cells, and increased susceptibility to Epstein-Barr virus (EBV) infection. Patients may develop lymphoproliferation or EBV-associated lymphoma. Some patients may develop features of autoimmunity.