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RASGRP1
SNP Table
| variant | genotype | frequency | risk allele |
|---|---|---|---|
| rs558337177 | |||
| rs16967112 | |||
| rs12324402 | |||
| rs11639011 | |||
| rs28536554 | |||
| rs56059718 | |||
| rs8032939 | |||
| rs8035957 | |||
| rs759089770 | |||
| rs11073333 | |||
| rs28582094 | |||
| rs28651296 | |||
| rs4583194 | |||
| rs57034237 | |||
| rs72727387 | |||
| rs72727388 | |||
| rs1354206101 | |||
| rs147034755 | |||
| rs16967103 | |||
| rs16967104 |
Find on This Page
Summary
The gene codes for a protein, RAS guanyl releasing protein 1. It activates the Erk/MAP kinase cascade and regulates T-cells and B-cells development, homeostasis and differentiation. Changed expression of isoforms of the protein may cause a susceptibility to systemic lupus erythematosus (SLE) [R].
Protein names
Found in These Blog Articles
GHR Function
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). 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). 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 (By similarity). May also function in differentiation of other cell types (PubMed:12845332).
More Information
Covered on Genetics Home Reference: rheumatoid arthritissystemic lupus erythematosusFrom UniProt: 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. [MIM:152700]
From NCBI Gene: 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] From UniProt: 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). 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). 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 (By similarity). May also function in differentiation of other cell types (PubMed:12845332).
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