RASGRP1
entrez
10125
canonical
uniprot
O95267
canonical
ensembl
ENSG00000172575
resolver
ensp
ENSP00000310244
resolver
ensp
ENSP00000388540
resolver
ensp
ENSP00000413105
resolver
ensp
ENSP00000452721
resolver
ensp
ENSP00000453583
resolver
ensp
ENSP00000513436
resolver
genesymbol
RASGRP1
resolver
genesymbol_syn
RASGRP
resolver
hgnc
HGNC:9878
resolver
uniprot
B2RA89
resolver
uniprot
Q56CZ0
resolver
uniprot
Q58G75
resolver
uniprot
Q59HB1
resolver
uniprot
Q5I3A8
resolver
uniprot
Q6GV31
resolver
uniprot
Q6NX39
resolver
uniprot
Q7LDG6
resolver
uniprot
Q9UI94
resolver
uniprot
Q9UNN9
resolver
uniprot_entry
B2RA89_HUMAN
resolver
uniprot_entry
GRP1_HUMAN
resolver
uniprot_sec
Q56CZ0
resolver
uniprot_sec
Q58G75
resolver
uniprot_sec
Q59HB1
resolver
uniprot_sec
Q5I3A8
resolver
uniprot_sec
Q6GV31
resolver
uniprot_sec
Q6NX39
resolver
uniprot_sec
Q7LDG6
resolver
uniprot_sec
Q9UI94
resolver
uniprot_sec
Q9UNN9
resolver
activity_regulation
ACTIVITY REGULATION: Autoinhibited. Activated by diacylglycerol and calcium binding, which induces a conformational change releasing the autoinhibitory state (PubMed:23908768). Regulated by DGKA (PubMed:11919165). Regulated by DGKZ (PubMed:11257115). Regulated by PLC gamma and F-actin polymerization (PubMed:12839994). {ECO:0000269|PubMed:11257115, ECO:0000269|PubMed:11919165, ECO:0000269|PubMed:12839994, ECO:0000269|PubMed:23908768}.
uniprot
proteins
amino_acid_sequence
MGTLGKAREAPRKPSHGCRAASKARLEAKPANSPFPSHPSLAHITQFRMMVSLGHLAKGASLDDLIDSCIQSFDADGNLCRSNQLLQVMLTMHRIVISSAELLQKVITLYKDALAKNSPGLCLKICYFVRYWITEFWVMFKMDASLTDTMEEFQELVKAKGEELHCRLIDTTQINARDWSRKLTQRIKSNTSKKRKVSLLFDHLEPEELSEHLTYLEFKSFRRISFSDYQNYLVNSCVKENPTMERSIALCNGISQWVQLMVLSRPTPQLRAEVFIKFIQVAQKLHQLQNFNTLMAVIGGLCHSSISRLKETSSHVPHEINKVLGEMTELLSSSRNYDNYRRAYGECTDFKIPILGVHLKDLISLYEAMPDYLEDGKVNVHKLLALYNHISELVQLQEVAPPLEANKDLVHLLTLSLDLYYTEDEIYELSYAREPRNHRAPPLTPSKPPVVVDWASGVSPKPDPKTISKHVQRMVDSVFKNYDHDQDGYISQEEFEKIAASFPFSFCVMDKDREGLISRDEITAYFMRASSIYSKLGLGFPHNFQETTYLKPTFCDNCAGFLWGVIKQGYRCKDCGMNCHKQCKDLVVFECKKRAKNPVAPTENNTSVGPVSNLCSLGAKDLLHAPEEGPFTFPNGEAVEHGEESKDRTIMLMGVSSQKISLRLKRAVAHKATQTESQPWIGSEGPSGPFVLSSPRKTAQDTLYVLPSPTSPCPSPVLVRKRAFVKWENKDSLIKSKEELRHLRLPTYQELEQEINTLKADNDALKIQLKYAQKKIESLQLEKSNHVLAQMEQGDCS
uniprot
proteins
disease_involvement
DISEASE: Systemic lupus erythematosus (SLE) [MIM:152700]: 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. {ECO:0000269|PubMed:17878389}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. Aberrantly spliced isoforms and/or diminished levels of RASGRP1 are found in a cohort of SLE patients raising the possibility that dysregulation of this signaling protein contributes to the development of autoimmunity in a subset of SLE patients.; DISEASE: Immunodeficiency 64 with lymphoproliferation (IMD64) [MIM:618534]: 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. {ECO:0000269|PubMed:27776107, ECO:0000269|PubMed:28822832, ECO:0000269|PubMed:29155103}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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, 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). {ECO:0000250|UniProtKB:Q9Z1S3, ECO:0000269|PubMed:10807788, ECO:0000269|PubMed:12782630, ECO:0000269|PubMed:12839994, ECO:0000269|PubMed:12845332, ECO:0000269|PubMed:15060167, ECO:0000269|PubMed:15184873, ECO:0000269|PubMed:15899849, ECO:0000269|PubMed:19933860, ECO:0000269|PubMed:23908768, ECO:0000269|PubMed:27776107, ECO:0000269|PubMed:29155103}.
uniprot
proteins
mass_dalton
90402
uniprot
proteins
mutagenesis
MUTAGEN 271; /note="R->E: Loss of function; prevents Ras activation."; /evidence="ECO:0000269|PubMed:12845332, ECO:0000269|PubMed:23908768"; MUTAGEN 483..487; /note="DHDQD->AHAQA: Decrease of Ras activation indicated by decrease of ERK phosphorylation."; /evidence="ECO:0000269|PubMed:23908768"; MUTAGEN 494; /note="E->A: Decrease of Ras activation indicated by decrease of ERK phosphorylation."; /evidence="ECO:0000269|PubMed:23908768"; MUTAGEN 506; /note="F->D: Increase of Ras activation indicated by increase of ERK phosphorylation."; /evidence="ECO:0000269|PubMed:23908768"; MUTAGEN 508; /note="V->D: Increase of Ras activation indicated by increase of ERK phosphorylation."; /evidence="ECO:0000269|PubMed:23908768"; MUTAGEN 549; /note="Y->F: Loss of localization to the endoplasmic reticulum and the Golgi apparatus."; /evidence="ECO:0000269|PubMed:12782630
uniprot
proteins
protein_family
RASGRP family
uniprot
proteins
pubmed
10087292
uniprot
proteins
pubmed
10807788
uniprot
proteins
pubmed
11257115
uniprot
proteins
pubmed
11919165
uniprot
proteins
pubmed
12782630
uniprot
proteins
pubmed
12839994
uniprot
proteins
pubmed
12845332
uniprot
proteins
pubmed
15060167
uniprot
proteins
pubmed
15184873
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15657177
uniprot
proteins
pubmed
15899849
uniprot
proteins
pubmed
17658605
uniprot
proteins
pubmed
17878389
uniprot
proteins
pubmed
19933860
uniprot
proteins
pubmed
23908768
uniprot
proteins
pubmed
27776107
uniprot
proteins
pubmed
28822832
uniprot
proteins
pubmed
29155103
uniprot
proteins
pubmed
9789079
uniprot
proteins
sequence_length
797
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol. Cell membrane; Peripheral membrane protein. Golgi apparatus membrane; Peripheral membrane protein. Endoplasmic reticulum membrane; Peripheral membrane protein. Note=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). {ECO:0000250}.
uniprot
proteins